Protein Summary
Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase. This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]
- ENST00000336648
- ENSP00000338387
- ENSG00000159267
- ENST00000399120
- ENSP00000382071
- ENST00000612277
- ENSP00000479939
- HCS
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
molecular function | 0.99 | ||
kinase perturbation | 0.81 | ||
histone modification site profile | 0.8 | ||
cell type or tissue | 0.73 | ||
transcription factor binding site profile | 0.73 | ||
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: 70.07 (req: < 5)
Gene RIFs: 25 (req: <= 3)
Antibodies: 141 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 70.07 (req: >= 5)
Gene RIFs: 25 (req: > 3)
Antibodies: 141 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 15
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligands: 3
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 (3)
Protein-Protein Interactions (105)
TMC7
Family: IC
Novelty: 0.36769179
p_int: 0.999995676
p_ni: 0.000004324
Score: 0.252
Data Source: BioPlex,STRINGDB
CATSPERD
Novelty: 0.85066163
p_int: 0.999990427
p_ni: 0.000009573
Score: 0.685
Data Source: BioPlex,STRINGDB
TBC1D20
Novelty: 0.08651866
p_int: 0.999932265
p_ni: 2.91e-7
p_wrong: 0.000067444
Score: 0.54
Data Source: BioPlex,STRINGDB
SPATA46
Novelty: 0.327066
p_int: 0.985988398
p_ni: 0.014002949
p_wrong: 0.000008653
Score: 0.513
Data Source: BioPlex,STRINGDB
Nearest Tclin Targets
Pathways (11)
Reactome (9)
KEGG (2)
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 HLCS causes multiple carboxylase 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 HLCS causes multiple carboxylase deficiency | ||||
Defects in biotin (Btn) metabolism | ||||
Defects in vitamin and cofactor metabolism | ||||
Disease | ||||
Viral Interactions (0)
Gene Ontology Terms (20)
Functions (9)
Components (5)
Processes (6)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Physical Interaction (IPI) | UniProtKB | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-KW | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-EC | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-EC | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-EC | |||
Inferred from Electronic Annotation (IEA) | Ensembl | |||
Disease Associations ()
GWAS Traits (5)
Items per page:
1 – 5 of 5
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
hematocrit | 2 | 5 | 5 | 92 | |||||
hemoglobin measurement | 2 | 4 | 4 | 89.8 | |||||
erythrocyte count | 1 | 1 | 1 | 49.5 | |||||
hip circumference | 1 | 2 | 2 | 38.8 | |||||
birth weight | 1 | 1 | 1 | 4.1 | |||||
Items per page:
1 – 5 of 5
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
hematocrit | 5 | 92 | |||||
hemoglobin measurement | 4 | 89.8 | |||||
erythrocyte count | 1 | 49.5 | |||||
hip circumference | 2 | 38.8 | |||||
birth weight | 1 | 4.1 | |||||
Find similar targets by:
IDG Resources
Orthologs (13)
1 – 5 of 13
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | holocarboxylase synthetase | VGNC:6592 | 473989 | |||||
Macaque | holocarboxylase synthetase | 694733 | ||||||
Mouse | MGI:894646 | 110948 | ||||||
Rat | RGD:1565360 | 288240 | ||||||
Dog | holocarboxylase synthetase | VGNC:50300 | 478412 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | holocarboxylase synthetase | |||||
Macaque | holocarboxylase synthetase | |||||
Mouse | ||||||
Rat | ||||||
Dog | holocarboxylase synthetase | |||||
Publication Statistics
PubMed Score 70.07
PubMed score by year
PubTator Score 325.13
PubTator score by year
Related Publications
Text Mined References (45)
GeneRif Annotations (25)
Items per page:
0 of 0
PMID | Year | Title |
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