RIPK5

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Dual serine/threonine and tyrosine protein kinase is an enzyme that in humans is encoded by the DSTYK gene.[1][2]

This protein is also known as the Dusty protein kinase and the Receptor interacting protein 5 (RIP5).

This gene encodes a dual serine/threonine and tyrosine protein kinase which is expressed in multiple tissues. Multiple alternatively spliced transcript variants have been found, but the biological validity of some variants has not been determined.[2]

In melanocytic cells RIPK5 gene expression may be regulated by MITF.[3]

Mutations in this gene have been associated with hereditary spastic paraplegia type 23.[4]

References

  1. Zha J, Zhou Q, Xu LG, Chen D, Li L, Zhai Z, Shu HB (Jun 2004). "RIP5 is a RIP-homologous inducer of cell death". Biochem Biophys Res Commun. 319 (2): 298–303. doi:10.1016/j.bbrc.2004.04.194. PMID 15178406.
  2. 2.0 2.1 "Entrez Gene: RIPK5 receptor interacting protein kinase 5".
  3. Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971.
  4. Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA (2017) Large intragenic deletion in DSTYK underlies autosomal-recessive complicated spastic paraparesis, SPG23. Am J Hum Genet 100(2):364-370

Further reading