CF119_HUMAN
ID CF119_HUMAN Reviewed; 331 AA.
AC A1A4V9; A1A4V8; F5GX13; Q569G2;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 23-JAN-2007, sequence version 1.
DT 03-AUG-2022, entry version 105.
DE RecName: Full=Cilia- and flagella-associated protein 119 {ECO:0000305};
DE AltName: Full=Coiled-coil domain-containing protein 189 {ECO:0000312|HGNC:HGNC:28078};
GN Name=CFAP119 {ECO:0000312|HGNC:HGNC:28078};
GN Synonyms=C16orf93 {ECO:0000312|HGNC:HGNC:28078},
GN CCDC189 {ECO:0000312|HGNC:HGNC:28078};
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 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 [2]
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3 AND 4).
RC TISSUE=Testis;
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 -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum
CC {ECO:0000250|UniProtKB:B0BMZ6}. Cytoplasmic vesicle, secretory vesicle,
CC acrosome {ECO:0000250|UniProtKB:B0BMZ6}. Cytoplasm
CC {ECO:0000250|UniProtKB:B0BMZ6}. Note=In elongated spermatids, enriched
CC in the principal piece of flagella where it is peri-axonemal.
CC Disappears from sperm heads upon acrosome reaction.
CC {ECO:0000250|UniProtKB:B0BMZ6}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=A1A4V9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A1A4V9-2; Sequence=VSP_031808;
CC Name=3;
CC IsoId=A1A4V9-3; Sequence=VSP_031807;
CC Name=4;
CC IsoId=A1A4V9-4; Sequence=VSP_045828, VSP_045829;
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DR EMBL; AC106886; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471192; EAW52202.1; -; Genomic_DNA.
DR EMBL; CH471192; EAW52206.1; -; Genomic_DNA.
DR EMBL; BC073881; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC092491; AAH92491.1; -; mRNA.
DR EMBL; BC128128; AAI28129.1; -; mRNA.
DR EMBL; BC128129; AAI28130.1; -; mRNA.
DR CCDS; CCDS32434.2; -. [A1A4V9-1]
DR CCDS; CCDS55993.1; -. [A1A4V9-4]
DR RefSeq; NP_001014979.2; NM_001014979.2. [A1A4V9-1]
DR RefSeq; NP_001182549.1; NM_001195620.1. [A1A4V9-4]
DR AlphaFoldDB; A1A4V9; -.
DR SMR; A1A4V9; -.
DR BioGRID; 124769; 4.
DR IntAct; A1A4V9; 1.
DR STRING; 9606.ENSP00000437532; -.
DR iPTMnet; A1A4V9; -.
DR PhosphoSitePlus; A1A4V9; -.
DR BioMuta; CCDC189; -.
DR MassIVE; A1A4V9; -.
DR MaxQB; A1A4V9; -.
DR PaxDb; A1A4V9; -.
DR PeptideAtlas; A1A4V9; -.
DR PRIDE; A1A4V9; -.
DR ProteomicsDB; 24281; -.
DR ProteomicsDB; 95; -. [A1A4V9-1]
DR ProteomicsDB; 96; -. [A1A4V9-2]
DR ProteomicsDB; 97; -. [A1A4V9-3]
DR Antibodypedia; 66032; 37 antibodies from 12 providers.
DR DNASU; 90835; -.
DR Ensembl; ENST00000543610.6; ENSP00000437532.1; ENSG00000196118.12. [A1A4V9-1]
DR Ensembl; ENST00000545825.1; ENSP00000441164.1; ENSG00000196118.12. [A1A4V9-4]
DR GeneID; 90835; -.
DR KEGG; hsa:90835; -.
DR MANE-Select; ENST00000543610.6; ENSP00000437532.1; NM_001014979.3; NP_001014979.2.
DR UCSC; uc002dzm.4; human. [A1A4V9-1]
DR CTD; 90835; -.
DR DisGeNET; 90835; -.
DR GeneCards; CCDC189; -.
DR HGNC; HGNC:28078; CFAP119.
DR HPA; ENSG00000196118; Tissue enhanced (testis).
DR MIM; 618318; gene.
DR neXtProt; NX_A1A4V9; -.
DR OpenTargets; ENSG00000196118; -.
DR VEuPathDB; HostDB:ENSG00000196118; -.
DR eggNOG; ENOG502RXPT; Eukaryota.
DR GeneTree; ENSGT00940000154323; -.
DR HOGENOM; CLU_1517426_0_0_1; -.
DR InParanoid; A1A4V9; -.
DR OMA; VEECYHY; -.
DR PhylomeDB; A1A4V9; -.
DR TreeFam; TF343725; -.
DR PathwayCommons; A1A4V9; -.
DR SignaLink; A1A4V9; -.
DR BioGRID-ORCS; 90835; 11 hits in 1041 CRISPR screens.
DR ChiTaRS; CCDC189; human.
DR GenomeRNAi; 90835; -.
DR Pharos; A1A4V9; Tdark.
DR PRO; PR:A1A4V9; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; A1A4V9; protein.
DR Bgee; ENSG00000196118; Expressed in right uterine tube and 126 other tissues.
DR ExpressionAtlas; A1A4V9; baseline and differential.
DR Genevisible; A1A4V9; HS.
DR GO; GO:0001669; C:acrosomal vesicle; ISS:UniProtKB.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0097228; C:sperm principal piece; ISS:UniProtKB.
DR InterPro; IPR032727; CLAMP.
DR PANTHER; PTHR28457; PTHR28457; 1.
DR Pfam; PF14769; CLAMP; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell projection; Cilium; Coiled coil; Cytoplasm;
KW Cytoplasmic vesicle; Flagellum; Phosphoprotein; Reference proteome.
FT CHAIN 1..331
FT /note="Cilia- and flagella-associated protein 119"
FT /id="PRO_0000321842"
FT REGION 236..271
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 309..331
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 286..317
FT /evidence="ECO:0000255"
FT COMPBIAS 238..258
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 34
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q6NZQ0"
FT VAR_SEQ 1..228
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031807"
FT VAR_SEQ 1..68
FT /note="MLNRKTSHFLGMRVQSELEHLSELRREAGKDRSSVHGSAARTRASVRTQWTT
FT AAAAKADEDPGANLFP -> MASYSGFSGLLEIRYGPGHRSCLPQFAFFPQ (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_031808"
FT VAR_SEQ 157..176
FT /note="ATPLGNVEECYRYFTSVLFC -> GERGQLPGLSPREKRNRAWH (in
FT isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045828"
FT VAR_SEQ 177..330
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045829"
FT CONFLICT 244
FT /note="K -> E (in Ref. 3; AAH92491)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 331 AA; 37921 MW; 1E91B401106D6CDC CRC64;
MLNRKTSHFL GMRVQSELEH LSELRREAGK DRSSVHGSAA RTRASVRTQW TTAAAAKADE
DPGANLFPPP LPRPRICMWK YLDVHSMHQL EKTTNAEMRE VLAELLELGC PEQSLRDAIT
LDLFCHALIF CRQQGFSLEQ TSAACALLQD LHKACIATPL GNVEECYRYF TSVLFCHGVR
RPPFSIDLFK EEQLLALEDY VVNTYFRHFK LYKYVFTPQV RLDLSLTYMG LQPPKLWPES
ETEKEESKEM EEQAVTPQKE ELETVAPPEP EPSHIHVLRA YIKTQVNKEL EQLQGLVEER
LKASEERLSS KLTALERPFQ LPPGKGKSKT K
