CF299_HUMAN
ID CF299_HUMAN Reviewed; 233 AA.
AC Q6V702; E7EQ13; Q6ZQY4; Q8N4G9;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 4.
DT 03-AUG-2022, entry version 113.
DE RecName: Full=Cilia- and flagella-associated protein 299 {ECO:0000305};
GN Name=CFAP299 {ECO:0000312|HGNC:HGNC:28554};
GN Synonyms=C4orf22 {ECO:0000312|HGNC:HGNC:28554};
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] (ISOFORM 1), AND VARIANT ILE-220.
RA Zhou G., Yu R., Zheng G., Li H., Shen C., Ke R., Li M., Xiao W., Lin L.,
RA Yang S.;
RL Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Trachea;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ILE-220.
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT ILE-220.
RC TISSUE=Brain;
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).
CC -!- FUNCTION: May be involved in spermatogenesis.
CC {ECO:0000250|UniProtKB:Q810M1}.
CC -!- INTERACTION:
CC Q6V702; Q16236: NFE2L2; NbExp=3; IntAct=EBI-25429087, EBI-2007911;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q810M1}. Nucleus
CC {ECO:0000250|UniProtKB:Q810M1}. Note=Mainly cytoplasmic.
CC {ECO:0000250|UniProtKB:Q810M1}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=2;
CC IsoId=Q6V702-2; Sequence=Displayed;
CC Name=1;
CC IsoId=Q6V702-1; Sequence=VSP_037233;
CC Name=3;
CC IsoId=Q6V702-3; Sequence=VSP_037234, VSP_037235;
CC -!- MISCELLANEOUS: [Isoform 3]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
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DR EMBL; AY349359; AAQ56723.1; -; mRNA.
DR EMBL; AK128642; BAC87545.1; -; mRNA.
DR EMBL; AC021127; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093876; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093883; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC098822; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC105917; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471057; EAX05864.1; -; Genomic_DNA.
DR EMBL; BC034296; AAH34296.1; -; mRNA.
DR CCDS; CCDS3587.1; -. [Q6V702-2]
DR CCDS; CCDS56336.1; -. [Q6V702-1]
DR RefSeq; NP_001193926.1; NM_001206997.1. [Q6V702-1]
DR RefSeq; NP_689983.2; NM_152770.2. [Q6V702-2]
DR AlphaFoldDB; Q6V702; -.
DR SMR; Q6V702; -.
DR BioGRID; 129077; 11.
DR IntAct; Q6V702; 1.
DR STRING; 9606.ENSP00000425786; -.
DR iPTMnet; Q6V702; -.
DR PhosphoSitePlus; Q6V702; -.
DR BioMuta; C4orf22; -.
DR DMDM; 296439464; -.
DR MassIVE; Q6V702; -.
DR PeptideAtlas; Q6V702; -.
DR PRIDE; Q6V702; -.
DR ProteomicsDB; 17485; -.
DR ProteomicsDB; 67716; -. [Q6V702-2]
DR ProteomicsDB; 67717; -. [Q6V702-1]
DR ProteomicsDB; 67718; -. [Q6V702-3]
DR Antibodypedia; 51658; 108 antibodies from 16 providers.
DR DNASU; 255119; -.
DR Ensembl; ENST00000358105.8; ENSP00000350818.3; ENSG00000197826.12. [Q6V702-2]
DR Ensembl; ENST00000508675.1; ENSP00000425786.1; ENSG00000197826.12. [Q6V702-1]
DR GeneID; 255119; -.
DR KEGG; hsa:255119; -.
DR MANE-Select; ENST00000358105.8; ENSP00000350818.3; NM_152770.3; NP_689983.2.
DR UCSC; uc003hmf.3; human. [Q6V702-2]
DR CTD; 255119; -.
DR DisGeNET; 255119; -.
DR GeneCards; CFAP299; -.
DR HGNC; HGNC:28554; CFAP299.
DR HPA; ENSG00000197826; Group enriched (fallopian tube, testis).
DR neXtProt; NX_Q6V702; -.
DR OpenTargets; ENSG00000197826; -.
DR PharmGKB; PA145008853; -.
DR VEuPathDB; HostDB:ENSG00000197826; -.
DR eggNOG; ENOG502QSP8; Eukaryota.
DR GeneTree; ENSGT00390000016547; -.
DR HOGENOM; CLU_070912_0_0_1; -.
DR InParanoid; Q6V702; -.
DR OMA; NYQEYLH; -.
DR OrthoDB; 1202447at2759; -.
DR PhylomeDB; Q6V702; -.
DR TreeFam; TF323286; -.
DR PathwayCommons; Q6V702; -.
DR SignaLink; Q6V702; -.
DR BioGRID-ORCS; 255119; 9 hits in 1037 CRISPR screens.
DR ChiTaRS; C4orf22; human.
DR GenomeRNAi; 255119; -.
DR Pharos; Q6V702; Tdark.
DR PRO; PR:Q6V702; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q6V702; protein.
DR Bgee; ENSG00000197826; Expressed in bronchial epithelial cell and 121 other tissues.
DR ExpressionAtlas; Q6V702; baseline and differential.
DR Genevisible; Q6V702; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR InterPro; IPR027887; DUF4464.
DR PANTHER; PTHR33588; PTHR33588; 1.
DR Pfam; PF14713; DUF4464; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Nucleus; Reference proteome.
FT CHAIN 1..233
FT /note="Cilia- and flagella-associated protein 299"
FT /id="PRO_0000301955"
FT VAR_SEQ 111
FT /note="S -> SLNQQETDAAHILKKQLA (in isoform 1)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_037233"
FT VAR_SEQ 112..156
FT /note="SVIFIRDRNSHGQEISGYIDYAHRLKTEDFEVYFTGKKRLLPRPT -> AGV
FT QWHHLGSLQPLPPGFKEFSCFSLPSGWDYRHAPPHPVRDLYS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_037234"
FT VAR_SEQ 157..233
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_037235"
FT VARIANT 138
FT /note="T -> M (in dbSNP:rs11947742)"
FT /id="VAR_034913"
FT VARIANT 220
FT /note="V -> I (in dbSNP:rs1052325)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1,
FT ECO:0000269|Ref.4"
FT /id="VAR_034914"
FT CONFLICT 68
FT /note="A -> V (in Ref. 1; AAQ56723)"
FT /evidence="ECO:0000305"
FT CONFLICT 119
FT /note="R -> G (in Ref. 1; AAQ56723)"
FT /evidence="ECO:0000305"
FT CONFLICT Q6V702-1:122
FT /note="I -> T (in Ref. 1; AAQ56723)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 233 AA; 26869 MW; D57F4BA59DDC2D65 CRC64;
MDQEEGLKAL DNIVTQFNAY EDFLDSQITT VDLYYLEDET LARQLVELGY RGTGERVKRE
DFEARKAAIE IARLAERAQQ KTLTSAGKDL QDNFLTALAM REEDNRSGKL SSVIFIRDRN
SHGQEISGYI DYAHRLKTED FEVYFTGKKR LLPRPTDISF YNWDADIAVS NSSPNYQVIA
DNPEGLLFRY KRDRKILNVD PKAQPGDNST RITILTELYV QAVIFDHISR RKT
