WDR88_HUMAN
ID WDR88_HUMAN Reviewed; 472 AA.
AC Q6ZMY6; Q8NEF8;
DT 01-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 137.
DE RecName: Full=WD repeat-containing protein 88;
DE AltName: Full=PQQ repeat and WD repeat-containing protein;
GN Name=WDR88; Synonyms=PQWD;
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), AND VARIANT ARG-310.
RC TISSUE=Testis;
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 GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 [4]
RP VARIANT [LARGE SCALE ANALYSIS] HIS-166.
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 -!- INTERACTION:
CC Q6ZMY6-2; P01100: FOS; NbExp=3; IntAct=EBI-25857007, EBI-852851;
CC Q6ZMY6-2; P50440: GATM; NbExp=3; IntAct=EBI-25857007, EBI-2552594;
CC Q6ZMY6-2; Q00613: HSF1; NbExp=3; IntAct=EBI-25857007, EBI-719620;
CC Q6ZMY6-2; P14679-2: TYR; NbExp=3; IntAct=EBI-25857007, EBI-25894402;
CC Q6ZMY6-2; P31930: UQCRC1; NbExp=3; IntAct=EBI-25857007, EBI-1052596;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZMY6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZMY6-2; Sequence=VSP_024873;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH31227.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK131444; BAD18589.1; -; mRNA.
DR EMBL; AC008738; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC031227; AAH31227.2; ALT_INIT; mRNA.
DR CCDS; CCDS12429.1; -. [Q6ZMY6-1]
DR RefSeq; NP_775750.3; NM_173479.3. [Q6ZMY6-1]
DR AlphaFoldDB; Q6ZMY6; -.
DR SMR; Q6ZMY6; -.
DR BioGRID; 125970; 3.
DR IntAct; Q6ZMY6; 20.
DR STRING; 9606.ENSP00000348129; -.
DR iPTMnet; Q6ZMY6; -.
DR PhosphoSitePlus; Q6ZMY6; -.
DR BioMuta; WDR88; -.
DR DMDM; 296453028; -.
DR MassIVE; Q6ZMY6; -.
DR PaxDb; Q6ZMY6; -.
DR PeptideAtlas; Q6ZMY6; -.
DR PRIDE; Q6ZMY6; -.
DR ProteomicsDB; 67936; -. [Q6ZMY6-1]
DR ProteomicsDB; 67937; -. [Q6ZMY6-2]
DR Antibodypedia; 47947; 90 antibodies from 14 providers.
DR DNASU; 126248; -.
DR Ensembl; ENST00000355868.4; ENSP00000348129.2; ENSG00000166359.11. [Q6ZMY6-1]
DR Ensembl; ENST00000361680.6; ENSP00000355148.2; ENSG00000166359.11. [Q6ZMY6-2]
DR GeneID; 126248; -.
DR KEGG; hsa:126248; -.
DR MANE-Select; ENST00000355868.4; ENSP00000348129.2; NM_173479.4; NP_775750.3.
DR UCSC; uc002nui.4; human. [Q6ZMY6-1]
DR CTD; 126248; -.
DR DisGeNET; 126248; -.
DR GeneCards; WDR88; -.
DR HGNC; HGNC:26999; WDR88.
DR HPA; ENSG00000166359; Tissue enriched (testis).
DR neXtProt; NX_Q6ZMY6; -.
DR OpenTargets; ENSG00000166359; -.
DR PharmGKB; PA162409139; -.
DR VEuPathDB; HostDB:ENSG00000166359; -.
DR eggNOG; KOG0266; Eukaryota.
DR GeneTree; ENSGT00940000162291; -.
DR HOGENOM; CLU_000288_57_3_1; -.
DR InParanoid; Q6ZMY6; -.
DR OMA; KCVFCRM; -.
DR OrthoDB; 872177at2759; -.
DR PhylomeDB; Q6ZMY6; -.
DR TreeFam; TF300039; -.
DR PathwayCommons; Q6ZMY6; -.
DR SignaLink; Q6ZMY6; -.
DR BioGRID-ORCS; 126248; 35 hits in 1065 CRISPR screens.
DR ChiTaRS; WDR88; human.
DR GenomeRNAi; 126248; -.
DR Pharos; Q6ZMY6; Tdark.
DR PRO; PR:Q6ZMY6; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q6ZMY6; protein.
DR Bgee; ENSG00000166359; Expressed in sperm and 93 other tissues.
DR ExpressionAtlas; Q6ZMY6; baseline and differential.
DR Genevisible; Q6ZMY6; HS.
DR Gene3D; 2.130.10.10; -; 3.
DR InterPro; IPR020472; G-protein_beta_WD-40_rep.
DR InterPro; IPR018391; PQQ_beta_propeller_repeat.
DR InterPro; IPR002372; PQQ_repeat.
DR InterPro; IPR011047; Quinoprotein_ADH-like_supfam.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR019775; WD40_repeat_CS.
DR Pfam; PF01011; PQQ; 1.
DR Pfam; PF00400; WD40; 5.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00564; PQQ; 1.
DR SMART; SM00320; WD40; 7.
DR SUPFAM; SSF50998; SSF50998; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 5.
DR PROSITE; PS50082; WD_REPEATS_2; 6.
DR PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..472
FT /note="WD repeat-containing protein 88"
FT /id="PRO_0000285630"
FT REPEAT 100..139
FT /note="WD 1"
FT REPEAT 143..182
FT /note="WD 2"
FT REPEAT 184..224
FT /note="WD 3"
FT REPEAT 228..267
FT /note="WD 4"
FT REPEAT 271..310
FT /note="WD 5"
FT REPEAT 319..358
FT /note="WD 6"
FT REPEAT 361..400
FT /note="WD 7"
FT REGION 1..22
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 447..472
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 447..463
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 415..472
FT /note="CERCDRPFSIFKSDTSSEMFTQCVFCRIDTRGLPADTSSSSSSSERENSPPP
FT RGSKDD -> EKKEAYLKLKQG (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024873"
FT VARIANT 166
FT /note="D -> H (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035892"
FT VARIANT 310
FT /note="C -> R (in dbSNP:rs11881580)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_032030"
SQ SEQUENCE 472 AA; 52621 MW; B525CCC29477F730 CRC64;
MASPPRCSPT AHDRECKLPP PSAPASEYCP GKLSWGTMAR ALGRFKLSIP HTHLLATLDP
LALDREPPPH LLPEKHQVPE KLIWGDQDPL SKIPFKILSG HEHAVSTCHF CVDDTKLLSG
SYDCTVKLWD PVDGSVVRDF EHRPKAPVVE CSITGDSSRV IAASYDKTVR AWDLETGKLL
WKVRYDTFIV SCKFSPDGKY VVSGFDVDHG ICIMDAENIT TVSVIKDHHT RSITSCCFDP
DSQRVASVSL DRCIKIWDVT SQATLLTITK AHSNAISNCC FTFSGHFLCT SSWDKNLKIW
NVHTGEFRNC GACVTLMQGH EGSVSSCHFA RDSSFLISGG FDRTVAIWDV AEGYRKLSLK
GHNDWVMDVA ISNNKKWILS ASKDRTMRLW NIEEIDEIPL VIKYKKAVGL KLKQCERCDR
PFSIFKSDTS SEMFTQCVFC RIDTRGLPAD TSSSSSSSER ENSPPPRGSK DD