InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BTD

Summary

InnateDB Protein

IDBP-21078.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BTD

Protein Name

biotinidase

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000306477

InnateDB Gene

IDBG-21076 (BTD)

Protein Structure

UniProt Annotation

Function

Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation.

Subcellular Localization

Secreted, extracellular space.

Disease Associations

Biotinidase deficiency (BTD deficiency) [MIM:253260]: A juvenile form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. Biotinidase deficiency is characterized by seizures, hypotonia, skin rash, alopecia, ataxia, hearing loss, and optic atrophy. If untreated, symptoms usually become progressively worse, and coma and death may occur. {ECO:0000269PubMed:10206677, ECO:0000269PubMed:9099842, ECO:0000269PubMed:9654207}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	1 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004075	biotin carboxylase activity
GO:0016810	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides
GO:0047708	biotinidase activity

Biological Process

GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0006768	biotin metabolic process
GO:0006807	nitrogen compound metabolic process
GO:0007417	central nervous system development
GO:0008544	epidermis development
GO:0044281	small molecule metabolic process