IPMK inositol polyphosphate multikinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: IPMKprovided by HGNC
Official Full Name: inositol polyphosphate multikinaseprovided by HGNC
Primary source: HGNC:HGNC:20739
See related: Ensembl:ENSG00000151151 MIM:609851
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
Summary: This gene encodes a member of the inositol phosphokinase family. The encoded protein has 3-kinase, 5-kinase and 6-kinase activities on phosphorylated inositol substrates. The encoded protein plays an important role in the biosynthesis of inositol 1,3,4,5,6-pentakisphosphate, and has a preferred 5-kinase activity. This gene may play a role in nuclear mRNA export. Pseudogenes of this gene are located on the long arm of chromosome 13 and the short arm of chromosome 19. [provided by RefSeq, Dec 2010]
Expression: Ubiquitous expression in colon (RPKM 5.2), small intestine (RPKM 4.9) and 25 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 10q21.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109.20190905	current	GRCh38.p13 (GCF_000001405.39)	10	NC_000010.11 (58191517..58269961, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (59951278..60027694, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Data suggest that IPMK exhibits constrained, horseshoe-shaped substrate pocket, formed from an alpha-helix, a 3(10) helix, and a recently evolved tri-proline loop; headgroups of substrates (inositol 4,5-bisphosphate and inositol 1,4,5-trisphosphate) bind in precisely the same orientation, indicative of evolutionary optimization of 3-kinase activities against both substrates.
Title: Structural features of human inositol phosphate multikinase rationalize its inositol phosphate kinase and phosphoinositide 3-kinase activities.
IPMK is a versatile regulator of nuclear signaling events. (Review)
Title: IPMK: A versatile regulator of nuclear signaling events.
No IPMK mutation was found in constitutional or tumor DNA in patients with familial small-intestine neuroendocrine carcinoids. CGH array revealed recurrent chromosome-18 deletions but no alteration in the IPMK region.
Title: Familial small-intestine carcinoids: Chromosomal alterations and germline inositol polyphosphate multikinase sequencing.
This study demonstrated that identified genetic overlap between Alzheimer Disease disease and immune-mediated diseases, implicating the HLA locus and IPMK in the pathobiology of Alzheimer Disease.
Title: Association Between Genetic Traits for Immune-Mediated Diseases and Alzheimer Disease.
a severe loss of IPMK in the striatum of Huntington disease patients and in several cellular and animal models of the disease, is reported.
Title: Huntington's disease: Neural dysfunction linked to inositol polyphosphate multikinase.
A hereditary form of small intestinal carcinoid associated with a germline mutation in IPMK.
Title: A Hereditary Form of Small Intestinal Carcinoid Associated With a Germline Mutation in Inositol Polyphosphate Multikinase.
Future research should focus on the hitherto unknown non-conventional import of IPMK and the potential impact of its dysregulation on IPMK signaling pathways regulating cellular growth and proliferation.
Title: Efficacious inhibition of Importin α/β-mediated nuclear import of human inositol phosphate multikinase.
Knockdown of expression and/or inhibition of function of phospholipase Cgamma1, inositol polyphosphate multikinase, which generates inositol 1,3,4,5-tetrakisphosphate (InsP) and InsP, and inositol hexakisphosphate kinase 1/2
Title: The regulation of runt-related transcription factor 2 by fibroblast growth factor-2 and connexin43 requires the inositol polyphosphate/protein kinase Cδ cascade.
Our findings implicate IPMK in a transcript-selective mRNA export pathway controlled by phosphoinositide turnover that preserves genome integrity in humans.
Title: Human inositol polyphosphate multikinase regulates transcript-selective nuclear mRNA export to preserve genome integrity.
Results suggest that inositol polyphosphate multikinase (IPMK) acts as a transcriptional coactivator for p53 and that it is an integral part of the p53 transcriptional complex facilitating cell death.
Title: Inositol polyphosphate multikinase is a coactivator of p53-mediated transcription and cell death.

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

NHGRI GWAS Catalog

Description
Genetics of coronary artery calcification among African Americans, a meta-analysis. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. NHGRI GWA Catalog NHGRI GWA CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. NHGRI GWA Catalog NHGRI GWA 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)

Pathways from BioSystems

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1D-myo-inositol hexakisphosphate biosynthesis II (mammalian), organism-specific biosystem (from BIOCYC)
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian), organism-specific biosystemGeneral Background : MI-HEXAKISPHOSPHATE (phytate, phytic acid) is one of the most prevalent forms of phosphorylated inositols in the cell, with a total concentration of 15-100 μM . It's cellula...
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian), conserved biosystem (from BIOCYC)
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian), conserved biosystemGeneral Background |FRAME: MI-HEXAKISPHOSPHATE| (phytate, phytic acid) is one of the most prevalent forms of phosphorylated inositols in the eukaryotic cell, with a total concentration of 15-100 &m...
1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3), organism-specific biosystem (from BIOCYC)
1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3), organism-specific biosystem
1D-myo-inositol hexakisphosphate biosynthesis V (from Ins(1,3,4)P3)
D-myo-inositol (1,3,4)-trisphosphate biosynthesis, organism-specific biosystem (from BIOCYC)
D-myo-inositol (1,3,4)-trisphosphate biosynthesis, organism-specific biosystem: INOSITOL-1-4-5-TRISPHOSPHATE is a secondary messenger molecule used in signal transduction and lipid signaling. It mediates the biological response of a large number of hormones and neurotransmitte...
D-myo-inositol (1,3,4)-trisphosphate biosynthesis, conserved biosystem (from BIOCYC)
D-myo-inositol (1,3,4)-trisphosphate biosynthesis, conserved biosystem|FRAME: INOSITOL-1-4-5-TRISPHOSPHATE| is a secondary messenger molecule used in signal transduction and lipid signaling in eukaryotic cells. It mediates the biological response of a large number of h...
D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis, organism-specific biosystem (from BIOCYC)
D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis, organism-specific biosystemLike several other inositol phosphates, : INOSITOL-1456-TETRAKISPHOSPHATE is a second messenger molecule that plays a critical role in cellular signaling . At micromolar concentrations it inhibits IG...
D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis, conserved biosystem (from BIOCYC)
D-myo-inositol (1,4,5,6)-tetrakisphosphate biosynthesis, conserved biosystemLike several other inositol phosphates, |FRAME: INOSITOL-1456-TETRAKISPHOSPHATE| is a second messenger molecule that plays a critical role in cellular signaling |CITS: [11457089]|. At micromolar conc...
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis, organism-specific biosystem (from BIOCYC)
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis, organism-specific biosystemOne of the numerous cytosolic inositol polyphosphates that serve special fiunctions in the cell, : CPD-178 has been characterized as a receptor-generated negative intracellular regulator of one or mo...
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis, conserved biosystem (from BIOCYC)
D-myo-inositol (3,4,5,6)-tetrakisphosphate biosynthesis, conserved biosystemOne of the numerous cytosolic inositol polyphosphates that serve special fiunctions in the cell, |FRAME: CPD-178| has been characterized as a receptor-generated negative intracellular regulator of on...
Inositol phosphate metabolism, organism-specific biosystem (from KEGG)
Inositol phosphate metabolism, organism-specific biosystem
Inositol phosphate metabolism
Inositol phosphate metabolism, organism-specific biosystem (from REACTOME)
Inositol phosphate metabolism, organism-specific biosystemInositol phosphates (IPs) are molecules involves in signalling processes in eukaryotes. myo-Inositol consists of a six-carbon cyclic alcohol with an axial 2-hydroxy and five equatorial hydroxyls. M...
Inositol phosphate metabolism, conserved biosystem (from KEGG)
Inositol phosphate metabolism, conserved biosystem
Inositol phosphate metabolism
Inositol phosphate metabolism, Ins(1,3,4)P3 => phytate, organism-specific biosystem (from KEGG)
Inositol phosphate metabolism, Ins(1,3,4)P3 => phytate, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Lipid metabolism
Inositol phosphate metabolism, Ins(1,3,4)P3 => phytate, conserved biosystem (from KEGG)
Inositol phosphate metabolism, Ins(1,3,4)P3 => phytate, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Lipid metabolism
Metabolic pathways, organism-specific biosystem (from KEGG)
Metabolic pathways, organism-specific biosystem
Metabolic pathways
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Phosphatidylinositol signaling system, organism-specific biosystem (from KEGG)
Phosphatidylinositol signaling system, organism-specific biosystem
Phosphatidylinositol signaling system
Phosphatidylinositol signaling system, conserved biosystem (from KEGG)
Phosphatidylinositol signaling system, conserved biosystem
Phosphatidylinositol signaling system
Synthesis of IPs in the nucleus, organism-specific biosystem (from REACTOME)
Synthesis of IPs in the nucleus, organism-specific biosystemWithin the nucleus, inositol polyphosphate multikinase (IPMK), inositol-pentakisphosphate 2-kinase (IPPK), inositol hexakisphosphate kinase 1 (IP6K1) and 2 (IP6K2) produce IP5, IP6, IP7, and IP8 inos...
inositol pyrophosphates biosynthesis, organism-specific biosystem (from BIOCYC)
inositol pyrophosphates biosynthesis, organism-specific biosystemIn the early 1990s, two groups working independently discovered a novel subgroup of the inositol phosphate signaling family in which diphosphate groups are added to : CPD-1107 and : MI-HEXAKISPHOSPHA...
inositol pyrophosphates biosynthesis, conserved biosystem (from BIOCYC)
inositol pyrophosphates biosynthesis, conserved biosystemIn the early 1990s, two groups working independently discovered a novel subgroup of the inositol phosphate signaling family in which diphosphate groups are added to |FRAME: CPD-1107| and |FRAME: MI-H...
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, organism-specific biosystem (from BIOCYC)
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, organism-specific biosystem
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, conserved biosystem (from BIOCYC)
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism, conserved biosystem|FRAME: INOSITOL-1-4-5-TRISPHOSPHATE| is a secondary messenger molecule used in signal transduction and lipid signaling in eukaryotic cells. It mediates the biological response of a large number of h...
superpathway of inositol phosphate compounds, organism-specific biosystem (from BIOCYC)
superpathway of inositol phosphate compounds, organism-specific biosystem
superpathway of inositol phosphate compounds

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S268 (e-PCR)
- UniSTS:147985

ECD08264 (e-PCR)
- UniSTS:289312

REN77673 (e-PCR)
- UniSTS:402473

RH118949 (e-PCR)
- UniSTS:138234

Homology

Homologs of the IPMK gene: The IPMK gene is conserved in chimpanzee, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, rice, and frog.
Orthologs from Annotation Pipeline: 289 organisms have orthologs with human gene IPMK
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ATP binding	IEA Inferred from Electronic Annotation more info
flavonoid binding	IDA Inferred from Direct Assay more info	PubMed
inositol tetrakisphosphate 3-kinase activity	TAS Traceable Author Statement more info
inositol tetrakisphosphate 5-kinase activity	TAS Traceable Author Statement more info
inositol tetrakisphosphate 6-kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
inositol tetrakisphosphate 6-kinase activity	TAS Traceable Author Statement more info
inositol-1,4,5-trisphosphate 3-kinase activity	IDA Inferred from Direct Assay more info	PubMed
inositol-1,4,5-trisphosphate 3-kinase activity	TAS Traceable Author Statement more info
inositol-1,4,5-trisphosphate 6-kinase activity	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info
myo-inositol-1,2,3,4,6-heptakisphosphate 5-kinase activity	IEA Inferred from Electronic Annotation more info
phosphatidylinositol-3,4-bisphosphate 5-kinase activity	IEA Inferred from Electronic Annotation more info
phosphatidylinositol-4,5-bisphosphate 3-kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
inositol phosphate biosynthetic process	IEA Inferred from Electronic Annotation more info
inositol phosphate metabolic process	TAS Traceable Author Statement more info
inositol trisphosphate metabolic process	IDA Inferred from Direct Assay more info	PubMed
necroptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
phosphatidylinositol phosphorylation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleoplasm	IDA Inferred from Direct Assay more info
nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: inositol polyphosphate multikinase

Names: inositol 1,3,4,6-tetrakisphosphate 5-kinase

NP_689416.1

EC 2.7.1.140

EC 2.7.1.151

EC 2.7.1.153

XP_011537867.1

EC 2.7.1.140

EC 2.7.1.151

EC 2.7.1.153

XP_016871502.1

EC 2.7.1.140

EC 2.7.1.151

EC 2.7.1.153

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.

mRNA and Protein(s)

NM_152230.5 → NP_689416.1 inositol polyphosphate multikinase

See identical proteins and their annotated locations for NP_689416.1

Status: REVIEWED

Source sequence(s)

AC026884, BC065709

Consensus CDS

CCDS7250.1

UniProtKB/Swiss-Prot

Q8NFU5

Related

ENSP00000363046.3, ENST00000373935.4

Conserved Domains (1) summary

pfam03770
Location:127 → 411

IPK; Inositol polyphosphate kinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p13 Primary Assembly

Range

58191517..58269961 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017016013.2 → XP_016871502.1 inositol polyphosphate multikinase isoform X2
XM_011539565.3 → XP_011537867.1 inositol polyphosphate multikinase isoform X1

Conserved Domains (1) summary

pfam03770
Location:130 → 414

IPK; Inositol polyphosphate kinase