InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HLCS

Summary

InnateDB Protein

IDBP-231446.5

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

ENSP00000382071

InnateDB Gene

IDBG-3035 (HLCS)

Protein Structure

UniProt Annotation

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

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