Entry euk:CF251_HUMAN

ID   CF251_HUMAN             Reviewed;        1149 AA.
AC   Q8TBY9; C9J1W2; Q8IYA3; Q8N898; Q8NDE7;
DT   24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT   30-NOV-2010, sequence version 2.
DT   10-MAY-2017, entry version 133.
DE   RecName: Full=Cilia- and flagella-associated protein 251 {ECO:0000305};
DE            Short=CFAP251 {ECO:0000305};
DE   AltName: Full=WD repeat-containing protein 66 {ECO:0000305};
GN   Name=WDR66 {ECO:0000312|HGNC:HGNC:28506};
GN   Synonyms=CFAP251 {ECO:0000305};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16541075; DOI=10.1038/nature04569;
RA   Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA   Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA   Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M.,
RA   Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA   Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B.,
RA   Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D.,
RA   Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z.,
RA   Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA   Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H.,
RA   Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H.,
RA   Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V.,
RA   Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J.,
RA   Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A.,
RA   Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M.,
RA   Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E.,
RA   Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA   Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA   Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M.,
RA   Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R.,
RA   Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J.,
RA   Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C.,
RA   Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M.,
RA   Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M.,
RA   Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P.,
RA   Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L.,
RA   Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E.,
RA   Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C.,
RA   Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F.,
RA   Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M.,
RA   Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S.,
RA   Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA   Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA   Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA   Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA   Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA   Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D.,
RA   Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I.,
RA   Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T.,
RA   Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S.,
RA   Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D.,
RA   Kucherlapati R., Weinstock G., Gibbs R.A.;
RT   "The finished DNA sequence of human chromosome 12.";
RL   Nature 440:346-351(2006).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 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
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 35-1149 (ISOFORM 3).
RC   TISSUE=Spleen;
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.,
RA   Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA   Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA   Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA   Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA   Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA   Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA   Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA   Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA   Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA   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.,
RA   Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA   Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA   Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA   Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA   Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA   Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA   Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA   Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA   Nakai K., Yada T., Nakamura Y., Ohara O., 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   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 186-1149 (ISOFORM 1).
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.,
RA   Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA   Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT   "The full-ORF clone resource of the German cDNA consortium.";
RL   BMC Genomics 8:399-399(2007).
CC   -!- FUNCTION: May regulate cilium motility through its role in the
CC       assembly of the axonemal radial spokes.
CC       {ECO:0000250|UniProtKB:A8IRK7, ECO:0000250|UniProtKB:Q24DE2}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC       {ECO:0000250|UniProtKB:A8IRK7}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q8TBY9-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8TBY9-2; Sequence=VSP_027167, VSP_027168;
CC         Note=No experimental confirmation available.;
CC       Name=3;
CC         IsoId=Q8TBY9-3; Sequence=VSP_027165, VSP_027166;
CC         Note=No experimental confirmation available.;
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DR   EMBL; AC069503; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC028421; AAH28421.1; -; mRNA.
DR   EMBL; BC036233; AAH36233.1; -; mRNA.
DR   EMBL; AK097102; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; AL833930; CAD38786.1; -; mRNA.
DR   CCDS; CCDS41853.1; -. [Q8TBY9-1]
DR   CCDS; CCDS53840.1; -. [Q8TBY9-2]
DR   RefSeq; NP_001171474.1; NM_001178003.1. [Q8TBY9-2]
DR   RefSeq; NP_653269.3; NM_144668.5. [Q8TBY9-1]
DR   UniGene; Hs.709837; -.
DR   ProteinModelPortal; Q8TBY9; -.
DR   BioGrid; 126850; 2.
DR   IntAct; Q8TBY9; 1.
DR   STRING; 9606.ENSP00000288912; -.
DR   iPTMnet; Q8TBY9; -.
DR   PhosphoSitePlus; Q8TBY9; -.
DR   BioMuta; WDR66; -.
DR   DMDM; 313104048; -.
DR   PaxDb; Q8TBY9; -.
DR   PeptideAtlas; Q8TBY9; -.
DR   PRIDE; Q8TBY9; -.
DR   Ensembl; ENST00000288912; ENSP00000288912; ENSG00000158023. [Q8TBY9-1]
DR   Ensembl; ENST00000397454; ENSP00000380595; ENSG00000158023. [Q8TBY9-2]
DR   GeneID; 144406; -.
DR   KEGG; hsa:144406; -.
DR   UCSC; uc009zxk.4; human. [Q8TBY9-1]
DR   CTD; 144406; -.
DR   DisGeNET; 144406; -.
DR   GeneCards; WDR66; -.
DR   HGNC; HGNC:28506; WDR66.
DR   HPA; HPA039902; -.
DR   HPA; HPA040005; -.
DR   neXtProt; NX_Q8TBY9; -.
DR   OpenTargets; ENSG00000158023; -.
DR   PharmGKB; PA142670599; -.
DR   eggNOG; ENOG410JR21; Eukaryota.
DR   eggNOG; ENOG410XQRH; LUCA.
DR   GeneTree; ENSGT00390000013370; -.
DR   HOGENOM; HOG000067979; -.
DR   HOVERGEN; HBG098232; -.
DR   InParanoid; Q8TBY9; -.
DR   OMA; MRALGFY; -.
DR   OrthoDB; EOG091G02BI; -.
DR   PhylomeDB; Q8TBY9; -.
DR   TreeFam; TF328993; -.
DR   SignaLink; Q8TBY9; -.
DR   GenomeRNAi; 144406; -.
DR   PRO; PR:Q8TBY9; -.
DR   Proteomes; UP000005640; Chromosome 12.
DR   Bgee; ENSG00000158023; -.
DR   CleanEx; HS_WDR66; -.
DR   Genevisible; Q8TBY9; HS.
DR   GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR   GO; GO:0031514; C:motile cilium; ISS:UniProtKB.
DR   GO; GO:0003341; P:cilium movement; ISS:UniProtKB.
DR   Gene3D; 2.130.10.10; -; 2.
DR   InterPro; IPR011992; EF-hand-dom_pair.
DR   InterPro; IPR011047; Quinoprotein_ADH-like_supfam.
DR   InterPro; IPR015943; WD40/YVTN_repeat-like_dom.
DR   InterPro; IPR001680; WD40_repeat.
DR   InterPro; IPR017986; WD40_repeat_dom.
DR   Pfam; PF00400; WD40; 1.
DR   SMART; SM00320; WD40; 9.
DR   SUPFAM; SSF47473; SSF47473; 1.
DR   SUPFAM; SSF50978; SSF50978; 1.
DR   SUPFAM; SSF50998; SSF50998; 3.
DR   PROSITE; PS50294; WD_REPEATS_REGION; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Cell projection; Complete proteome; Cytoplasm;
KW   Cytoskeleton; Polymorphism; Reference proteome; Repeat; WD repeat.
FT   CHAIN         1   1149       Cilia- and flagella-associated protein
FT                                251.
FT                                /FTId=PRO_0000296255.
FT   REPEAT      297    338       WD 1.
FT   REPEAT      344    385       WD 2.
FT   REPEAT      391    433       WD 3.
FT   REPEAT      444    483       WD 4.
FT   REPEAT      489    536       WD 5.
FT   REPEAT      604    643       WD 6.
FT   REPEAT      647    686       WD 7.
FT   REPEAT      691    730       WD 8.
FT   REPEAT      889    929       WD 9.
FT   COMPBIAS      6    102       Glu-rich.
FT   VAR_SEQ     297    370       GHANIISCLCVSEDRRWIATADKGPDCLVIIWDSFTGIPVH
FT                                TIFDSCPEGNGIMAMAMTHDAKYLATISDAEVQ -> VCRD
FT                                FLPTGGGVVFNVRVVFCFVSQGLTSFYHCRIFPLSLELKAS
FT                                LSLETHGIVYCLSVSNQNQLTKQQLILIL (in isoform
FT                                3). {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_027165.
FT   VAR_SEQ     371   1149       Missing (in isoform 3).
FT                                {ECO:0000303|PubMed:14702039}.
FT                                /FTId=VSP_027166.
FT   VAR_SEQ     925    941       VLEAAVSLGGEDLTPFY -> HPGSQAPILSPSDTSRS
FT                                (in isoform 2).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_027167.
FT   VAR_SEQ     942   1149       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_027168.
FT   VARIANT      61     61       E -> G (in dbSNP:rs12824001).
FT                                /FTId=VAR_034623.
FT   VARIANT      66     66       G -> E (in dbSNP:rs12824001).
FT                                /FTId=VAR_060044.
FT   VARIANT     383    383       T -> M (in dbSNP:rs34768683).
FT                                /FTId=VAR_034624.
FT   VARIANT     445    445       L -> F (in dbSNP:rs11043265).
FT                                /FTId=VAR_034625.
FT   CONFLICT     62     62       G -> GEEEEK (in Ref. 2; AAH28421/
FT                                AAH36233). {ECO:0000305}.
FT   CONFLICT    189    189       M -> I (in Ref. 3; AK097102).
FT                                {ECO:0000305}.
FT   CONFLICT    650    650       L -> F (in Ref. 2; AAH28421 and 4;
FT                                CAD38786). {ECO:0000305}.
FT   CONFLICT    810    810       F -> L (in Ref. 2; AAH36233).
FT                                {ECO:0000305}.
FT   CONFLICT    870    870       V -> L (in Ref. 2; AAH28421 and 4;
FT                                CAD38786). {ECO:0000305}.
CC   --------------------------------------------------------------------------
CC   The following FT lines are automated annotations from the MyHits database.
CC   --------------------------------------------------------------------------
FT   MYHIT       290    329       ipfam:WD40 [T]
FT   MYHIT       435    474       ismart:WD40 [T]
FT   MYHIT       602    730       iprf:WD_REPEATS_REGION [T]
FT   MYHIT       288    329       ismart:WD40 [T]
FT   MYHIT       730    773       ismart:WD40 [T]
FT   MYHIT       880    920       ismart:WD40 [T]
FT   MYHIT       332    376       ismart:WD40 [T]
FT   MYHIT       493    527       ismart:WD40 [T]
FT   MYHIT       595    634       ismart:WD40 [T]
FT   MYHIT       639    677       ismart:WD40 [T]
FT   MYHIT       682    721       ismart:WD40 [T]
SQ   SEQUENCE   1149 AA;  129952 MW;  CFC47771F6A71BB2 CRC64;
     MSDAAEAPRE ATGENGETEM KEEEEPNPNY KEVEDPQQES KDDTIAWRES QEEERKTGEE
     EGEEEGKEDK KIVMEETEEK AGEVQEKEAS GIQEETTVEP QEVTASMIRL ETQITDSQSI
     TSGIFPKTQR GSKSKLSLQL EDAETDELLR DLSTQIEFLD LDQISPEEQQ ISSPERQPSG
     ELEEKTDRMP QDELGQERRD LEPENREEGQ ERRVSDIQSK AGISRESLVS STTEDILFQK
     DKSTPVYPLT MTWSFGWNSS LPVYYIREER QRVLLYVCAH TAIIYNVFRN NQYHLQGHAN
     IISCLCVSED RRWIATADKG PDCLVIIWDS FTGIPVHTIF DSCPEGNGIM AMAMTHDAKY
     LATISDAEVQ KVCIWKWTLA VETPACTLEL PTEYGVQNYV TFNPTNNKEL VSNSKTRAIY
     YAWYEERDTL AHSAPLLTEK TFNKLVGKFS QSIFHLNLTQ ILSATMEGKL VVWDIHRPPS
     SASTFLGFPY IKPCKLVHLQ KEGITVLTTI DSYIVTGDIK GNIKFYDHTL SIVNWYSHLK
     LGAIRTLSFS KTPATPPTEK SNYPPDCTLK GDLFVLRNFI IGTSDAAVYH LTTDGTKLEK
     LFVEPKDAIC AISCHPYQPL IAIGSICGMI KVWNYENKQY LFSRVFEKGL GVQSLTYNPE
     GALLGAGFTE GTVYILDAMS LENESPEPFK YSRTSVTHIS FSHDSQYMAT ADRSFTVAVY
     MLVVRNGQRV WEYLARLRSH RKSIRSLLFG VYLDSNEPRL LSLGTDRLLI EYDLLRSYKD
     HLEVLDIHHT DQGCYPTCMV WYPPLTRELF LLICNSGYKV KLFNATTKMC RKTLLGPAYG
     SPIEQTQVLP VRSMAELQKR YLVFINRDKV GLQILPVDGN PHKTSAIVCH PNGVAGMAVS
     YDGCYAFTAG GHDRSVVQWK ITLSVLEAAV SLGGEDLTPF YGLLSGGREG KFYRELEDYF
     YYSQLRSQGI DTMETRKVSE HICLSELPFV MRAIGFYPSE EKIDDIFNEI KFGEYVDTGK
     LIDKINLPDF LKVYLNHKPP FGNTMSGIHK SFEVLGYTNS KGKKAIRRED FLRLLVTKGE
     HMTEEEMLDC FASLFGLNPE GWKSEPATCS VKGSEICLEE ELPDEITAEI FATEILGLTI
     SEDSGQDGQ
//