CFA20_HUMAN
ID CFA20_HUMAN Reviewed; 193 AA.
AC Q9Y6A4;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-NOV-1999, sequence version 1.
DT 03-AUG-2022, entry version 147.
DE RecName: Full=Cilia- and flagella-associated protein 20;
DE AltName: Full=Basal body up-regulated protein 22;
DE AltName: Full=Transcription factor IIB;
GN Name=CFAP20 {ECO:0000312|HGNC:HGNC:29523}; Synonyms=BUG22, C16orf80, GTL3;
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].
RA Zhang M., Yu L., Li N.G., Zhou Y., Zheng L.H., Zhao S.Y.;
RT "Cloning of a novel human cDNA homologous to murine evolutionary conserved
RT transcript.";
RL Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Pituitary;
RA Peng Y., Song H., Dai M., Huang Q., Mao Y., Zhang Q., Mao M., Fu G.,
RA Luo M., Chen J., Hu R.;
RT "Human transcription factor IIB mRNA, complete cds.";
RL Submitted (SEP-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15616553; DOI=10.1038/nature03187;
RA Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA Myers R.M., Rubin E.M., Pennacchio L.A.;
RT "The sequence and analysis of duplication-rich human chromosome 16.";
RL Nature 432:988-994(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Muscle;
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 [5]
RP SUBCELLULAR LOCATION.
RX PubMed=20118210; DOI=10.1128/ec.00368-09;
RA Laligne C., Klotz C., de Loubresse N.G., Lemullois M., Hori M.,
RA Laurent F.X., Papon J.F., Louis B., Cohen J., Koll F.;
RT "Bug22p, a conserved centrosomal/ciliary protein also present in higher
RT plants, is required for an effective ciliary stroke in Paramecium.";
RL Eukaryot. Cell 9:645-655(2010).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [7]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=24414207; DOI=10.1242/bio.20146577;
RA Mendes Maia T., Gogendeau D., Pennetier C., Janke C., Basto R.;
RT "Bug22 influences cilium morphology and the post-translational modification
RT of ciliary microtubules.";
RL Biol. Open 3:138-151(2014).
CC -!- FUNCTION: Cilium- and flagellum-specific protein that plays a role in
CC axonemal structure organization and motility. Involved in the
CC regulation of the size and morphology of cilia (PubMed:24414207).
CC Required for axonemal microtubules polyglutamylation (PubMed:24414207).
CC {ECO:0000269|PubMed:24414207}.
CC -!- INTERACTION:
CC Q9Y6A4; Q9Y2Y0: ARL2BP; NbExp=4; IntAct=EBI-1046872, EBI-3449344;
CC Q9Y6A4; Q8N2M8: CLASRP; NbExp=4; IntAct=EBI-1046872, EBI-751069;
CC Q9Y6A4; Q5S007: LRRK2; NbExp=3; IntAct=EBI-1046872, EBI-5323863;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24414207}. Cytoplasm,
CC cytoskeleton, microtubule organizing center, centrosome, centriole
CC {ECO:0000269|PubMed:24414207}. Cytoplasm, cytoskeleton, cilium basal
CC body {ECO:0000269|PubMed:24414207}. Cytoplasm, cytoskeleton, cilium
CC axoneme {ECO:0000269|PubMed:24414207}. Note=Microtubule inner protein
CC (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia
CC axoneme. {ECO:0000250|UniProtKB:Q6B857}.
CC -!- SIMILARITY: Belongs to the CFAP20 family. {ECO:0000305}.
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DR EMBL; AF087845; AAP97158.1; -; mRNA.
DR EMBL; AF093680; AAD40382.1; -; mRNA.
DR EMBL; AC009107; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC026771; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC005152; AAH05152.1; -; mRNA.
DR CCDS; CCDS10793.1; -.
DR RefSeq; NP_037374.1; NM_013242.2.
DR AlphaFoldDB; Q9Y6A4; -.
DR SMR; Q9Y6A4; -.
DR BioGRID; 118873; 75.
DR CORUM; Q9Y6A4; -.
DR IntAct; Q9Y6A4; 39.
DR MINT; Q9Y6A4; -.
DR STRING; 9606.ENSP00000262498; -.
DR CarbonylDB; Q9Y6A4; -.
DR iPTMnet; Q9Y6A4; -.
DR PhosphoSitePlus; Q9Y6A4; -.
DR BioMuta; CFAP20; -.
DR DMDM; 74753521; -.
DR EPD; Q9Y6A4; -.
DR jPOST; Q9Y6A4; -.
DR MassIVE; Q9Y6A4; -.
DR MaxQB; Q9Y6A4; -.
DR PaxDb; Q9Y6A4; -.
DR PeptideAtlas; Q9Y6A4; -.
DR PRIDE; Q9Y6A4; -.
DR ProteomicsDB; 86641; -.
DR Antibodypedia; 15216; 119 antibodies from 23 providers.
DR DNASU; 29105; -.
DR Ensembl; ENST00000262498.8; ENSP00000262498.3; ENSG00000070761.8.
DR GeneID; 29105; -.
DR KEGG; hsa:29105; -.
DR MANE-Select; ENST00000262498.8; ENSP00000262498.3; NM_013242.3; NP_037374.1.
DR UCSC; uc002enb.2; human.
DR CTD; 29105; -.
DR DisGeNET; 29105; -.
DR GeneCards; CFAP20; -.
DR HGNC; HGNC:29523; CFAP20.
DR HPA; ENSG00000070761; Low tissue specificity.
DR MIM; 617906; gene.
DR neXtProt; NX_Q9Y6A4; -.
DR OpenTargets; ENSG00000070761; -.
DR PharmGKB; PA162378384; -.
DR VEuPathDB; HostDB:ENSG00000070761; -.
DR eggNOG; KOG3213; Eukaryota.
DR GeneTree; ENSGT00390000004554; -.
DR HOGENOM; CLU_060610_1_1_1; -.
DR InParanoid; Q9Y6A4; -.
DR OMA; TTYISCP; -.
DR OrthoDB; 1213295at2759; -.
DR PhylomeDB; Q9Y6A4; -.
DR TreeFam; TF313405; -.
DR PathwayCommons; Q9Y6A4; -.
DR SignaLink; Q9Y6A4; -.
DR BioGRID-ORCS; 29105; 456 hits in 1062 CRISPR screens.
DR ChiTaRS; CFAP20; human.
DR GenomeRNAi; 29105; -.
DR Pharos; Q9Y6A4; Tbio.
DR PRO; PR:Q9Y6A4; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q9Y6A4; protein.
DR Bgee; ENSG00000070761; Expressed in bronchial epithelial cell and 195 other tissues.
DR ExpressionAtlas; Q9Y6A4; baseline and differential.
DR Genevisible; Q9Y6A4; HS.
DR GO; GO:0005879; C:axonemal microtubule; ISS:UniProtKB.
DR GO; GO:0005814; C:centriole; IDA:UniProtKB.
DR GO; GO:0036064; C:ciliary basal body; IDA:UniProtKB.
DR GO; GO:0005929; C:cilium; IDA:UniProtKB.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0031514; C:motile cilium; IBA:GO_Central.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:2000147; P:positive regulation of cell motility; IDA:UniProtKB.
DR GO; GO:2000253; P:positive regulation of feeding behavior; IDA:UniProtKB.
DR GO; GO:0018095; P:protein polyglutamylation; IMP:UniProtKB.
DR GO; GO:0060296; P:regulation of cilium beat frequency involved in ciliary motility; IDA:UniProtKB.
DR InterPro; IPR040441; CFA20/CFAP20DC.
DR InterPro; IPR007714; CFA20_dom.
DR PANTHER; PTHR12458; PTHR12458; 1.
DR Pfam; PF05018; DUF667; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cilium; Cytoplasm; Cytoskeleton; Microtubule; Nucleus;
KW Reference proteome.
FT CHAIN 1..193
FT /note="Cilia- and flagella-associated protein 20"
FT /id="PRO_0000296398"
SQ SEQUENCE 193 AA; 22774 MW; 82ECDB0D2515BF77 CRC64;
MFKNTFQSGF LSILYSIGSK PLQIWDKKVR NGHIKRITDN DIQSLVLEIE GTNVSTTYIT
CPADPKKTLG IKLPFLVMII KNLKKYFTFE VQVLDDKNVR RRFRASNYQS TTRVKPFICT
MPMRLDDGWN QIQFNLLDFT RRAYGTNYIE TLRVQIHANC RIRRVYFSDR LYSEDELPAE
FKLYLPVQNK AKQ
