NCOA1 nuclear receptor coactivator 1
Gene ID: 8648, updated on 17-Jun-2024Gene type: protein coding
Also known as: SRC1; KAT13A; RIP160; F-SRC-1; bHLHe42; bHLHe74
- See all available tests in GTR for this gene
- Go to complete Gene record for NCOA1
- Go to Variation Viewer for NCOA1 variants
Summary
The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma. GeneReviews: Not available |
Genomic context
- Location:
- 2p23.3
- Sequence:
- Chromosome: 2; NC_000002.12 (24491254..24770702)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NCOA1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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