DCAF17

DCAF17
Identifiers
Aliases	DCAF17 , C2orf37, DDB1 and CUL4 associated factor 17, C20orf37
External IDs	OMIM: 612515; MGI: 1923013; HomoloGene: 65979; GeneCards: DCAF17; OMA:DCAF17 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) [1] Band 2q31.1 Start 171,434,217 bp [1] End 171,485,052 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2|2 C2 Start 71,055,328 bp [2] End 71,099,142 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle secondary oocyte Achilles tendon ganglionic eminence body of uterus gonad right lobe of thyroid gland ventricular zone left lobe of thyroid gland left ovary Top expressed in otic vesicle hand epithelium of lens Rostral migratory stream spermatocyte tail of embryo secondary oocyte spermatid genital tubercle epithelium of small intestine More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component integral component of membrane Cul4-RING E3 ubiquitin ligase complex nucleolus membrane nucleus cytosol nucleoplasm Biological process post-translational protein modification protein ubiquitination Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 2: 71.06 – 71.1 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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. GRCh38: Ensembl release 89: ENSG00000115827 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000041966 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "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.