• Gene id: 686

Gene Summary

• Gene Symbol: BTD   Gene   UCSC   Ensembl
• Gene name: biotinidase
• Alternate names: biotinidase, biotinase,
• Gene location: 3p25.1 (15601351: 15722515)     Exons: 11     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 609019

Protein Summary

• Protein general information: P43251  
  • Name: Biotinidase (Biotinase) (EC 3.5.1.12)
  • Length: 543  
  • Mass: 61133
• Sequence:

  MAHAHIQGGRRAKSRFVVCIMSGARSKLALFLCGCYVVALGAHTGEESVADHHEAEYYVAAVYEHPSILSLNPLA
  LISRQEALELMNQNLDIYEQQVMTAAQKDVQIIVFPEDGIHGFNFTRTSIYPFLDFMPSPQVVRWNPCLEPHRFN
  DTEVLQRLSCMAIRGDMFLVANLGTKEPCHSSDPRCPKDGRYQFNTNVVFSNNGTLVDRYRKHNLYFEAAFDVPL
  KVDLITFDTPFAGRFGIFTCFDILFFDPAIRVLRDYKVKHVVYPTAWMNQLPLLAAIEIQKAFAVAFGINVLAAN
  VHHPVLGMTGSGIHTPLESFWYHDMENPKSHLIIAQVAKNPVGLIGAENATGETDPSHSKFLKILSGDPYCEKDA
  QEVHCDEATKWNVNAPPTFHSEMMYDNFTLVPVWGKEGYLHVCSNGLCCYLLYERPTLSKELYALGVFDGLHTVH
  GTYYIQVCALVRCGGLGFDTCGQEITEATGIFEFHLWGNFSTSYIFPLFLTSGMTLEVPDQLGWENDHYFLRKSR
  LSSGLVTAALYGRLYERD

• Structural information:
  • Protein Domains: (72..35-)
    (/note="CN-hydrolase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00054"-)
  • Interpro: IPR012101  IPR040154  IPR003010  IPR036526  
  • Prosite: PS50263
  • CDD: cd07567
  • STRING: ENSP00000400995
• Other Databases: GeneCards:  BTD  Malacards:  BTD

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006768	biotin metabolic process	IBA	biological process
GO:0006807	nitrogen compound metabolic process	IEA	biological process
GO:0016811	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0007417	central nervous system development	TAS	biological process
GO:0047708	biotinidase activity	IEA	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0047708	biotinidase activity	TAS	molecular function
GO:0047708	biotinidase activity	TAS	molecular function
GO:0005576	extracellular region	TAS	cellular component
GO:0006768	biotin metabolic process	TAS	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005615	extracellular space	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04977	Vitamin digestion and absorption
hsa00780	Biotin metabolism

Diseases

Associated diseases	References
Biotinidase deficiency	KEGG:H01182
Biotinidase deficiency	KEGG:H01182
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)