RB1CC1 RB1 inducible coiled-coil 1
Gene ID: 9821, updated on 10-Dec-2024Gene type: protein coding
Also known as: CC1; ATG17; FIP200; PPP1R131
- See all available tests in GTR for this gene
- Go to complete Gene record for RB1CC1
- Go to Variation Viewer for RB1CC1 variants
Summary
The protein encoded by this gene interacts with signaling pathways to coordinately regulate cell growth, cell proliferation, apoptosis, autophagy, and cell migration. This tumor suppressor also enhances retinoblastoma 1 gene expression in cancer cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Familial cancer of breast MedGen: C0346153OMIM: 114480GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity Haploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2018-07-25) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 8q11.23
- Sequence:
- Chromosome: 8; NC_000008.11 (52622458..52714435, complement)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RB1CC1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RB1CC1 database
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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