CFA57_HUMAN
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 03-AUG-2022, entry version 149.
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 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 AlphaFoldDB; Q96MR6; -.
DR BioGRID; 127214; 5.
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; Q96MR6; -.
DR PeptideAtlas; Q96MR6; -.
DR PRIDE; Q96MR6; -.
DR ProteomicsDB; 77387; -. [Q96MR6-1]
DR ProteomicsDB; 77388; -. [Q96MR6-2]
DR Antibodypedia; 34814; 21 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 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 PhylomeDB; Q96MR6; -.
DR TreeFam; TF324236; -.
DR PathwayCommons; Q96MR6; -.
DR SignaLink; Q96MR6; -.
DR BioGRID-ORCS; 149465; 13 hits in 1063 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 105 other tissues.
DR ExpressionAtlas; Q96MR6; baseline and differential.
DR Genevisible; Q96MR6; HS.
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 Pfam; PF00400; WD40; 2.
DR SMART; SM00320; WD40; 7.
DR SUPFAM; SSF50998; SSF50998; 1.
DR PROSITE; PS50082; WD_REPEATS_2; 3.
DR PROSITE; PS50294; WD_REPEATS_REGION; 2.
PE 2: Evidence at transcript level;
KW Alternative splicing; Coiled coil; Reference proteome; 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 (rare variant found in a patient with Van der
FT Woude syndrome; unknown pathological significance;
FT 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
