CFA70_HUMAN
ID CFA70_HUMAN Reviewed; 1121 AA.
AC Q5T0N1; C9JIZ9; Q5T0M4; Q5T0M9; Q5T0N0; Q69YH9; Q8IYZ8; Q8N7D5; Q8NI30;
AC Q8NI31;
DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot.
DT 14-MAY-2014, sequence version 3.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Cilia- and flagella-associated protein 70 {ECO:0000312|HGNC:HGNC:30726};
DE AltName: Full=Tetratricopeptide repeat protein 18 {ECO:0000305};
DE Short=TPR repeat protein 18 {ECO:0000305};
GN Name=CFAP70 {ECO:0000312|HGNC:HGNC:30726};
GN Synonyms=TTC18 {ECO:0000312|HGNC:HGNC:30726};
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).
RC TISSUE=Cervix;
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 594-1121 (ISOFORM 2).
RC TISSUE=Testis;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 4 AND 5).
RA Guo J.H., Yu L.;
RL Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP TISSUE SPECIFICITY, SUBCELLULAR LOCATION, AND VARIANT SPGF41 ILE-60.
RX PubMed=31621862; DOI=10.1093/humrep/dez166;
RA Beurois J., Martinez G., Cazin C., Kherraf Z.E., Amiri-Yekta A.,
RA Thierry-Mieg N., Bidart M., Petre G., Satre V., Brouillet S., Toure A.,
RA Arnoult C., Ray P.F., Coutton C.;
RT "CFAP70 mutations lead to male infertility due to severe astheno-
RT teratozoospermia. A case report.";
RL Hum. Reprod. 34:2071-2079(2019).
CC -!- FUNCTION: Axoneme-binding protein that plays a role in the regulation
CC of ciliary motility and cilium length. {ECO:0000250|UniProtKB:D3YVL2}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC {ECO:0000269|PubMed:31621862}. Cytoplasm, cytoskeleton, flagellum basal
CC body {ECO:0000269|PubMed:31621862}. Cell projection, cilium
CC {ECO:0000250|UniProtKB:D3YVL2}. Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:D3YVL2}. Note=Present all along the flagellum,
CC with a marked signal at the base of the flagellum.
CC {ECO:0000269|PubMed:31621862}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q5T0N1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5T0N1-2; Sequence=VSP_026291;
CC Name=3;
CC IsoId=Q5T0N1-3; Sequence=VSP_054462, VSP_026289;
CC Name=4;
CC IsoId=Q5T0N1-6; Sequence=VSP_054461, VSP_026291;
CC Name=5;
CC IsoId=Q5T0N1-7; Sequence=VSP_054461;
CC -!- TISSUE SPECIFICITY: Expressed in testis. {ECO:0000269|PubMed:31621862}.
CC -!- DOMAIN: The conserved TPR domains are dispensable for ciliary
CC targeting. The N-terminal half is important for cilary localization
CC and/or binding to the axoneme. {ECO:0000250|UniProtKB:D3YVL2}.
CC -!- DISEASE: Spermatogenic failure 41 (SPGF41) [MIM:618670]: An autosomal
CC recessive infertility disorder characterized by oligozoospermia, severe
CC asthenozoospermia and flagellar abnormalities such as short, absent,
CC coiled, and irregular-caliber flagella. Some sperm show tapered heads
CC and acrosomal abnormalities. {ECO:0000269|PubMed:31621862}. Note=The
CC disease may be caused by variants affecting the gene represented in
CC this entry.
CC -!- SIMILARITY: Belongs to the CFAP70 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAM20909.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAM20910.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAC05358.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AL833537; CAH10391.1; ALT_TERM; mRNA.
DR EMBL; AC016394; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL512656; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC032856; AAH32856.1; -; mRNA.
DR EMBL; AK098631; BAC05358.1; ALT_INIT; mRNA.
DR EMBL; AF435958; AAM20909.1; ALT_FRAME; mRNA.
DR EMBL; AF435959; AAM20910.1; ALT_FRAME; mRNA.
DR RefSeq; NP_660153.3; NM_145170.3.
DR RefSeq; XP_006717667.1; XM_006717604.2.
DR RefSeq; XP_006717668.1; XM_006717605.2.
DR AlphaFoldDB; Q5T0N1; -.
DR SMR; Q5T0N1; -.
DR BioGRID; 125614; 1.
DR STRING; 9606.ENSP00000310829; -.
DR iPTMnet; Q5T0N1; -.
DR PhosphoSitePlus; Q5T0N1; -.
DR BioMuta; CFAP70; -.
DR DMDM; 294862471; -.
DR EPD; Q5T0N1; -.
DR MassIVE; Q5T0N1; -.
DR PaxDb; Q5T0N1; -.
DR PeptideAtlas; Q5T0N1; -.
DR PRIDE; Q5T0N1; -.
DR ProteomicsDB; 64180; -. [Q5T0N1-1]
DR ProteomicsDB; 64181; -. [Q5T0N1-2]
DR ProteomicsDB; 64182; -. [Q5T0N1-3]
DR Antibodypedia; 29381; 18 antibodies from 8 providers.
DR DNASU; 118491; -.
DR Ensembl; ENST00000493787.6; ENSP00000510297.1; ENSG00000156042.19. [Q5T0N1-3]
DR GeneID; 118491; -.
DR UCSC; uc009xrc.4; human. [Q5T0N1-1]
DR CTD; 118491; -.
DR DisGeNET; 118491; -.
DR GeneCards; CFAP70; -.
DR HGNC; HGNC:30726; CFAP70.
DR HPA; ENSG00000156042; Tissue enhanced (choroid plexus, testis).
DR MalaCards; CFAP70; -.
DR MIM; 618661; gene.
DR MIM; 618670; phenotype.
DR neXtProt; NX_Q5T0N1; -.
DR OpenTargets; ENSG00000156042; -.
DR Orphanet; 276234; Non-syndromic male infertility due to sperm motility disorder.
DR PharmGKB; PA134881300; -.
DR VEuPathDB; HostDB:ENSG00000156042; -.
DR eggNOG; ENOG502QSJ2; Eukaryota.
DR GeneTree; ENSGT00390000013319; -.
DR HOGENOM; CLU_009208_0_0_1; -.
DR InParanoid; Q5T0N1; -.
DR OMA; MSDYHMQ; -.
DR OrthoDB; 260340at2759; -.
DR PhylomeDB; Q5T0N1; -.
DR TreeFam; TF324454; -.
DR PathwayCommons; Q5T0N1; -.
DR BioGRID-ORCS; 118491; 12 hits in 1036 CRISPR screens.
DR ChiTaRS; CFAP70; human.
DR GenomeRNAi; 118491; -.
DR Pharos; Q5T0N1; Tdark.
DR PRO; PR:Q5T0N1; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q5T0N1; protein.
DR Bgee; ENSG00000156042; Expressed in right uterine tube and 143 other tissues.
DR ExpressionAtlas; Q5T0N1; baseline and differential.
DR Genevisible; Q5T0N1; HS.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0031514; C:motile cilium; IBA:GO_Central.
DR GO; GO:0036157; C:outer dynein arm; IDA:UniProtKB.
DR GO; GO:0036126; C:sperm flagellum; IDA:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; ISS:UniProtKB.
DR GO; GO:0003341; P:cilium movement; ISS:UniProtKB.
DR Gene3D; 1.25.40.10; -; 3.
DR InterPro; IPR011990; TPR-like_helical_dom_sf.
DR InterPro; IPR019734; TPR_repeat.
DR Pfam; PF13181; TPR_8; 3.
DR SMART; SM00028; TPR; 9.
DR SUPFAM; SSF48452; SSF48452; 2.
DR PROSITE; PS50005; TPR; 7.
DR PROSITE; PS50293; TPR_REGION; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell projection; Cilium; Cytoplasm; Cytoskeleton;
KW Disease variant; Flagellum; Reference proteome; Repeat; TPR repeat.
FT CHAIN 1..1121
FT /note="Cilia- and flagella-associated protein 70"
FT /id="PRO_0000291913"
FT REPEAT 635..668
FT /note="TPR 1"
FT REPEAT 669..702
FT /note="TPR 2"
FT REPEAT 704..736
FT /note="TPR 3"
FT REPEAT 929..962
FT /note="TPR 4"
FT REPEAT 963..996
FT /note="TPR 5"
FT REPEAT 1000..1033
FT /note="TPR 6"
FT REPEAT 1035..1066
FT /note="TPR 7"
FT REPEAT 1068..1100
FT /note="TPR 8"
FT REGION 410..457
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 778..802
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 836..858
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 410..427
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 433..447
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..896
FT /note="Missing (in isoform 4 and isoform 5)"
FT /evidence="ECO:0000303|Ref.5"
FT /id="VSP_054461"
FT VAR_SEQ 117..119
FT /note="GQS -> VQS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_054462"
FT VAR_SEQ 120..1121
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_026289"
FT VAR_SEQ 1016..1045
FT /note="Missing (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039, ECO:0000303|Ref.5"
FT /id="VSP_026291"
FT VARIANT 60
FT /note="F -> I (in SPGF41; unknown pathological
FT significance)"
FT /evidence="ECO:0000269|PubMed:31621862"
FT /id="VAR_083155"
FT VARIANT 849
FT /note="W -> L (in dbSNP:rs12256262)"
FT /id="VAR_032877"
FT VARIANT 944
FT /note="N -> D (in dbSNP:rs4294502)"
FT /id="VAR_032878"
FT CONFLICT 79
FT /note="H -> Y (in Ref. 1; CAH10391)"
FT /evidence="ECO:0000305"
FT CONFLICT 511
FT /note="M -> V (in Ref. 3; AAH32856)"
FT /evidence="ECO:0000305"
FT CONFLICT 922
FT /note="C -> R (in Ref. 5; AAM20909/AAM20910)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1121 AA; 125721 MW; 480F4EAFFC149775 CRC64;
MEQVPSAGRL VQITVTEGYD LKGFKGDTPV TFIRAEFNQV VLGDSAKITV SPEGSAKYNF
TSSFEFNPEG GITSDDLAHK PVFLTVTEVL PKEKKQKEEK TLILGQAVVD LLPLLEGQSS
FQTTVPLHPV QGSPLETPRS SAKQCSLEVK VLVAEPLLTT AQISGGNLLK VTLEAAYSVP
ESFIPTGPGQ NYMVGLQVPS LGEKDYPILF KNGTLKLGGE REPVPRPKKW PIANILAPGA
NNIPDAFIVG GPYEEEEGEL NHPEDSEFRN QAECIKKRII WDLESRCYLD PSAVVSFQKR
IADCRLWPVE ITRVPLVTIP KGKAGKTEKT DEEAQLSFHG VAYVNMVPLL YPGVKRIRGA
FHVYPYLDSV VHEKTKCLLS LFRDIGHHLI HNNKIGGINS LLSKQAVSKN LKEDKPVKEK
DIDGRPRPGD VQAPSIKSQS SDTPLEGEPP LSHNPEGQQY VEAGTYIVLE IQLDKALVPK
RMPEELARRV KEMIPPRPPL TRRTGGAQKA MSDYHIQIKN ISRAILDEYY RMFGKQVAKL
ESDMDSETLE EQKCQLSYEL NCSGKYFAFK EQLKHAVVKI VRDKYLKTTS FESQEELQTF
ISELYVFLVD QMHVALNQTM PDDVQGTVAT IYTSSEQLQL FAFEAEVNEN FEMAAAYYKE
RLVREPQNLD HWLDYGAFCL LTEDNIKAQE CFQKALSLNQ SHIHSLLLCG VLAVLLENYE
QAEIFFEDAT CLEPTNVVAW TLLGLYYEIQ NNDIRMEMAF HEASKQLQAR MLQAQVTKQK
STGVEDTEER GKRESSLGPW GITNGSATAI KVEAPAGPGA ALSILDKFLE ESSKLQSDSQ
EPILTTQTWD PSISQKPSNT FIKEIPTKKE ASKCQDSSAL LHPGLHYGVS QTTTIFMETI
HFLMKVKAVQ YVHRVLAHEL LCPQGGPSCE YYLVLAQTHI LKKNFAKAEE YLQQAAQMDY
LNPNVWGLKG HLYFLSGNHS EAKACYERTI SFVVDASEMH FIFLRLGLIY LEEKEYEKAK
KTYMQACKRS PSCLTWLGLG IACYRLEELT EAEDALSEAN ALNNYNAEVW AYLALVCLKV
GRQLEAEQAY KYMIKLKLKD EALLAEIHTL QETVGFGNPS F
