ID   CF418_HUMAN             Reviewed;         207 AA.
AC   Q96NL8; F4Y588;
DT   09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-DEC-2001, sequence version 1.
DT   03-AUG-2022, entry version 122.
DE   RecName: Full=Cilia- and flagella-associated protein 418 {ECO:0000312|HGNC:HGNC:27232};
GN   Name=CFAP418 {ECO:0000312|HGNC:HGNC:27232}; Synonyms=C8orf37, smalltalk;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA].
RA   Clarke R.A., Zhao Z., Fang Z.M.;
RT   "The smalltalk gene overlaps the 5' end of the tospeak gene implicated in
RT   vocal development.";
RL   Submitted (JUN-2009) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16421571; DOI=10.1038/nature04406;
RA   Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA   Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA   Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA   Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA   Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA   Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA   Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA   Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA   Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA   O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA   Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA   Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA   Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA   Platzer M., Shimizu N., Lander E.S.;
RT   "DNA sequence and analysis of human chromosome 8.";
RL   Nature 439:331-335(2006).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   INVOLVEMENT IN CORD16, INVOLVEMENT IN RP64, VARIANT CORD16 TRP-177, VARIANT
RP   RP64 ARG-182, 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   [6]
RP   INVOLVEMENT IN BBS21, AND VARIANT BBS21 TRP-177.
RX   PubMed=26854863; DOI=10.3109/13816810.2015.1066830;
RA   Khan A.O., Decker E., Bachmann N., Bolz H.J., Bergmann C.;
RT   "C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus
RT   allelic to non-syndromic retinal dystrophies.";
RL   Ophthalmic Genet. 37:290-293(2016).
RN   [7]
RP   INVOLVEMENT IN BBS21.
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   -!- INTERACTION:
CC       Q96NL8; P04632: CAPNS1; NbExp=2; IntAct=EBI-11904873, EBI-711828;
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 (PubMed:22177090).
CC       Expressed throughout photoreceptors cell body including the basal body,
CC       inner segment and synaptic terminus, but not in the outer segment.
CC       {ECO:0000250|UniProtKB:Q3UJP5, ECO:0000269|PubMed:22177090}.
CC   -!- TISSUE SPECIFICITY: Widely expressed, with highest levels in heart and
CC       brain. Also expressed in the retina (at protein level).
CC       {ECO:0000269|PubMed:22177090}.
CC   -!- DISEASE: Cone-rod dystrophy 16 (CORD16) [MIM:614500]: An inherited
CC       retinal dystrophy characterized by retinal pigment deposits visible on
CC       fundus examination, predominantly in the macular region, and initial
CC       loss of cone photoreceptors followed by rod degeneration. This leads to
CC       decreased visual acuity and sensitivity in the central visual field,
CC       followed by loss of peripheral vision. Severe loss of vision occurs
CC       earlier than in retinitis pigmentosa, due to cone photoreceptors
CC       degenerating at a higher rate than rod photoreceptors.
CC       {ECO:0000269|PubMed:22177090}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- DISEASE: Retinitis pigmentosa 64 (RP64) [MIM:614500]: A retinal
CC       dystrophy belonging to the group of pigmentary retinopathies. Retinitis
CC       pigmentosa is characterized by retinal pigment deposits visible on
CC       fundus examination and primary loss of rod photoreceptor cells followed
CC       by secondary loss of cone photoreceptors. Patients typically have night
CC       vision blindness and loss of midperipheral visual field. As their
CC       condition progresses, they lose their far peripheral visual field and
CC       eventually central vision as well. {ECO:0000269|PubMed:22177090}.
CC       Note=The disease is caused by variants affecting the gene represented
CC       in this entry.
CC   -!- DISEASE: Bardet-Biedl syndrome 21 (BBS21) [MIM:617406]: A form of
CC       Bardet-Biedl syndrome, a syndrome characterized by usually severe
CC       pigmentary retinopathy, early-onset obesity, polydactyly,
CC       hypogenitalism, renal malformation and intellectual disability.
CC       Secondary features include diabetes mellitus, hypertension and
CC       congenital heart disease. Bardet-Biedl syndrome inheritance is
CC       autosomal recessive, but three mutated alleles (two at one locus, and a
CC       third at a second locus) may be required for clinical manifestation of
CC       some forms of the disease. {ECO:0000269|PubMed:26854863,
CC       ECO:0000269|PubMed:27008867}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
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DR   EMBL; AK055162; BAB70866.1; -; mRNA.
DR   EMBL; GQ240139; ADE62519.1; -; mRNA.
DR   EMBL; AP003466; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AC024995; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471060; EAW91744.1; -; Genomic_DNA.
DR   EMBL; CH471060; EAW91745.1; -; Genomic_DNA.
DR   CCDS; CCDS6268.1; -.
DR   RefSeq; NP_808880.1; NM_177965.3.
DR   AlphaFoldDB; Q96NL8; -.
DR   BioGRID; 127610; 5.
DR   IntAct; Q96NL8; 2.
DR   STRING; 9606.ENSP00000286688; -.
DR   iPTMnet; Q96NL8; -.
DR   PhosphoSitePlus; Q96NL8; -.
DR   BioMuta; C8orf37; -.
DR   DMDM; 74732592; -.
DR   EPD; Q96NL8; -.
DR   MassIVE; Q96NL8; -.
DR   MaxQB; Q96NL8; -.
DR   PaxDb; Q96NL8; -.
DR   PeptideAtlas; Q96NL8; -.
DR   PRIDE; Q96NL8; -.
DR   ProteomicsDB; 77536; -.
DR   Antibodypedia; 12959; 41 antibodies from 9 providers.
DR   DNASU; 157657; -.
DR   Ensembl; ENST00000286688.6; ENSP00000286688.5; ENSG00000156172.6.
DR   GeneID; 157657; -.
DR   KEGG; hsa:157657; -.
DR   MANE-Select; ENST00000286688.6; ENSP00000286688.5; NM_177965.4; NP_808880.1.
DR   UCSC; uc003yho.3; human.
DR   CTD; 157657; -.
DR   DisGeNET; 157657; -.
DR   GeneCards; C8orf37; -.
DR   GeneReviews; CFAP418; -.
DR   HGNC; HGNC:27232; CFAP418.
DR   HPA; ENSG00000156172; Low tissue specificity.
DR   MalaCards; C8orf37; -.
DR   MIM; 614477; gene.
DR   MIM; 614500; phenotype.
DR   MIM; 617406; phenotype.
DR   neXtProt; NX_Q96NL8; -.
DR   OpenTargets; ENSG00000156172; -.
DR   Orphanet; 110; Bardet-Biedl syndrome.
DR   Orphanet; 1872; Cone rod dystrophy.
DR   Orphanet; 791; Retinitis pigmentosa.
DR   VEuPathDB; HostDB:ENSG00000156172; -.
DR   eggNOG; ENOG502S1KM; Eukaryota.
DR   GeneTree; ENSGT00390000006173; -.
DR   HOGENOM; CLU_092833_0_0_1; -.
DR   InParanoid; Q96NL8; -.
DR   OMA; VVQAHGK; -.
DR   OrthoDB; 1589583at2759; -.
DR   PhylomeDB; Q96NL8; -.
DR   TreeFam; TF328851; -.
DR   PathwayCommons; Q96NL8; -.
DR   SignaLink; Q96NL8; -.
DR   BioGRID-ORCS; 157657; 11 hits in 1068 CRISPR screens.
DR   GenomeRNAi; 157657; -.
DR   Pharos; Q96NL8; Tbio.
DR   PRO; PR:Q96NL8; -.
DR   Proteomes; UP000005640; Chromosome 8.
DR   RNAct; Q96NL8; protein.
DR   Bgee; ENSG00000156172; Expressed in secondary oocyte and 143 other tissues.
DR   Genevisible; Q96NL8; HS.
DR   GO; GO:0030054; C:cell junction; IDA:HPA.
DR   GO; GO:0097546; C:ciliary base; IDA:UniProtKB.
DR   GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR   GO; GO:0005829; C:cytosol; IDA:HPA.
DR   GO; GO:0001917; C:photoreceptor inner segment; ISS:UniProtKB.
DR   GO; GO:0005886; C:plasma membrane; IDA:HPA.
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   Bardet-Biedl syndrome; Ciliopathy; Cone-rod dystrophy; Cytoplasm;
KW   Disease variant; Obesity; Reference proteome; Retinitis pigmentosa.
FT   CHAIN           1..207
FT                   /note="Cilia- and flagella-associated protein 418"
FT                   /id="PRO_0000271058"
FT   REGION          26..52
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         19
FT                   /note="P -> A (in dbSNP:rs36096184)"
FT                   /id="VAR_033683"
FT   VARIANT         177
FT                   /note="R -> W (in CORD16 and BBS21; dbSNP:rs387907136)"
FT                   /evidence="ECO:0000269|PubMed:22177090,
FT                   ECO:0000269|PubMed:26854863"
FT                   /id="VAR_067305"
FT   VARIANT         182
FT                   /note="Q -> R (in RP64; dbSNP:rs387907137)"
FT                   /evidence="ECO:0000269|PubMed:22177090"
FT                   /id="VAR_067306"
SQ   SEQUENCE   207 AA;  23381 MW;  86B438BB7093C7A5 CRC64;
     MAEDLDELLD EVESKFCTPD LLRRGMVEQP KGCGGGTHSS DRNQAKAKET LRSTETFKKE
     DDLDSLINEI LEEPNLDKKP SKLKSKSSGN TSVRASIEGL GKSCSPVYLG GSSIPCGIGT
     NISWRACDHL RCIACDFLVV SYDDYMWDKS CDYLFFRNNM PEFHKLKAKL IKKKGTRAYA
     CQCSWRTIEE VTDLQTDHQL RWVCGKH