InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-3037

holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)

IDBP-231446

holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)

IDBP-365132

holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)

IDBP-365135

holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)

IDBP-365140

holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)

IDBP-809584

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

ENSMUSG00000040820

View Gene Order

ENSBTAG00000033679

Not yet available

Pathways

NETPATH

REACTOME

REACT_11153

Biotin transport and metabolism pathway

REACT_169312

Defective HLCS causes multiple carboxylase deficiency pathway

REACT_169313

Defective MUT causes methylmalonic aciduria mut type pathway

REACT_169316

Defective MMAA causes methylmalonic aciduria type cblA pathway

REACT_169120

Defective TCN2 causes hereditary megaloblastic anemia pathway

REACT_11238

Metabolism of water-soluble vitamins and cofactors pathway

REACT_169280

Defective AMN causes hereditary megaloblastic anemia 1 pathway

REACT_169149

Defective MTR causes methylmalonic aciduria and homocystinuria type cblG pathway

REACT_169363

Defective LMBRD1 causes methylmalonic aciduria and homocystinuria type cblF pathway

REACT_169178

Defective CD320 causes methylmalonic aciduria pathway

REACT_169429

Defects in cobalamin (B12) metabolism pathway

REACT_169169

Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC pathway

REACT_169238

Defects in biotin (Btn) metabolism pathway

REACT_169403

Defective BTD causes biotidinase deficiency pathway

REACT_169415

Defective GIF causes intrinsic factor deficiency pathway

REACT_169385

Defects in vitamin and cofactor metabolism pathway

REACT_169132

Defective CUBN causes hereditary megaloblastic anemia 1 pathway

REACT_169256

Defective MMADHC causes methylmalonic aciduria and homocystinuria type cblD pathway

REACT_169439

Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE pathway

REACT_111217

Metabolism pathway

REACT_169318

Defective MMAB causes methylmalonic aciduria type cblB pathway

REACT_116125

Disease pathway

REACT_11193

Metabolism of vitamins and cofactors pathway

KEGG

hsa00780

Biotin metabolism pathway

INOH

PID NCI

Cross-References

SwissProt

P50747

TrEMBL

C9JCQ9 C9JD75

UniProt Splice Variant

Entrez Gene

3141

UniGene

Hs.371350 Hs.613792

RefSeq

NM_000411 NM_001242784 NM_001242785 XM_005260953 XM_005260955 XM_005260956 XM_006723993 XM_006723994 XM_006723995 XM_006723996

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