ID   CFA57_HUMAN             Reviewed;        1250 AA.
AC   Q96MR6; A6NKQ3; Q17RI9; Q5TAI0;
DT   27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT   13-JUL-2010, sequence version 3.
DT   24-JAN-2024, entry version 157.
DE   RecName: Full=Cilia- and flagella-associated protein 57 {ECO:0000312|HGNC:HGNC:26485};
DE   AltName: Full=WD repeat-containing protein 65 {ECO:0000312|HGNC:HGNC:26485};
GN   Name=CFAP57 {ECO:0000312|HGNC:HGNC:26485};
GN   Synonyms=WDR65 {ECO:0000312|HGNC:HGNC:26485};
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 2).
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=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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   VARIANTS ASP-241 AND TYR-523.
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   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q96MR6-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q96MR6-2; Sequence=VSP_039520, VSP_039521;
CC   -!- INDUCTION: May be an IRF6-target.
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DR   EMBL; AK056562; BAB71217.1; -; mRNA.
DR   EMBL; AC093420; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL139138; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC117280; AAI17281.1; -; mRNA.
DR   EMBL; BC117306; AAI17307.1; -; mRNA.
DR   CCDS; CCDS479.1; -. [Q96MR6-2]
DR   CCDS; CCDS90934.1; -. [Q96MR6-1]
DR   RefSeq; NP_001161437.1; NM_001167965.1. [Q96MR6-2]
DR   RefSeq; NP_001182760.2; NM_001195831.2.
DR   RefSeq; NP_689711.2; NM_152498.3. [Q96MR6-2]
DR   RefSeq; XP_005270577.1; XM_005270520.1.
DR   RefSeq; XP_011539095.1; XM_011540793.1. [Q96MR6-1]
DR   RefSeq; XP_011539096.1; XM_011540794.1. [Q96MR6-1]
DR   RefSeq; XP_011539097.1; XM_011540795.2. [Q96MR6-1]
DR   PDB; 8J07; EM; 4.10 A; i4/i5=1-1250.
DR   PDBsum; 8J07; -.
DR   AlphaFoldDB; Q96MR6; -.
DR   EMDB; EMD-35888; -.
DR   SMR; Q96MR6; -.
DR   BioGRID; 127214; 8.
DR   IntAct; Q96MR6; 2.
DR   STRING; 9606.ENSP00000479773; -.
DR   iPTMnet; Q96MR6; -.
DR   PhosphoSitePlus; Q96MR6; -.
DR   BioMuta; CFAP57; -.
DR   DMDM; 300669699; -.
DR   EPD; Q96MR6; -.
DR   MassIVE; Q96MR6; -.
DR   MaxQB; Q96MR6; -.
DR   PaxDb; 9606-ENSP00000479773; -.
DR   PeptideAtlas; Q96MR6; -.
DR   ProteomicsDB; 77387; -. [Q96MR6-1]
DR   ProteomicsDB; 77388; -. [Q96MR6-2]
DR   Antibodypedia; 34814; 22 antibodies from 10 providers.
DR   DNASU; 149465; -.
DR   Ensembl; ENST00000372492.9; ENSP00000361570.4; ENSG00000243710.8. [Q96MR6-1]
DR   Ensembl; ENST00000528956.5; ENSP00000435310.1; ENSG00000243710.8. [Q96MR6-2]
DR   GeneID; 149465; -.
DR   KEGG; hsa:149465; -.
DR   MANE-Select; ENST00000372492.9; ENSP00000361570.4; NM_001378189.1; NP_001365118.1.
DR   UCSC; uc001cip.2; human. [Q96MR6-1]
DR   AGR; HGNC:26485; -.
DR   CTD; 149465; -.
DR   DisGeNET; 149465; -.
DR   GeneCards; CFAP57; -.
DR   HGNC; HGNC:26485; CFAP57.
DR   HPA; ENSG00000243710; Group enriched (choroid plexus, fallopian tube, testis).
DR   MIM; 614259; gene.
DR   neXtProt; NX_Q96MR6; -.
DR   OpenTargets; ENSG00000243710; -.
DR   PharmGKB; PA142670598; -.
DR   VEuPathDB; HostDB:ENSG00000243710; -.
DR   eggNOG; ENOG502QTIS; Eukaryota.
DR   GeneTree; ENSGT00620000088018; -.
DR   HOGENOM; CLU_003598_0_0_1; -.
DR   InParanoid; Q96MR6; -.
DR   OMA; ECLHAIC; -.
DR   OrthoDB; 5479453at2759; -.
DR   PhylomeDB; Q96MR6; -.
DR   TreeFam; TF324236; -.
DR   PathwayCommons; Q96MR6; -.
DR   SignaLink; Q96MR6; -.
DR   BioGRID-ORCS; 149465; 15 hits in 1142 CRISPR screens.
DR   ChiTaRS; CFAP57; human.
DR   GenomeRNAi; 149465; -.
DR   Pharos; Q96MR6; Tdark.
DR   PRO; PR:Q96MR6; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q96MR6; Protein.
DR   Bgee; ENSG00000243710; Expressed in right uterine tube and 107 other cell types or tissues.
DR   ExpressionAtlas; Q96MR6; baseline and differential.
DR   Gene3D; 1.10.287.1490; -; 1.
DR   Gene3D; 2.130.10.10; YVTN repeat-like/Quinoprotein amine dehydrogenase; 2.
DR   InterPro; IPR011047; Quinoprotein_ADH-like_supfam.
DR   InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf.
DR   InterPro; IPR001680; WD40_rpt.
DR   PANTHER; PTHR32215; CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 57; 1.
DR   PANTHER; PTHR32215:SF0; CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 57; 1.
DR   Pfam; PF00400; WD40; 3.
DR   SMART; SM00320; WD40; 7.
DR   SUPFAM; SSF50998; Quinoprotein alcohol dehydrogenase-like; 1.
DR   SUPFAM; SSF50960; TolB, C-terminal domain; 1.
DR   PROSITE; PS50082; WD_REPEATS_2; 3.
DR   PROSITE; PS50294; WD_REPEATS_REGION; 2.
DR   Genevisible; Q96MR6; HS.
PE   1: Evidence at protein level;
KW   3D-structure; Alternative splicing; Coiled coil; Reference proteome;
KW   Repeat; WD repeat.
FT   CHAIN           1..1250
FT                   /note="Cilia- and flagella-associated protein 57"
FT                   /evidence="ECO:0000305"
FT                   /id="PRO_0000242653"
FT   REPEAT          105..148
FT                   /note="WD 1"
FT   REPEAT          151..190
FT                   /note="WD 2"
FT   REPEAT          195..233
FT                   /note="WD 3"
FT   REPEAT          336..375
FT                   /note="WD 4"
FT   REPEAT          387..426
FT                   /note="WD 5"
FT   REPEAT          428..470
FT                   /note="WD 6"
FT   REPEAT          472..507
FT                   /note="WD 7"
FT   REPEAT          510..549
FT                   /note="WD 8"
FT   REPEAT          552..591
FT                   /note="WD 9"
FT   REPEAT          636..675
FT                   /note="WD 10"
FT   COILED          691..1057
FT                   /evidence="ECO:0000255"
FT   COILED          1095..1166
FT                   /evidence="ECO:0000255"
FT   COILED          1198..1225
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         644..698
FT                   /note="MLLTFDDQFLLTAAEDGCLFTWKVFDKDGRGIKREREVGFAEEVLVTKTDME
FT                   EKA -> VSRALSPGTQSHTCLLRALFIPSTSQCLFSLLLLSYLFIHHSLNHHLLTMNI
FT                   LFV (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039,
FT                   ECO:0000303|PubMed:15489334"
FT                   /id="VSP_039520"
FT   VAR_SEQ         699..1250
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:14702039,
FT                   ECO:0000303|PubMed:15489334"
FT                   /id="VSP_039521"
FT   VARIANT         183
FT                   /note="A -> S (in dbSNP:rs6663799)"
FT                   /id="VAR_026850"
FT   VARIANT         241
FT                   /note="N -> D (in dbSNP:rs663824)"
FT                   /evidence="ECO:0000269|PubMed:21574244"
FT                   /id="VAR_026851"
FT   VARIANT         345
FT                   /note="C -> S (in dbSNP:rs11210805)"
FT                   /id="VAR_026852"
FT   VARIANT         523
FT                   /note="D -> Y (found in a patient with Van der Woude
FT                   syndrome; uncertain significance; dbSNP:rs387907122)"
FT                   /evidence="ECO:0000269|PubMed:21574244"
FT                   /id="VAR_066494"
FT   CONFLICT        Q96MR6-2:647
FT                   /note="A -> T (in Ref. 1; BAB71217)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1250 AA;  144961 MW;  B98CB10A30D64E16 CRC64;
     MSAVVAQTLH VFGLRSHVAN NIFYFDEQII IFPSGNHCVK YNVDQKWQKF IPGSEKSQGM
     LALSISPNRR YLAISETVQE KPAITIYELS SIPCRKRKVL NNFDFQVQKF ISMAFSPDSK
     YLLAQTSPPE SNLVYWLWEK QKVMAIVRID TQNNPVYQVS FSPQDNTQVC VTGNGMFKLL
     RFAEGTLKQT SFQRGEPQNY LAHTWVADDK IVVGTDTGKL FLFESGDQRW ETSIMVKEPT
     NGSKSLDVIQ ESESLIEFPP VSSPLPSYEQ MVAASSHSQM SMPQVFAIAA YSKGFACSAG
     PGRVLLFEKM EEKDFYRESR EIRIPVDPQS NDPSQSDKQD VLCLCFSPSE ETLVASTSKN
     QLYSITMSLT EISKGEPAHF EYLMYPLHSA PITGLATCIR KPLIATCSLD RSIRLWNYET
     NTLELFKEYQ EEAYSISLHP SGHFIVVGFA DKLRLMNLLI DDIRSFKEYS VRGCGECSFS
     NGGHLFAAVN GNVIHVYTTT SLENISSLKG HTGKIRSIVW NADDSKLISG GTDGAVYEWN
     LSTGKRETEC VLKSCSYNCV TVSPDAKIIF AVGSDHTLKE IADSLILREI SAFDVTYTAI
     VISHSGRMMF VGTSVGTIRA MKYPLPLQKE FNEYQAHAGP ITKMLLTFDD QFLLTAAEDG
     CLFTWKVFDK DGRGIKRERE VGFAEEVLVT KTDMEEKAQV MLELKTRVEE LKMENEYQLR
     LKDMNYSEKI KELTDKFIQE MESLKTKNQV LRTEKEKQDV YHHEHIEDLL DKQSRELQDM
     ECCNNQKLLL EYEKYQELQL KSQRMQEEYE KQLRDNDETK SQALEELTEF YEAKLQEKTT
     LLEEAQEDVR QQLREFEETK KQIEEDEDRE IQDIKTKYEK KLRDEKESNL RLKGETGIMR
     KKFSSLQKEI EERTNDIETL KGEQMKLQGV IKSLEKDIQG LKREIQERDE TIQDKEKRIY
     DLKKKNQELG KFKFVLDYKI KELKKQIEPR ENEIRVMKEQ IQEMEAELEN FHKQNTQLEL
     NITELWQKLR ATDQEMRRER QKERDLEALV KRFKTDLHNC VAYIQEPRLL KEKVRGLFEK
     YVQRADMVEI AGLNTDLQQE YTRQREHLER NLATLKKKVV KEGELHRTDY VRIMQENVSL
     IKEINELRRE LKFTRSQVYD LEAALKLTKK VRPQEVSETE PSRDMLSTAP TARLNEQEET
     GRIIEMQRLE IQRLRDQIQE QEQVTGFHTL AGVRLPSLSN SEVDLEVKTN
//