DCAF17

DCAF17
Identifiers
AliasesDCAF17, C2orf37, DDB1 and CUL4 associated factor 17, C20orf37
External IDsMGI: 1923013 HomoloGene: 65979 GeneCards: DCAF17
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q31.1Start171,434,217 bp[1]
End171,485,052 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

80067

75763

Ensembl

ENSG00000115827

ENSMUSG00000041966

UniProt

Q5H9S7

Q3TUL7

RefSeq (mRNA)

NM_001164821
NM_025000

NM_001165980
NM_001165981
NM_001165982
NM_198005

RefSeq (protein)

NP_001158293
NP_079276

NP_001159452
NP_001159453
NP_001159454
NP_932122

Location (UCSC)Chr 2: 171.43 – 171.49 MbChr 2: 71.06 – 71.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

DDB1 and CUL4 associated factor 17 is a protein that in humans is encoded buy the DCAF17 gene.[5]

Function

DCAF17 is a nuclear transmembrane protein that associates with cullin 4A / damaged DNA binding protein 1 ubiquitin ligase complex.[5]

Clinical significance

Mutations in this gene are associated with Woodhouse–Sakati syndrome.[5]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000115827 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041966 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. 1 2 3 "Entrez Gene: DDB1 and CUL4 associated factor 17".

Further reading

  • Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
  • Alazami AM, Schneider SA, Bonneau D, et al. (2010). "C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients". Clin. Genet. 78 (6): 585–90. doi:10.1111/j.1399-0004.2010.01441.x. PMID 20507343.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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.
  • Alazami AM, Al-Saif A, Al-Semari A, et al. (2008). "Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome". Am. J. Hum. Genet. 83 (6): 684–91. doi:10.1016/j.ajhg.2008.10.018. PMC 2668059. PMID 19026396.
  • Lee J, Zhou P (2007). "DCAFs, the missing link of the CUL4-DDB1 ubiquitin ligase". Mol. Cell. 26 (6): 775–80. doi:10.1016/j.molcel.2007.06.001. PMID 17588513.
  • Behrends C, Sowa ME, Gygi SP, Harper JW (2010). "Network organization of the human autophagy system". Nature. 466 (7302): 68–76. doi:10.1038/nature09204. PMC 2901998. PMID 20562859.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
  • Jin J, Arias EE, Chen J, et al. (2006). "A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1". Mol. Cell. 23 (5): 709–21. doi:10.1016/j.molcel.2006.08.010. PMID 16949367.
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