PIP5K1A phosphatidylinositol-4-phosphate 5-kinase type 1 alpha
Gene ID: 8394, updated on 14-Nov-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for PIP5K1A
- Go to Variation Viewer for PIP5K1A variants
Summary
Enables 1-phosphatidylinositol-4-phosphate 5-kinase activity and kinase binding activity. Involved in several processes, including activation of GTPase activity; focal adhesion assembly; and ruffle assembly. Located in several cellular components, including lamellipodium; nucleus; and ruffle membrane. [provided by Alliance of Genome Resources, Nov 2024]
Genomic context
- Location:
- 1q21.3
- Sequence:
- Chromosome: 1; NC_000001.11 (151195419..151249531)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PIP5K1A 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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