ITPKB inositol-trisphosphate 3-kinase B [Homo sapiens (human)] - Gene

Summary

Official Symbol: ITPKBprovided by HGNC
Official Full Name: inositol-trisphosphate 3-kinase Bprovided by HGNC
Primary source: HGNC:HGNC:6179
See related: Ensembl:ENSG00000143772 MIM:147522; AllianceGenome:HGNC:6179
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: IP3K; IP3KB; PIG37; IP3K-B; IP3-3KB
Summary: The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein 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. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 10.0), fat (RPKM 9.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.12

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (226631690..226739282, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (225819873..225927469, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (226819391..226926983, complement)

Chromosome 1 - NC_000001.11 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 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?

Suppression of ITPKB degradation by Trim25 confers TMZ resistance in glioblastoma through ROS homeostasis.
Title: Suppression of ITPKB degradation by Trim25 confers TMZ resistance in glioblastoma through ROS homeostasis.
Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk.
Title: Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk.
Increased Levels of the Parkinson's Disease-Associated Gene ITPKB Correlate with Higher Expression Levels of alpha-Synuclein, Independent of Mutation Status.
Title: Increased Levels of the Parkinson's Disease-Associated Gene ITPKB Correlate with Higher Expression Levels of α-Synuclein, Independent of Mutation Status.
Association of ITPKB, IL1R2 and COQ7 with Parkinson's disease in Taiwan.
Title: Association of ITPKB, IL1R2 and COQ7 with Parkinson's disease in Taiwan.
Severe combined immunodeficiency caused by inositol-trisphosphate 3-kinase B (ITPKB) deficiency.
Title: Severe combined immunodeficiency caused by inositol-trisphosphate 3-kinase B (ITPKB) deficiency.
study also suggests a distinctive signaling function of IP4 that regulates NOX4. Furthermore, pharmaceutical inhibition of ITPKB displayed synergistic attenuation of tumor growth with cisplatin, suggesting ITPKB as a promising synthetic lethal target for cancer therapeutic intervention to overcome cisplatin resistance.
Title: Inositol-triphosphate 3-kinase B confers cisplatin resistance by regulating NOX4-dependent redox balance.
ITPKB does not affect the cellular actin structure and does not suppress dissemination of human lung cancer cells in mice.
Title: Effect of the actin- and calcium-regulating activities of ITPKB on the metastatic potential of lung cancer cells.
miR-140-5p regulates this context-specific autophagy through its target, inositol 1,4,5-trisphosphate kinase 2 (IP3k2). Therefore, the results of the present study demonstrated that miR-140-5p mediated drug-resistance in osteosarcoma cells by inducing autophagy.
Title: miR-140-5p attenuates chemotherapeutic drug-induced cell death by regulating autophagy through inositol 1,4,5-trisphosphate kinase 2 (IP3k2) in human osteosarcoma cells.
The authors confirm downregulation of miR-132 and upregulation of ITPKB in three distinct human Alzheimer's disease patient cohorts.
Title: miR-132 loss de-represses ITPKB and aggravates amyloid and TAU pathology in Alzheimer's brain.
ITPKB is increased in Alzheimer's brain three-fold in the cerebral cortex of most patients with Alzheimer's disease compared with control subjects and accumulates in dystrophic neurites associated with amyloid plaques.
Title: Inositol trisphosphate 3-kinase B is increased in human Alzheimer brain and exacerbates mouse Alzheimer pathology.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2498 (e-PCR)
- UniSTS:153876

SHGC-76461 (e-PCR)
- UniSTS:35105

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-30224 (e-PCR)
- UniSTS:47948

SHGC-146077 (e-PCR)
- UniSTS:174985

SHGC-146114 (e-PCR)
- UniSTS:175014

SHGC-76437 (e-PCR)
- UniSTS:31921

D1S2415 (e-PCR)
- UniSTS:73914

AU049926 (e-PCR)
- UniSTS:146368

RH18113 (e-PCR)
- UniSTS:34775

D1S2232 (e-PCR)
- UniSTS:18665

SHGC-56734 (e-PCR)
- UniSTS:23549

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables calmodulin binding	IEA Inferred from Electronic Annotation more info
enables inositol tetrakisphosphate kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables inositol-1,4,5-trisphosphate 3-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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in MAPK cascade	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in cellular response to calcium ion	IDA Inferred from Direct Assay more info	PubMed
involved_in common myeloid progenitor cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in inositol phosphate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in inositol trisphosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in myeloid cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of myeloid cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neutrophil apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in phosphatidylinositol phosphate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of Ras protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of alpha-beta T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in positive thymic T cell selection	IEA Inferred from Electronic Annotation more info
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 cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: inositol-trisphosphate 3-kinase B

Names: IP3 3-kinase B; IP3K B; inositol 1,4,5-trisphosphate 3-kinase B; insP 3-kinase B; proliferation-inducing protein 37

NP_001375333.1

EC 2.7.1.127

NP_002212.3

EC 2.7.1.127

XP_016856700.1

EC 2.7.1.127

XP_054192400.1

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.