CF418_MOUSE
ID CF418_MOUSE Reviewed; 209 AA.
AC Q3UJP5; Q6PDD5;
DT 09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT 11-OCT-2005, sequence version 1.
DT 03-AUG-2022, entry version 92.
DE RecName: Full=Cilia- and flagella-associated protein 418;
GN Name=Cfap418;
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=BALB/cJ;
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 MRNA].
RC STRAIN=FVB/N; TISSUE=Mammary gland;
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 [3]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain, and 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 [4]
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=22177090; DOI=10.1016/j.ajhg.2011.11.015;
RA Estrada-Cuzcano A., Neveling K., Kohl S., Banin E., Rotenstreich Y.,
RA Sharon D., Falik-Zaccai T.C., Hipp S., Roepman R., Wissinger B.,
RA Letteboer S.J., Mans D.A., Blokland E.A., Kwint M.P., Gijsen S.J.,
RA van Huet R.A., Collin R.W., Scheffer H., Veltman J.A., Zrenner E.,
RA den Hollander A.I., Klevering B.J., Cremers F.P.;
RT "Mutations in C8orf37, encoding a ciliary protein, are associated with
RT autosomal-recessive retinal dystrophies with early macular involvement.";
RL Am. J. Hum. Genet. 90:102-109(2012).
RN [5]
RP DISRUPTION PHENOTYPE, SUBCELLULAR LOCATION, FUNCTION, AND TISSUE
RP SPECIFICITY.
RX PubMed=29440555; DOI=10.1523/jneurosci.2964-17.2018;
RA Sharif A.S., Yu D., Loertscher S., Austin R., Nguyen K., Mathur P.D.,
RA Clark A.M., Zou J., Lobanova E.S., Arshavsky V.Y., Yang J.;
RT "C8ORF37 is required for photoreceptor outer segment disc morphogenesis by
RT maintaining outer segment membrane protein homeostasis.";
RL J. Neurosci. 38:3160-3176(2018).
CC -!- FUNCTION: May be involved in photoreceptor outer segment disk
CC morphogenesis. {ECO:0000269|PubMed:29440555}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22177090,
CC ECO:0000269|PubMed:29440555}. Photoreceptor inner segment
CC {ECO:0000269|PubMed:29440555}. Note=In the retina, located at the base
CC of the primary cilium (PubMed:22177090). Expressed throughout
CC photoreceptors cell body including the basal body, inner segment and
CC synaptic terminus, but not in the outer segment (at the protein level).
CC {ECO:0000269|PubMed:29440555}.
CC -!- TISSUE SPECIFICITY: Expressed in multiple tissues, including the brain,
CC kidney, lung, spleen, heart, trachea and testis (PubMed:29440555).
CC Expressed in the retina (at protein level) (PubMed:22177090,
CC PubMed:29440555). {ECO:0000269|PubMed:22177090,
CC ECO:0000269|PubMed:29440555}.
CC -!- DISRUPTION PHENOTYPE: No visible phenotype. However mice exhibit
CC progressive and simultaneous degeneration of rod and cone
CC photoreceptors (PubMed:29440555). {ECO:0000269|PubMed:29440555}.
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; AK146358; BAE27110.1; -; mRNA.
DR EMBL; BC058777; AAH58777.1; -; mRNA.
DR CCDS; CCDS17961.1; -.
DR RefSeq; NP_080281.3; NM_026005.3.
DR AlphaFoldDB; Q3UJP5; -.
DR SMR; Q3UJP5; -.
DR BioGRID; 211983; 1.
DR STRING; 10090.ENSMUSP00000103966; -.
DR PhosphoSitePlus; Q3UJP5; -.
DR EPD; Q3UJP5; -.
DR MaxQB; Q3UJP5; -.
DR PaxDb; Q3UJP5; -.
DR PeptideAtlas; Q3UJP5; -.
DR PRIDE; Q3UJP5; -.
DR Antibodypedia; 12959; 41 antibodies from 9 providers.
DR Ensembl; ENSMUST00000080517; ENSMUSP00000079361; ENSMUSG00000059482.
DR GeneID; 67157; -.
DR KEGG; mmu:67157; -.
DR UCSC; uc012dam.1; mouse.
DR CTD; 157657; -.
DR MGI; MGI:1914407; 2610301B20Rik.
DR VEuPathDB; HostDB:ENSMUSG00000059482; -.
DR eggNOG; ENOG502S1KM; Eukaryota.
DR GeneTree; ENSGT00390000006173; -.
DR HOGENOM; CLU_092833_0_0_1; -.
DR InParanoid; Q3UJP5; -.
DR OrthoDB; 1589583at2759; -.
DR BioGRID-ORCS; 67157; 2 hits in 73 CRISPR screens.
DR PRO; PR:Q3UJP5; -.
DR Proteomes; UP000000589; Chromosome 4.
DR RNAct; Q3UJP5; protein.
DR Bgee; ENSMUSG00000059482; Expressed in spermatocyte and 237 other tissues.
DR ExpressionAtlas; Q3UJP5; baseline and differential.
DR Genevisible; Q3UJP5; MM.
DR GO; GO:0030054; C:cell junction; ISO:MGI.
DR GO; GO:0097546; C:ciliary base; ISO:MGI.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; ISO:MGI.
DR GO; GO:0001917; C:photoreceptor inner segment; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; ISO:MGI.
DR GO; GO:0008594; P:photoreceptor cell morphogenesis; IMP:UniProtKB.
DR InterPro; IPR029239; CFAP418.
DR PANTHER; PTHR33958; PTHR33958; 1.
DR Pfam; PF14996; RMP; 1.
PE 1: Evidence at protein level;
KW Cytoplasm; Reference proteome.
FT CHAIN 1..209
FT /note="Cilia- and flagella-associated protein 418"
FT /id="PRO_0000271059"
FT REGION 24..58
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 43..58
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 11
FT /note="E -> D (in Ref. 2; AAH58777)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 209 AA; 23848 MW; B9CB271C4FD65613 CRC64;
MAKDLDELLD EVETKFCRLD PLRLDLGERP KGDGGGGSHS GDRNGAQEKE TLRSTETFKK
EDDLDSLINE IFEEPDFDRK SFQKFKSKSS SNTCVRAPMQ GVSKSCSPVY LSGSAIPCGI
GTNTSQRACD RLRCVACDFR IVSYNDYMWD KSCDYLFFRN NMPEFHKLKT KLIEKKGARA
YACQCSWRTV EELTDLQTDH QLRWVCGKH
