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
miRTarBase ID miRNA Experiments Reference
MIRT021718 hsa-miR-132-3p Microarray 17612493
MIRT046769 hsa-miR-222-3p CLASH 23622248
MIRT039898 hsa-miR-615-3p CLASH 23622248
MIRT039096 hsa-miR-769-3p CLASH 23622248
MIRT037733 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
57
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000285 Function 1-phosphatidylinositol-3-phosphate 5-kinase activity TAS
GO:0001726 Component Ruffle IEA
GO:0005515 Function Protein binding IPI 15157668, 18288197, 20660631, 30194290, 31091439
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603275 8994 ENSG00000143398
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

Accession ID Position in sequence Description Type
PF01504 PIP5K 166 448 Phosphatidylinositol-4-phosphate 5-Kinase Family
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
MASASSGPSSSVGFSSFDPAVPSCTLSSAASGIKRPMASEVLEARQDSYISLVPYASGMP
IKKIGHRSVDSSGETTYKKTTSSALKGAIQLGITHTVGSLSTKPERDVLMQDFYVVESIF
FPSEGSNLTPAHHYNDFRFKTYAPVAFRYFRELFGIRPDDYLYSLCSEPLIELCSSGASG
SLFYVSSDDEFIIKTVQHKEAEFLQKLLPGYYMNLNQNPRTLLPKFYGLYCVQAGGKNIR
IVVMNNLLPRSVKMHIKYDLKGSTYKRRASQKEREKPLPTFKDLDFLQDIPDGLFLDADM
YNALCKTLQRDCLVLQSFKIMDYSLLMSIHNIDHAQREPLSSETQYSVDTRRPAPQKALY
STAMESIQGEARRGGTMETDDHMGGIPARNSKGERLLLYIGIIDILQSYRFVKKLEHSWK
ALVHDGDTVSVHRPGFYAERFQRFMCNT
VFKKIPLKPSPSKKFRSGSSFSRRAGSSGNSC
ITYQPSVSGEHKAQVTTKAEVEPGVHLGRPDVLPQTPPLEEISEGSPIPDPSFSPLVGET
LQMLTTSTTLEKLEVAESEFTH
Sequence length 562
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
Phospholipase D signaling pathway
Endocytosis
Focal adhesion
Fc gamma R-mediated phagocytosis
Regulation of actin cytoskeleton
Yersinia infection
Choline metabolism in cancer
  Synthesis of PIPs at the plasma membrane
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual developmental disorder 60 with seizures Likely pathogenic rs933715329 RCV003988763
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LYMPHATIC METASTASIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 39408874
★☆☆☆☆
Found in Text Mining only
Carcinoma Non Small Cell Lung Stimulate 31558874
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 31558874
★☆☆☆☆
Found in Text Mining only
Endometriosis Associate 34546850
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stimulate 32169757
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Neoplasms Associate 34323415
★☆☆☆☆
Found in Text Mining only