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
biotinidase
biotinidase
biotinidase
biotinidase
biotinidase
biotinidase
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
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
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.517830
RefSeq NM_000060 NM_001281723 NM_001281724 NM_001281725 XM_005265417 XM_006713314 XM_006713315
HUGO
OMIM
CCDS CCDS2628 CCDS63563 CCDS63564 CCDS63565
HPRD 08359
IMGT
EMBL
GenPept
RNA Seq Atlas