DCAF17

DDB1 and CUL4 associated factor 17
Identifiers
Symbols	DCAF17; C2orf37; DKFZp781C2086; FLJ13096; FLJ44210
External IDs	OMIM: 612515 MGI: 1923013 HomoloGene: 65979 GeneCards: DCAF17 Gene
Gene Ontology Cellular component • nucleus • nucleolus • membrane • integral to membrane • CUL4 RING ubiquitin ligase complex Biological process • protein ubiquitination Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	80067	75763
Ensembl	ENSG00000115827	ENSMUSG00000041966
UniProt	Q5H9S7	Q3TUL7
RefSeq (mRNA)	NM_001164821.1	NM_001165980
RefSeq (protein)	NP_001158293.1	NP_001159452
Location (UCSC)	Chr 2: 172.29 – 172.34 Mb	Chr 2: 70.89 – 70.94 Mb
PubMed search	[1]	[2]

DDB1 and CUL4 associated factor 17 is a protein that in humans is encoded buy the DCAF17 gene.^[1]

Function

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

Clinical significance

Mutations in this gene are associated with Woodhouse–Sakati syndrome.^[1]

References

1. ^ ^{a b c} "Entrez Gene: DDB1 and CUL4 associated factor 17". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80067. 

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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2901998. 
• 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.