SAV1 salvador family WW domain containing protein 1
Gene ID: 60485, updated on 3-Apr-2024Gene type: protein coding
Also known as: SAV; WW45; WWP4
- See all available tests in GTR for this gene
- Go to complete Gene record for SAV1
- Go to Variation Viewer for SAV1 variants
Summary
WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein with two WW domains, a SARAH domain, and a coiled-coil region and is ubiquitously expressed in adult tissues. This protein binds to MST1 (mammalian sterile 20-like kinase 1) and promotes MST1-induced apoptosis. It has also been shown to bind to HAX1 (hematopoietic cell-specific protein 1 (HS1)-associated protein X-1) and to attenuate the anti-apoptotic effects of HAX1. Studies in human and mouse suggest this gene acts as a tumor suppressor. [provided by RefSeq, Aug 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association meta-analysis of plasma Aβ peptides concentrations in the elderly. GeneReviews: Not available | |
| Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years. GeneReviews: Not available | |
| Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus. GeneReviews: Not available |
Genomic context
- Location:
- 14q22.1
- Sequence:
- Chromosome: 14; NC_000014.9 (50633580..50668306, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SAV1 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
- Variation ViewerRelated Variants
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