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Tbio
BTD
Biotinidase

Protein Classes
Protein Summary
Description
Catalytic release of biotin from biocytin, the product of biotin-dependent carboxylases degradation. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000303498
  • ENSP00000306477
  • ENSG00000169814
  • ENST00000383778
  • ENSP00000373288
  • ENST00000427382
  • ENSP00000397113
  • ENST00000437172
  • ENSP00000400995
  • ENST00000449107
  • ENSP00000388212
  • ENST00000643237
  • ENSP00000495254
  • ENST00000646371
  • ENSP00000495866
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
disease perturbation
0.9
histone modification site profile
0.9
co-expressed gene
0.79
transcription factor binding site profile
0.77
virus perturbation
0.72


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 57.32   (req: < 5)
Gene RIFs: 25   (req: <= 3)
Antibodies: 202   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 57.32   (req: >= 5)
Gene RIFs: 25   (req: > 3)
Antibodies: 202   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 3
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (10)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
2
2
2
82
waist-hip ratio
1
1
1
69.6
body mass index
1
1
1
59.1
mean platelet volume
2
2
2
43.1
triglyceride measurement
1
1
1
18.4
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
2
82
waist-hip ratio
1
69.6
body mass index
1
59.1
mean platelet volume
2
43.1
triglyceride measurement
1
18.4
Orthologs (11)
1 – 5 of 11
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
biotinidase
VGNC:1748
470760
Macaque
biotinidase
677722
Mouse
MGI:1347001
26363
Rat
RGD:1305316
306262
Dog
biotinidase
VGNC:38556
477059
Species
Name
OMA
EggNOG
Inparanoid
Chimp
biotinidase
Macaque
biotinidase
Mouse
Rat
Dog
biotinidase
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-P43251-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (12)
Biotin transport and metabolism (R-HSA-196780)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 9
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Biotin transport and metabolism
Reactome
Defective BTD causes biotidinase deficiency
Reactome
Defects in biotin (Btn) metabolism
Reactome
Defects in vitamin and cofactor metabolism
Reactome
Disease
Name
Explore in Pharos
Explore in Source
Biotin transport and metabolism
Defective BTD causes biotidinase deficiency
Defects in biotin (Btn) metabolism
Defects in vitamin and cofactor metabolism
Disease
Gene Ontology Terms (7)
Items per page:
10
1 – 1 of 1
GO Term
Evidence
Assigned by
Traceable Author Statement (TAS)
Reactome
Protein-Protein Interactions (44)
1 – 10 of 44
SERPINC1
Tclin
Novelty: 0.00008721
p_int: 0.965190884
p_ni: 0.034808677
p_wrong: 4.4e-7
Score: 0.37
Data Source: BioPlex,STRINGDB
DHFR2
Tbio
Family: Enzyme
Novelty: 0.02374466
p_int: 0.94661893
p_ni: 0.05338107
Data Source: BioPlex
MYO1D
Tbio
Novelty: 0.03263543
p_int: 0.945770079
p_ni: 0.054229921
Score: 0.239
Data Source: BioPlex,STRINGDB
FAM19A2
Tbio
Novelty: 0.28999346
p_int: 0.887007571
p_ni: 0.112992429
Data Source: BioPlex
ERP44
Tbio
Novelty: 0.02352693
p_int: 0.877741427
p_ni: 0.122258573
Score: 0.223
Data Source: BioPlex,STRINGDB
CST5
Tbio
Novelty: 0.04273227
p_int: 0.769175725
p_ni: 0.230822977
p_wrong: 0.000001298
Data Source: BioPlex
UCN3
Tbio
Novelty: 0.00996251
p_int: 0.769175725
p_ni: 0.230822977
p_wrong: 0.000001298
Data Source: BioPlex
HLCS
Tchem
Family: Enzyme
Novelty: 0.01597449
Score: 0.988
Data Source: STRINGDB
AASS
Tbio
Family: Enzyme
Novelty: 0.03213727
Score: 0.82
Data Source: STRINGDB
MCCC1
Tbio
Family: Enzyme
Novelty: 0.01234441
Score: 0.82
Data Source: STRINGDB
Publication Statistics
PubMed Score  57.32

PubMed score by year
PubTator Score  460.4

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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