SKIP

SKIP is an acronym for Skeletal muscle and kidney enriched inositol phosphatase, which is a human gene.[5]

INPP5K
Identifiers
AliasesINPP5K, PPS, SKIP, inositol polyphosphate-5-phosphatase K, MDCCAID
External IDsOMIM: 607875 MGI: 1194899 HomoloGene: 75059 GeneCards: INPP5K
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17p13.3Start1,494,577 bp[1]
End1,516,742 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

51763

19062

Ensembl

ENSG00000132376

ENSMUSG00000006127

UniProt

Q9BT40

Q8C5L6

RefSeq (mRNA)

NM_001135642
NM_016532
NM_130766

NM_008916

RefSeq (protein)

NP_001129114
NP_057616
NP_570122

NP_032942

Location (UCSC)Chr 17: 1.49 – 1.52 MbChr 11: 75.63 – 75.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes a protein with 5-phosphatase activity toward polyphosphate inositol. The protein localizes to the cytosol in regions lacking actin stress fibers. It is thought that this protein may negatively regulate the actin cytoskeleton. Alternative splicing of this gene results in two transcript variants encoding different isoforms.[5] Overexpression of SKIP in mice affects osmoregulation in kidney collecting ducts.[6]

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References

  1. GRCh38: Ensembl release 89: ENSG00000132376 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000006127 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: SKIP skeletal muscle and kidney enriched inositol phosphatase".
  6. Pernot E, Terryn S, Cheong SC, Markadieu N, Janas S, Blockmans M, Jacoby M, Pouillon V, Gayral S, Rossier BC, Beauwens R, Erneux C, Devuyst O, Schurmans S (Dec 2011). "The inositol Inpp5k 5-phosphatase affects osmoregulation through the vasopressin-aquaporin 2 pathway in the collecting system" (PDF). Pflügers Archiv. 462 (6): 871–83. doi:10.1007/s00424-011-1028-0. PMID 21938401.

Further reading

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