Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3706
Gene name	Inositol-trisphosphate 3-kinase A
Gene symbol	ITPKA
Synonyms (NCBI Gene)	IP3-3KAIP3KA
Chromosome	15
Chromosome location	15q15.1
Summary	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

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
MIRT1074806	hsa-miR-3185	CLIP-seq
MIRT1074807	hsa-miR-4313	CLIP-seq
MIRT1074808	hsa-miR-4433	CLIP-seq
MIRT1074809	hsa-miR-4706	CLIP-seq
MIRT1074810	hsa-miR-4749-5p	CLIP-seq
MIRT1074802	hsa-miR-1289	CLIP-seq
MIRT1074808	hsa-miR-4433	CLIP-seq
MIRT1074809	hsa-miR-4706	CLIP-seq
MIRT1074810	hsa-miR-4749-5p	CLIP-seq
MIRT2389518	hsa-miR-146b-3p	CLIP-seq
MIRT2389519	hsa-miR-3130-3p	CLIP-seq
MIRT2389520	hsa-miR-3173-5p	CLIP-seq
MIRT2389521	hsa-miR-874	CLIP-seq

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
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IDA	1847047
GO:0005856	Component	Cytoskeleton	IEA
GO:0006020	Process	Inositol metabolic process	IEA
GO:0007165	Process	Signal transduction	TAS	1847047, 2176078
GO:0008440	Function	Inositol-1,4,5-trisphosphate 3-kinase activity	IDA	1847047, 12747803
GO:0008440	Function	Inositol-1,4,5-trisphosphate 3-kinase activity	IEA
GO:0008440	Function	Inositol-1,4,5-trisphosphate 3-kinase activity	TAS	1654894
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0032958	Process	Inositol phosphate biosynthetic process	IBA
GO:0032958	Process	Inositol phosphate biosynthetic process	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IBA
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IDA	1847047, 12747803
GO:0046854	Process	Phosphatidylinositol phosphate biosynthetic process	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0051592	Process	Response to calcium ion	IDA	1847047
GO:0061003	Process	Positive regulation of dendritic spine morphogenesis	IEA
GO:0071277	Process	Cellular response to calcium ion	IDA	12747803
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0097062	Process	Dendritic spine maintenance	IEA
GO:0098871	Component	Postsynaptic actin cytoskeleton	IEA
GO:0098885	Process	Modification of postsynaptic actin cytoskeleton	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
147521	6178	ENSG00000137825

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

	KEGG		Reactome
	Inositol phosphate metabolism Metabolic pathways Calcium signaling pathway Phosphatidylinositol signaling system		Synthesis of IP3 and IP4 in the cytosol

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)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (20)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28377279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	30929738		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	28377279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33624455	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26249031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28377279, 29871874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33221754, 37460577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	36857861	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36805217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28927102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	38003044	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36688944, 37664985	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33624455	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28377279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28377279, 29871874		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24564989, 28377279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28377279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16525636		★★★★★ ★☆☆☆☆ Found in Text Mining only

ITPKA (inositol-trisphosphate 3-kinase A)