Homo sapiens Gene: HLCS
Summary
InnateDB Gene IDBG-3035.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HLCS
Gene Name holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
Synonyms HCS;
Species Homo sapiens
Ensembl Gene ENSG00000159267
Encoded Proteins
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:36750888-36990236
Strand Reverse strand
Band q22.13
Transcripts
ENST00000336648 ENSP00000338387
ENST00000399120 ENSP00000382071
ENST00000448340 ENSP00000392923
ENST00000419461 ENSP00000396370
ENST00000427746 ENSP00000396443
ENST00000482273
ENST00000612277 ENSP00000479939
Interactions
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
Gene Ontology

Molecular Function
Accession GO Term
GO:0004077 biotin-[acetyl-CoA-carboxylase] ligase activity
GO:0004078 biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity
GO:0004079 biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity
GO:0004080 biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0009374 biotin binding
GO:0018271 biotin-protein ligase activity
GO:0019899 enzyme binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0006464 cellular protein modification process
GO:0006766 vitamin metabolic process
GO:0006767 water-soluble vitamin metabolic process
GO:0006768 biotin metabolic process
GO:0008283 cell proliferation
GO:0009305 protein biotinylation
GO:0016570 histone modification
GO:0044281 small molecule metabolic process
GO:0070781 response to biotin
GO:0071110 histone biotinylation
Cellular Component
GO:0000785 chromatin
GO:0005652 nuclear lamina
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol
GO:0016363 nuclear matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Defective HLCS causes multiple carboxylase deficiency pathway
Defective MUT causes methylmalonic aciduria mut type pathway
Defective MMAA causes methylmalonic aciduria type cblA pathway
Defective TCN2 causes hereditary megaloblastic anemia pathway
Metabolism of water-soluble vitamins and cofactors pathway
Defective AMN causes hereditary megaloblastic anemia 1 pathway
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway
Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway
Defective CD320 causes methylmalonic aciduria pathway
Defects in cobalamin (B12) metabolism pathway
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway
Defects in biotin (Btn) metabolism pathway
Defective BTD causes biotidinase deficiency pathway
Defective GIF causes intrinsic factor deficiency pathway
Defects in vitamin and cofactor metabolism pathway
Defective CUBN causes hereditary megaloblastic anemia 1 pathway
Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway
Metabolism pathway
Defective MMAB causes methylmalonic aciduria type cblB pathway
Biotin transport and metabolism pathway
Disease pathway
Metabolism of vitamins and cofactors pathway
KEGG
Biotin metabolism pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P50747
TrEMBL C9JCQ9 C9JD75
UniProt Splice Variant
Entrez Gene 3141
UniGene Hs.371350 Hs.613792
RefSeq NM_000411 NM_001242785 NM_001242784 XM_006723996 XM_006723994 XM_005260956 XM_005260955 XM_006723993 XM_005260953 XM_006723995
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
RNA Seq Atlas 3141