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
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Genomic context

Location:: 10q21.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	10	NC_000010.11 (58191517..58269961, complement)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (59951278..60027654, complement)

Chromosome 10 - NC_000010.11 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
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?

Inositol Polyphosphate Multikinase Inhibits Liquid-Liquid Phase Separation of TFEB to Negatively Regulate Autophagy Activity.
Title: Inositol Polyphosphate Multikinase Inhibits Liquid-Liquid Phase Separation of TFEB to Negatively Regulate Autophagy Activity.
Deletion of IPMK in cell lines and intact mice virtually abolishes lipophagy, promotes liver damage as well as inflammation, and impairs hepatocyte regeneration.
Title: IPMK Mediates Activation of ULK Signaling and Transcriptional Regulation of Autophagy Linked to Liver Inflammation and Regeneration.
rs2790234 and rs6481383 are associated with longevity in women.
Title: Inositol Polyphosphate Multikinase (<i>IPMK</i>), a Gene Coding for a Potential Moonlighting Protein, Contributes to Human Female Longevity.
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.

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

Associated conditions

Description	Tests
Genetics of coronary artery calcification among African Americans, a meta-analysis. GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available

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

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: 408 organisms have orthologs with human gene IPMK
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables flavonoid binding	IDA Inferred from Direct Assay more info	PubMed
enables inositol tetrakisphosphate 3-kinase activity	TAS Traceable Author Statement more info
enables inositol tetrakisphosphate 5-kinase activity	TAS Traceable Author Statement more info
enables inositol tetrakisphosphate 6-kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables inositol tetrakisphosphate 6-kinase activity	TAS Traceable Author Statement more info
enables inositol tetrakisphosphate kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables inositol-1,4,5-trisphosphate 3-kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables inositol-1,4,5-trisphosphate 3-kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables inositol-1,4,5-trisphosphate 3-kinase activity	TAS Traceable Author Statement more info
enables inositol-1,4,5-trisphosphate 6-kinase activity	IEA Inferred from Electronic Annotation more info
enables kinase activity	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables myo-inositol-1,2,3,4,6-heptakisphosphate 5-kinase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-3,4-bisphosphate 5-kinase activity	IEA Inferred from Electronic Annotation more info
enables phosphatidylinositol-4,5-bisphosphate 3-kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

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

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

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 Updated Annotation Release 109.20210514

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