HIP1R huntingtin interacting protein 1 related
Gene ID: 9026, updated on 5-Mar-2024Gene type: protein coding
Also known as: HIP3; HIP12; ILWEQ
- See all available tests in GTR for this gene
- Go to complete Gene record for HIP1R
- Go to Variation Viewer for HIP1R variants
Summary
Enables several functions, including phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and protein homodimerization activity. Involved in several processes, including positive regulation of signal transduction; protein stabilization; and regulation of organelle organization. Located in clathrin-coated vesicle; cytosol; and ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. GeneReviews: Not available |
Genomic context
- Location:
- 12q24.31
- Sequence:
- Chromosome: 12; NC_000012.12 (122834748..122862961)
- Total number of exons:
- 33
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for HIP1R variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
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