WDR53_HUMAN
ID WDR53_HUMAN Reviewed; 358 AA.
AC Q7Z5U6; A0MNP1;
DT 27-SEP-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=WD repeat-containing protein 53;
GN Name=WDR53;
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 [MRNA].
RX PubMed=17041588; DOI=10.1038/ncb1490;
RA Higa L.A., Wu M., Ye T., Kobayashi R., Sun H., Zhang H.;
RT "CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat proteins
RT and regulates histone methylation.";
RL Nat. Cell Biol. 8:1277-1283(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Cerebellum;
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].
RA Mural R.J., Istrail S., Sutton 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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
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 VARIANT [LARGE SCALE ANALYSIS] CYS-60.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- SIMILARITY: Belongs to the WD repeat WDR53 family. {ECO:0000305}.
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DR EMBL; EF011620; ABK41110.1; -; mRNA.
DR EMBL; AK314105; BAG36798.1; -; mRNA.
DR EMBL; CH471191; EAW53646.1; -; Genomic_DNA.
DR EMBL; CH471191; EAW53647.1; -; Genomic_DNA.
DR EMBL; BC054030; AAH54030.1; -; mRNA.
DR CCDS; CCDS3318.1; -.
DR RefSeq; NP_001332835.1; NM_001345906.1.
DR RefSeq; NP_001332836.1; NM_001345907.1.
DR RefSeq; NP_001332837.1; NM_001345908.1.
DR RefSeq; NP_001332838.1; NM_001345909.1.
DR RefSeq; NP_001332839.1; NM_001345910.1.
DR RefSeq; NP_872433.1; NM_182627.2.
DR AlphaFoldDB; Q7Z5U6; -.
DR SMR; Q7Z5U6; -.
DR BioGRID; 131531; 10.
DR IntAct; Q7Z5U6; 4.
DR STRING; 9606.ENSP00000328079; -.
DR iPTMnet; Q7Z5U6; -.
DR PhosphoSitePlus; Q7Z5U6; -.
DR BioMuta; WDR53; -.
DR DMDM; 74762439; -.
DR EPD; Q7Z5U6; -.
DR jPOST; Q7Z5U6; -.
DR MassIVE; Q7Z5U6; -.
DR MaxQB; Q7Z5U6; -.
DR PaxDb; Q7Z5U6; -.
DR PeptideAtlas; Q7Z5U6; -.
DR PRIDE; Q7Z5U6; -.
DR ProteomicsDB; 69354; -.
DR Antibodypedia; 2878; 66 antibodies from 17 providers.
DR DNASU; 348793; -.
DR Ensembl; ENST00000332629.7; ENSP00000328079.5; ENSG00000185798.8.
DR GeneID; 348793; -.
DR KEGG; hsa:348793; -.
DR MANE-Select; ENST00000332629.7; ENSP00000328079.5; NM_182627.3; NP_872433.1.
DR UCSC; uc003fwt.4; human.
DR CTD; 348793; -.
DR DisGeNET; 348793; -.
DR GeneCards; WDR53; -.
DR HGNC; HGNC:28786; WDR53.
DR HPA; ENSG00000185798; Tissue enriched (testis).
DR MIM; 615110; gene.
DR neXtProt; NX_Q7Z5U6; -.
DR OpenTargets; ENSG00000185798; -.
DR PharmGKB; PA134948456; -.
DR VEuPathDB; HostDB:ENSG00000185798; -.
DR eggNOG; ENOG502QQ86; Eukaryota.
DR GeneTree; ENSGT00390000011073; -.
DR HOGENOM; CLU_057939_1_0_1; -.
DR InParanoid; Q7Z5U6; -.
DR OMA; EINCLSV; -.
DR OrthoDB; 1551636at2759; -.
DR PhylomeDB; Q7Z5U6; -.
DR TreeFam; TF331160; -.
DR PathwayCommons; Q7Z5U6; -.
DR SignaLink; Q7Z5U6; -.
DR BioGRID-ORCS; 348793; 19 hits in 1083 CRISPR screens.
DR ChiTaRS; WDR53; human.
DR GenomeRNAi; 348793; -.
DR Pharos; Q7Z5U6; Tdark.
DR PRO; PR:Q7Z5U6; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q7Z5U6; protein.
DR Bgee; ENSG00000185798; Expressed in left testis and 172 other tissues.
DR ExpressionAtlas; Q7Z5U6; baseline and differential.
DR Genevisible; Q7Z5U6; HS.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR024977; Apc4_WD40_dom.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR InterPro; IPR042453; WDR53.
DR PANTHER; PTHR44666; PTHR44666; 1.
DR Pfam; PF12894; ANAPC4_WD40; 1.
DR Pfam; PF00400; WD40; 1.
DR SMART; SM00320; WD40; 6.
DR SUPFAM; SSF50978; SSF50978; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 2.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 2: Evidence at transcript level;
KW Reference proteome; Repeat; WD repeat.
FT CHAIN 1..358
FT /note="WD repeat-containing protein 53"
FT /id="PRO_0000051413"
FT REPEAT 1..38
FT /note="WD 1"
FT REPEAT 43..80
FT /note="WD 2"
FT REPEAT 85..123
FT /note="WD 3"
FT REPEAT 127..166
FT /note="WD 4"
FT REPEAT 173..225
FT /note="WD 5"
FT REPEAT 232..270
FT /note="WD 6"
FT REPEAT 314..355
FT /note="WD 7"
FT REGION 273..311
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 295..309
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 60
FT /note="S -> C (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035890"
FT VARIANT 338
FT /note="H -> P (in dbSNP:rs1048032)"
FT /id="VAR_033810"
SQ SEQUENCE 358 AA; 38989 MW; 3C9BDF46488FF111 CRC64;
MAVKWTGGHS SPVLCLNASK EGLLASGAEG GDLTAWGEDG TPLGHTRFQG ADDVTSVLFS
PSCPTKLYAS HGETISVLDV RSLKDSLDHF HVNEEEINCL SLNQTENLLA SADDSGAIKI
LDLENKKVIR SLKRHSNICS SVAFRPQRPQ SLVSCGLDMQ VMLWSLQKAR PLWITNLQED
ETEEMEGPQS PGQLLNPALA HSISVASCGN IFSCGAEDGK VRIFRVMGVK CEQELGFKGH
TSGVSQVCFL PESYLLLTGG NDGKITLWDA NSEVEKKQKS PTKRTHRKKP KRGTCTKQGG
NTNASVTDEE EHGNILPKLN IEHGEKVNWL LGTKIKGHQN ILVADQTSCI SVYPLNEF
