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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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
Inositol phosphate metabolism Synthesis of PIPs at the plasma membrane
Metabolic pathways PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
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  
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 Reference Evidence Score
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LYMPHATIC METASTASIS — CTD 34755307
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS — CTD 34755307
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (16)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 30104711
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 39408874 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 31558874
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31558874 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis Pubtator 34546850 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1 Episodic Kinesigenic Dyskinesia BEFREE 30321068
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 30104711
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of pancreas Pancreatic cancer BEFREE 30194290
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer BEFREE 27588408, 31381135
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant tumor of colon Colonic Neoplasms BEFREE 31558874
★★★★★
★☆☆☆☆
Found in Text Mining only