CFA74_HUMAN
ID CFA74_HUMAN Reviewed; 1584 AA.
AC Q9C0B2; A4VCI2; H7C4E1; Q5T2D9; Q5T2E0; Q69YW0; Q6ZSJ4;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 04-FEB-2015, sequence version 3.
DT 03-AUG-2022, entry version 120.
DE RecName: Full=Cilia- and flagella-associated protein 74 {ECO:0000305};
GN Name=CFAP74 {ECO:0000312|HGNC:HGNC:29368};
GN Synonyms=C1orf222 {ECO:0000312|HGNC:HGNC:29368},
GN KIAA1751 {ECO:0000312|EMBL:BAB21842.1};
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 3).
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 59-725 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=11214970; DOI=10.1093/dnares/7.6.347;
RA Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:347-355(2000).
RN [5]
RP PARTIAL NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
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., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- FUNCTION: As part of the central apparatus of the cilium axoneme may
CC play a role in cilium movement. {ECO:0000250|UniProtKB:D4P3R7}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:D4P3R7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9C0B2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9C0B2-2; Sequence=VSP_057369, VSP_057370;
CC Name=3;
CC IsoId=Q9C0B2-3; Sequence=VSP_032345;
CC -!- SIMILARITY: Belongs to the CFAP74 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI14927.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
CC Sequence=BAB21842.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
CC Sequence=CAH10703.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
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DR EMBL; AK127388; BAC86954.1; -; mRNA.
DR EMBL; AL391845; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL109917; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC114926; AAI14927.1; ALT_SEQ; mRNA.
DR EMBL; BC139754; AAI39755.1; -; mRNA.
DR EMBL; AB051538; BAB21842.1; ALT_SEQ; mRNA.
DR EMBL; AL137547; CAH10703.1; ALT_SEQ; mRNA.
DR RefSeq; NP_001291289.1; NM_001304360.1.
DR AlphaFoldDB; Q9C0B2; -.
DR BioGRID; 124537; 8.
DR IntAct; Q9C0B2; 7.
DR STRING; 9606.ENSP00000417061; -.
DR GlyGen; Q9C0B2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9C0B2; -.
DR PhosphoSitePlus; Q9C0B2; -.
DR BioMuta; CFAP74; -.
DR DMDM; 172046227; -.
DR EPD; Q9C0B2; -.
DR jPOST; Q9C0B2; -.
DR MassIVE; Q9C0B2; -.
DR PaxDb; Q9C0B2; -.
DR PeptideAtlas; Q9C0B2; -.
DR PRIDE; Q9C0B2; -.
DR ProteomicsDB; 45643; -.
DR ProteomicsDB; 66171; -.
DR ProteomicsDB; 79986; -. [Q9C0B2-1]
DR ProteomicsDB; 79987; -. [Q9C0B2-2]
DR ProteomicsDB; 79988; -. [Q9C0B2-3]
DR TopDownProteomics; Q9C0B2-2; -. [Q9C0B2-2]
DR Antibodypedia; 26630; 36 antibodies from 11 providers.
DR DNASU; 85452; -.
DR Ensembl; ENST00000493964.5; ENSP00000417061.2; ENSG00000142609.20. [Q9C0B2-1]
DR GeneID; 85452; -.
DR KEGG; hsa:85452; -.
DR UCSC; uc057bjv.1; human.
DR CTD; 85452; -.
DR DisGeNET; 85452; -.
DR GeneCards; CFAP74; -.
DR HGNC; HGNC:29368; CFAP74.
DR HPA; ENSG00000142609; Tissue enhanced (fallopian tube, testis).
DR neXtProt; NX_Q9C0B2; -.
DR OpenTargets; ENSG00000142609; -.
DR PharmGKB; PA142671598; -.
DR VEuPathDB; HostDB:ENSG00000142609; -.
DR eggNOG; ENOG502QPUP; Eukaryota.
DR GeneTree; ENSGT00900000141054; -.
DR HOGENOM; CLU_243984_0_0_1; -.
DR InParanoid; Q9C0B2; -.
DR OMA; QARFKVM; -.
DR OrthoDB; 1032303at2759; -.
DR TreeFam; TF343713; -.
DR PathwayCommons; Q9C0B2; -.
DR SignaLink; Q9C0B2; -.
DR BioGRID-ORCS; 85452; 4 hits in 194 CRISPR screens.
DR ChiTaRS; CFAP74; human.
DR GenomeRNAi; 85452; -.
DR Pharos; Q9C0B2; Tdark.
DR PRO; PR:Q9C0B2; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q9C0B2; protein.
DR Bgee; ENSG00000142609; Expressed in right uterine tube and 114 other tissues.
DR ExpressionAtlas; Q9C0B2; baseline and differential.
DR Genevisible; Q9C0B2; HS.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0035082; P:axoneme assembly; ISS:UniProtKB.
DR Gene3D; 2.60.40.10; -; 5.
DR InterPro; IPR013783; Ig-like_fold.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium; Coiled coil; Cytoplasm;
KW Cytoskeleton; Reference proteome.
FT CHAIN 1..1584
FT /note="Cilia- and flagella-associated protein 74"
FT /evidence="ECO:0000305"
FT /id="PRO_0000324664"
FT REGION 692..739
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 300..379
FT /evidence="ECO:0000255"
FT COMPBIAS 704..727
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 168..1584
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_032345"
FT VAR_SEQ 726..851
FT /note="EPERLTTVIPPSEEQTEITLGEVTEGEIGPFSSIKVPIVFTPVVPGDVQARF
FT KVTFKNPQCPTLHFRVVGVAIDVPVWVPKPSVDLKICMYDRLYQDSVLVHTRSKAALRL
FT KFEVCKELRAHLELL -> VLFLEWTKMYIHVDANRRLEGTSSIGPAGPARAEPHRAGK
FT RLCGAPWRGRAAGGFCLALQLWLLLDAHQRGEVPRNGRALPSPCLLPCSPPPSGIACVS
FT SLLLLIVFPHTHRDPETSVLLLSVFAW (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_057369"
FT VAR_SEQ 852..1584
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_057370"
FT VARIANT 50
FT /note="S -> I (in dbSNP:rs13303083)"
FT /id="VAR_039873"
FT VARIANT 363
FT /note="I -> V (in dbSNP:rs16824588)"
FT /id="VAR_039874"
FT VARIANT 628
FT /note="G -> C (in dbSNP:rs3820011)"
FT /id="VAR_039875"
FT CONFLICT 18
FT /note="L -> F (in Ref. 1; BAC86954)"
FT /evidence="ECO:0000305"
FT CONFLICT 207
FT /note="C -> R (in Ref. 3; AAI39755)"
FT /evidence="ECO:0000305"
FT CONFLICT 335
FT /note="L -> F (in Ref. 3; AAI39755)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1584 AA; 178589 MW; 0B11F64C8AFE2C28 CRC64;
MEDDGSLLPE DELLADALLL EDERDELEDP EFDIKCLLQE AEDDVDPGHS SSVKELDTDA
DKLKKKTAED RTQAFHLRQN LSALDKMHEE QELFTEKMRG ELRACRQRRD LIDKQQEAVA
AEIATEEEAG NMAAVGRLQA VSRRLFAELE NERDLQSRTE AVLKESENTM WHIEIQEGRL
EAFRTADREE VEATGRRLQV RAAEQLCREQ EALGKVERNR LLRIRKSLNT QKELGLRHQK
LLEDARKNHK VAVRFLKASL GRIREQEKKE EMECHEYMRR RMDAVVALKG SISANRDTLR
KFQAWDRAKA ELAEQRVQAE KKAILAQGRD AFRHLVHQRR RQELEAQKRA FEEEQKLRKQ
EIISRILKEE AEEEKRKKQH PPTSARHRLT LRDKTWNYIS DFCKKTTVPT NTYTLDYEAA
AGPGPSRLLE VVSSELIQGD PGASSEEETL AEPEISGLWN EDYKPYQVPK EDVDRKPVGG
TKMDKDILER TVERLRSRVV HKQVVWGREF QGRPFNSKPE LLHFQDFDIG KVYKKKITLV
NTTYTINYCK LVGVEEHLRD FIHVDFDPPG PLSAGMSCEV LVTFKPMINK DLEGNISFLA
QTGEFSVPLK CSTKKCSLSL DKELIDFGSY VVGETTSRTI TLTNVGGLGT TFKFLPASEP
CEMDDSQSAL KLSSLLTYED KSLYDKAATS FSEQQLEGTE SSQADMQSRK ELEKLDKEQE
EEQPAEPERL TTVIPPSEEQ TEITLGEVTE GEIGPFSSIK VPIVFTPVVP GDVQARFKVT
FKNPQCPTLH FRVVGVAIDV PVWVPKPSVD LKICMYDRLY QDSVLVHTRS KAALRLKFEV
CKELRAHLEL LPKTGYIQAQ SSYSVQLKFL PRHSLPEDAG RYFDKETRVL EAPMTIWVAD
QNKPVGFTVH AIVTTSDLEL SPSEVDFGYC TIYEAIRTEI SLHNHSLLPQ EFGFVRLPKF
VDVQPNDGFG TILPLETLQF CVIFQPTKAE EHRFQLTCKS EINRCFKLSC RAVGVHPPLE
LSHYQIKFAA TALYDTSVAT VYVINSHLSM SSPTHSKPRI GSEDASPMGP TSFEFLLPPD
SPITISPSVG TVWPGKRCLV QVAFRPVLPE KLIRQEALPL LNKEMETKSF RKNMAPQRKD
LHGLSFSVLR AQNRDKLFKV SVPHVLEMRK RELRPSSDEY QAARATLLRA FQAKFDTFVV
PCVVASGDIK DRKGSEPLSF SPHNTLYLEL WCPTVAPSVV VTSHKGKTIF NFGDVAVGHR
SIKKISIQNV SPEDLALDFS LLNPNGPFVL LNHSSLLRAG GTQVLVLSFS PHESILAQET
LDIITKRGTL TLTLMGTGVA SMITCSIEGS VLNMGYVIAG ESVSSGFKLQ NNSLLPIKFS
MHLDSLSSTR GRGQQQLPQF LSSPSQRTEV VGTQNLNGQS VFSVAPVKGV MDPGKTQDFT
VTFSPDHESL YFSDKLQVVL FEKKISHQIL LKGAACQHMM FVEGGDPLDV PVESLTAIPV
FDPRHREEAE ELRPILVTLD YIQFDTDTPA PPATRELQVG CIRTTQPSPK KPDHPLMVSA
LLQLRGDVKE TYKVIFVAQV LTGP
