CFA57_MOUSE
ID CFA57_MOUSE Reviewed; 1249 AA.
AC Q9D180; A2ACY9;
DT 02-SEP-2008, integrated into UniProtKB/Swiss-Prot.
DT 13-JUL-2010, sequence version 3.
DT 03-AUG-2022, entry version 118.
DE RecName: Full=Cilia- and flagella-associated protein 57 {ECO:0000312|MGI:MGI:2686209};
DE AltName: Full=WD repeat-containing protein 65 {ECO:0000303|PubMed:21574244};
GN Name=Cfap57 {ECO:0000312|MGI:MGI:2686209};
GN Synonyms=Wdr65 {ECO:0000303|PubMed:21574244};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1100-1249.
RC TISSUE=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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1102-1249.
RC STRAIN=C57BL/6J; TISSUE=Embryo;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [5]
RP TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=21574244; DOI=10.1002/ajmg.a.33980;
RA Rorick N.K., Kinoshita A., Weirather J.L., Peyrard-Janvid M., de Lima R.L.,
RA Dunnwald M., Shanske A.L., Moretti-Ferreira D., Koillinen H., Kere J.,
RA Mansilla M.A., Murray J.C., Goudy S.L., Schutte B.C.;
RT "Genomic strategy identifies a missense mutation in WD-repeat domain 65
RT (WDR65) in an individual with Van der Woude syndrome.";
RL Am. J. Med. Genet. A 155:1314-1321(2011).
CC -!- TISSUE SPECIFICITY: Predominanly expressed in testis, lung and skin.
CC Weak expression in brain and kidney. {ECO:0000269|PubMed:21574244}.
CC -!- DEVELOPMENTAL STAGE: Expression in the palate increases from 12.5 up to
CC 15.5 dpc. At 14.5, detected in the nasal epithelium and detected in the
CC medial edge epithelium. At 15.5 dpc, very strong expression in the
CC nasal respiratory epithelium and epidermis, but not in the oral
CC epithelium. In the nasal epithelium, limited to the respiratory, but
CC not the olfactory, epithelium. {ECO:0000269|PubMed:21574244}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH62805.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB23034.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AL669952; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX321881; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX842610; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC062805; AAH62805.1; ALT_INIT; mRNA.
DR EMBL; AK003848; BAB23034.1; ALT_INIT; mRNA.
DR CCDS; CCDS51286.1; -.
DR RefSeq; NP_081065.2; NM_026789.4.
DR RefSeq; XP_006503433.1; XM_006503370.2.
DR AlphaFoldDB; Q9D180; -.
DR SMR; Q9D180; -.
DR BioGRID; 212959; 3.
DR STRING; 10090.ENSMUSP00000071863; -.
DR iPTMnet; Q9D180; -.
DR PhosphoSitePlus; Q9D180; -.
DR MaxQB; Q9D180; -.
DR PaxDb; Q9D180; -.
DR PRIDE; Q9D180; -.
DR ProteomicsDB; 281540; -.
DR Antibodypedia; 34814; 21 antibodies from 10 providers.
DR DNASU; 68625; -.
DR Ensembl; ENSMUST00000071972; ENSMUSP00000071863; ENSMUSG00000028730.
DR Ensembl; ENSMUST00000081921; ENSMUSP00000080592; ENSMUSG00000028730.
DR GeneID; 68625; -.
DR KEGG; mmu:68625; -.
DR UCSC; uc012dkc.2; mouse.
DR CTD; 149465; -.
DR MGI; MGI:2686209; Cfap57.
DR VEuPathDB; HostDB:ENSMUSG00000028730; -.
DR eggNOG; ENOG502QTIS; Eukaryota.
DR GeneTree; ENSGT00620000088018; -.
DR HOGENOM; CLU_003598_0_0_1; -.
DR InParanoid; Q9D180; -.
DR OMA; ECLHAIC; -.
DR OrthoDB; 41953at2759; -.
DR PhylomeDB; Q9D180; -.
DR TreeFam; TF324236; -.
DR BioGRID-ORCS; 68625; 3 hits in 71 CRISPR screens.
DR ChiTaRS; Cfap57; mouse.
DR PRO; PR:Q9D180; -.
DR Proteomes; UP000000589; Chromosome 4.
DR RNAct; Q9D180; protein.
DR Bgee; ENSMUSG00000028730; Expressed in seminiferous tubule of testis and 47 other tissues.
DR Genevisible; Q9D180; MM.
DR Gene3D; 2.130.10.10; -; 2.
DR InterPro; IPR011047; Quinoprotein_ADH-like_supfam.
DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR InterPro; IPR001680; WD40_repeat.
DR InterPro; IPR036322; WD40_repeat_dom_sf.
DR Pfam; PF00400; WD40; 2.
DR SMART; SM00320; WD40; 7.
DR SUPFAM; SSF50978; SSF50978; 1.
DR SUPFAM; SSF50998; SSF50998; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 2.
DR PROSITE; PS50294; WD_REPEATS_REGION; 2.
PE 1: Evidence at protein level;
KW Coiled coil; Reference proteome; Repeat; WD repeat.
FT CHAIN 1..1249
FT /note="Cilia- and flagella-associated protein 57"
FT /evidence="ECO:0000305"
FT /id="PRO_0000346432"
FT REPEAT 105..148
FT /note="WD 1"
FT REPEAT 195..233
FT /note="WD 2"
FT REPEAT 335..374
FT /note="WD 3"
FT REPEAT 386..425
FT /note="WD 4"
FT REPEAT 427..469
FT /note="WD 5"
FT REPEAT 471..506
FT /note="WD 6"
FT REPEAT 509..548
FT /note="WD 7"
FT REPEAT 635..674
FT /note="WD 8"
FT COILED 690..1056
FT /evidence="ECO:0000255"
FT COILED 1094..1165
FT /evidence="ECO:0000255"
SQ SEQUENCE 1249 AA; 144934 MW; DA514C9B48A4E3DF CRC64;
MSTVVAQALH VFGLRPHVTN NVFFFDEQII IFPSGNHCVK YNIDQKWQKF IAGSDKSQGM
LALAISPNRR YLAISETVQE KPAVTIYELS SIPCRKRKVL NNFDFQVQKF TSMAFSPDSK
YLLTQTSPPD SNLVYWLWEK QKVMAIIKAD SQNNPIYQVS ISSQDNSQVC ITGSGVFKLL
RFAEGTLKQI NFQRGESSNY LAHAWVSEDR VIVGTDTGKL FLFESGDQRW ETSIMVKEST
SSRSLEVIQE SESLIEFPPL SSPVSSVERM DITTNTQQQA MPQVFAIAAY SKGFACSAGP
GRVLLFEKVE EKDFYRESRE IRIPTDQQSN DPSQSDKQDV LCLCFSPSEE TLIASTNKNQ
LYSITMSLTE ISKGEAAHFE YLLYPLHSAS ITGLDTCIRK PLIATCSLDR SVRIWNYESN
TLELYKEYQE EAYTVSLHPS GHYIVVGFAD KLRLMNLLID DIRPFKEYSV RGCKECSFSN
GGHLFAAVNG NVIHIFTTTS LENINILKGH TGKIRSLVWN LDDSKLVSAG TDGAVYEWNL
STGKRETECV LKSCSYNSVT TSPDAKVIFA VGSDQTLKEI SDSLILREIP AFDVIYTSIT
ISHSGRMIFV GTSVGTIRAM KYPLSLQKEY NEYQAHAGPV MKMLLTFDDQ FLLTVGEDGC
LFTWKVFDKD GRGIKREREV GFAEEVLVTK TDMEEKAQIM LELKTRVEEL KMENEYQLRL
KDMNYTEKIK ELTDKFIQEM ESLKTKNQVL KTEKEKQDIS HRERLEELVD KQTRELQDLE
CCNNQKLLLE YEKYQELQLK SQRMQEEYEK QLRDNDETKS QALEELTEFY EAKLQEKTGL
LEEAQEDVRQ QLREFEETKK QIEEDEDREI QDIKTKYERK LRDEKESNLR LKGETGIMRK
KFSSLQKEIE ERTNDIELLK SEQMKLQGII RSLEKDIQGL KREIQERDET IQDKEKRIYD
LKKKNQELEK FKFVLDYKIK ELKKQIEPRE NEIKVMKEQI QEMEAELERF HKQNTQLELN
ITELLQKLRA TDQEMRKEQQ KERDLEALVR RFKTDLHNCV AYIQEPGLLK EKIRGLFEKY
VQRADMVEIA GLNSDLQQEY ARQREHLERN LATLKKKVIK EGELHRTDYV RIMQENVSLI
KEINELRREL KLTRSQIYDL ESALKVSKKT RSQEVPESVI SKDVVGSTST MRLNEQEETG
RIIEMQRLEI RRLRDQIQEQ EQVPGFHTIA GVRLPSIVDS DVDFEVHTK
