BTD

Protein identityUniProt · HPA

UniProt accession

P43251

Gene

BTD

Ensembl

ENSG00000169814

Chromosome

3

Canonical length

543 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to blood

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

543 residues, UniProt reviewed canonical sequence.

>P43251|BTD
     1  MAHAHIQGGR RAKSRFVVCI MSGARSKLAL FLCGCYVVAL GAHTGEESVA DHHEAEYYVA
    61  AVYEHPSILS LNPLALISRQ EALELMNQNL DIYEQQVMTA AQKDVQIIVF PEDGIHGFNF
   121  TRTSIYPFLD FMPSPQVVRW NPCLEPHRFN DTEVLQRLSC MAIRGDMFLV ANLGTKEPCH
   181  SSDPRCPKDG RYQFNTNVVF SNNGTLVDRY RKHNLYFEAA FDVPLKVDLI TFDTPFAGRF
   241  GIFTCFDILF FDPAIRVLRD YKVKHVVYPT AWMNQLPLLA AIEIQKAFAV AFGINVLAAN
   301  VHHPVLGMTG SGIHTPLESF WYHDMENPKS HLIIAQVAKN PVGLIGAENA TGETDPSHSK
   361  FLKILSGDPY CEKDAQEVHC DEATKWNVNA PPTFHSEMMY DNFTLVPVWG KEGYLHVCSN
   421  GLCCYLLYER PTLSKELYAL GVFDGLHTVH GTYYIQVCAL VRCGGLGFDT CGQEITEATG
   481  IFEFHLWGNF STSYIFPLFL TSGMTLEVPD QLGWENDHYF LRKSRLSSGL VTAALYGRLY
   541  ERD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BTD can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.28

Highest tissue expression

94 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BTD.

Disease | AllUniProt

Conditions BTD is implicated in, by any mechanism.

• Biotinidase deficiency (BTD deficiency) MIM:253260

Disease | GeneticClinVar

253 pathogenic / likely-pathogenic of 773 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Biotinidase deficiency
• Inborn genetic diseases
• BTD-related disorder
• Intellectual disability
• Colon adenocarcinoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.3

gnomAD pLI

0

gnomAD missense Z

-0.53

DepMap mean gene effect

0.23

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• biotin metabolic process
• central nervous system development

Molecular functions

• biotinidase activity

Cellular components

• extracellular exosome
• extracellular region
• extracellular space
• mitochondrial matrix

Protein domainsUniProt · Pfam · InterPro

• Carbon-nitrogen hydrolase
• Biotinidase-like, eukaryotic
• Carbon-nitrogen hydrolase superfamily
• Biotinidase/VNN family
• Vanin, C-terminal
• Carbon-nitrogen hydrolase
• Vanin C-terminal domain

KeywordsUniProt

• Glycoprotein
• Hydrolase
• Secreted
• Signal