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SKIP

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Protein-coding gene in the species Homo sapiens For other uses, see Skip (disambiguation).
INPP5K
Identifiers
AliasesINPP5K, PPS, SKIP, inositol polyphosphate-5-phosphatase K, MDCCAID
External IDsOMIM: 607875; MGI: 1194899; HomoloGene: 75059; GeneCards: INPP5K; OMA:INPP5K - orthologs
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)
Chromosome 17 (human)Genomic location for INPP5KGenomic location for INPP5K
Band17p13.3Start1,494,577 bp
End1,516,742 bp
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)
Chromosome 11 (mouse)Genomic location for INPP5KGenomic location for INPP5K
Band11 B5|11 45.92 cMStart75,521,814 bp
End75,539,697 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • retinal pigment epithelium

  • right lung

  • right lobe of thyroid gland

  • left lobe of thyroid gland

  • apex of heart

  • granulocyte

  • skin of leg

  • upper lobe of left lung

  • gastric mucosa

  • skin of abdomen
Top expressed in
  • retinal pigment epithelium

  • spermatocyte

  • spermatid

  • granulocyte

  • parotid gland

  • thymus

  • olfactory epithelium

  • right lung

  • right lung lobe

  • neural layer of retina
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
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: 75.52 – 75.54 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

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

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. Overexpression of SKIP in mice affects osmoregulation in kidney collecting ducts.

References

  1. ^ GRCh38: Ensembl release 89: ENSG00000132376Ensembl, May 2017
  2. ^ GRCm38: Ensembl release 89: ENSMUSG00000006127Ensembl, 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. S2CID 27923688.

Further reading

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