| DCAF17 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | DCAF17, C2orf37, DDB1 and CUL4 associated factor 17, C20orf37 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 612515 MGI: 1923013 HomoloGene: 65979 GeneCards: DCAF17 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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 2 3 GRCh38: Ensembl release 89: ENSG00000115827 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000041966 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- 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. S2CID 1131691.
- 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. Bibcode:2002PNAS...9916899M. 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. Bibcode:2010Natur.466...68B. 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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