DCAF4_HUMAN
ID DCAF4_HUMAN Reviewed; 495 AA.
AC Q8WV16; B4DUT6; G3V522; Q86U31; Q8IV10; Q96K22; Q9Y4P5;
DT 12-FEB-2003, integrated into UniProtKB/Swiss-Prot.
DT 17-OCT-2006, sequence version 3.
DT 03-AUG-2022, entry version 162.
DE RecName: Full=DDB1- and CUL4-associated factor 4;
DE AltName: Full=WD repeat-containing protein 21A;
GN Name=DCAF4; Synonyms=WDR21, WDR21A;
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 1).
RC TISSUE=Neuroblastoma;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 5).
RC TISSUE=Ovarian carcinoma;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), AND VARIANTS
RP THR-193; PHE-334 AND ILE-439.
RC TISSUE=Brain, and Uterus;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4-495 (ISOFORM 2), AND VARIANTS
RP THR-193 AND PHE-334.
RC TISSUE=Testis;
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 [6]
RP FUNCTION, INTERACTION WITH DDB1 AND CUL4A, AND IDENTIFICATION BY MASS
RP 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 FUNCTION.
RX PubMed=16964240; DOI=10.1038/nature05175;
RA Angers S., Li T., Yi X., MacCoss M.J., Moon R.T., Zheng N.;
RT "Molecular architecture and assembly of the DDB1-CUL4A ubiquitin ligase
RT machinery.";
RL Nature 443:590-593(2006).
RN [8]
RP POLYMORPHISM.
RX PubMed=25624462; DOI=10.1136/jmedgenet-2014-102681;
RA Mangino M., Christiansen L., Stone R., Hunt S.C., Horvath K.,
RA Eisenberg D.T., Kimura M., Petersen I., Kark J.D., Herbig U., Reiner A.P.,
RA Benetos A., Codd V., Nyholt D.R., Sinnreich R., Christensen K., Nassar H.,
RA Hwang S.J., Levy D., Bataille V., Fitzpatrick A.L., Chen W., Berenson G.S.,
RA Samani N.J., Martin N.G., Tishkoff S., Schork N.J., Kyvik K.O.,
RA Dalgaard C., Spector T.D., Aviv A.;
RT "DCAF4, a novel gene associated with leucocyte telomere length.";
RL J. Med. Genet. 52:157-162(2015).
CC -!- FUNCTION: May function as a substrate receptor for CUL4-DDB1 E3
CC ubiquitin-protein ligase complex. {ECO:0000269|PubMed:16949367,
CC ECO:0000269|PubMed:16964240}.
CC -!- PATHWAY: Protein modification; protein ubiquitination.
CC -!- SUBUNIT: Interacts with DDB1 and CUL4A. {ECO:0000269|PubMed:16949367}.
CC -!- INTERACTION:
CC Q8WV16; Q16531: DDB1; NbExp=2; IntAct=EBI-2559135, EBI-350322;
CC Q8WV16-4; P54253: ATXN1; NbExp=3; IntAct=EBI-20852566, EBI-930964;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q8WV16-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8WV16-2; Sequence=VSP_020986, VSP_020987;
CC Name=3;
CC IsoId=Q8WV16-3; Sequence=VSP_047171, VSP_047172;
CC Name=4;
CC IsoId=Q8WV16-4; Sequence=VSP_045427;
CC Name=5;
CC IsoId=Q8WV16-5; Sequence=VSP_047172, VSP_047173;
CC -!- POLYMORPHISM: An intronic G-to-A transition (rs2535913) has been
CC associated with leukocyte telomere length. The minor A allele is
CC associated with shorter telomeres and lower expression in
CC lymphoblastoid cells and in sun-exposed skin (PubMed:25624462).
CC {ECO:0000269|PubMed:25624462}.
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DR EMBL; BX247962; CAD62301.1; -; mRNA.
DR EMBL; AK027745; BAB55337.1; -; mRNA.
DR EMBL; AK300786; BAG62448.1; -; mRNA.
DR EMBL; AC007160; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL442663; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC018979; AAH18979.1; -; mRNA.
DR EMBL; BC035901; AAH35901.1; -; mRNA.
DR EMBL; AL080157; CAB45748.1; -; mRNA.
DR CCDS; CCDS41968.2; -. [Q8WV16-3]
DR CCDS; CCDS55926.1; -. [Q8WV16-5]
DR CCDS; CCDS9809.1; -. [Q8WV16-1]
DR CCDS; CCDS9810.1; -. [Q8WV16-4]
DR PIR; T12541; T12541.
DR RefSeq; NP_001156980.1; NM_001163508.1. [Q8WV16-5]
DR RefSeq; NP_001156981.1; NM_001163509.1.
DR RefSeq; NP_056419.2; NM_015604.3. [Q8WV16-1]
DR RefSeq; NP_851937.1; NM_181340.2. [Q8WV16-4]
DR RefSeq; NP_851938.2; NM_181341.2. [Q8WV16-3]
DR RefSeq; XP_016876696.1; XM_017021207.1. [Q8WV16-1]
DR RefSeq; XP_016876697.1; XM_017021208.1. [Q8WV16-1]
DR PDB; 3I8C; X-ray; 2.80 A; B=124-136.
DR PDBsum; 3I8C; -.
DR AlphaFoldDB; Q8WV16; -.
DR SMR; Q8WV16; -.
DR BioGRID; 117545; 141.
DR DIP; DIP-48761N; -.
DR IntAct; Q8WV16; 30.
DR STRING; 9606.ENSP00000351147; -.
DR iPTMnet; Q8WV16; -.
DR PhosphoSitePlus; Q8WV16; -.
DR BioMuta; DCAF4; -.
DR DMDM; 116242844; -.
DR EPD; Q8WV16; -.
DR MassIVE; Q8WV16; -.
DR MaxQB; Q8WV16; -.
DR PaxDb; Q8WV16; -.
DR PeptideAtlas; Q8WV16; -.
DR PRIDE; Q8WV16; -.
DR ProteomicsDB; 33399; -.
DR ProteomicsDB; 70640; -.
DR ProteomicsDB; 74734; -. [Q8WV16-1]
DR ProteomicsDB; 74735; -. [Q8WV16-2]
DR ProteomicsDB; 74736; -. [Q8WV16-3]
DR Antibodypedia; 25273; 143 antibodies from 20 providers.
DR DNASU; 26094; -.
DR Ensembl; ENST00000358377.7; ENSP00000351147.2; ENSG00000119599.17. [Q8WV16-1]
DR Ensembl; ENST00000394234.6; ENSP00000377781.2; ENSG00000119599.17. [Q8WV16-4]
DR Ensembl; ENST00000509153.5; ENSP00000426178.1; ENSG00000119599.17. [Q8WV16-3]
DR Ensembl; ENST00000555042.5; ENSP00000452131.1; ENSG00000119599.17. [Q8WV16-5]
DR GeneID; 26094; -.
DR KEGG; hsa:26094; -.
DR MANE-Select; ENST00000358377.7; ENSP00000351147.2; NM_015604.4; NP_056419.2.
DR UCSC; uc001xng.4; human. [Q8WV16-1]
DR CTD; 26094; -.
DR DisGeNET; 26094; -.
DR GeneCards; DCAF4; -.
DR HGNC; HGNC:20229; DCAF4.
DR HPA; ENSG00000119599; Low tissue specificity.
DR MIM; 616372; gene.
DR neXtProt; NX_Q8WV16; -.
DR OpenTargets; ENSG00000119599; -.
DR PharmGKB; PA165478762; -.
DR VEuPathDB; HostDB:ENSG00000119599; -.
DR eggNOG; KOG2695; Eukaryota.
DR GeneTree; ENSGT00390000009546; -.
DR HOGENOM; CLU_039586_1_0_1; -.
DR InParanoid; Q8WV16; -.
DR OMA; HGSNERN; -.
DR PhylomeDB; Q8WV16; -.
DR TreeFam; TF332050; -.
DR PathwayCommons; Q8WV16; -.
DR Reactome; R-HSA-8951664; Neddylation.
DR SignaLink; Q8WV16; -.
DR UniPathway; UPA00143; -.
DR BioGRID-ORCS; 26094; 24 hits in 1112 CRISPR screens.
DR ChiTaRS; DCAF4; human.
DR EvolutionaryTrace; Q8WV16; -.
DR GenomeRNAi; 26094; -.
DR Pharos; Q8WV16; Tbio.
DR PRO; PR:Q8WV16; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q8WV16; protein.
DR Bgee; ENSG00000119599; Expressed in skin of leg and 148 other tissues.
DR ExpressionAtlas; Q8WV16; baseline and differential.
DR Genevisible; Q8WV16; HS.
DR GO; GO:0080008; C:Cul4-RING E3 ubiquitin ligase complex; IDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0016567; P:protein ubiquitination; IEA:UniProtKB-UniPathway.
DR Gene3D; 2.130.10.10; -; 1.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR SMART; SM00320; WD40; 2.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 1.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Alternative splicing; Reference proteome; Repeat;
KW Ubl conjugation pathway; WD repeat.
FT CHAIN 1..495
FT /note="DDB1- and CUL4-associated factor 4"
FT /id="PRO_0000051368"
FT REPEAT 368..407
FT /note="WD 1"
FT REPEAT 410..451
FT /note="WD 2"
FT REGION 1..66
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..19
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 20..48
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..100
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045427"
FT VAR_SEQ 118..178
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_047171"
FT VAR_SEQ 269
FT /note="P -> PA (in isoform 3 and isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_047172"
FT VAR_SEQ 329..335
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_047173"
FT VAR_SEQ 432..433
FT /note="VG -> GT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_020986"
FT VAR_SEQ 434..495
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_020987"
FT VARIANT 22
FT /note="W -> C (in dbSNP:rs2302588)"
FT /id="VAR_027908"
FT VARIANT 193
FT /note="K -> T (in dbSNP:rs17856582)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_027909"
FT VARIANT 266
FT /note="N -> S (in dbSNP:rs7155812)"
FT /id="VAR_027910"
FT VARIANT 334
FT /note="L -> F (in dbSNP:rs17856583)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:17974005"
FT /id="VAR_027911"
FT VARIANT 345
FT /note="S -> C (in dbSNP:rs3815460)"
FT /id="VAR_027912"
FT VARIANT 439
FT /note="R -> I (in dbSNP:rs17856584)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_027913"
FT CONFLICT 4
FT /note="S -> G (in Ref. 5; CAB45748)"
FT /evidence="ECO:0000305"
FT CONFLICT 35
FT /note="R -> Q (in Ref. 2; BAB55337)"
FT /evidence="ECO:0000305"
FT CONFLICT 45
FT /note="H -> Y (in Ref. 2; BAB55337)"
FT /evidence="ECO:0000305"
FT CONFLICT 65
FT /note="E -> G (in Ref. 2; BAB55337)"
FT /evidence="ECO:0000305"
FT HELIX 126..134
FT /evidence="ECO:0007829|PDB:3I8C"
SQ SEQUENCE 495 AA; 55694 MW; F104B7F1FC6B5C33 CRC64;
MNKSRWQSRR RHGRRSHQQN PWFRLRDSED RSDSRAAQPA HDSGHGDDES PSTSSGTAGT
SSVPELPGFY FDPEKKRYFR LLPGHNNCNP LTKESIRQKE MESKRLRLLQ EEDRRKKIAR
MGFNASSMLR KSQLGFLNVT NYCHLAHELR LSCMERKKVQ IRSMDPSALA SDRFNLILAD
TNSDRLFTVN DVKVGGSKYG IINLQSLKTP TLKVFMHENL YFTNRKVNSV CWASLNHLDS
HILLCLMGLA ETPGCATLLP ASLFVNSHPG IDRPGMLCSF RIPGAWSCAW SLNIQANNCF
STGLSRRVLL TNVVTGHRQS FGTNSDVLAQ QFALMAPLLF NGCRSGEIFA IDLRCGNQGK
GWKATRLFHD SAVTSVRILQ DEQYLMASDM AGKIKLWDLR TTKCVRQYEG HVNEYAYLPL
HVHEEEGILV AVGQDCYTRI WSLHDARLLR TIPSPYPASK ADIPSVAFSS RLGGSRGAPG
LLMAVGQDLY CYSYS
