Protein Summary
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]
- ENST00000303498
- ENSP00000306477
- ENSG00000169814
- ENST00000383778
- ENSP00000373288
- ENST00000427382
- ENSP00000397113
- ENST00000437172
- ENSP00000400995
- ENST00000449107
- ENSP00000388212
- ENST00000643237
- ENSP00000495254
- ENST00000646371
- ENSP00000495866
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 | ||
Protein Classes
IDG Development Level Summary
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: 59.79 (req: < 5)
Gene RIFs: 25 (req: <= 3)
Antibodies: 202 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 59.79 (req: >= 5)
Gene RIFs: 25 (req: > 3)
Antibodies: 202 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 3
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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 is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (44)
SERPINC1
Novelty: 0.00008721
p_int: 0.965190884
p_ni: 0.034808677
p_wrong: 4.4e-7
Score: 0.37
Data Source: BioPlex,STRINGDB
MYO1D
Novelty: 0.03263543
p_int: 0.945770079
p_ni: 0.054229921
Score: 0.239
Data Source: BioPlex,STRINGDB
ERP44
Novelty: 0.02352693
p_int: 0.877741427
p_ni: 0.122258573
Score: 0.223
Data Source: BioPlex,STRINGDB
CST5
Novelty: 0.04273227
p_int: 0.769175725
p_ni: 0.230822977
p_wrong: 0.000001298
Data Source: BioPlex
UCN3
Novelty: 0.00996251
p_int: 0.769175725
p_ni: 0.230822977
p_wrong: 0.000001298
Data Source: BioPlex
Nearest Tclin Targets
Pathways (12)
Reactome (9)
KEGG (3)
Click on a row in the table to change the structure displayed.
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 | ||||
Viral Interactions (0)
Gene Ontology Terms (7)
Functions (1)
Components (4)
Processes (2)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Traceable Author Statement (TAS) | Reactome | |||
Disease Associations ()
GWAS Traits (11)
Items per page:
1 – 5 of 11
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
mean platelet volume | 2 | 3 | 3 | 93.6 | |||||
waist-hip ratio | 2 | 2 | 2 | 66.6 | |||||
high density lipoprotein cholesterol measurement | 1 | 1 | 1 | 63.7 | |||||
2 | 2 | 2 | 63 | ||||||
apolipoprotein A 1 measurement | 1 | 1 | 1 | 48.5 | |||||
Items per page:
1 – 5 of 11
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
mean platelet volume | 3 | 93.6 | |||||
waist-hip ratio | 2 | 66.6 | |||||
high density lipoprotein cholesterol measurement | 1 | 63.7 | |||||
2 | 63 | ||||||
apolipoprotein A 1 measurement | 1 | 48.5 | |||||
Find similar targets by:
IDG Resources
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 | |||||
Publication Statistics
PubMed Score 59.79
PubMed score by year
PubTator Score 460.40
PubTator score by year
Related Publications
Text Mined References (48)
GeneRif Annotations (25)
Items per page:
0 of 0
PMID | Year | Title |
|---|