DCA17_HUMAN
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 03-AUG-2022, entry version 122.
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.
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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; 12.
DR IntAct; Q5H9S7; 4.
DR STRING; 9606.ENSP00000364404; -.
DR iPTMnet; Q5H9S7; -.
DR PhosphoSitePlus; Q5H9S7; -.
DR BioMuta; DCAF17; -.
DR DMDM; 74707874; -.
DR EPD; Q5H9S7; -.
DR MassIVE; Q5H9S7; -.
DR MaxQB; Q5H9S7; -.
DR PaxDb; Q5H9S7; -.
DR PeptideAtlas; Q5H9S7; -.
DR PRIDE; Q5H9S7; -.
DR ProteomicsDB; 62909; -. [Q5H9S7-1]
DR ProteomicsDB; 62910; -. [Q5H9S7-2]
DR Antibodypedia; 65882; 40 antibodies from 13 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 CTD; 80067; -.
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; YCKFRRY; -.
DR OrthoDB; 1292766at2759; -.
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; 16 hits in 1123 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 140 other tissues.
DR ExpressionAtlas; Q5H9S7; baseline and differential.
DR Genevisible; Q5H9S7; HS.
DR GO; GO:0080008; C:Cul4-RING E3 ubiquitin ligase complex; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
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; PTHR14815; 1.
DR Pfam; PF15802; DCAF17; 1.
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
