ID DCA17_HUMAN Reviewed; 520 AA. AC Q5H9S7; B2RTW5; Q53TN3; Q9H908; DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot. DT 15-FEB-2005, sequence version 1. DT 27-MAR-2024, entry version 130. DE RecName: Full=DDB1- and CUL4-associated factor 17; GN Name=DCAF17; Synonyms=C2orf37; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RX PubMed=14702039; DOI=10.1038/ng1285; RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., RA Isogai T., Sugano S.; RT "Complete sequencing and characterization of 21,243 full-length human RT cDNAs."; RL Nat. Genet. 36:40-45(2004). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Testis carcinoma; RX PubMed=17974005; DOI=10.1186/1471-2164-8-399; RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., RA Wiemann S., Schupp I.; RT "The full-ORF clone resource of the German cDNA consortium."; RL BMC Genomics 8:399-399(2007). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15815621; DOI=10.1038/nature03466; RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., RA Wilson R.K.; RT "Generation and annotation of the DNA sequences of human chromosomes 2 and RT 4."; RL Nature 434:724-731(2005). RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases. RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). RC TISSUE=Brain; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [6] RP FUNCTION, INTERACTION WITH DDB1; CUL4A AND CUL4B, AND IDENTIFICATION BY RP MASS SPECTROMETRY. RX PubMed=16949367; DOI=10.1016/j.molcel.2006.08.010; RA Jin J., Arias E.E., Chen J., Harper J.W., Walter J.C.; RT "A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is RT required for S phase destruction of the replication factor Cdt1."; RL Mol. Cell 23:709-721(2006). RN [7] RP TISSUE SPECIFICITY, SUBCELLULAR LOCATION, ALTERNATIVE SPLICING, AND RP INVOLVEMENT IN WDSKS. RX PubMed=19026396; DOI=10.1016/j.ajhg.2008.10.018; RA Alazami A.M., Al-Saif A., Al-Semari A., Bohlega S., Zlitni S., RA Alzahrani F., Bavi P., Kaya N., Colak D., Khalak H., Baltus A., RA Peterlin B., Danda S., Bhatia K.P., Schneider S.A., Sakati N., Walsh C.A., RA Al-Mohanna F., Meyer B., Alkuraya F.S.; RT "Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, RT alopecia, diabetes mellitus, mental retardation, and extrapyramidal RT syndrome."; RL Am. J. Hum. Genet. 83:684-691(2008). CC -!- FUNCTION: May function as a substrate receptor for CUL4-DDB1 E3 CC ubiquitin-protein ligase complex. {ECO:0000269|PubMed:16949367}. CC -!- PATHWAY: Protein modification; protein ubiquitination. CC -!- SUBUNIT: Interacts with DDB1, CUL4A and CUL4B. CC {ECO:0000269|PubMed:16949367}. CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane CC protein {ECO:0000305}. Nucleus, nucleolus CC {ECO:0000269|PubMed:19026396}. Note=According to PubMed:19026396, it is CC a nucleolar protein, while sequence analysis programs clearly predict 2 CC transmembrane regions. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q5H9S7-1; Sequence=Displayed; CC Name=2; CC IsoId=Q5H9S7-2; Sequence=VSP_027788; CC -!- TISSUE SPECIFICITY: Ubiquitously expressed. CC {ECO:0000269|PubMed:19026396}. CC -!- DISEASE: Woodhouse-Sakati syndrome (WDSKS) [MIM:241080]: A rare CC autosomal recessive disorder characterized by hypogonadism, alopecia, CC diabetes mellitus, intellectual disability, and extrapyramidal CC syndrome. {ECO:0000269|PubMed:19026396}. Note=The disease is caused by CC variants affecting the gene represented in this entry. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AK023158; BAB14436.1; -; mRNA. DR EMBL; CR933646; CAI45947.1; -; mRNA. DR EMBL; AC007969; AAY14729.1; -; Genomic_DNA. DR EMBL; CH471058; EAX11213.1; -; Genomic_DNA. DR EMBL; BC120957; AAI20958.1; -; mRNA. DR EMBL; BC140843; AAI40844.1; -; mRNA. DR CCDS; CCDS2243.2; -. [Q5H9S7-1] DR RefSeq; NP_079276.2; NM_025000.3. [Q5H9S7-1] DR AlphaFoldDB; Q5H9S7; -. DR BioGRID; 123098; 18. DR ComplexPortal; CPX-2415; CRL4-DCAF17 E3 ubiquitin ligase complex, CUL4A variant. DR ComplexPortal; CPX-2416; CRL4-DCAF17 E3 ubiquitin ligase complex, CUL4B variant. DR IntAct; Q5H9S7; 4. DR STRING; 9606.ENSP00000364404; -. DR GlyGen; Q5H9S7; 1 site, 1 O-linked glycan (1 site). DR iPTMnet; Q5H9S7; -. DR PhosphoSitePlus; Q5H9S7; -. DR BioMuta; DCAF17; -. DR DMDM; 74707874; -. DR EPD; Q5H9S7; -. DR MassIVE; Q5H9S7; -. DR MaxQB; Q5H9S7; -. DR PaxDb; 9606-ENSP00000364404; -. DR PeptideAtlas; Q5H9S7; -. DR ProteomicsDB; 62909; -. [Q5H9S7-1] DR ProteomicsDB; 62910; -. [Q5H9S7-2] DR Antibodypedia; 65882; 47 antibodies from 14 providers. DR DNASU; 80067; -. DR Ensembl; ENST00000375255.8; ENSP00000364404.3; ENSG00000115827.14. [Q5H9S7-1] DR Ensembl; ENST00000611110.4; ENSP00000477604.1; ENSG00000115827.14. [Q5H9S7-2] DR GeneID; 80067; -. DR KEGG; hsa:80067; -. DR MANE-Select; ENST00000375255.8; ENSP00000364404.3; NM_025000.4; NP_079276.2. DR UCSC; uc002ugx.3; human. [Q5H9S7-1] DR AGR; HGNC:25784; -. DR DisGeNET; 80067; -. DR GeneCards; DCAF17; -. DR GeneReviews; DCAF17; -. DR HGNC; HGNC:25784; DCAF17. DR HPA; ENSG00000115827; Low tissue specificity. DR MalaCards; DCAF17; -. DR MIM; 241080; phenotype. DR MIM; 612515; gene. DR neXtProt; NX_Q5H9S7; -. DR OpenTargets; ENSG00000115827; -. DR Orphanet; 3464; Woodhouse-Sakati syndrome. DR PharmGKB; PA165696520; -. DR VEuPathDB; HostDB:ENSG00000115827; -. DR eggNOG; ENOG502QQ41; Eukaryota. DR GeneTree; ENSGT00390000012728; -. DR HOGENOM; CLU_072608_0_0_1; -. DR InParanoid; Q5H9S7; -. DR OMA; IQEMNCC; -. DR OrthoDB; 3018723at2759; -. DR PhylomeDB; Q5H9S7; -. DR TreeFam; TF328801; -. DR PathwayCommons; Q5H9S7; -. DR Reactome; R-HSA-8951664; Neddylation. DR SignaLink; Q5H9S7; -. DR UniPathway; UPA00143; -. DR BioGRID-ORCS; 80067; 19 hits in 1201 CRISPR screens. DR ChiTaRS; DCAF17; human. DR GeneWiki; DCAF17; -. DR GenomeRNAi; 80067; -. DR Pharos; Q5H9S7; Tbio. DR PRO; PR:Q5H9S7; -. DR Proteomes; UP000005640; Chromosome 2. DR RNAct; Q5H9S7; Protein. DR Bgee; ENSG00000115827; Expressed in cortical plate and 141 other cell types or tissues. DR ExpressionAtlas; Q5H9S7; baseline and differential. DR GO; GO:0080008; C:Cul4-RING E3 ubiquitin ligase complex; IDA:UniProtKB. DR GO; GO:0005829; C:cytosol; IDA:HPA. DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell. DR GO; GO:0005730; C:nucleolus; IEA:UniProtKB-SubCell. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0016567; P:protein ubiquitination; IEA:UniProtKB-UniPathway. DR InterPro; IPR031620; DCAF17. DR PANTHER; PTHR14815; DDB1- AND CUL4-ASSOCIATED FACTOR 17; 1. DR PANTHER; PTHR14815:SF2; DDB1- AND CUL4-ASSOCIATED FACTOR 17; 1. DR Pfam; PF15802; DCAF17; 1. DR Genevisible; Q5H9S7; HS. PE 1: Evidence at protein level; KW Alternative splicing; Deafness; Diabetes mellitus; Hypotrichosis; KW Intellectual disability; Membrane; Nucleus; Reference proteome; KW Transmembrane; Transmembrane helix; Ubl conjugation pathway. FT CHAIN 1..520 FT /note="DDB1- and CUL4-associated factor 17" FT /id="PRO_0000300118" FT TRANSMEM 186..206 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 222..242 FT /note="Helical" FT /evidence="ECO:0000255" FT VAR_SEQ 1..280 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039, FT ECO:0000303|PubMed:15489334" FT /id="VSP_027788" FT VARIANT 185 FT /note="H -> Q (in dbSNP:rs3731984)" FT /id="VAR_050711" FT CONFLICT 504 FT /note="Q -> H (in Ref. 1; BAB14436)" FT /evidence="ECO:0000305" SQ SEQUENCE 520 AA; 58778 MW; 61ECEEECCC97A606 CRC64; MGPTRKPNVC SRLSRRALGC FSRDAGVVQR TNLGILRALV CQESTKFKNV WTTHSRSPIA YERGRIYFDN YRRCVSSVAS EPRKLYEMPK CSKSEKIEDA LLWECPVGDI LPNSSDYKSS LIALTAHNWL LRISATTGKI LEKIYLAPYC KFRYLSWDTP QEVIAVKSAQ NRGSAVARQA GIQQHVLLYL AVFRVLPFSL VGILEINKKI FGNVTDATLS HGILIVMYSS GLVRLYSFQT IAEQFMQQKL DLGCACRWGG TTGTVGEAPF GIPCNIKITD MPPLLFEVSS LENAFQIGGH PWHYIVTPNK KKQKGVFHIC ALKDNSLAKN GIQEMDCCSL ESDWIYFHPD ASGRIIHVGP NQVKVLKLTE IENNSSQHQI SEDFVILANR ENHKNENVLT VTASGRVVKK SFNLLDDDPE QETFKIVDYE DELDLLSVVA VTQIDAEGKA HLDFHCNEYG TLLKSIPLVE SWDVTYSHEV YFDRDLVLHI EQKPNRVFSC YVYQMICDTG EEEETINRSC //