ID   CF418_DANRE             Reviewed;         202 AA.
AC   P0DOC8;
DT   02-NOV-2016, integrated into UniProtKB/Swiss-Prot.
DT   02-NOV-2016, sequence version 1.
DT   03-AUG-2022, entry version 21.
DE   RecName: Full=Cilia- and flagella-associated protein 418;
GN   Name=cfap418; ORFNames=dkey-242e21.4;
OS   Danio rerio (Zebrafish) (Brachydanio rerio).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC   Danionidae; Danioninae; Danio.
OX   NCBI_TaxID=7955;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RG   NIH - Zebrafish Gene Collection (ZGC) project;
RL   Submitted (DEC-2012) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   TISSUE SPECIFICITY, DISRUPTION PHENOTYPE, AND MUTAGENESIS OF ARG-170 AND
RP   GLN-175.
RX   PubMed=27008867; DOI=10.1093/hmg/ddw096;
RA   Heon E., Kim G., Qin S., Garrison J.E., Tavares E., Vincent A.,
RA   Nuangchamnong N., Scott C.A., Slusarski D.C., Sheffield V.C.;
RT   "Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).";
RL   Hum. Mol. Genet. 25:2283-2294(2016).
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}.
CC   -!- TISSUE SPECIFICITY: Ubiquitously expressed during early development and
CC       in adult tissues including the eye, brain, heart and kidney
CC       (PubMed:27008867). {ECO:0000269|PubMed:27008867}.
CC   -!- DISRUPTION PHENOTYPE: Results in the cardinal features of Bardet-Biedl
CC       syndrome, including defects to the ciliated Kupffer's vesicle, delayed
CC       retrograde melanosome transport and impaired visual behavior.
CC       {ECO:0000269|PubMed:27008867}.
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DR   EMBL; BX072576; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   RefSeq; XP_003200284.2; XM_003200236.4.
DR   AlphaFoldDB; P0DOC8; -.
DR   GeneID; 100534958; -.
DR   KEGG; dre:100534958; -.
DR   CTD; 157657; -.
DR   ZFIN; ZDB-GENE-100921-86; cfap418.
DR   OrthoDB; 1589583at2759; -.
DR   PRO; PR:P0DOC8; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Unplaced.
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; IEA:UniProtKB-SubCell.
DR   GO; GO:0070121; P:Kupffer's vesicle development; IMP:ZFIN.
DR   GO; GO:0032402; P:melanosome transport; IMP:ZFIN.
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..202
FT                   /note="Cilia- and flagella-associated protein 418"
FT                   /id="PRO_0000437673"
FT   REGION          71..90
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MUTAGEN         170
FT                   /note="R->W: Causes Kupffer's vesicle formation defects,
FT                   melanosome transport delays and visual impairment."
FT                   /evidence="ECO:0000269|PubMed:27008867"
FT   MUTAGEN         175
FT                   /note="Q->R: Causes Kupffer's vesicle formation defects,
FT                   melanosome transport delays and visual impairment."
FT                   /evidence="ECO:0000269|PubMed:27008867"
SQ   SEQUENCE   202 AA;  23085 MW;  A1A3CA60793E1A1B CRC64;
     MADDLDDLLD EVESKFCCNT SESKQTSRVM KHTDQKCDNL EERKLPRKQG RKRVENEIDI
     DAMLHEILDD DVDTPTSTHE PSPAKASSSA QTISKKCCPV FLGGSSVAHG IGTSVSERAC
     NRLRCTYCDF SVITFDDHEW DSSCDYLFFR NNMPDYHKLK VHLRRRAGVR AYACQCSWIS
     ILTLSHLREQ PQLKWVCGKH RA