IP6K1 geeni, Kr. 3p21.31.

IP6K1 geeni, kromosomi 3p21.31.

IP6K1 inositol hexakisphosphate kinase 1 [ Homo sapiens (human) ]

Yhteenveto: 

 Tämä geeni IP6K1  kuuluu inositolifosfokinaasien perheesen.  Sen koodaama proteiini saattaa vastata inositoli-6- fosfaatin ( fytiinin, IP6) konvertoitumista  difosfo-inositoli-penta-cis-fosfaatiksi  IP7/ PP-IP5. Se saattaa  myös konvertoida  1,3,4,5,6- pentakisfosfaatin (IP5)  muotoon PP-IP4, joka on IP6 variantti.  On kuvattu alternatiivisesti pleissautunut transkriptivariantti.

Gene ID: 9807, updated on 19-Jan-2017

Summary

Official Symbol

IP6K1 provided by HGNC

Official Full Name

inositol hexakisphosphate kinase 1provided by HGNC

Primary source

HGNC:HGNC:18360

See related

Ensembl:ENSG00000176095 MIM:606991; Vega:OTTHUMG00000158197

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

PiUS; IHPK1

Summary

This gene encodes a member of the inositol phosphokinase family. The encoded protein may be responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2011]

LISÄTIETOA artikkeleissa

Related articles in PubMed

1. Discovery of InsP6-kinases as InsP6-dephosphorylating enzymes provides a new mechanism of cytosolic InsP6 degradation driven by the cellular ATP/ADP ratio. Wundenberg T, et al. Biochem J, 2014 Aug 15. PMID 24865181
2. Characterization of a selective inhibitor of inositol hexakisphosphate kinases: use in defining biological roles and metabolic relationships of inositol pyrophosphates. Padmanabhan U, et al. J Biol Chem, 2009 Apr 17. PMID 19208622, Free PMC Article
3. The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus. Kamimura J, et al. J Hum Genet, 2004. PMID 15221640
4. PiUS (Pi uptake stimulator) is an inositol hexakisphosphate kinase. Schell MJ, et al. FEBS Lett, 1999 Nov 19. PMID 10567691
5. Localization of PiUS, a stimulator of cellular phosphate uptake to human chromosome 3p21.3. White KE, et al. Somat Cell Mol Genet, 1998 Jan. PMID 9776982
   

See all (26) citations in PubMed
See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

1. IP6K1 is a novel CRL4 subunit that transduces UV signals to mediate disassembly of the CRL4-CSN complex, thereby regulating nucleotide excision repair and cell death.
2. we identified IP6Ks as novel nuclear and cytosolic InsP6- (and InsP5-) dephosphorylating enzymes whose activity is sensitively driven by a decrease in the cellular ATP/ADP ratio
3. FGF2-signaling involves the inositol polyphosphate cascade, including inositol hexakisphosphate kinase (IP6K), and demonstrate that IP6K1,2 regulates Runx2 and osteoblast gene expression.
4. Observational study of gene-disease association. (HuGE Navigator)
5. Results report the characterization of an inhibitor, N(2)-(m-(trifluoromethy)lbenzyl) N(6)-(p-nitrobenzyl)purine (TNP), selective for inositol hexakisphosphate kinases.
6. IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus
   Muistiin 24.1. 2017