8918
Context
Biotinidase Deficiency
Biotinidase deficiency (Multiple carboxylase deficiency) is an autosomal recessive disease caused by a mutation in the BTD gene which codes for biotinidase. A deficiency in this enzyme results in accumulation of ammonia and ketone bodies in blood; 3-hydroxyisovaleric acid in plasma, spinal fluid, and urine; hydroxypropionic acid, 2-hydroxybutyric acid, 3-Hydroxybutyric acid, and citric acid in spinal fluid; and 3-methylcrotonylglycine, hydroxypropionic acid, and L and D-lactic acid in urine. Symptoms, which can present from birth into adulthood include hypotonia, ketosis, hyperammonemia, motor retardation, coma, and seborrhoic skin rash. Treatment includes biotin.
Disease
PW121711
Center
PathwayVisualizationContext121987
2000
2000
#000099
PathwayVisualization64324
64440
Biotin Metabolism
This pathway describes biotin recycling in mouse cells. Biotin, (Vitamin H, Vitamin B7) is an essential nutrient that cannot be synthesized in mice. The best natural sources of biotin in mouse nutrition are liver, legumes, soybeans, Swiss chard, tomatoes, romaine lettuce, carrots, almonds, eggs, onions, cabbage, cucumber, cauliflower, goat's milk, cow's milk, raspberries, strawberries, halibut, oats, and walnuts. Biotin is recycled in cells through a simple cycle that involves conjugation to lysine (forming biocytin), followed by cleavage into biotin and lysine followed by the formation of a biotinyl-AMP intermediate in the mitochondria which can be conjugated to lysine again.
Metabolic
12
57481
58
SubPathway
55424
118
Compound
114
229676
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
64440
Pathway
229677
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
64440
Pathway
1
Cell
CL:0000000
2
Platelet
CL:0000233
5
Hepatocyte
CL:0000182
3
Neuron
CL:0000540
4
Cardiomyocyte
CL:0000746
8
Beta cell
CL:0000639
7
Epithelial Cell
CL:0000066
1
Homo sapiens
9606
Eukaryote
Human
2
Bacteria
2
Prokaryote
Bacteria
3
Escherichia coli
562
Prokaryote
12
Mus musculus
10090
Eukaryote
Mouse
17
Rattus norvegicus
10116
Eukaryote
Rat
19
Schizosaccharomyces pombe
4896
Eukaryote
24
Solanum lycopersicum
4081
Eukaryote
Tomato
4
Arabidopsis thaliana
3702
Eukaryote
Thale cress
18
Saccharomyces cerevisiae
4932
Eukaryote
Yeast
21
Xenopus laevis
8355
Eukaryote
African clawed frog
6
Caenorhabditis elegans
6239
Eukaryote
Roundworm
25
Escherichia coli (strain K12)
83333
Prokaryote
49
Bathymodiolus platifrons
220390
Eukaryote
Deep sea mussel
23
Pseudomonas aeruginosa
287
Prokaryote
60
Nitzschia sp.
0001
Eukaryote
Nitzschia4
5
Bos taurus
9913
Eukaryote
Cattle
10
Drosophila melanogaster
7227
Eukaryote
Fruit fly
51
Picea sitchensis
3332
Eukaryote
Sitka spruce
1
Cytosol
GO:0005829
3
Mitochondrial Matrix
GO:0005759
5
Cytoplasm
GO:0005737
14
Mitochondrial Outer Membrane
GO:0005741
2
Mitochondrion
GO:0005739
15
Nucleus
GO:0005634
4
Peroxisome
GO:0005777
13
Endoplasmic Reticulum
GO:0005783
7
Endoplasmic Reticulum Membrane
GO:0005789
10
Cell Membrane
GO:0005886
27
Peroxisome Membrane
GO:0005778
31
Periplasmic Space
GO:0005620
11
Extracellular Space
GO:0005615
35
Chloroplast
GO:0009507
12
Mitochondrial Inner Membrane
GO:0005743
32
Inner Membrane
GO:0070258
6
Lysosome
GO:0005764
16
Lysosomal Lumen
GO:0043202
18
Melanosome Membrane
GO:0033162
25
Golgi apparatus
GO:0005794
20
Endoplasmic Reticulum Lumen
GO:0005788
21
Synapse
GO:0045202
36
Membrane
GO:0016020
53
Endoplasmic Reticulum Body
GO:0010168
34
Plant-Type Vacuole
GO:0000325
40
Periplasm
GO:0042597
17
Nucleoplasm
GO:0005654
2
Endothelium
BTO:0000393
1
Liver
BTO:0000759
72
9
7
Nervous System
BTO:0001484
18
Pancreas
BTO:0000988
25
Intestine
BTO:0000648
8
Blood Vessel
BTO:0001102
74
11
4
Adrenal Medulla
BTO:0000049
71
8
28
Stomach
BTO:0001307
155
26
11
Heart
BTO:0000562
73
10
2
1
1
1
PW_BS000002
4
3
1
1
PW_BS000004
8
5
1
1
PW_BS000008
16
2
1
2
PW_BS000016
22
14
1
1
PW_BS000022
13
1
2
1
PW_BS000013
32
1
15
1
5
PW_BS000032
5
4
1
1
PW_BS000005
39
7
1
1
3
PW_BS000039
3
2
1
1
PW_BS000003
18
13
1
1
PW_BS000018
10
1
7
1
1
PW_BS000010
49
7
1
1
PW_BS000049
14
10
1
PW_BS000014
58
1
14
1
1
PW_BS000058
59
27
1
1
PW_BS000059
27
15
1
PW_BS000027
46
1
1
4
PW_BS000046
29
1
1
1
PW_BS000029
66
18
5
1
8
PW_BS000066
72
5
1
3
PW_BS000072
61
25
1
7
PW_BS000061
51
8
1
PW_BS000051
23
15
1
1
PW_BS000023
31
1
5
1
1
PW_BS000031
91
8
5
1
1
PW_BS000091
54
1
3
1
5
PW_BS000054
89
2
PW_BS000089
26
1
1
1
5
PW_BS000026
7
1
1
PW_BS000007
97
1
5
2
1
PW_BS000097
100
5
2
1
PW_BS000100
104
14
3
1
PW_BS000104
101
5
3
1
PW_BS000101
111
5
12
1
PW_BS000111
112
2
12
1
PW_BS000112
103
3
3
1
PW_BS000103
117
1
3
1
PW_BS000117
118
1
17
1
PW_BS000118
120
3
17
1
PW_BS000120
129
1
5
12
1
PW_BS000129
132
1
12
1
PW_BS000132
133
3
12
1
PW_BS000133
135
5
17
1
PW_BS000135
108
1
3
PW_BS000108
143
1
5
19
1
PW_BS000143
146
5
19
1
PW_BS000146
107
31
3
PW_BS000107
147
1
24
1
PW_BS000147
151
1
4
1
PW_BS000151
155
3
24
1
PW_BS000155
161
3
18
1
PW_BS000161
166
1
1
PW_BS000166
178
3
21
1
PW_BS000178
188
1
18
PW_BS000024
160
1
18
1
PW_BS000160
199
14
18
1
PW_BS000024
205
5
6
1
PW_BS000024
206
2
6
1
PW_BS000024
210
13
18
1
PW_BS000024
213
7
18
1
PW_BS000024
211
10
18
PW_BS000024
198
5
18
1
PW_BS000024
216
4
18
1
PW_BS000024
217
15
18
PW_BS000024
218
15
18
1
PW_BS000024
163
2
18
1
PW_BS000163
222
3
4
1
PW_BS000024
190
11
18
PW_BS000024
225
35
4
1
PW_BS000024
277
1
2
18
PW_BS000024
170
18
PW_BS000170
281
1
25
1
PW_BS000024
164
4
PW_BS000164
285
10
4
1
PW_BS000024
226
4
4
1
PW_BS000024
290
5
49
1
PW_BS000024
223
12
4
1
PW_BS000024
308
10
1
1
PW_BS000024
315
1
23
PW_BS000024
322
1
23
1
PW_BS000024
318
31
23
PW_BS000024
253
5
4
1
PW_BS000024
134
12
12
1
PW_BS000134
329
14
12
1
PW_BS000028
333
1
2
12
PW_BS000028
336
1
12
1
PW_BS000028
332
1
7
12
1
PW_BS000028
350
1
14
12
1
PW_BS000028
128
15
12
1
PW_BS000128
351
15
12
PW_BS000028
353
25
12
7
PW_BS000028
335
27
12
1
PW_BS000028
115
10
12
PW_BS000115
130
13
12
1
PW_BS000130
331
7
12
1
PW_BS000028
334
4
12
1
PW_BS000028
368
3
60
1
PW_BS000028
184
1
2
1
PW_BS000024
119
2
17
1
PW_BS000119
1
1
PW_BS000001
124
1
5
1
PW_BS000124
94
3
PW_BS000094
388
1
6
1
PW_BS000112
109
32
3
PW_BS000109
122
5
5
1
PW_BS000122
406
3
5
1
PW_BS000115
407
2
5
1
PW_BS000115
382
14
5
1
PW_BS000100
412
1
2
5
PW_BS000115
429
1
5
1
PW_BS000115
123
1
7
5
1
PW_BS000123
433
1
14
5
1
PW_BS000115
408
4
5
1
PW_BS000115
410
15
5
1
PW_BS000115
125
13
5
1
PW_BS000125
383
7
5
1
PW_BS000100
405
10
5
PW_BS000115
422
27
5
1
PW_BS000115
435
15
5
PW_BS000115
399
14
17
1
PW_BS000113
446
1
2
17
PW_BS000115
464
1
17
1
PW_BS000115
447
1
7
17
1
PW_BS000115
468
1
14
17
1
PW_BS000115
374
4
17
1
PW_BS000053
444
15
17
1
PW_BS000115
136
13
17
1
PW_BS000136
398
7
17
1
PW_BS000113
376
10
17
PW_BS000053
472
25
17
7
PW_BS000115
375
27
17
1
PW_BS000053
470
15
17
PW_BS000115
297
5
10
1
PW_BS000024
479
3
10
1
PW_BS000115
299
1
10
1
PW_BS000024
481
2
10
1
PW_BS000115
484
14
10
1
PW_BS000115
485
15
10
1
PW_BS000115
300
13
10
1
PW_BS000024
495
7
10
1
PW_BS000115
478
10
10
PW_BS000115
491
27
10
1
PW_BS000115
499
15
10
PW_BS000115
501
3
6
1
PW_BS000115
389
14
6
1
PW_BS000112
516
15
6
1
PW_BS000115
395
13
6
1
PW_BS000113
390
7
6
1
PW_BS000112
209
10
6
PW_BS000024
508
27
6
1
PW_BS000115
517
15
6
PW_BS000115
15
11
1
PW_BS000015
105
11
3
PW_BS000105
114
11
12
PW_BS000114
409
11
5
PW_BS000115
137
11
17
PW_BS000137
483
11
10
PW_BS000115
249
13
4
1
PW_BS000024
288
14
4
1
PW_BS000024
306
35
51
1
PW_BS000024
17
12
1
1
PW_BS000017
372
10
2
PW_BS000028
384
12
5
1
PW_BS000100
391
12
6
1
PW_BS000112
121
12
17
1
PW_BS000121
9
6
1
1
PW_BS000009
28
1
16
1
1
PW_BS000028
20
4
1
1
1
PW_BS000020
33
18
1
1
PW_BS000033
43
25
1
1
PW_BS000043
24
4
10
1
1
PW_BS000024
60
25
1
PW_BS000060
70
28
5
1
1
PW_BS000070
36
1
20
1
1
PW_BS000036
37
7
21
1
3
PW_BS000037
93
25
20
1
1
PW_BS000093
113
6
12
1
PW_BS000113
110
2
3
1
PW_BS000110
126
6
5
1
PW_BS000126
127
1
16
5
1
PW_BS000127
6
1
3
1
PW_BS000006
140
10
3
PW_BS000140
95
1
7
2
1
PW_BS000095
157
2
24
1
PW_BS000157
159
24
PW_BS000159
180
2
21
1
PW_BS000180
152
8
4
PW_BS000152
207
6
6
1
PW_BS000024
214
25
18
1
PW_BS000024
215
6
18
1
PW_BS000024
212
1
7
18
1
PW_BS000024
224
2
4
1
PW_BS000024
162
12
18
1
PW_BS000162
286
36
4
1
PW_BS000024
287
53
4
1
PW_BS000024
227
34
4
1
PW_BS000024
65
11
1
PW_BS000065
291
6
49
1
PW_BS000024
292
4
49
1
PW_BS000024
298
1
7
10
1
PW_BS000024
301
6
10
1
PW_BS000024
302
1
16
10
1
PW_BS000024
294
11
4
1
PW_BS000024
293
4
1
PW_BS000024
337
1
16
12
1
PW_BS000028
341
4
1
12
1
PW_BS000028
343
18
12
1
PW_BS000028
347
1
3
12
5
PW_BS000028
352
25
12
PW_BS000028
356
25
12
1
PW_BS000028
360
4
10
12
1
PW_BS000028
370
2
60
1
PW_BS000028
228
36
1
PW_BS000024
232
40
3
PW_BS000024
415
18
5
1
PW_BS000115
414
1
5
5
1
PW_BS000115
425
1
3
5
5
PW_BS000115
419
25
5
1
PW_BS000115
434
4
10
5
1
PW_BS000115
436
25
5
PW_BS000115
443
6
17
1
PW_BS000115
448
1
16
17
1
PW_BS000115
451
18
17
1
PW_BS000115
450
1
5
17
1
PW_BS000115
460
1
3
17
5
PW_BS000115
455
25
17
1
PW_BS000115
469
4
10
17
1
PW_BS000115
471
25
17
PW_BS000115
482
4
10
1
PW_BS000115
487
18
10
1
PW_BS000115
490
25
10
1
PW_BS000115
480
12
10
1
PW_BS000115
502
4
6
1
PW_BS000115
208
11
6
PW_BS000024
504
18
6
1
PW_BS000115
507
25
6
1
PW_BS000115
515
4
10
6
1
PW_BS000115
513
1
7
6
1
PW_BS000115
30
17
1
1
PW_BS000030
338
17
12
1
PW_BS000028
413
17
5
1
PW_BS000115
449
17
17
1
PW_BS000115
414
Adenosine triphosphate
HMDB0000538
Adenosine triphosphate (ATP) is a nucleotide consisting of a purine base (adenine) attached to the first carbon atom of ribose (a pentose sugar). Three phosphate groups are esterified at the fifth carbon atom of the ribose. ATP is incorporated into nucleic acids by polymerases in the processes of DNA replication and transcription. ATP contributes to cellular energy charge and participates in overall energy balance, maintaining cellular homeostasis. ATP can act as an extracellular signaling molecule via interactions with specific purinergic receptors to mediate a wide variety of processes as diverse as neurotransmission, inflammation, apoptosis, and bone remodelling. Extracellular ATP and its metabolite adenosine have also been shown to exert a variety of effects on nearly every cell type in human skin, and ATP seems to play a direct role in triggering skin inflammatory, regenerative, and fibrotic responses to mechanical injury, an indirect role in melanocyte proliferation and apoptosis, and a complex role in Langerhans cell-directed adaptive immunity. During exercise, intracellular homeostasis depends on the matching of adenosine triphosphate (ATP) supply and ATP demand. Metabolites play a useful role in communicating the extent of ATP demand to the metabolic supply pathways. Effects as different as proliferation or differentiation, chemotaxis, release of cytokines or lysosomal constituents, and generation of reactive oxygen or nitrogen species are elicited upon stimulation of blood cells with extracellular ATP. The increased concentration of adenosine triphosphate (ATP) in erythrocytes from patients with chronic renal failure (CRF) has been observed in many studies but the mechanism leading to these abnormalities still is controversial. (PMID: 15490415, 15129319, 14707763, 14696970, 11157473).
56-65-5
C00002
5957
15422
ATP
5742
DB00171
NC1=NC=NC2=C1N=CN2[C@@H]1O[C@H](COP(O)(=O)OP(O)(=O)OP(O)(O)=O)[C@@H](O)[C@H]1O
C10H16N5O13P3
InChI=1S/C10H16N5O13P3/c11-8-5-9(13-2-12-8)15(3-14-5)10-7(17)6(16)4(26-10)1-25-30(21,22)28-31(23,24)27-29(18,19)20/h2-4,6-7,10,16-17H,1H2,(H,21,22)(H,23,24)(H2,11,12,13)(H2,18,19,20)/t4-,6-,7-,10-/m1/s1
ZKHQWZAMYRWXGA-KQYNXXCUSA-N
({[({[(2R,3S,4R,5R)-5-(6-amino-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}(hydroxy)phosphoryl)oxy](hydroxy)phosphoryl}oxy)phosphonic acid
507.181
506.995745159
-2.05
7
adenosine triphosphate
0
-3
FDB021813
5'-(tetrahydrogen triphosphate) adenosine;5'-atp;Atp;Adenosine 5'-triphosphate;Adenosine 5'-triphosphorate;Adenosine 5'-triphosphoric acid;Adenosine triphosphate;Adenylpyrophosphorate;Adenylpyrophosphoric acid;Adephos;Adetol;Adynol;Atipi;Atriphos;Cardenosine;Fosfobion;Glucobasin;Myotriphos;Phosphobion;Striadyne;Triadenyl;Triphosphaden;Triphosphoric acid adenosine ester;Adenosine-5'-triphosphate;H4atp;Adenosine triphosphoric acid;Adenosine-5'-triphosphoric acid
PW_C000414
ATP
9
2
21
4
60
8
266
16
414
22
478
13
733
32
799
5
934
39
976
3
2105
18
2112
10
2146
49
2156
14
2160
58
2405
59
2434
27
2726
46
2812
29
3029
66
3163
72
3616
61
3617
51
4399
23
4474
31
4768
91
4864
54
5032
89
5035
26
5155
7
5205
97
5215
100
5250
104
5291
101
5313
111
5346
112
5390
103
5406
117
5430
118
5443
120
5542
129
5556
132
5569
133
5603
135
5621
108
5846
143
5854
146
5876
107
5897
147
5924
151
6048
155
6109
161
6230
166
6493
178
6839
188
6870
160
6976
199
7157
205
7184
206
7209
210
7225
213
7229
211
7298
198
7302
216
7390
217
7408
218
7432
163
7481
222
7499
190
8186
225
11847
277
11903
170
12010
281
12039
164
12178
285
12578
226
12691
290
13264
223
15327
308
42326
315
42621
322
42694
318
77028
253
77218
134
77233
329
77468
333
77632
336
78037
332
78041
350
78168
128
78214
351
78240
353
78411
335
78494
115
78850
130
78865
331
78919
334
80028
368
80046
184
80674
119
85629
1
94826
124
113234
94
113282
388
116280
109
119914
122
119992
406
120154
407
120245
382
120362
412
121246
429
121392
123
121397
433
121471
408
121974
410
122065
125
122079
383
122083
405
122402
422
122444
435
122919
399
123009
446
123816
464
123951
447
123956
468
124029
374
124527
444
124616
136
124630
398
124634
376
124943
472
124972
375
125011
470
125304
297
125371
479
125392
299
125515
481
125595
484
126123
485
126220
300
126234
495
126240
478
126547
491
126596
499
126913
501
127123
389
127731
516
127781
395
127796
390
127801
209
128119
508
128167
517
20
Biotin
HMDB0000030
Biotin is an enzyme co-factor present in minute amounts in every living cell. Biotin is also known as vitamin H or B7 or coenzyme R. It occurs mainly bound to proteins or polypeptides and is abundant in liver, kidney, pancreas, yeast, and milk. Biotin has been recognized as an essential nutrient. Our biotin requirement is fulfilled in part through diet, through endogenous reutilization of biotin and perhaps through capture of biotin generated in the intestinal flora. The utilization of biotin for covalent attachment to carboxylases and its reutilization through the release of carboxylase biotin after proteolytic degradation constitutes the 'biotin cycle'. Biotin deficiency is associated with neurological manifestations, skin rash, hair loss and metabolic disturbances that are thought to relate to the various carboxylase deficiencies (metabolic ketoacidosis with lactic acidosis). It has also been suggested that biotin deficiency is associated with protein malnutrition, and that marginal biotin deficiency in pregnant women may be teratogenic. Biotin acts as a carboxyl carrier in carboxylation reactions. There are four biotin-dependent carboxylases in mammals: those of propionyl-CoA (PCC), 3-methylcrotonyl-CoA (MCC), pyruvate (PC) and acetyl-CoA carboxylases (isoforms ACC-1 and ACC-2). All but ACC-2 are mitochondrial enzymes. The biotin moiety is covalently bound to the epsilon amino group of a Lysine residue in each of these carboxylases in a domain 60-80 amino acids long. The domain is structurally similar among carboxylases from bacteria to mammals. There are four biotin-dependent carboxylases in mammals: those of propionyl-CoA (PCC), 3-methylcrotonyl-CoA (MCC), pyruvate (PC) and acetyl-CoA carboxylases (isoforms ACC-1 and ACC-2). All but ACC-2 are mitochondrial enzymes. The biotin moiety is covalently bound to the epsilon amino group of a Lys residue in each of these carboxylases in a domain 60-80 amino acids long. The domain is structurally similar among carboxylases from bacteria to mammals. Evidence is emerging that biotin participates in processes other than classical carboxylation reactions. Specifically, novel roles for biotin in cell signaling, gene expression, and chromatin structure have been identified in recent years. Human cells accumulate biotin by using both the sodium-dependent multivitamin transporter and monocarboxylate transporter 1. These transporters and other biotin-binding proteins partition biotin to compartments involved in biotin signaling: cytoplasm, mitochondria, and nuclei. The activity of cell signals such as biotinyl-AMP, Sp1 and Sp3, nuclear factor (NF)-kappaB, and receptor tyrosine kinases depends on biotin supply. Consistent with a role for biotin and its catabolites in modulating these cell signals, greater than 2000 biotin-dependent genes have been identified in various human tissues. Many biotin-dependent gene products play roles in signal transduction and localize to the cell nucleus, consistent with a role for biotin in cell signaling. Posttranscriptional events related to ribosomal activity and protein folding may further contribute to effects of biotin on gene expression. Finally, research has shown that biotinidase and holocarboxylase synthetase mediate covalent binding of biotin to histones (DNA-binding proteins), affecting chromatin structure; at least seven biotinylation sites have been identified in human histones. Biotinylation of histones appears to play a role in cell proliferation, gene silencing, and the cellular response to DNA repair. Roles for biotin in cell signaling and chromatin structure are consistent with the notion that biotin has a unique significance in cell biology. (PMID: 15992684, 16011464).
58-85-5
C00120
171548
15956
BIOTIN
149962
DB00121
[H][C@]12CS[C@@H](CCCCC(O)=O)[C@@]1([H])NC(=O)N2
C10H16N2O3S
InChI=1S/C10H16N2O3S/c13-8(14)4-2-1-3-7-9-6(5-16-7)11-10(15)12-9/h6-7,9H,1-5H2,(H,13,14)(H2,11,12,15)/t6-,7-,9-/m0/s1
YBJHBAHKTGYVGT-ZKWXMUAHSA-N
5-[(3aS,4S,6aR)-2-oxo-hexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanoic acid
244.311
244.088163078
-2.30
3
5-[(3aS,4S,6aR)-2-oxo-hexahydrothieno[3,4-d]imidazol-4-yl]pentanoic acid
0
-1
FDB014510
(+)-biotin;(+)-cis-hexahydro-2-oxo-1h-thieno[3,4]imidazole-4-valerate;(+)-cis-hexahydro-2-oxo-1h-thieno[3,4]imidazole-4-valeric acid;(3as,4s,6ar)-hexahydro-2-oxo-1h-thieno[3,4-d]imidazole-4-valerate;(3as,4s,6ar)-hexahydro-2-oxo-1h-thieno[3,4-d]imidazole-4-valeric acid;-(+)-biotin;1swk;1swn;1swr;5-(2-oxohexahydro-1h-thieno[3,4-d]imidazol-4-yl)pentanoate;5-(2-oxohexahydro-1h-thieno[3,4-d]imidazol-4-yl)pentanoic acid;Biodermatin;Bioepiderm;Bios ii;Bios h;Biotin;Coenzyme r;D(+)-biotin;D-(+)-biotin;D-biotin;D-biotin factor s;Factor s;Factor s (vitamin);Hexahydro-2-oxo-1h-thieno(3,4-d)imidazole-4-pentanoate;Hexahydro-2-oxo-1h-thieno(3,4-d)imidazole-4-pentanoic acid;Hexahydro-2-oxo-[3as-(3aa,4b,6aa)]-1h-thieno[3,4-d]imidazole-4-pentanoate;Hexahydro-2-oxo-[3as-(3aa,4b,6aa)]-1h-thieno[3,4-d]imidazole-4-pentanoic acid;Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1h-thieno[3,4-d]imidazole-4-pentanoate;Hexahydro-2-oxo-[3as-(3alpha,4beta,6alpha)]-1h-thieno[3,4-d]imidazole-4-pentanoic acid;Lutavit h2;Meribin;Rovimix h 2;Vitamin b7;Vitamin h;Vitamin-h;Cis-(+)-tetrahydro-2-oxothieno[3,4]imidazoline-4-valerate;Cis-(+)-tetrahydro-2-oxothieno[3,4]imidazoline-4-valeric acid;Cis-hexahydro-2-oxo-1h-thieno(3,4)imidazole-4-valeric acid;Cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid;Delta-(+)-biotin;Delta-biotin;Delta-biotin factor s;Biotina;Biotine;Biotinum
PW_C000020
Biotin
26
4
135
8
579
15
1699
3
2270
2
5292
101
5298
105
5393
103
5449
120
5546
111
5551
114
5575
133
6051
155
6112
161
6496
178
6925
160
7484
222
77831
132
77960
112
80031
368
80653
135
119995
406
120134
122
120503
409
121210
407
121559
124
123109
137
123780
119
124117
118
125374
479
125501
297
125718
483
126421
299
126542
481
126916
501
127038
205
127989
388
128115
206
2092
Biotinyl-5'-AMP
HMDB0004220
5'-biotinyl-AMP (B-AMP) is the active form of biotin in mammals. In human cells, biotin is essential to maintain metabolic homeostasis and as regulator of gene expression. The vitamin biotin plays an essential role in gluconeogenesis, fatty acid synthesis, and carbohydrate metabolism because of its role as cofactor of five carboxylases; pyruvate carboxylase (PC), propionyl-CoA carboxylase (PCC), methylcrotonyl-CoA carboxylase, and two forms of acetyl-CoA carboxylase (ACC-1 and ACC-2). Carboxylase biotinylation is catalyzed by the enzyme holocarboxylase synthetase (HCS) through a reaction that involves the transformation of biotin into B-AMP and its subsequent attachment to a specific lysine residue in the carboxylases. B-AMP is also required to activate a signal transduction cascade that includes a soluble guanylate cyclase (sGC) and cGMP-dependent protein kinase (PKG). The regulatory role of biotin in the biotin cycle seems to be limited to the expression of proteins involved in the transport and utilization of exogenous vitamin while having no effect on biotinidase mRNA levels, enzyme responsible for biotin recycling during carboxylase turnover. Multiple carboxylase deficiency (MCD) is a life-threatening disease characterized by the lack of carboxylase activities because of deficiency of HCS activity. (PMID: 15905112, 11959985).
4130-20-5
C05921
440839
389681
NC1=NC=NC2=C1N=CN2[C@@H]1O[C@H](COP(O)(=O)OC(=O)CCCC[C@@H]2SCC3NC(=O)NC23)[C@@H](O)[C@H]1O
C20H28N7O9PS
InChI=1S/C20H28N7O9PS/c21-17-14-18(23-7-22-17)27(8-24-14)19-16(30)15(29)10(35-19)5-34-37(32,33)36-12(28)4-2-1-3-11-13-9(6-38-11)25-20(31)26-13/h7-11,13,15-16,19,29-30H,1-6H2,(H,32,33)(H2,21,22,23)(H2,25,26,31)/t9?,10-,11+,13?,15-,16-,19-/m1/s1
UTQCSTJVMLODHM-CFYKWCKVSA-N
{[(2R,3S,4R,5R)-5-(6-amino-9H-purin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy}({5-[(4S)-2-oxo-hexahydro-1H-thieno[3,4-d]imidazolidin-4-yl]pentanoyl}oxy)phosphinic acid
573.517
573.140682731
-2.41
6
[(2R,3S,4R,5R)-5-(6-aminopurin-9-yl)-3,4-dihydroxyoxolan-2-yl]methoxy({5-[(4S)-2-oxo-hexahydrothieno[3,4-d]imidazolidin-4-yl]pentanoyl}oxy)phosphinic acid
0
-1
FDB023336
(+)-biotinyl 5'-adenylate;5'-adenylic acid anhydride with biotin;5'-adenylic acid monoanhydride with biotin;B-amp;Bio-5-amp;Biotin anhydride with 5'-adenylic acid;Biotinoyl 5'-adenylate;Biotinyl 5'-amp;[3as-(3aa,4b,6aa)]-5'-adenylic acid monoanhydride with hexahydro-2-oxo-1h-thieno[3,4-d]imidazole-4-pentanoate;[3as-(3aa,4b,6aa)]-5'-adenylic acid monoanhydride with hexahydro-2-oxo-1h-thieno[3,4-d]imidazole-4-pentanoic acid;Beta-amp
PW_C002092
B-5AMP
577
8
5293
101
5547
111
120500
122
123106
135
125715
297
170
Pyrophosphate
HMDB0000250
The anion, the salts, and the esters of pyrophosphoric acid are called pyrophosphates. The pyrophosphate anion is abbreviated PPi and is formed by the hydrolysis of ATP into AMP in cells. This hydrolysis is called pyrophosphorolysis. The pyrophosphate anion has the structure P2O74-, and is an acid anhydride of phosphate. It is unstable in aqueous solution and rapidly hydrolyzes into inorganic phosphate. Pyrophosphate is an osteotoxin (arrests bone development) and an arthritogen (promotes arthritis). It is also a metabotoxin (an endogenously produced metabolite that causes adverse health affects at chronically high levels). Chronically high levels of pyrophosphate are associated with hypophosphatasia. Hypophosphatasia (also called deficiency of alkaline phosphatase or phosphoethanolaminuria) is a rare, and sometimes fatal, metabolic bone disease. Hypophosphatasia is associated with a molecular defect in the gene encoding tissue non-specific alkaline phosphatase (TNSALP). TNSALP is an enzyme that is tethered to the outer surface of osteoblasts and chondrocytes. TNSALP hydrolyzes several substances, including inorganic pyrophosphate (PPi) and pyridoxal 5'-phosphate (PLP), a major form of vitamin B6. When TSNALP is low, inorganic pyrophosphate (PPi) accumulates outside of cells and inhibits the formation of hydroxyapatite, one of the main components of bone, causing rickets in infants and children and osteomalacia (soft bones) in adults. Vitamin B6 must be dephosphorylated by TNSALP before it can cross the cell membrane. Vitamin B6 deficiency in the brain impairs synthesis of neurotransmitters which can cause seizures. In some cases, a build-up of calcium pyrophosphate dihydrate crystals in the joints can cause pseudogout.
14000-31-8
C00013
644102
18361
PPI
559142
DB04160
[O-]P([O-])(=O)OP([O-])([O-])=O
O7P2
InChI=1S/H4O7P2/c1-8(2,3)7-9(4,5)6/h(H2,1,2,3)(H2,4,5,6)/p-4
XPPKVPWEQAFLFU-UHFFFAOYSA-J
(phosphonooxy)phosphonic acid
173.9433
173.911925378
4
pyrophosphoric acid
0
-3
FDB021918
(4-)diphosphoric acid ion;(p2o74-)diphosphate;Diphosphate;Diphosphoric acid;Ppi;Pyrometaphosphate;Pyrophosphate;Pyrophosphate tetraanion;Pyrophosphate(4-) ion;[o3popo3](4-);Diphosphat;P2o7(4-);Pyrophosphat;Pyrophosphate ion;Phosphonato phosphoric acid;Pyrophosphoric acid;Pyrophosphoric acid ion
PW_C000170
Ppi
12
2
35
4
63
8
429
23
735
32
882
22
1217
3
1620
49
2410
59
2815
29
4175
14
4868
54
5034
89
5252
104
5294
101
5409
117
5424
103
5433
118
5458
120
5548
111
5559
132
5584
133
5606
135
5655
108
5879
107
6239
166
6978
199
7073
188
7134
163
7272
160
7312
198
7318
213
8275
151
8283
210
11869
161
12002
222
12041
164
12315
225
12323
249
12512
288
12579
226
12695
290
15219
306
15375
18
34760
17
42561
315
42697
318
77235
329
77317
128
77635
336
78416
335
78928
331
79153
112
79950
134
79958
130
80047
372
80417
170
85630
1
94786
384
94814
125
94819
382
98678
223
110634
391
113270
395
113275
389
115527
136
115532
399
119934
122
120017
124
120032
406
120330
410
120936
407
121261
429
121341
121
121486
383
122407
422
122985
444
123502
119
123831
464
124044
398
124977
375
125324
297
125395
299
125410
479
125597
484
125656
485
125876
481
126552
491
126869
205
126935
388
126950
501
127337
206
128124
508
1785
Biocytin
HMDB0003134
Biocytin is a naturally occurring low molecular weight analog of biotin, and a primary source of this essential metabolite for mammals. Biotinidase acts as a hydrolase by cleaving biocytin and biotinyl-peptides, thereby liberating biotin for reutilization. Mammals cannot synthesize biotin and, therefore, derive the vitamin from dietary sources or from the endogenous turnover of the carboxylases. Free biotin can readily enter the biotin pool, whereas holocarboxylases or other biotin-containing proteins must first be degraded proteolytically to biocytin (biotinyl-e-lysine) or biotinyl-peptides. Biocytin is also an especially versatile marker for neuroanatomical investigations, shown that may have multiple applications, especially for labeling neurons. (PMID: 8930409, 1384763, 2479450).
576-19-2
C05552
7098660
27870
75634
[H][C@]12CS[C@@H](CCCCC(=O)NCCCC[C@H](N)C(O)=O)[C@@]1([H])NC(=O)N2
C16H28N4O4S
InChI=1S/C16H28N4O4S/c17-10(15(22)23)5-3-4-8-18-13(21)7-2-1-6-12-14-11(9-25-12)19-16(24)20-14/h10-12,14H,1-9,17H2,(H,18,21)(H,22,23)(H2,19,20,24)/t10-,11-,12-,14-/m0/s1
BAQMYDQNMFBZNA-MNXVOIDGSA-N
(2S)-6-{5-[(3aS,4S,6aR)-2-oxo-hexahydro-1H-thieno[3,4-d]imidazol-4-yl]pentanamido}-2-aminohexanoic acid
372.483
372.183126094
-3.33
5
(2S)-6-{5-[(3aS,4S,6aR)-2-oxo-hexahydrothieno[3,4-d]imidazol-4-yl]pentanamido}-2-aminohexanoic acid
0
0
FDB023111
Biotinyl-l-lysine;H-lys(biotinyl)-oh;N-epsilon-biotin-l-lysine;N6-d-biotinyl-l-lysine;N6-delta-biotinyl-l-lysine;Ne-biotynyl-l-lysine;Epsilon-n-biotinyl-l-lysine;(3as-(3aalpha,4beta,6aalpha))-n(6)-(5-(hexahydro-2-oxo-1h-thieno(3,4-d)imidazol-4-yl)-1-oxopentyl)-l-lysine;Epsilon-n-biotinyllysine;N(epsilon)-biotinyl-l-lysine;N-biotinyl-l-lysine;N(6)-d-biotinyl-l-lysine;(3as-(3aalpha,4b,6aalpha))-n(6)-(5-(hexahydro-2-oxo-1h-thieno(3,4-d)imidazol-4-yl)-1-oxopentyl)-l-lysine;(3as-(3aalpha,4β,6aalpha))-n(6)-(5-(hexahydro-2-oxo-1h-thieno(3,4-d)imidazol-4-yl)-1-oxopentyl)-l-lysine
PW_C001785
Biocytn
580
15
583
18
585
8
586
3
5296
105
5301
101
5550
114
5554
111
120502
409
120506
122
123108
137
123112
135
125717
483
125721
297
1420
Water
HMDB0002111
Water is a chemical substance that is essential to all known forms of life. It appears colorless to the naked eye in small quantities, though it is actually slightly blue in color. It covers 71% of Earth's surface. Current estimates suggest that there are 1.4 billion cubic kilometers (330 million m3) of it available on Earth, and it exists in many forms. It appears mostly in the oceans (saltwater) and polar ice caps, but it is also present as clouds, rain water, rivers, freshwater aquifers, lakes, and sea ice. Water in these bodies perpetually moves through a cycle of evaporation, precipitation, and runoff to the sea. Clean water is essential to human life. In many parts of the world, it is in short supply. From a biological standpoint, water has many distinct properties that are critical for the proliferation of life that set it apart from other substances. It carries out this role by allowing organic compounds to react in ways that ultimately allow replication. All known forms of life depend on water. Water is vital both as a solvent in which many of the body's solutes dissolve and as an essential part of many metabolic processes within the body. Metabolism is the sum total of anabolism and catabolism. In anabolism, water is removed from molecules (through energy requiring enzymatic chemical reactions) in order to grow larger molecules (e.g. starches, triglycerides and proteins for storage of fuels and information). In catabolism, water is used to break bonds in order to generate smaller molecules (e.g. glucose, fatty acids and amino acids to be used for fuels for energy use or other purposes). Water is thus essential and central to these metabolic processes. Water is also central to photosynthesis and respiration. Photosynthetic cells use the sun's energy to split off water's hydrogen from oxygen. Hydrogen is combined with CO2 (absorbed from air or water) to form glucose and release oxygen. All living cells use such fuels and oxidize the hydrogen and carbon to capture the sun's energy and reform water and CO2 in the process (cellular respiration). Water is also central to acid-base neutrality and enzyme function. An acid, a hydrogen ion (H+, that is, a proton) donor, can be neutralized by a base, a proton acceptor such as hydroxide ion (OH-) to form water. Water is considered to be neutral, with a pH (the negative log of the hydrogen ion concentration) of 7. Acids have pH values less than 7 while bases have values greater than 7. Stomach acid (HCl) is useful to digestion. However, its corrosive effect on the esophagus during reflux can temporarily be neutralized by ingestion of a base such as aluminum hydroxide to produce the neutral molecules water and the salt aluminum chloride. Human biochemistry that involves enzymes usually performs optimally around a biologically neutral pH of 7.4. (Wikipedia).
7732-18-5
C00001
962
15377
937
O
H2O
InChI=1S/H2O/h1H2
XLYOFNOQVPJJNP-UHFFFAOYSA-N
water
18.0153
18.010564686
1
water
0
0
FDB013390
Dihydrogen oxide;Steam;[oh2];Acqua;Agua;Aqua;Bound water;Dihydridooxygen;Eau;H2o;Hoh;Hydrogen hydroxide;Wasser
PW_C001420
H2O
55
8
94
9
109
5
139
4
151
3
162
14
481
13
526
15
624
28
652
10
691
20
770
33
823
18
838
2
1094
31
1377
49
1465
54
1590
43
2018
24
2532
22
2678
60
2727
46
2778
17
2805
29
3143
70
3164
72
3634
61
4598
36
4727
37
4941
93
5030
27
5156
7
5195
97
5214
100
5227
94
5236
103
5297
105
5319
111
5343
113
5355
112
5402
110
5470
123
5483
125
5492
126
5507
127
5534
130
5537
114
5541
129
5591
135
5608
118
5622
108
5691
6
5759
140
5778
101
5841
143
5853
146
5877
107
5890
95
5910
147
5940
151
6032
155
6059
157
6087
161
6123
163
6133
159
6215
1
6218
166
6477
178
6507
180
6600
152
6713
117
6840
188
6888
160
7162
205
7181
207
7193
206
7211
211
7228
213
7238
214
7243
215
7295
198
7350
216
7388
210
7401
212
7467
222
7492
224
7500
190
7588
170
8201
225
8237
226
8414
162
9265
26
11850
277
11922
164
12011
281
12213
285
12250
286
12264
287
12327
249
12520
227
12632
65
12693
290
12705
291
12715
292
13007
298
13019
300
13025
301
13037
302
13261
223
13327
294
15340
308
42327
315
42695
318
43691
322
76914
293
77019
253
77102
132
77131
133
77215
134
77378
331
77397
332
77471
333
77516
115
77536
334
77628
336
77722
337
77759
341
77816
343
77982
347
78071
329
78235
352
78242
353
78270
356
79113
360
80014
368
80039
370
80591
228
80656
119
93830
383
94794
384
110557
390
110639
391
115844
398
119879
232
119915
122
119963
406
120008
407
120046
408
120113
124
120365
412
120430
405
120438
409
120606
415
120794
414
121158
425
121240
429
121351
121
121381
419
121607
434
122118
382
122384
436
122753
120
122797
374
122804
443
123012
446
123064
376
123072
137
123131
447
123142
136
123162
448
123231
451
123384
450
123730
460
123810
464
123940
455
124165
469
124670
399
124938
471
124945
472
125305
297
125353
479
125386
481
125424
482
125480
299
125682
483
125707
478
125745
487
126054
490
126238
495
126273
484
126764
480
126896
501
126963
502
127017
388
127177
208
127199
209
127227
504
127506
507
127576
515
127836
389
128082
395
128176
513
118
L-Lysine
HMDB0000182
L-lysine is an essential amino acid. Normal requirements for lysine have been found to be about 8 g per day or 12 mg/kg in adults. Children and infants need more- 44 mg/kg per day for an eleven to-twelve-year old, and 97 mg/kg per day for three-to six-month old. Lysine is highly concentrated in muscle compared to most other amino acids. Lysine is high in foods such as wheat germ, cottage cheese and chicken. Of meat products, wild game and pork have the highest concentration of lysine. Fruits and vegetables contain little lysine, except avocados. Normal lysine metabolism is dependent upon many nutrients including niacin, vitamin B6, riboflavin, vitamin C, glutamic acid and iron. Excess arginine antagonizes lysine. Several inborn errors of lysine metabolism are known. Most are marked by mental retardation with occasional diverse symptoms such as absence of secondary sex characteristics, undescended testes, abnormal facial structure, anemia, obesity, enlarged liver and spleen, and eye muscle imbalance. Lysine also may be a useful adjunct in the treatment of osteoporosis. Although high protein diets result in loss of large amounts of calcium in urine, so does lysine deficiency. Lysine may be an adjunct therapy because it reduces calcium losses in urine. Lysine deficiency also may result in immunodeficiency. Requirements for this amino acid are probably increased by stress. Lysine toxicity has not occurred with oral doses in humans. Lysine dosages are presently too small and may fail to reach the concentrations necessary to prove potential therapeutic applications. Lysine metabolites, amino caproic acid and carnitine have already shown their therapeutic potential. Thirty grams daily of amino caproic acid has been used as an initial daily dose in treating blood clotting disorders, indicating that the proper doses of lysine, its precursor, have yet to be used in medicine. Low lysine levels have been found in patients with Parkinson's, hypothyroidism, kidney disease, asthma and depression. The exact significance of these levels is unclear, yet lysine therapy can normalize the level and has been associated with improvement of some patients with these conditions. Abnormally elevated hydroxylysines have been found in virtually all chronic degenerative diseases and coumadin therapy. The levels of this stress marker may be improved by high doses of vitamin C. Lysine is particularly useful in therapy for marasmus (wasting) and herpes simplex. It stops the growth of herpes simplex in culture, and has helped to reduce the number and occurrence of cold sores in clinical studies. Dosing has not been adequately studied, but beneficial clinical effects occur in doses ranging from 100 mg to 4 g a day. Higher doses may also be useful, and toxicity has not been reported in doses as high as 8 g per day. Diets high in lysine and low in arginine can be useful in the prevention and treatment of herpes. Some researchers think herpes simplex virus is involved in many other diseases related to cranial nerves such as migraines, Bell's palsy and Meniere's disease. Herpes blister fluid will produce fatal encephalitis in the rabbit. (http://www.dcnutrition.com).
56-87-1
C00047
5962
18019
LYS
5747
DB00123
NCCCC[C@H](N)C(O)=O
C6H14N2O2
InChI=1S/C6H14N2O2/c7-4-2-1-3-5(8)6(9)10/h5H,1-4,7-8H2,(H,9,10)/t5-/m0/s1
KDXKERNSBIXSRK-YFKPBYRVSA-N
(2S)-2,6-diaminohexanoic acid
146.1876
146.105527702
-0.14
3
L-lysine
0
1
FDB000474
(+)-s-lysine;(s)-2,6-diaminohexanoate;(s)-2,6-diaminohexanoic acid;(s)-2,6-diamino-hexanoate;(s)-2,6-diamino-hexanoic acid;(s)-lysine;(s)-a,e-diaminocaproate;(s)-a,e-diaminocaproic acid;2,6-diaminohexanoate;2,6-diaminohexanoic acid;6-amino-aminutrin;6-amino-l-norleucine;Aminutrin;L-(+)-lysine;L-2,6-diainohexanoate;L-2,6-diainohexanoic acid;L-2,6-diaminocaproate;L-2,6-diaminocaproic acid;L-lys;Lys;Lysine;Lysine acid;A-lysine;Alpha-lysine;H-lys-oh;(s)-alpha,epsilon-diaminocaproic acid;6-ammonio-l-norleucine;K;L-lysin;(s)-a,epsilon-diaminocaproate;(s)-a,epsilon-diaminocaproic acid;(s)-alpha,epsilon-diaminocaproate;(s)-α,epsilon-diaminocaproate;(s)-α,epsilon-diaminocaproic acid
PW_C000118
Lys
581
15
632
30
1065
3
1091
8
5299
105
5303
107
5304
108
5552
114
8214
225
42370
318
42371
315
77730
338
78275
112
78287
111
120504
409
120536
413
120780
407
120807
122
123110
137
123170
449
123372
119
123392
135
125719
483
15
Biotin-Carboxyl Carrying Protein
ProteinComplex
PW_EC000015
O00763
UniProt
BCCP
7792
Biotin--protein ligase
Q920N2
Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase (By similarity).
Hlcs
12
6.3.4.-; 6.3.4.9; 6.3.4.10; 6.3.4.11; 6.3.4.15
5549
111
7793
Vascular non-inflammatory molecule 3
Q9QZ25
Amidohydrolase that hydrolyzes specifically one of the carboamide linkages in D-pantetheine thus recycling pantothenic acid (vitamin B5) and releasing cysteamine.
Vnn3
12
3.5.1.92
5553
114
7794
Signal peptidase complex subunit 1
Q9D958
Component of the microsomal signal peptidase complex which removes signal peptides from nascent proteins as they are translocated into the lumen of the endoplasmic reticulum.
Spcs1
12
3.4.-.-
5555
130
1329
Biotin--protein ligase
12
PW_P001329
1550
7792
1
1330
Biotinidase
12
PW_P001330
1551
7793
1
1331
Signal peptidase complex subunit 1
12
PW_P001331
1552
7794
1
109861
false
PW_R109861
Right
399319
414
1
Compound
true
399320
20
1
Compound
false
399321
2092
1
Compound
false
399322
170
1
Compound
true
100141
1329
109862
false
PW_R109862
Right
399323
1785
1
Compound
false
399324
1420
1
Compound
true
399325
20
1
Compound
false
399326
118
1
Compound
false
100142
1330
3.5.1.12
109863
false
PW_R109863
Right
399327
2092
1
Compound
false
399328
15
1
ElementCollection
false
100143
1329
109864
false
PW_R109864
Right
399329
15
1
ElementCollection
false
399330
1785
1
Compound
false
100144
1331
3.4.-.-
346
PW_T000346
396
20
1
Compound
114
111
Right
347
PW_T000347
397
1785
1
Compound
111
114
Right
1582287
414
111
42
false
220
520
10
regular
50
30
1582288
20
111
81
false
247
230
10
regular
200
190
1582289
2092
111
82
false
195
900
10
regular
300
280
1582290
170
111
45
false
220
758
10
regular
63
43
1582291
1785
114
82
false
1367
1455
10
regular
300
280
1582292
1420
114
49
false
1632
1095
10
regular
78
78
1582293
20
114
81
false
1417
230
10
regular
200
190
1582294
118
114
81
false
1627
760
10
regular
200
190
1582295
1785
111
82
false
805
1455
10
regular
300
280
9244
15
37
111
false
295
1535
12
regular
100
90
592013
7792
111
2
false
272
620
8
subunit
regular
150
70
592014
7793
114
2
false
1442
955
8
subunit
regular
150
70
592015
7792
111
2
false
270
1300
8
subunit
regular
150
70
592016
7794
130
2
false
535
1560
8
subunit
regular
150
70
480764
1329
64324
111
590857
592013
480765
1330
64324
114
590858
592014
480766
1329
64324
111
590859
592015
480767
1331
64324
130
590860
592016
2155804
M270 535 C306 537 347 590 347 620
5
false
18
2155805
M347 420 C347 450 347 590 347 620
5
false
18
2155806
M345 900 C345 870 347 720 347 690
5
false
18
true
M 25.946855044164835 13.26155629629604 L 11 12 L 17.380887721185843 25.575134323078345
false
2155807
M283 779.5 C316 779.5 347 720 347 690
5
false
18
true
M 25.946855044164835 13.26155629629604 L 11 12 L 17.380887721185843 25.575134323078345
false
2155808
M1517 1455 C1517 1425 1517 1055 1517 1025
5
false
18
2155809
M1632 1134 C1548 1131 1517 1055 1517 1025
5
false
18
2155810
M1517 420 C1517 450 1517 925 1517 955
5
false
18
true
M 25.946855044164835 13.26155629629604 L 11 12 L 17.380887721185843 25.575134323078345
false
2155811
M1627 855 C1557 852 1517 925 1517 955
5
false
18
true
M 25.946855044164835 13.26155629629604 L 11 12 L 17.380887721185843 25.575134323078345
false
2155812
M345 1180 C345 1210 345 1270 345 1300
5
false
18
2155813
M345 1535 C345 1505 345 1400 345 1370
5
false
18
true
M 567.5 1532.0096189432334 L 575 1545 L 582.5 1532.0096189432334
false
2155814
M805 1595 C775 1595 715 1595 685 1595
5
false
18
true
M 25.946855044164835 13.26155629629604 L 11 12 L 17.380887721185843 25.575134323078345
false
2155815
M395 1595 C425 1595 505 1595 535 1595
5
false
18
2155816
M1417 325 C1368 325 498 325 447 325
83
false
18
true
M 634.9903810567666 387.5 L 622 395 L 634.9903810567666 402.5
false
2155817
M447 325 C477 325 673 378 697 395
83
true
18
2155818
M1105 1595 C1135 1595 1315 1595 1367 1595
83
false
18
true
M 1614.0096189432334 1612.5 L 1627 1605 L 1614.0096189432334 1597.5
false
2155819
M1367 1595 C1337 1595 1327 1588 1351 1605
83
true
18
2155820
M1727 760 C1727 730 1727 650 1727 620
5
false
18
true
M 1734.5 572.9903810567666 L 1727 560 L 1719.5 572.9903810567666
false
486960
64324
109861
111
1952136
1582287
2155804
Left
1952137
1582288
2155805
Left
1952138
1582289
2155806
Right
1952139
1582290
2155807
Right
445502
100141
480764
486961
64324
109862
114
1952140
1582291
2155808
Left
1952141
1582292
2155809
Left
1952142
1582293
2155810
Right
1952143
1582294
2155811
Right
445503
100142
480765
486962
64324
109863
111
1952144
1582289
2155812
Left
9774
9244
2155813
Right
445504
100143
480766
486963
64324
109864
130
1952145
1582295
2155814
Right
9775
9244
2155815
Left
445505
100144
480767
22852
346
64324
46411
1582293
2155816
Left
46412
1582288
2155817
Right
22853
347
64324
46413
1582295
2155818
Left
46414
1582291
2155819
Right
56884
57481
64324
14
false
1652
550
16
regular
53921
1582294
2155820
Left
103486
66
410
1301
1.3
1.3
0
2
3
280
360
220074
M88 185 C88 135 138 85 188 85 C465 85 826 85 1103 85 C1153 85 1203 135 1203 185 C1203 650 1203 1254 1203 1719 C1203 1769 1153 1819 1103 1819 C826 1819 465 1819 188 1819 C138 1819 88 1769 88 1719 C88 1254 88 650 88 185
1
true
6
1115.0
1734.0
244692
15
Intracellular Space
170
140
20
1.0
1.0
160
15
244693
15
Extracellular Space
1290
140
20
1.0
1.0
160
15
244694
15
Endoplastic Reticulum
485
1430
20
1.0
1.0
160
15
Biotinidase Deficiency
Biotinidase deficiency (Multiple carboxylase deficiency) is an autosomal recessive disease caused by a mutation in the BTD gene which codes for biotinidase. A deficiency in this enzyme results in accumulation of ammonia and ketone bodies in blood; 3-hydroxyisovaleric acid in plasma, spinal fluid, and urine; hydroxypropionic acid, 2-hydroxybutyric acid, 3-Hydroxybutyric acid, and citric acid in spinal fluid; and 3-methylcrotonylglycine, hydroxypropionic acid, and L and D-lactic acid in urine. Symptoms, which can present from birth into adulthood include hypotonia, ketosis, hyperammonemia, motor retardation, coma, and seborrhoic skin rash. Treatment includes biotin.
Disease
PW_X008918
Complete
Context8918
48370
15389
Protein
Mutated
48371
24
Tissue
Damaged
48372
16
Tissue
Damaged
48373
17
Tissue
Damaged
48374
9
Tissue
Damaged
278295
20301497
Wolf B: Biotinidase Deficiency
8918
Context
279379
22579707
Pindolia K, Chen J, Cardwell C, Cui X, Chopp M, Wolf B: Neurological deficits in mice with profound biotinidase deficiency are associated with demylination and axonal degeneration. Neurobiol Dis. 2012 Sep;47(3):428-35. doi: 10.1016/j.nbd.2012.04.016. Epub 2012 May 8.
8918
Context