RIC1 RIC1 homolog, RAB6A GEF complex partner 1
Gene ID: 57589, updated on 2-Nov-2024Gene type: protein coding
Also known as: CATIFA; CIP150; KIAA1432; bA207C16.1
- See all available tests in GTR for this gene
- Go to complete Gene record for RIC1
- Go to Variation Viewer for RIC1 variants
Summary
Enables guanyl-nucleotide exchange factor activity and small GTPase binding activity. Involved in several processes, including positive regulation of GTPase activity; regulation of extracellular matrix constituent secretion; and retrograde transport, endosome to Golgi. Located in cytosol and membrane. Part of Ric1-Rgp1 guanyl-nucleotide exchange factor complex. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Catifa syndrome | See labs |
Genomic context
- Location:
- 9p24.1
- Sequence:
- Chromosome: 9; NC_000009.12 (5629107..5778633)
- Total number of exons:
- 29
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for RIC1 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
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.