ITPKA inositol-trisphosphate 3-kinase A [Homo sapiens (human)] - Gene

Summary

Official Symbol: ITPKAprovided by HGNC
Official Full Name: inositol-trisphosphate 3-kinase Aprovided by HGNC
Primary source: HGNC:HGNC:6178
See related: Ensembl:ENSG00000137825 MIM:147521; AllianceGenome:HGNC:6178
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IP3KA; IP3-3KA
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 polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. It is also a substrate for the cyclic AMP-dependent protein kinase, calcium/calmodulin- dependent protein kinase II, and protein kinase C in vitro.[provided by RefSeq, Apr 2011]
Expression: Biased expression in brain (RPKM 9.4), duodenum (RPKM 6.8) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 15q15.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (41493874..41503551)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (39300037..39309713)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (41786072..41795749)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Commentary on: The actin bundling activity of ITPKA mainly accounts for its migration-promoting effect in lung cancer cells.
Title: Commentary on: The actin bundling activity of ITPKA mainly accounts for its migration-promoting effect in lung cancer cells.
The actin bundling activity of ITPKA mainly accounts for its migration-promoting effect in lung cancer cells.
Title: The actin bundling activity of ITPKA mainly accounts for its migration-promoting effect in lung cancer cells.
Relationship of ITPKA expression with the prognosis of breast cancer.
Title: Relationship of ITPKA expression with the prognosis of breast cancer.
ITPKA induces cell senescence, inhibits ovarian cancer tumorigenesis and can be downregulated by miR-203.
Title: ITPKA induces cell senescence, inhibits ovarian cancer tumorigenesis and can be downregulated by miR-203.
TFAP2A Induced ITPKA Serves as an Oncogene and Interacts with DBN1 in Lung Adenocarcinoma.
Title: TFAP2A Induced ITPKA Serves as an Oncogene and Interacts with DBN1 in Lung Adenocarcinoma.
IP3K-A binds to EB3 and their binding affinity is precisely regulated by protein kinase A (PKA)-dependent phosphorylation of IP3K-A at Ser119 (pSer119). The complex of IP3K-A and EB3 dissociates and reassociates rapidly during chemically induced LTP.
Title: PKA-dependent phosphorylation of IP3K-A at Ser119 regulates a binding affinity with EB3.
ITPKA is a potential oncogene that it is overexpressed in most tumors, and its overexpression promotes tumorigenesis; ITPKA gene body methylation regulates its expression and serves as a novel and potential biomarker for early cancer detection
Title: ITPKA Gene Body Methylation Regulates Gene Expression and Serves as an Early Diagnostic Marker in Lung and Other Cancers.
Our data indicated that ITPKA expression was significantly up-regulated in hepatocellular carcinoma and could serve as a potential novel prognostic biomarker
Title: ITPKA expression is a novel prognostic factor in hepatocellular carcinoma.
describe the crystal structure of the complex between human Ca2+/CaM and the CaM-binding region of human IP3-3K isoform A (residues 158-183)
Title: A new calmodulin-binding motif for inositol 1,4,5-trisphosphate 3-kinase regulation.
we conclude that the observed expression of ITPKA early in tumor development increases the metastatic potential of lung adenocarcinoma cells.
Title: Functional role of inositol-1,4,5-trisphosphate-3-kinase-A for motility of malignant transformed cells.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of inositol-trisphosphate 3-kinase A (ITPKA) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80861 (e-PCR)
- UniSTS:85260

STS-T16315 (e-PCR)
- UniSTS:16183

RH78391 (e-PCR)
- UniSTS:54204

G06356 (e-PCR)
- UniSTS:80606

STS-X54938 (e-PCR)
- UniSTS:35303

SHGC-30069 (e-PCR)
- UniSTS:57580

STS-X54938 (e-PCR)
- UniSTS:15094

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables calcium/calmodulin-dependent protein kinase activity	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables inositol hexakisphosphate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol-1,4,5-trisphosphate 3-kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables small GTPase binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in cellular response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in dendritic spine maintenance	IEA Inferred from Electronic Annotation more info
involved_in inositol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in inositol phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in modification of postsynaptic actin cytoskeleton	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in phosphatidylinositol phosphate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of dendritic spine morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic plasticity	IEA Inferred from Electronic Annotation more info
involved_in response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic actin cytoskeleton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: inositol-trisphosphate 3-kinase A

Names: IP3 3-kinase A; IP3K A; inositol 1,4,5-trisphosphate 3-kinase A; insP 3-kinase A

NP_002211.1

EC 2.7.1.127

XP_047288415.1

EC 2.7.1.127

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.