WDR17_HUMAN
ID WDR17_HUMAN Reviewed; 1322 AA.
AC Q8IZU2; E7EQX0; Q0QD35;
DT 24-MAY-2004, integrated into UniProtKB/Swiss-Prot.
DT 25-NOV-2008, sequence version 2.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=WD repeat-containing protein 17;
GN Name=WDR17;
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] (ISOFORM 1), AND VARIANT THR-1295.
RC TISSUE=Retina;
RX PubMed=12401215; DOI=10.1016/s0167-4781(02)00499-2;
RA Stohr H., Mohr N., Frohlich S., Mehdi S.Q., Bhattacharya S.S.,
RA Weber B.H.F.;
RT "Cloning and characterization of WDR17, a novel WD repeat-containing gene
RT on chromosome 4q34.";
RL Biochim. Biophys. Acta 1579:18-25(2002).
RN [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS THR-814;
RP SER-913 AND THR-1215.
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-20 (ISOFORM 2).
RC TISSUE=Retina;
RX PubMed=17286855; DOI=10.1186/1471-2164-8-42;
RA Roni V., Carpio R., Wissinger B.;
RT "Mapping of transcription start sites of human retina expressed genes.";
RL BMC Genomics 8:42-42(2007).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8IZU2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IZU2-2; Sequence=VSP_047201, VSP_047202;
CC -!- SEQUENCE CAUTION:
CC Sequence=BC146812; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AF492460; AAN64030.1; -; mRNA.
DR EMBL; AC093605; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC146812; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; DQ426895; ABD90546.1; -; mRNA.
DR EMBL; DQ426896; ABD90547.1; -; mRNA.
DR CCDS; CCDS3825.1; -. [Q8IZU2-1]
DR CCDS; CCDS43284.2; -. [Q8IZU2-2]
DR RefSeq; NP_733828.2; NM_170710.4. [Q8IZU2-1]
DR RefSeq; NP_851782.3; NM_181265.3. [Q8IZU2-2]
DR AlphaFoldDB; Q8IZU2; -.
DR SMR; Q8IZU2; -.
DR BioGRID; 125544; 3.
DR IntAct; Q8IZU2; 1.
DR STRING; 9606.ENSP00000280190; -.
DR iPTMnet; Q8IZU2; -.
DR PhosphoSitePlus; Q8IZU2; -.
DR BioMuta; WDR17; -.
DR DMDM; 215273912; -.
DR EPD; Q8IZU2; -.
DR jPOST; Q8IZU2; -.
DR MassIVE; Q8IZU2; -.
DR MaxQB; Q8IZU2; -.
DR PaxDb; Q8IZU2; -.
DR PeptideAtlas; Q8IZU2; -.
DR PRIDE; Q8IZU2; -.
DR ProteomicsDB; 17667; -.
DR ProteomicsDB; 71430; -. [Q8IZU2-1]
DR Antibodypedia; 51087; 12 antibodies from 6 providers.
DR DNASU; 116966; -.
DR Ensembl; ENST00000280190.8; ENSP00000280190.4; ENSG00000150627.16. [Q8IZU2-1]
DR Ensembl; ENST00000508596.6; ENSP00000422763.1; ENSG00000150627.16. [Q8IZU2-2]
DR GeneID; 116966; -.
DR KEGG; hsa:116966; -.
DR MANE-Select; ENST00000508596.6; ENSP00000422763.1; NM_181265.4; NP_851782.3. [Q8IZU2-2]
DR UCSC; uc003iuj.4; human. [Q8IZU2-1]
DR CTD; 116966; -.
DR DisGeNET; 116966; -.
DR GeneCards; WDR17; -.
DR HGNC; HGNC:16661; WDR17.
DR HPA; ENSG00000150627; Tissue enhanced (pituitary gland, retina).
DR MIM; 609005; gene.
DR neXtProt; NX_Q8IZU2; -.
DR OpenTargets; ENSG00000150627; -.
DR PharmGKB; PA38181; -.
DR VEuPathDB; HostDB:ENSG00000150627; -.
DR eggNOG; KOG0273; Eukaryota.
DR GeneTree; ENSGT00940000158602; -.
DR HOGENOM; CLU_004491_1_0_1; -.
DR InParanoid; Q8IZU2; -.
DR OMA; VYGLTSH; -.
DR OrthoDB; 167285at2759; -.
DR PhylomeDB; Q8IZU2; -.
DR TreeFam; TF323190; -.
DR PathwayCommons; Q8IZU2; -.
DR SignaLink; Q8IZU2; -.
DR BioGRID-ORCS; 116966; 11 hits in 1065 CRISPR screens.
DR GenomeRNAi; 116966; -.
DR Pharos; Q8IZU2; Tdark.
DR PRO; PR:Q8IZU2; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q8IZU2; protein.
DR Bgee; ENSG00000150627; Expressed in endothelial cell and 131 other tissues.
DR ExpressionAtlas; Q8IZU2; baseline and differential.
DR Genevisible; Q8IZU2; HS.
DR Gene3D; 2.130.10.10; -; 4.
DR InterPro; IPR024977; Apc4_WD40_dom.
DR InterPro; IPR020472; G-protein_beta_WD-40_rep.
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 InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF12894; ANAPC4_WD40; 1.
DR Pfam; PF00400; WD40; 4.
DR PRINTS; PR00320; GPROTEINBRPT.
DR SMART; SM00320; WD40; 11.
DR SUPFAM; SSF50978; SSF50978; 1.
DR SUPFAM; SSF50998; SSF50998; 1.
DR PROSITE; PS00678; WD_REPEATS_1; 2.
DR PROSITE; PS50082; WD_REPEATS_2; 5.
DR PROSITE; PS50294; WD_REPEATS_REGION; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..1322
FT /note="WD repeat-containing protein 17"
FT /id="PRO_0000051364"
FT REPEAT 81..121
FT /note="WD 1"
FT REPEAT 123..164
FT /note="WD 2"
FT REPEAT 171..211
FT /note="WD 3"
FT REPEAT 221..261
FT /note="WD 4"
FT REPEAT 266..307
FT /note="WD 5"
FT REPEAT 391..431
FT /note="WD 6"
FT REPEAT 434..474
FT /note="WD 7"
FT REPEAT 478..518
FT /note="WD 8"
FT REPEAT 519..559
FT /note="WD 9"
FT REPEAT 564..604
FT /note="WD 10"
FT REPEAT 607..647
FT /note="WD 11"
FT REPEAT 650..690
FT /note="WD 12"
FT REGION 328..352
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..24
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17286855"
FT /id="VSP_047201"
FT VAR_SEQ 1021..1036
FT /note="CFPCVGYSVPFCYVNR -> W (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17286855"
FT /id="VSP_047202"
FT VARIANT 418
FT /note="I -> V (in dbSNP:rs59567138)"
FT /id="VAR_062101"
FT VARIANT 814
FT /note="A -> T (in dbSNP:rs4690661)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_047399"
FT VARIANT 913
FT /note="C -> S (in dbSNP:rs7693453)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_047400"
FT VARIANT 952
FT /note="E -> K (in dbSNP:rs6810394)"
FT /id="VAR_047401"
FT VARIANT 1215
FT /note="A -> T (in dbSNP:rs17625943)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_047402"
FT VARIANT 1295
FT /note="A -> T (in dbSNP:rs11736872)"
FT /evidence="ECO:0000269|PubMed:12401215"
FT /id="VAR_047403"
FT CONFLICT 213
FT /note="R -> S (in Ref. 3; BC146812)"
FT /evidence="ECO:0000305"
FT CONFLICT 783
FT /note="H -> Q (in Ref. 3; BC146812)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1322 AA; 147703 MW; 99FFCE51B9EA8175 CRC64;
MAWMTYISNW FEQDDWYEGL QRANMSQVRQ VGLLAAGCQP WNKDVCAASG DRFAYCATLA
IYIYQLDHRY NEFKLHAIMS EHKKTITAIS WCPHNPDLFA SGSTDNLVII WNVAEQKVIA
KLDSTKGIPA SLSWCWNAED VVAFVSHRGP LFIWTISGPD SGVIVHKDAH SFLSDICMFR
WHTHQKGKVV FGHIDGSLSI FHPGNKNQKH VLRPESLEGT DEEDPVTALE WDPLSTDYLL
VVNLHYGIRL VDSESLSCIT TFNLPSAAAS VQCLAWVPSA PGMFITGDSQ VGVLRIWNVS
RTTPIDNLKL KKTGFHCLHV LNSPPRKKFS VQSPTKNHYT SSTSEAVPPP TLTQNQAFSL
PPGHAVCCFL DGGVGLYDMG AKKWDFLRDL GHVETIFDCK FKPDDPNLLA TASFDGTIKV
WDINTLTAVY TSPGNEGVIY SLSWAPGGLN CIAGGTSRNG AFIWNVQKGK IIQRFNEHGT
NGIFCIAWSH KDSKRIATCS SDGFCIIRTI DGKVLHKYKH PAAVFGCDWS QNNKDMIATG
CEDTNVRVYY VATSSDQPLK VFSGHTAKVF HVKWSPLREG ILCSGSDDGT VRIWDYTQDA
CINILNGHTA PVRGLMWNTE IPYLLISGSW DYTIKVWDTR EGTCVDTVYD HGADVYGLTC
HPSRPFTMAS CSRDSTVRLW SLTALVTPVQ INILADRSWE EIIGNTDYAI EPGTPPLLCG
KVSRDIRQEI EKLTANSQVK KLRWFSECLS PPGGSDNLWN LVAVIKGQDD SLLPQNYCKG
IMHLKHLIKF RTSEAQELTT VKMSKFGGGI GVPAKEERLK EAAEIHLRLG QIQRYCELMV
ELGEWDKALS IAPGVSVKYW KKLMQRRADQ LIQEDKDDVI PYCIAIGDVK KLVHFFMSRG
QLKEALLVAQ AACEGNMQPL HVSVPKGASY SDDIYKEDFN ELLHKVSKEL AEWYFQDGRA
VLAACCHLAI DNIELAMAYL IRGNELELAV CVGTVLGESA APATHYALEL LARKCMMISV
CFPCVGYSVP FCYVNRNLAA DLLLMIPDNE LHLIKLCAFY PGCTEEINDL HDKCKLPTVE
ECMQLAETAR ADDNIFETVK YYLLSQEPEK ALPIGISFVK EYISSSDWTL DTIYPVLDLL
SYIRTEKLLL HTCTEARNEL LILCGYIGAL LAIRRQYQSI VPALYEYTSQ LLKRREVSVP
LKIEYLSEEL DAWRACTQST NRSLEDSPYT PPSDSQRMIY ATLLKRLKEE SLKGIIGPDY
VTGSNLPSHS DIHISCLTGL KIQGPVFFLE DGKSAISLND ALMWAKVNPF SPLGTGIRLN
PF
