InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: BTD

Summary

InnateDB Gene

IDBG-21076.6

Last Modified

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

Gene Symbol

BTD

Gene Name

biotinidase

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000169814

Encoded Proteins

IDBP-21078

biotinidase

IDBP-21080

biotinidase

IDBP-366431

biotinidase

IDBP-366445

biotinidase

IDBP-366450

biotinidase

IDBP-366460

biotinidase

IDBP-366467

biotinidase

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

Biotinidase functions to recycle biotin in the body by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. Biotinidase has also been shown to have biotinyl-transferase activity. Defects in the biotinidase gene cause multiple carboxylase deficiency. [provided by RefSeq, Jul 2008]
The protein encoded by this gene functions to recycle protein-bound biotin by cleaving biocytin (biotin-epsilon-lysine), a normal product of carboxylase degradation, resulting in regeneration of free biotin. The encoded protein has also been shown to have biotinyl transferase activity. Mutations in this gene are associated with biotinidase deficiency. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 3:15601341-15645822

Strand

Forward strand

Band

p25.1

Transcripts

ENST00000303498	ENSP00000306477
ENST00000383778	ENSP00000373288
ENST00000427382	ENSP00000397113
ENST00000449107	ENSP00000388212
ENST00000437172	ENSP00000400995
ENST00000436193	ENSP00000394277
ENST00000417015	ENSP00000403775
ENST00000494021
ENST00000480711
ENST00000471964
ENST00000467027
ENST00000482824

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

Cellular Component

GO:0005576	extracellular region
GO:0005615	extracellular space
GO:0005730	nucleolus
GO:0005759	mitochondrial matrix
GO:0043204	perikaryon
GO:0045177	apical part of cell
GO:0070062	extracellular vesicular exosome