PIP5K1A (phosphatidylinositol-4-phosphate 5-kinase type 1 alpha)
|
Gene
Gene information from NCBI Gene database.
|
|
| Entrez ID | 8394 |
| Gene name | Phosphatidylinositol-4-phosphate 5-kinase type 1 alpha |
| Gene symbol | PIP5K1A |
| Synonyms (NCBI Gene) |
-
|
| Chromosome | 1 |
| Chromosome location | 1q21.3 |
|
miRNA
miRNA information provided by mirtarbase database.
317
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
Protein
Protein information from UniProt database.
|
|||||||||||
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
Q99755 | ||||||||||
| Protein name | Phosphatidylinositol 4-phosphate 5-kinase type-1 alpha (PIP5K1-alpha) (PtdIns(4)P-5-kinase 1 alpha) (EC 2.7.1.68) (68 kDa type I phosphatidylinositol 4-phosphate 5-kinase alpha) (Phosphatidylinositol 4-phosphate 5-kinase type I alpha) (PIP5KIalpha) | ||||||||||
| Protein function | Catalyzes the phosphorylation of phosphatidylinositol 4-phosphate (PtdIns(4)P/PI4P) to form phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2/PIP2), a lipid second messenger that regulates several cellular processes such as signal transductio | ||||||||||
| Family and domains |
Pfam
|
||||||||||
| Tissue specificity | TISSUE SPECIFICITY: Highly expressed in heart, placenta, skeletal muscle, kidney and pancreas. Detected at lower levels in brain, lung and liver. {ECO:0000269|PubMed:8955136}. | ||||||||||
| Sequence |
|
||||||||||
| Sequence length | 562 | ||||||||||
| Interactions | View interactions | ||||||||||
|
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
|
|
|
Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
|
|||||||||||||||||||||||||||||||||
|
Evidence Score:
★☆☆☆☆ Gene-disease association found in Text Mining only
★★☆☆☆ Found in Text Mining and Unknown/Other Associations
★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources
★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
|
|||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||