CF410_MOUSE
ID CF410_MOUSE Reviewed; 249 AA.
AC Q8C6G1; Q91Z02;
DT 03-OCT-2012, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Cilia- and flagella-associated protein 410 {ECO:0000250|UniProtKB:O43822};
GN Name=Cfap410 {ECO:0000250|UniProtKB:O43822};
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 MRNA].
RC STRAIN=C57BL/6J; TISSUE=Pancreas;
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 [2]
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 [3]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC STRAIN=Czech II; TISSUE=Mammary tumor;
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 IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [6]
RP DISRUPTION PHENOTYPE, AND FUNCTION.
RX PubMed=21289087; DOI=10.1091/mbc.e10-07-0596;
RA Lai C.K., Gupta N., Wen X., Rangell L., Chih B., Peterson A.S., Bazan J.F.,
RA Li L., Scales S.J.;
RT "Functional characterization of putative cilia genes by high-content
RT analysis.";
RL Mol. Biol. Cell 22:1104-1119(2011).
RN [7]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=26294103; DOI=10.1136/bjophthalmol-2015-307277;
RA Khan A.O., Eisenberger T., Nagel-Wolfrum K., Wolfrum U., Bolz H.J.;
RT "C21orf2 is mutated in recessive early-onset retinal dystrophy with macular
RT staphyloma and encodes a protein that localises to the photoreceptor
RT primary cilium.";
RL Br. J. Ophthalmol. 99:1725-1731(2015).
RN [8]
RP SUBCELLULAR LOCATION.
RX PubMed=26167768; DOI=10.1038/ncb3201;
RG UK10K Consortium;
RG University of Washington Center for Mendelian Genomics;
RA Wheway G., Schmidts M., Mans D.A., Szymanska K., Nguyen T.M., Racher H.,
RA Phelps I.G., Toedt G., Kennedy J., Wunderlich K.A., Sorusch N.,
RA Abdelhamed Z.A., Natarajan S., Herridge W., van Reeuwijk J., Horn N.,
RA Boldt K., Parry D.A., Letteboer S.J., Roosing S., Adams M., Bell S.M.,
RA Bond J., Higgins J., Morrison E.E., Tomlinson D.C., Slaats G.G.,
RA van Dam T.J., Huang L., Kessler K., Giessl A., Logan C.V., Boyle E.A.,
RA Shendure J., Anazi S., Aldahmesh M., Al Hazzaa S., Hegele R.A., Ober C.,
RA Frosk P., Mhanni A.A., Chodirker B.N., Chudley A.E., Lamont R.,
RA Bernier F.P., Beaulieu C.L., Gordon P., Pon R.T., Donahue C.,
RA Barkovich A.J., Wolf L., Toomes C., Thiel C.T., Boycott K.M., McKibbin M.,
RA Inglehearn C.F., Stewart F., Omran H., Huynen M.A., Sergouniotis P.I.,
RA Alkuraya F.S., Parboosingh J.S., Innes A.M., Willoughby C.E., Giles R.H.,
RA Webster A.R., Ueffing M., Blacque O., Gleeson J.G., Wolfrum U.,
RA Beales P.L., Gibson T., Doherty D., Mitchison H.M., Roepman R.,
RA Johnson C.A.;
RT "An siRNA-based functional genomics screen for the identification of
RT regulators of ciliogenesis and ciliopathy genes.";
RL Nat. Cell Biol. 17:1074-1087(2015).
RN [9]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=27548899; DOI=10.1167/iovs.16-19450;
RA Suga A., Mizota A., Kato M., Kuniyoshi K., Yoshitake K., Sultan W.,
RA Yamazaki M., Shimomura Y., Ikeo K., Tsunoda K., Iwata T.;
RT "Identification of novel mutations in the LRR-Cap domain of C21orf2 in
RT Japanese patients with retinitis pigmentosa and Cone-Rod Dystrophy.";
RL Invest. Ophthalmol. Vis. Sci. 57:4255-4263(2016).
RN [10]
RP INDUCTION, AND SUBCELLULAR LOCATION.
RX PubMed=26974433; DOI=10.1371/journal.pone.0150555;
RA Wang Z., Iida A., Miyake N., Nishiguchi K.M., Fujita K., Nakazawa T.,
RA Alswaid A., Albalwi M.A., Kim O.H., Cho T.J., Lim G.Y., Isidor B.,
RA David A., Rustad C.F., Merckoll E., Westvik J., Stattin E.L.,
RA Grigelioniene G., Kou I., Nakajima M., Ohashi H., Smithson S.,
RA Matsumoto N., Nishimura G., Ikegawa S.;
RT "Axial spondylometaphyseal dysplasia is caused by C21orf2 mutations.";
RL PLoS ONE 11:E0150555-E0150555(2016).
CC -!- FUNCTION: Plays a role in cilia formation and/or maintenance
CC (PubMed:21289087). Plays a role in the regulation of cell morphology
CC and cytoskeletal organization (By similarity). Involved in DNA damage
CC repair (By similarity). {ECO:0000250|UniProtKB:O43822,
CC ECO:0000269|PubMed:21289087}.
CC -!- SUBUNIT: Found in a complex with CFAP410, NEK1 and SPATA7 (By
CC similarity). Interacts with NEK1 (By similarity).
CC {ECO:0000250|UniProtKB:O43822}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC {ECO:0000269|PubMed:26294103, ECO:0000269|PubMed:26974433,
CC ECO:0000269|PubMed:27548899}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000269|PubMed:26167768, ECO:0000269|PubMed:26294103}.
CC Mitochondrion {ECO:0000250|UniProtKB:O43822}. Cell projection, cilium,
CC photoreceptor outer segment {ECO:0000250|UniProtKB:O43822}. Cytoplasm
CC {ECO:0000250|UniProtKB:O43822}. Note=Localized to the connecting cilium
CC of the cone and rod photoreceptors (PubMed:27548899, PubMed:26974433).
CC Colocalizes with NEK1 and SPATA7 at the basal body (By similarity).
CC {ECO:0000250|UniProtKB:O43822, ECO:0000269|PubMed:26167768,
CC ECO:0000269|PubMed:26974433, ECO:0000269|PubMed:27548899}.
CC -!- TISSUE SPECIFICITY: Expressed in the retina.
CC {ECO:0000269|PubMed:26167768, ECO:0000269|PubMed:26294103}.
CC -!- INDUCTION: Up-regulated during cartilage differentiation
CC (PubMed:26974433).
CC -!- DISRUPTION PHENOTYPE: Cilia absent or reduced, virtually no cilia of
CC the normal 5 uM mean length.
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DR EMBL; AK075794; BAC35963.1; -; mRNA.
DR EMBL; AC158612; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH466553; EDL31765.1; -; Genomic_DNA.
DR EMBL; BC010330; AAH10330.1; -; mRNA.
DR CCDS; CCDS35954.1; -.
DR RefSeq; NP_080707.2; NM_026431.2.
DR AlphaFoldDB; Q8C6G1; -.
DR SMR; Q8C6G1; -.
DR STRING; 10090.ENSMUSP00000101036; -.
DR iPTMnet; Q8C6G1; -.
DR PhosphoSitePlus; Q8C6G1; -.
DR MaxQB; Q8C6G1; -.
DR PaxDb; Q8C6G1; -.
DR PRIDE; Q8C6G1; -.
DR Antibodypedia; 24213; 159 antibodies from 21 providers.
DR Ensembl; ENSMUST00000105397; ENSMUSP00000101036; ENSMUSG00000020284.
DR GeneID; 67884; -.
DR KEGG; mmu:67884; -.
DR UCSC; uc007fwn.1; mouse.
DR CTD; 755; -.
DR MGI; MGI:1915134; Cfap410.
DR VEuPathDB; HostDB:ENSMUSG00000020284; -.
DR eggNOG; KOG2123; Eukaryota.
DR GeneTree; ENSGT00390000018807; -.
DR HOGENOM; CLU_062035_1_0_1; -.
DR InParanoid; Q8C6G1; -.
DR OMA; ETDCSCK; -.
DR OrthoDB; 1021585at2759; -.
DR PhylomeDB; Q8C6G1; -.
DR TreeFam; TF326666; -.
DR BioGRID-ORCS; 67884; 2 hits in 72 CRISPR screens.
DR ChiTaRS; Cfap410; mouse.
DR PRO; PR:Q8C6G1; -.
DR Proteomes; UP000000589; Chromosome 10.
DR RNAct; Q8C6G1; protein.
DR Bgee; ENSMUSG00000020284; Expressed in floor plate of midbrain and 231 other tissues.
DR ExpressionAtlas; Q8C6G1; baseline and differential.
DR Genevisible; Q8C6G1; MM.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; ISO:MGI.
DR GO; GO:0005739; C:mitochondrion; ISS:UniProtKB.
DR GO; GO:0097733; C:photoreceptor cell cilium; IDA:MGI.
DR GO; GO:0032391; C:photoreceptor connecting cilium; IDA:UniProtKB.
DR GO; GO:0001750; C:photoreceptor outer segment; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; ISO:MGI.
DR GO; GO:0006974; P:cellular response to DNA damage stimulus; IEA:UniProtKB-KW.
DR GO; GO:0060271; P:cilium assembly; IMP:MGI.
DR GO; GO:0007010; P:cytoskeleton organization; ISO:MGI.
DR GO; GO:0008360; P:regulation of cell shape; ISO:MGI.
DR GO; GO:0007224; P:smoothened signaling pathway; IMP:MGI.
DR Gene3D; 3.80.10.10; -; 1.
DR InterPro; IPR001611; Leu-rich_rpt.
DR InterPro; IPR032675; LRR_dom_sf.
DR PROSITE; PS51450; LRR; 2.
PE 1: Evidence at protein level;
KW Cell projection; Cilium biogenesis/degradation; Cytoplasm; Cytoskeleton;
KW DNA damage; Leucine-rich repeat; Mitochondrion; Reference proteome; Repeat.
FT CHAIN 1..249
FT /note="Cilia- and flagella-associated protein 410"
FT /id="PRO_0000419170"
FT REPEAT 19..40
FT /note="LRR 1"
FT REPEAT 41..62
FT /note="LRR 2"
FT REPEAT 63..84
FT /note="LRR 3"
FT DOMAIN 97..137
FT /note="LRRCT"
FT REGION 146..203
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 159..199
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 162
FT /note="N -> H (in Ref. 4; AAH10330)"
FT /evidence="ECO:0000305"
FT CONFLICT 206
FT /note="N -> S (in Ref. 4; AAH10330)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 249 AA; 28239 MW; F3B26A152BFB1819 CRC64;
MKLTRKMVLS RAKASELHNV RKLNCWGSQL TDISICREMP SLEVITLSVN SVSTLEPVRS
CRRLSELYLR RNRIPSLNEL FYLKDLPHLR VLWLAENPCC GTSPHLYRMT VLRNLPHLQK
LDNQAVTEEE LTRALMEGDE ITAAPHREGA GNGCPKPPYA LNSVSSATET SQHLLSYTEE
TEVQGQTTTD QSPSFSPRDT MRSHKNRNIL TAILLLLREL DTEGLETVQQ TVGSRLQALH
RPEPQEDME
