ITPKA (inositol-trisphosphate 3-kinase A)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3706
Gene name Gene Name - the full gene name approved by the HGNC.
Inositol-trisphosphate 3-kinase A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ITPKA
Synonyms (NCBI Gene) Gene synonyms aliases
IP3-3KA, IP3KA
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q15.1
Summary Summary of gene provided in NCBI Entrez Gene.
Regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of the inositol 1,4,5-trisphosphate 3-kinase is responsible for regulating the levels of a large number of inositol
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
miRTarBase ID miRNA Experiments Reference
MIRT016467 hsa-miR-193b-3p Microarray 20304954
MIRT1074802 hsa-miR-1289 CLIP-seq
MIRT1074803 hsa-miR-129-3p CLIP-seq
MIRT1074804 hsa-miR-3121-5p CLIP-seq
MIRT1074805 hsa-miR-3127-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(35)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000828 Function Inositol hexakisphosphate kinase activity IBA
GO:0004683 Function Calcium/calmodulin-dependent protein kinase activity IEA
GO:0005516 Function Calmodulin binding IEA
GO:0005524 Function ATP binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
147521 6178 ENSG00000137825
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P23677
Protein name Inositol-trisphosphate 3-kinase A (EC 2.7.1.127) (Inositol 1,4,5-trisphosphate 3-kinase A) (IP3 3-kinase A) (IP3K A) (InsP 3-kinase A)
Protein function Catalyzes the phosphorylation of 1D-myo-inositol 1,4,5-trisphosphate (InsP3) into 1D-myo-inositol 1,3,4,5-tetrakisphosphate and participates to the regulation of calcium homeostasis. {ECO:0000269|PubMed:12747803, ECO:0000269|PubMed:15350214, ECO
PDB 1W2C , 1W2D , 1W2F , 4UPU , 8PP8 , 8PP9 , 8PPA , 8PPB , 8PPC , 8PPD , 8PPE , 8PPF , 8PPG , 8PPH , 8PPI , 8PPJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03770 IPK 245 → 456 Inositol polyphosphate kinase Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain. {ECO:0000269|PubMed:1847047}.
Sequence 
MTLPGGPTGMARPGGARPCSPGLERAPRRSVGELRLLFEARCAAVAAAAAAGEPRARGAK
RRGGQVPNGLPRAPPAPVIPQLTVTAEEPDVPPTSPGPPERERDCLPAAGSSHLQQPRRL
STSSVSSTGSSSLLEDSEDDLLSDSESRSRGNVQLEAGEDVGQKNHWQKIRTMVNLPVIS
PFKKRYAWVQLAGHTGSFKAAGTSGLILKRCSEPERYCLARLMADALRGCVPAFHGVVER
DGESYLQLQDLLDGFDGPCVLDCKMGVRTYLEEELTKARERPKLRKDMYKKMLAVDPEAP
TEEEHAQRAVTKPRYMQWREGISSSTTLGFRIEGIKKADGSCSTDFKTTRSREQVLRVFE
EFVQGDEEVLRRYLNRLQQIRDTLEVSEFFRRHEVIGSSLLFVHDHCHRAGVWLIDFGKT
TPLPDGQILDHRRPWEEGNREDGYLLGLDNLIGILASLAER
Sequence length 461
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Inositol phosphate metabolism
Metabolic pathways
Calcium signaling pathway
Phosphatidylinositol signaling system 		  Synthesis of IP3 and IP4 in the cytosol
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma, Asthma (childhood onset), Asthma onset (childhood vs adult), Age of onset of childhood onset asthma, Atopic asthma N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 30352093
Adenocarcinoma of Lung Associate 30352093, 32015686
Breast Neoplasms Stimulate 33624455
Carcinoma Hepatocellular Associate 26249031
Carcinoma Renal Cell Associate 33221754, 37460577
Colitis Ulcerative Stimulate 36857861
Endometrial Neoplasms Associate 36805217
Heart Diseases Associate 38003044
Lung Neoplasms Associate 36688944, 37664985
Lymphatic Metastasis Stimulate 33624455