CF206_MOUSE
ID CF206_MOUSE Reviewed; 622 AA.
AC Q6PE87; A2AT45; A2AT46; A2AT47; Q9DAP6;
DT 20-JAN-2009, integrated into UniProtKB/Swiss-Prot.
DT 20-JAN-2009, sequence version 2.
DT 03-AUG-2022, entry version 108.
DE RecName: Full=Cilia- and flagella-associated protein 206 {ECO:0000305};
GN Name=Cfap206 {ECO:0000312|MGI:MGI:1916579};
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Adams M.D., Myers E.W., Smith H.O., Venter J.C.;
RL Submitted (JUN-2007) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Olfactory epithelium;
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 351-622 (ISOFORM 1).
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [5]
RP FUNCTION (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE,
RP TISSUE SPECIFICITY (ISOFORMS 1 AND 2), AND DEVELOPMENTAL STAGE.
RX PubMed=32376681; DOI=10.1242/dev.188052;
RA Beckers A., Adis C., Schuster-Gossler K., Tveriakhina L., Ott T., Fuhl F.,
RA Hegermann J., Boldt K., Serth K., Rachev E., Alten L., Kremmer E.,
RA Ueffing M., Blum M., Gossler A.;
RT "The FOXJ1 target Cfap206 is required for sperm motility, mucociliary
RT clearance of the airways and brain development.";
RL Development 147:0-0(2020).
CC -!- FUNCTION: [Isoform 1]: Essential for sperm motility and is involved in
CC the regulation of the beating frequency of motile cilia on the
CC epithelial cells of the respiratory tract (PubMed:32376681). Required
CC for the establishment of radial spokes in sperm flagella
CC (PubMed:32376681). {ECO:0000269|PubMed:32376681}.
CC -!- FUNCTION: [Isoform 2]: Essential for sperm motility and is involved in
CC the regulation of the beating frequency of motile cilia on the
CC epithelial cells of the respiratory tract (PubMed:32376681). Required
CC for the establishment of radial spokes in sperm flagella
CC (PubMed:32376681). {ECO:0000269|PubMed:32376681}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme
CC {ECO:0000269|PubMed:32376681}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000269|PubMed:32376681}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6PE87-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6PE87-2; Sequence=VSP_036124, VSP_036125;
CC -!- TISSUE SPECIFICITY: [Isoform 1]: Expressed in the sperm, oviduct, lung,
CC nasal cavity, brain ependyma and choroid plexus.
CC {ECO:0000269|PubMed:32376681}.
CC -!- TISSUE SPECIFICITY: [Isoform 2]: Expressed in the sperm, oviduct, lung,
CC nasal cavity, brain ependyma and choroid plexus.
CC {ECO:0000269|PubMed:32376681}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the left-right organiser at embryonic
CC day 8.0 dpc and at 17.5 dpc, expressed in the airway epithelia and
CC brain ependymal tissues. {ECO:0000269|PubMed:32376681}.
CC -!- DISRUPTION PHENOTYPE: Mice postnatally develop hydrocephalus, show
CC impaired mucociliary clearance of the airways and are characterized by
CC male infertility. {ECO:0000269|PubMed:32376681}.
CC -!- SIMILARITY: Belongs to the CFAP206 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH58220.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAB24168.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAM26878.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AL928738; CAM26876.1; -; Genomic_DNA.
DR EMBL; AL928738; CAM26877.1; -; Genomic_DNA.
DR EMBL; AL928738; CAM26878.1; ALT_SEQ; Genomic_DNA.
DR EMBL; CH466538; EDL05471.1; -; Genomic_DNA.
DR EMBL; BC058220; AAH58220.1; ALT_INIT; mRNA.
DR EMBL; AK005650; BAB24168.1; ALT_INIT; mRNA.
DR CCDS; CCDS18031.2; -. [Q6PE87-2]
DR CCDS; CCDS84713.1; -. [Q6PE87-1]
DR RefSeq; NP_001333991.1; NM_001347062.1. [Q6PE87-1]
DR RefSeq; NP_081317.4; NM_027041.4. [Q6PE87-2]
DR RefSeq; XP_006538295.1; XM_006538232.3. [Q6PE87-1]
DR RefSeq; XP_006538296.1; XM_006538233.3. [Q6PE87-1]
DR AlphaFoldDB; Q6PE87; -.
DR SMR; Q6PE87; -.
DR STRING; 10090.ENSMUSP00000103771; -.
DR PhosphoSitePlus; Q6PE87; -.
DR PaxDb; Q6PE87; -.
DR PRIDE; Q6PE87; -.
DR ProteomicsDB; 283892; -. [Q6PE87-1]
DR ProteomicsDB; 283893; -. [Q6PE87-2]
DR DNASU; 69329; -.
DR Ensembl; ENSMUST00000029971; ENSMUSP00000029971; ENSMUSG00000028294. [Q6PE87-1]
DR Ensembl; ENSMUST00000108136; ENSMUSP00000103771; ENSMUSG00000028294. [Q6PE87-2]
DR GeneID; 69329; -.
DR KEGG; mmu:69329; -.
DR UCSC; uc008sgj.2; mouse. [Q6PE87-2]
DR CTD; 154313; -.
DR MGI; MGI:1916579; Cfap206.
DR VEuPathDB; HostDB:ENSMUSG00000028294; -.
DR eggNOG; ENOG502QTGJ; Eukaryota.
DR GeneTree; ENSGT00390000016036; -.
DR HOGENOM; CLU_030061_0_0_1; -.
DR InParanoid; Q6PE87; -.
DR OMA; LHDTVRY; -.
DR OrthoDB; 357137at2759; -.
DR PhylomeDB; Q6PE87; -.
DR TreeFam; TF323439; -.
DR BioGRID-ORCS; 69329; 0 hits in 27 CRISPR screens.
DR ChiTaRS; Cfap206; mouse.
DR PRO; PR:Q6PE87; -.
DR Proteomes; UP000000589; Chromosome 4.
DR RNAct; Q6PE87; protein.
DR Bgee; ENSMUSG00000028294; Expressed in spermatid and 76 other tissues.
DR ExpressionAtlas; Q6PE87; baseline and differential.
DR Genevisible; Q6PE87; MM.
DR GO; GO:0005930; C:axoneme; IDA:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IDA: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; IMP:UniProtKB.
DR GO; GO:1901317; P:regulation of flagellated sperm motility; IMP:UniProtKB.
DR GO; GO:0007288; P:sperm axoneme assembly; IMP:UniProtKB.
DR InterPro; IPR021897; FAP206.
DR PANTHER; PTHR21442; PTHR21442; 1.
DR Pfam; PF12018; FAP206; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium;
KW Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton; Reference proteome.
FT CHAIN 1..622
FT /note="Cilia- and flagella-associated protein 206"
FT /id="PRO_0000358910"
FT REGION 568..593
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 568..588
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 499..504
FT /note="MRDVDK -> VNMAFS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_036124"
FT VAR_SEQ 505..622
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_036125"
SQ SEQUENCE 622 AA; 70946 MW; 2FD5C50964B52B3F CRC64;
MPPTQAESVI KNIIREIGQE CAAHGEIASE TVVAFMVKAV VLDPSNGFNM DRTLIKTDVQ
KLVKLCVARL LDNKNPSLDT IKMQVYFDMN YTSREDFLEE HHRVLESRLG IVSREITDNR
ASAREELENL YRKIVSYVLL RSGLGSPTDI KIVREATAAL QSVFPQAELA TFLTLSKKDK
ERQLKELTMI VTGIRLFNRD CGKGGEGIDD LPAILHEAIP TTTQHIDSQL QIAQDQAFRY
TAILEKVTNN PLMAKELQPY MLKEALYNVR QYEIFLQTVL SDIITCAEEV EMMIKQLAAQ
LEQLKMAVKS KTAVPTSQVF PIFVALASLW MSFQDETVLI SVLSNLTTNL ELFLGTHELL
FPEKVMLGLL DGVVVKSDLT RIEEHMEERV ELADFRTQEW LFPETTANFN KLLIQYRGFC
GYTFAVTDGL LLPGNPAIGI LKYKEKYYTF STRDAAYTFA ENPDHYIHLI KEKAKKNAEL
IQLLELHQQF ETLIPYSQMR DVDKHYIKPI TKCDNGTQTD THILPPTTMR TYEWNEWELR
RKAIKLANLR QKITHSVQTD LSHMRRDNTS QVYPLKEAST QSKREGSSRV PRPQIFIAGL
RGGQSKTTYG VKVNLTRAVD ET
