CFA97_HUMAN
ID CFA97_HUMAN Reviewed; 532 AA.
AC Q9P2B7; B3KRP7; D3DP60; Q05CU1; Q4W5M4; Q8N6E7; Q9UF45;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 13-NOV-2007, sequence version 2.
DT 03-AUG-2022, entry version 124.
DE RecName: Full=Cilia- and flagella-associated protein 97 {ECO:0000312|HGNC:HGNC:29276};
GN Name=CFAP97 {ECO:0000312|HGNC:HGNC:29276};
GN Synonyms=KIAA1430 {ECO:0000312|HGNC:HGNC:29276};
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 1).
RC TISSUE=Liver;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP ALA-238.
RC TISSUE=Brain, and 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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 6-532 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVI. The
RT complete sequences of 150 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:65-73(2000).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 296-532 (ISOFORM 1).
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).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-133; SER-138 AND SER-139, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-218, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-218, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [11]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-218 AND SER-330, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9P2B7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9P2B7-2; Sequence=VSP_029098, VSP_029099;
CC -!- SIMILARITY: Belongs to the CFAP97 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH20772.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAH20772.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=AAY40976.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK091993; BAG52459.1; -; mRNA.
DR EMBL; AC073344; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093592; AAY40976.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH471056; EAX04653.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX04654.1; -; Genomic_DNA.
DR EMBL; BC020772; AAH20772.1; ALT_SEQ; mRNA.
DR EMBL; BC030535; AAH30535.1; -; mRNA.
DR EMBL; AB037851; BAA92668.1; -; mRNA.
DR EMBL; AL133615; CAB63743.1; -; mRNA.
DR CCDS; CCDS47168.1; -. [Q9P2B7-1]
DR CCDS; CCDS75216.1; -. [Q9P2B7-2]
DR PIR; T43472; T43472.
DR RefSeq; NP_001278962.1; NM_001292033.1. [Q9P2B7-2]
DR RefSeq; NP_065878.1; NM_020827.2. [Q9P2B7-1]
DR RefSeq; XP_016863972.1; XM_017008483.1. [Q9P2B7-1]
DR RefSeq; XP_016863973.1; XM_017008484.1. [Q9P2B7-1]
DR RefSeq; XP_016863974.1; XM_017008485.1.
DR RefSeq; XP_016863975.1; XM_017008486.1. [Q9P2B7-1]
DR AlphaFoldDB; Q9P2B7; -.
DR SMR; Q9P2B7; -.
DR BioGRID; 121639; 58.
DR IntAct; Q9P2B7; 43.
DR STRING; 9606.ENSP00000409964; -.
DR iPTMnet; Q9P2B7; -.
DR PhosphoSitePlus; Q9P2B7; -.
DR BioMuta; CFAP97; -.
DR DMDM; 160395564; -.
DR EPD; Q9P2B7; -.
DR jPOST; Q9P2B7; -.
DR MassIVE; Q9P2B7; -.
DR MaxQB; Q9P2B7; -.
DR PaxDb; Q9P2B7; -.
DR PeptideAtlas; Q9P2B7; -.
DR PRIDE; Q9P2B7; -.
DR ProteomicsDB; 83767; -. [Q9P2B7-1]
DR ProteomicsDB; 83768; -. [Q9P2B7-2]
DR Antibodypedia; 56002; 34 antibodies from 13 providers.
DR DNASU; 57587; -.
DR Ensembl; ENST00000458385.7; ENSP00000409964.2; ENSG00000164323.15. [Q9P2B7-1]
DR Ensembl; ENST00000514798.1; ENSP00000423312.1; ENSG00000164323.15. [Q9P2B7-2]
DR GeneID; 57587; -.
DR KEGG; hsa:57587; -.
DR MANE-Select; ENST00000458385.7; ENSP00000409964.2; NM_020827.3; NP_065878.1.
DR UCSC; uc003ixf.5; human. [Q9P2B7-1]
DR CTD; 57587; -.
DR DisGeNET; 57587; -.
DR GeneCards; CFAP97; -.
DR HGNC; HGNC:29276; CFAP97.
DR HPA; ENSG00000164323; Low tissue specificity.
DR MIM; 616047; gene.
DR neXtProt; NX_Q9P2B7; -.
DR OpenTargets; ENSG00000164323; -.
DR PharmGKB; PA134887257; -.
DR VEuPathDB; HostDB:ENSG00000164323; -.
DR eggNOG; ENOG502S0ZF; Eukaryota.
DR GeneTree; ENSGT00390000010356; -.
DR HOGENOM; CLU_040301_1_0_1; -.
DR InParanoid; Q9P2B7; -.
DR OMA; KRNACRN; -.
DR OrthoDB; 947267at2759; -.
DR PhylomeDB; Q9P2B7; -.
DR TreeFam; TF336369; -.
DR PathwayCommons; Q9P2B7; -.
DR SignaLink; Q9P2B7; -.
DR BioGRID-ORCS; 57587; 26 hits in 1083 CRISPR screens.
DR ChiTaRS; CFAP97; human.
DR GenomeRNAi; 57587; -.
DR Pharos; Q9P2B7; Tdark.
DR PRO; PR:Q9P2B7; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q9P2B7; protein.
DR Bgee; ENSG00000164323; Expressed in endothelial cell and 192 other tissues.
DR ExpressionAtlas; Q9P2B7; baseline and differential.
DR Genevisible; Q9P2B7; HS.
DR GO; GO:0007283; P:spermatogenesis; IBA:GO_Central.
DR InterPro; IPR038791; Cfap97/Hemingway.
DR InterPro; IPR029488; Hmw/CFAP97.
DR PANTHER; PTHR23035; PTHR23035; 1.
DR Pfam; PF13879; Hmw_CFAP97; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Phosphoprotein; Reference proteome.
FT CHAIN 1..532
FT /note="Cilia- and flagella-associated protein 97"
FT /evidence="ECO:0000305"
FT /id="PRO_0000309224"
FT REGION 28..83
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 116..263
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 306..333
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 398..421
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 485..532
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 374..450
FT /evidence="ECO:0000255"
FT COMPBIAS 28..49
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 50..66
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 167..213
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 228..242
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 306..321
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 485..510
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 19
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6ZPR1"
FT MOD_RES 133
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 138
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 139
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 218
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163"
FT MOD_RES 248
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q66H34"
FT MOD_RES 330
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 441..453
FT /note="ALLKRLEAVKPTV -> TISLCHPGWSAVT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029098"
FT VAR_SEQ 454..532
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029099"
FT VARIANT 238
FT /note="T -> A (in dbSNP:rs1133657)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_036915"
FT VARIANT 443
FT /note="L -> S (in dbSNP:rs6820332)"
FT /id="VAR_036916"
FT CONFLICT 512
FT /note="D -> T (in Ref. 4; AAH30535)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 532 AA; 59475 MW; 37E9A1ADFD718422 CRC64;
MDQFGDILEG EVDHSFFDSD FEEGKKCETN SVFDKQNDDP KERIDKDTKN VNSNTGMQTT
ENYLTEKGNE RNVKFPPEHP VENDVTQTVS SFSLPASSRS KKLCDVTTGL KIHVSIPNRI
PKIVKEGEDD YYTDGEESSD DGKKYHVKSK SAKPSTNVKK SIRKKYCKVS SSSSSSLSSS
SSGSGTDCLD AGSDSHLSDS SPSSKSSKKH VSGITLLSPK HKYKSGIKST ETQPSSTTPK
CGHYPEESED TVTDVSPLST PDISPLQSFE LGIANDQKVK IKKQENVSQE IYEDVEDLKN
NSKYLKAAKK GKEKHEPDVS SKSSSVLDSS LDHRHKQKVL HDTMDLNHLL KAFLQLDKKG
PQKHHFDQPS VAPGKNYSFT REEVRQIDRE NQRLLKELSR QAEKPGSKST IPRSADHPPK
LYHSALNRQK EQQRIERENL ALLKRLEAVK PTVGMKRSEQ LMDYHRNMGY LNSSPLSRRA
RSTLGQYSPL RASRTSSATS GLSCRSERSA VDPSSGHPRR RPKPPNVRTA WL
