RINT1 RAD50 interactor 1
Gene ID: 60561, updated on 4-Jan-2025Gene type: protein coding
Also known as: ILFS3; RINT-1
- See all available tests in GTR for this gene
- Go to complete Gene record for RINT1
- Go to Variation Viewer for RINT1 variants
Summary
This gene encodes a protein first identified for its ability to interact with the RAD50 double strand break repair protein, with the resulting interaction implicated in the regulation of cell cycle progression and telomere length. The encoded protein may also play a role in trafficking of cellular cargo from the endosome to the trans-Golgi network. Mutations in this gene may be associated with breast cancer in human patients. [provided by RefSeq, Oct 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Infantile liver failure syndrome 3 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2024-07-10) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 7q22.3
- Sequence:
- Chromosome: 7; NC_000007.14 (105532201..105567677)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RINT1 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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