BPL1_HUMAN
Source:
hRBCD
; ID:
IPI00301907
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
HLCS
Protein names and data:
BPL1_HUMAN
, Biotin--protein ligase; 6.3.4.-
, Biotin apo-protein ligase; Biotin--[methylmalonyl-CoA-carboxytransferase] ligase; 6.3.4.9; Biotin--[propionyl-CoA-carboxylase [ATP-hydrolyzing]] ligase; 6.3.4.10; Holocarboxylase synthetase; HCS; Biotin--[methylcrotonoyl-CoA-carboxylase] ligase; 6.3.4.11; Biotin--[acetyl-CoA-carboxylase] ligase; 6.3.4.15
Lenght: 726 a.a.
Mass: 80760 Da
fasta formatted sequence
Function:
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.
Catalytic activity:
ATP + biotin + apo-[methylmalonyl-CoA:pyruvate carboxytransferase] = AMP + diphosphate + [methylmalonyl- CoA:pyruvate carboxytransferase]. ATP + biotin + apo-[propionyl-CoA:carbon- dioxide ligase (ADP-forming)] = AMP + diphosphate + [propionyl- CoA:carbon-dioxide ligase (ADP-forming)]. ATP + biotin + apo-[3-methylcrotonoyl- CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [3- methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)]. ATP + biotin + apo-[acetyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [acetyl-CoA:carbon- dioxide ligase (ADP-forming)].
Disease:
( OMIM:
253270
609018
)
Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]: A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Cytoplasm. Mitochondrion.
Tissue specificity:
Mostly expressed in muscle, placenta, in lesser extent in the brain, kidney, pancreas, liver and lung.
Genetic variants
42 - 42
E -> D (in HLCS deficiency and a breast cancer sample; somatic mutation; conserves enzymatic wild-type activity; unknown pathological significance). VAR_035800
183 - 183
R -> P (in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant)). VAR_046507
216 - 216
L -> R (in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant); growth of patients' fibroblasts is compromised compared with normal fibroblasts; patients cells are not sensitive to biotin-depletion from the media; growth rates cannot be restored by re-administration of biotin; enzyme activity is severely compromised and cannot be increased by additional biotin; turn-over rate for the mutant protein is double that of wild-type enzyme; dbSNP:rs28934602). VAR_021218
28934602
237 - 237
L -> P (in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant)). VAR_005084
333 - 333
V -> E (in HLCS deficiency; <10% activity; has normal or low KM values for biotin (non-KM mutant)). VAR_009196
360 - 360
R -> S (in HLCS deficiency; 22% activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild- type form). VAR_046508
363 - 363
V -> D (in HLCS deficiency; has normal or low KM values for biotin (non-KM mutant)). VAR_046509
456 - 456
Y -> C (in HLCS deficiency; 0.2% activity). VAR_046510
462 - 462
T -> I (in HLCS deficiency; <10% activity). VAR_009197
470 - 470
L -> S (in HLCS deficiency; 4.3% activity). VAR_046511
508 - 508
R -> W (in HLCS deficiency). VAR_013009
511 - 511
N -> K (in HLCS deficiency). VAR_021219
518 - 518
G -> E (in HLCS deficiency). VAR_046512
547 - 547
V -> G (in HLCS deficiency; 3.4% activity). VAR_046513
550 - 550
V -> M (in HLCS deficiency). VAR_009198
571 - 571
D -> N (in HLCS deficiency; almost no activity). VAR_009199
581 - 581
G -> S (in HLCS deficiency; <10% activity). VAR_009200
582 - 582
G -> R (in HLCS deficiency). VAR_021220
610 - 610
Missing (in HLCS deficiency; 14% of activity; shows elevated KM values for biotin (KM mutant) compared with that of the wild-type form). VAR_009201
615 - 615
D -> Y (in HLCS deficiency). VAR_046514
634 - 634
D -> N (in HLCS deficiency). VAR_046515
634 - 634
D -> Y (in HLCS deficiency; 12% activity). VAR_046516
715 - 715
D -> G (in HLCS deficiency). VAR_046517
Database cross-references
UniProt:
P50747
Ensembl:
ENST00000336648
Ensembl:
ENST00000399120
Ensembl:
ENST00000448340
MIM:
253270
MIM:
609018
neXtProt:
NX_P50747
Antibodypedia:
P50747
(may not find the protein thus also not any antibody)
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