InnateDB Protein
|
IDBP-3037.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
HLCS
|
Protein Name
|
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
|
Synonyms
|
HCS;
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000338387
|
InnateDB Gene
|
IDBG-3035 (HLCS)
|
Protein Structure
|
|
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.
|
Subcellular Localization |
Cytoplasm. Mitochondrion.
|
Disease Associations |
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. {ECO:0000269PubMed:10190325, ECO:0000269PubMed:10590022, ECO:0000269PubMed:11735028, ECO:0000269PubMed:12124727, ECO:0000269PubMed:12633764, ECO:0000269PubMed:16134170, ECO:0000269PubMed:7842009, ECO:0000269PubMed:8541348, ECO:0000269PubMed:8817339, ECO:0000269PubMed:9396568}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
Tissue Specificity |
Mostly expressed in muscle, placenta, in lesser extent in the brain, kidney, pancreas, liver and lung.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
9
[view]
|
Protein-Protein |
9
[view]
|
Protein-DNA |
0
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR003142
Biotin protein ligase, C-terminal
IPR004143
Biotin/lipoate A/B protein ligase
IPR004408
Biotin--acetyl-CoA-carboxylase ligase
|
PFAM |
PF02237
PF03099
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P50747
|
PhosphoSite |
PhosphoSite-P50747
|
TrEMBL |
C9JD75
|
UniProt Splice Variant |
|
Entrez Gene |
3141
|
UniGene |
Hs.613792
|
RefSeq |
NP_000402
|
HUGO |
HGNC:4976
|
OMIM |
609018
|
CCDS |
CCDS13647
|
HPRD |
08360
|
IMGT |
|
EMBL |
AB063285
AJ001864
AK307940
AK314189
AP000697
AP000698
AP000699
AP000700
AP000701
AP000702
AP000703
AP000704
AP001726
AP001727
BC060787
CH471079
D23672
D87328
|
GenPept |
AAH60787
BAA04902
BAA13332
BAA89434
BAA95510
BAA95511
BAB68550
BAG36868
CAA05056
EAX09731
EAX09732
|
|
|