RIPK5

DSTYK
Identifiers
AliasesDSTYK, CAKUT1, DustyPK, RIP5, RIPK5, HDCMD38P, dual serine/threonine and tyrosine protein kinase, SPG23
External IDsMGI: 1925064 HomoloGene: 19711 GeneCards: DSTYK
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q32.1Start205,142,505 bp[1]
End205,211,566 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

25778

213452

Ensembl

ENSG00000133059

ENSMUSG00000042046

UniProt

Q6XUX3

Q6XUX1

RefSeq (mRNA)

NM_015375
NM_199462

NM_172516

RefSeq (protein)

NP_056190
NP_955749

NP_766104

Location (UCSC)Chr 1: 205.14 – 205.21 MbChr 1: 132.42 – 132.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Dual serine/threonine and tyrosine protein kinase is an enzyme that in humans is encoded by the DSTYK gene.[5][6]

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.[6]

In melanocytic cells RIPK5 gene expression may be regulated by MITF.[7]

Mutations in this gene have been associated with hereditary spastic paraplegia type 23.[8]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000133059 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000042046 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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.
  6. 1 2 "Entrez Gene: RIPK5 receptor interacting protein kinase 5".
  7. ↑ 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.
  8. ↑ 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

  • Robertson NG, Khetarpal U, Gutiérrez-Espeleta GA, et al. (1995). "Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening". Genomics. 23 (1): 42–50. doi:10.1006/geno.1994.1457. PMID 7829101.
  • Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Seki N, Ohira M, Nagase T, et al. (1998). "Characterization of cDNA clones in size-fractionated cDNA libraries from human brain". DNA Res. 4 (5): 345–9. doi:10.1093/dnares/4.5.345. PMID 9455484.
  • Dias Neto E, Correa RG, Verjovski-Almeida S, et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. doi:10.1073/pnas.97.7.3491. PMC 16267. PMID 10737800.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
  • Peng J, Dong W, Chen Y, et al. (2007). "Dusty protein kinases: primary structure, gene evolution, tissue specific expression and unique features of the catalytic domain". Biochim. Biophys. Acta. 1759 (11–12): 562–72. doi:10.1016/j.bbaexp.2006.10.004. PMC 4277547. PMID 17123648.
  • Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.


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