CF206_HUMAN
ID CF206_HUMAN Reviewed; 622 AA.
AC Q8IYR0; A8K969; E1P507; Q8N9U4;
DT 29-AUG-2003, integrated into UniProtKB/Swiss-Prot.
DT 29-AUG-2003, sequence version 2.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Cilia- and flagella-associated protein 206 {ECO:0000305};
GN Name=CFAP206 {ECO:0000312|HGNC:HGNC:21405};
GN Synonyms=C6orf165 {ECO:0000312|HGNC:HGNC:21405};
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].
RC TISSUE=Testis, and Trachea;
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=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
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].
RC TISSUE=Brain;
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).
CC -!- FUNCTION: Essential for sperm motility and is involved in the
CC regulation of the beating frequency of motile cilia on the epithelial
CC cells of the respiratory tract (By similarity). Required for the
CC establishment of radial spokes in sperm flagella (By similarity).
CC {ECO:0000250|UniProtKB:Q6PE87}.
CC -!- INTERACTION:
CC Q8IYR0; Q6UY14-3: ADAMTSL4; NbExp=6; IntAct=EBI-749051, EBI-10173507;
CC Q8IYR0; Q3KP44: ANKRD55; NbExp=3; IntAct=EBI-749051, EBI-14493093;
CC Q8IYR0; Q96GX9: APIP; NbExp=3; IntAct=EBI-749051, EBI-359248;
CC Q8IYR0; Q8N5M1: ATPAF2; NbExp=3; IntAct=EBI-749051, EBI-1166928;
CC Q8IYR0; Q8N9N5: BANP; NbExp=3; IntAct=EBI-749051, EBI-744695;
CC Q8IYR0; Q8N9N5-2: BANP; NbExp=3; IntAct=EBI-749051, EBI-11524452;
CC Q8IYR0; Q9H2G9: BLZF1; NbExp=3; IntAct=EBI-749051, EBI-2548012;
CC Q8IYR0; Q6P1W5: C1orf94; NbExp=4; IntAct=EBI-749051, EBI-946029;
CC Q8IYR0; Q5TBE3-2: C9orf153; NbExp=3; IntAct=EBI-749051, EBI-12159293;
CC Q8IYR0; Q99626: CDX2; NbExp=3; IntAct=EBI-749051, EBI-10899513;
CC Q8IYR0; Q8IYX8-2: CEP57L1; NbExp=3; IntAct=EBI-749051, EBI-10181988;
CC Q8IYR0; P27918: CFP; NbExp=3; IntAct=EBI-749051, EBI-9038570;
CC Q8IYR0; Q8N684-3: CPSF7; NbExp=3; IntAct=EBI-749051, EBI-11523759;
CC Q8IYR0; O43186: CRX; NbExp=3; IntAct=EBI-749051, EBI-748171;
CC Q8IYR0; A8MQ03: CYSRT1; NbExp=3; IntAct=EBI-749051, EBI-3867333;
CC Q8IYR0; Q9NRI5-2: DISC1; NbExp=3; IntAct=EBI-749051, EBI-11988027;
CC Q8IYR0; Q9NRA8: EIF4ENIF1; NbExp=3; IntAct=EBI-749051, EBI-301024;
CC Q8IYR0; P14136: GFAP; NbExp=3; IntAct=EBI-749051, EBI-744302;
CC Q8IYR0; Q49A26: GLYR1; NbExp=3; IntAct=EBI-749051, EBI-2804292;
CC Q8IYR0; Q96D09: GPRASP2; NbExp=6; IntAct=EBI-749051, EBI-473189;
CC Q8IYR0; Q14687: GSE1; NbExp=3; IntAct=EBI-749051, EBI-372619;
CC Q8IYR0; Q8IYA8: IHO1; NbExp=3; IntAct=EBI-749051, EBI-8638439;
CC Q8IYR0; Q9UKT9: IKZF3; NbExp=3; IntAct=EBI-749051, EBI-747204;
CC Q8IYR0; Q86T90: KIAA1328; NbExp=3; IntAct=EBI-749051, EBI-3437878;
CC Q8IYR0; Q8N4I8: KLHL3; NbExp=3; IntAct=EBI-749051, EBI-10230467;
CC Q8IYR0; Q15323: KRT31; NbExp=3; IntAct=EBI-749051, EBI-948001;
CC Q8IYR0; O76011: KRT34; NbExp=3; IntAct=EBI-749051, EBI-1047093;
CC Q8IYR0; Q6A162: KRT40; NbExp=6; IntAct=EBI-749051, EBI-10171697;
CC Q8IYR0; O95678: KRT75; NbExp=3; IntAct=EBI-749051, EBI-2949715;
CC Q8IYR0; Q01546: KRT76; NbExp=3; IntAct=EBI-749051, EBI-2952745;
CC Q8IYR0; Q6PEX3: KRTAP26-1; NbExp=3; IntAct=EBI-749051, EBI-3957672;
CC Q8IYR0; Q9BRK4: LZTS2; NbExp=3; IntAct=EBI-749051, EBI-741037;
CC Q8IYR0; Q9Y5V3: MAGED1; NbExp=3; IntAct=EBI-749051, EBI-716006;
CC Q8IYR0; Q6FHY5: MEOX2; NbExp=3; IntAct=EBI-749051, EBI-16439278;
CC Q8IYR0; A9UHW6-2: MIF4GD; NbExp=3; IntAct=EBI-749051, EBI-9118295;
CC Q8IYR0; O00746: NME4; NbExp=3; IntAct=EBI-749051, EBI-744871;
CC Q8IYR0; Q8WWB5: PIH1D2; NbExp=3; IntAct=EBI-749051, EBI-10232538;
CC Q8IYR0; P25786: PSMA1; NbExp=3; IntAct=EBI-749051, EBI-359352;
CC Q8IYR0; P62195: PSMC5; NbExp=3; IntAct=EBI-749051, EBI-357745;
CC Q8IYR0; Q04864-2: REL; NbExp=3; IntAct=EBI-749051, EBI-10829018;
CC Q8IYR0; Q13464: ROCK1; NbExp=3; IntAct=EBI-749051, EBI-876651;
CC Q8IYR0; Q8N6K7: SAMD3; NbExp=3; IntAct=EBI-749051, EBI-748741;
CC Q8IYR0; Q8IYX7: SAXO1; NbExp=3; IntAct=EBI-749051, EBI-3957636;
CC Q8IYR0; O60504: SORBS3; NbExp=3; IntAct=EBI-749051, EBI-741237;
CC Q8IYR0; O94993: SOX30; NbExp=4; IntAct=EBI-749051, EBI-742973;
CC Q8IYR0; Q86TJ2-3: TADA2B; NbExp=3; IntAct=EBI-749051, EBI-18173581;
CC Q8IYR0; Q5VWN6: TASOR2; NbExp=3; IntAct=EBI-749051, EBI-745958;
CC Q8IYR0; Q99081: TCF12; NbExp=3; IntAct=EBI-749051, EBI-722877;
CC Q8IYR0; Q969V4: TEKT1; NbExp=3; IntAct=EBI-749051, EBI-10180409;
CC Q8IYR0; Q9UBB9: TFIP11; NbExp=4; IntAct=EBI-749051, EBI-1105213;
CC Q8IYR0; Q08117: TLE5; NbExp=3; IntAct=EBI-749051, EBI-717810;
CC Q8IYR0; P14373: TRIM27; NbExp=3; IntAct=EBI-749051, EBI-719493;
CC Q8IYR0; Q9BYV2: TRIM54; NbExp=3; IntAct=EBI-749051, EBI-2130429;
CC Q8IYR0; Q5T124: UBXN11; NbExp=4; IntAct=EBI-749051, EBI-746004;
CC Q8IYR0; Q5T124-6: UBXN11; NbExp=3; IntAct=EBI-749051, EBI-11524408;
CC Q8IYR0; Q8N6Y0: USHBP1; NbExp=3; IntAct=EBI-749051, EBI-739895;
CC Q8IYR0; Q8N1B4: VPS52; NbExp=3; IntAct=EBI-749051, EBI-2799833;
CC Q8IYR0; Q8NB15: ZNF511; NbExp=3; IntAct=EBI-749051, EBI-10269136;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000250|UniProtKB:Q6PE87}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000250|UniProtKB:Q6PE87}.
CC -!- SIMILARITY: Belongs to the CFAP206 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04234.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
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DR EMBL; AK093830; BAC04234.1; ALT_SEQ; mRNA.
DR EMBL; AK292584; BAF85273.1; -; mRNA.
DR EMBL; AL049697; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471051; EAW48594.1; -; Genomic_DNA.
DR EMBL; CH471051; EAW48596.1; -; Genomic_DNA.
DR EMBL; CH471051; EAW48598.1; -; Genomic_DNA.
DR EMBL; BC035083; AAH35083.2; -; mRNA.
DR CCDS; CCDS34498.1; -.
DR RefSeq; NP_001026913.1; NM_001031743.2.
DR AlphaFoldDB; Q8IYR0; -.
DR BioGRID; 127543; 66.
DR IntAct; Q8IYR0; 59.
DR MINT; Q8IYR0; -.
DR STRING; 9606.ENSP00000358575; -.
DR iPTMnet; Q8IYR0; -.
DR PhosphoSitePlus; Q8IYR0; -.
DR BioMuta; CFAP206; -.
DR DMDM; 34395551; -.
DR MassIVE; Q8IYR0; -.
DR PaxDb; Q8IYR0; -.
DR PeptideAtlas; Q8IYR0; -.
DR PRIDE; Q8IYR0; -.
DR ProteomicsDB; 71214; -.
DR Antibodypedia; 73997; 45 antibodies from 9 providers.
DR DNASU; 154313; -.
DR Ensembl; ENST00000369562.9; ENSP00000358575.4; ENSG00000272514.6.
DR GeneID; 154313; -.
DR KEGG; hsa:154313; -.
DR MANE-Select; ENST00000369562.9; ENSP00000358575.4; NM_001031743.3; NP_001026913.1.
DR UCSC; uc003plv.4; human.
DR CTD; 154313; -.
DR GeneCards; CFAP206; -.
DR HGNC; HGNC:21405; CFAP206.
DR HPA; ENSG00000272514; Group enriched (fallopian tube, testis).
DR neXtProt; NX_Q8IYR0; -.
DR OpenTargets; ENSG00000213204; -.
DR OpenTargets; ENSG00000272514; -.
DR PharmGKB; PA134983540; -.
DR VEuPathDB; HostDB:ENSG00000272514; -.
DR eggNOG; ENOG502QTGJ; Eukaryota.
DR GeneTree; ENSGT00390000016036; -.
DR HOGENOM; CLU_030061_0_0_1; -.
DR InParanoid; Q8IYR0; -.
DR OMA; LHDTVRY; -.
DR OrthoDB; 357137at2759; -.
DR PhylomeDB; Q8IYR0; -.
DR TreeFam; TF323439; -.
DR PathwayCommons; Q8IYR0; -.
DR SignaLink; Q8IYR0; -.
DR BioGRID-ORCS; 154313; 8 hits in 1034 CRISPR screens.
DR ChiTaRS; CFAP206; human.
DR GenomeRNAi; 154313; -.
DR Pharos; Q8IYR0; Tdark.
DR PRO; PR:Q8IYR0; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8IYR0; protein.
DR Bgee; ENSG00000272514; Expressed in right uterine tube and 73 other tissues.
DR ExpressionAtlas; Q8IYR0; baseline and differential.
DR Genevisible; Q8IYR0; HS.
DR GO; GO:0005930; C:axoneme; ISS:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB.
DR GO; GO:0031514; C:motile cilium; ISS:UniProtKB.
DR GO; GO:0001534; C:radial spoke; ISS:UniProtKB.
DR GO; GO:0035082; P:axoneme assembly; ISS:UniProtKB.
DR GO; GO:0003341; P:cilium movement; ISS:UniProtKB.
DR GO; GO:0003356; P:regulation of cilium beat frequency; ISS:UniProtKB.
DR GO; GO:1901317; P:regulation of flagellated sperm motility; ISS:UniProtKB.
DR GO; GO:0007288; P:sperm axoneme assembly; ISS:UniProtKB.
DR InterPro; IPR021897; FAP206.
DR PANTHER; PTHR21442; PTHR21442; 1.
DR Pfam; PF12018; FAP206; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cilium biogenesis/degradation; Cytoplasm;
KW Cytoskeleton; Reference proteome.
FT CHAIN 1..622
FT /note="Cilia- and flagella-associated protein 206"
FT /id="PRO_0000089553"
FT REGION 570..592
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 570..588
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 154
FT /note="R -> K (in dbSNP:rs13219364)"
FT /id="VAR_033679"
FT VARIANT 170
FT /note="G -> A (in dbSNP:rs16879281)"
FT /id="VAR_033680"
FT CONFLICT 489
FT /note="Q -> R (in Ref. 1; BAF85273)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 622 AA; 71193 MW; EC3818B8596C0B1E CRC64;
MPPTQAESVI RSIIREIGQE CAAHGEIVSE TLIAFMVKAV VLDPSNGFNM DRTLMKSDVQ
NLVKLCMTRL LDTKNPSLDT IKMQVYFDMN YTNRVEFLEE HHRVLESRLG SVTREITDNR
ACAKEELESL YRKIISYVLL RSGLGSPTDI KTVREVTAAL QSVFPQAELG TFLTLSKKDK
ERQLKELTMI VTGIRLFNRD CGKGGEGIDD LPAVLHVAIP ATMQHIDYQL ETARSQVYRY
TAILEKAAND PLMRAELQPY MLKEALYNIR QYEVFLQIIL SDIITGAQEV EMMTKQLGAH
LEQLKMTIKS KIAVPTSQVF PIFIALSTLW TSLQDETIVV GVLSNLFTHI QPFLGAHELY
FPERVMQCHL NGATVKTDVC RMKEHMEDRV NVADFRKLEW LFPETTANFD KLLIQYRGFC
AYTFAATDGL LLPGNPAIGI LKYKEKYYTF NSKDAAYSFA ENPEHYIDIV REKAKKNTEL
IQLLELHQQF ETFIPYSQMR DADKHYIKPI TKCESSTQTN THILPPTIVR SYEWNEWELR
RKAIKLANLR QKVTHSVQTD LSHLRRENCS QVYPPKDTST QSMREDSTGV PRPQIYLAGL
RGGKSEITDE VKVNLTRDVD ET
