CF418_BOVIN
ID CF418_BOVIN Reviewed; 207 AA.
AC E1BC52;
DT 16-MAY-2012, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 1.
DT 03-AUG-2022, entry version 52.
DE RecName: Full=Cilia- and flagella-associated protein 418;
GN Name=CFAP418;
OS Bos taurus (Bovine).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Laurasiatheria; Artiodactyla; Ruminantia; Pecora; Bovidae;
OC Bovinae; Bos.
OX NCBI_TaxID=9913;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=Hereford;
RX PubMed=19393038; DOI=10.1186/gb-2009-10-4-r42;
RA Zimin A.V., Delcher A.L., Florea L., Kelley D.R., Schatz M.C., Puiu D.,
RA Hanrahan F., Pertea G., Van Tassell C.P., Sonstegard T.S., Marcais G.,
RA Roberts M., Subramanian P., Yorke J.A., Salzberg S.L.;
RT "A whole-genome assembly of the domestic cow, Bos taurus.";
RL Genome Biol. 10:R42.01-R42.10(2009).
RN [2]
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).
CC -!- FUNCTION: May be involved in photoreceptor outer segment disk
CC morphogenesis (By similarity). {ECO:0000250|UniProtKB:Q3UJP5}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q3UJP5}.
CC Photoreceptor inner segment {ECO:0000250|UniProtKB:Q3UJP5}. Note=In the
CC retina, located at the base of the primary cilium (By similarity).
CC Expressed throughout photoreceptors cell body including the basal body,
CC inner segment and synaptic terminus, but not in the outer segment (By
CC similarity). {ECO:0000250|UniProtKB:Q3UJP5}.
CC -!- TISSUE SPECIFICITY: Expressed in the retina (at protein level).
CC {ECO:0000269|PubMed:22177090}.
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DR EMBL; DAAA02039458; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; DAAA02039459; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR RefSeq; XP_002692859.1; XM_002692813.5.
DR RefSeq; XP_871425.1; XM_866332.8.
DR AlphaFoldDB; E1BC52; -.
DR STRING; 9913.ENSBTAP00000053773; -.
DR PaxDb; E1BC52; -.
DR Ensembl; ENSBTAT00000060954; ENSBTAP00000053773; ENSBTAG00000043970.
DR GeneID; 614744; -.
DR KEGG; bta:614744; -.
DR CTD; 157657; -.
DR VEuPathDB; HostDB:ENSBTAG00000043970; -.
DR VGNC; VGNC:52626; CFAP418.
DR eggNOG; ENOG502S1KM; Eukaryota.
DR GeneTree; ENSGT00390000006173; -.
DR HOGENOM; CLU_092833_0_0_1; -.
DR InParanoid; E1BC52; -.
DR OMA; VVQAHGK; -.
DR OrthoDB; 1589583at2759; -.
DR TreeFam; TF328851; -.
DR Proteomes; UP000009136; Chromosome 14.
DR Bgee; ENSBTAG00000043970; Expressed in oviduct epithelium and 110 other tissues.
DR GO; GO:0030054; C:cell junction; IEA:Ensembl.
DR GO; GO:0097546; C:ciliary base; IEA:Ensembl.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005829; C:cytosol; IBA:GO_Central.
DR GO; GO:0001917; C:photoreceptor inner segment; ISS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IEA:Ensembl.
DR GO; GO:0008594; P:photoreceptor cell morphogenesis; ISS: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..207
FT /note="Cilia- and flagella-associated protein 418"
FT /id="PRO_0000417026"
SQ SEQUENCE 207 AA; 23550 MW; 2DF37DFB44BE218B CRC64;
MAEDLDELLD EVESKFCRPD PLRLGTVERP RGGGGGFFGH DQNRAEAKEN LRSAETFEKE
DDLDSLINEI FEEPHFDKKH FKLKSKSSGN TSVRASIQGL GKSCSPVYIG GSTVPCGIGT
NASPRACDHL RCTACDFWVE SYDDYRWDKS CDYLFFRNNM PEFHKLKTKL VKKKGTRAYA
CQCSWKAVEE LTDLQTDHQL RWVCGKH