ID   CCD50_MOUSE             Reviewed;         305 AA.
AC   Q810U5; A6X929; Q3TRW1; Q8BP82; Q9CZT1; Q9D436;
DT   16-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-2003, sequence version 1.
DT   24-JAN-2024, entry version 134.
DE   RecName: Full=Coiled-coil domain-containing protein 50;
DE   AltName: Full=Protein Ymer;
GN   Name=Ccdc50;
OS   Mus musculus (Mouse).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC   Murinae; Mus; Mus.
OX   NCBI_TaxID=10090;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC   STRAIN=CD-1; TISSUE=Liver;
RX   PubMed=14527723; DOI=10.1016/s0378-1119(03)00710-8;
RA   Vazza G., Picelli S., Bozzato A., Mostacciuolo M.L.;
RT   "Identification and characterization of C3orf6, a new conserved human gene
RT   mapping to chromosome 3q28.";
RL   Gene 314:113-120(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
RC   STRAIN=C57BL/6J; TISSUE=Bone marrow, Embryo, and Testis;
RX   PubMed=16141072; DOI=10.1126/science.1112014;
RA   Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA   Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA   Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA   Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA   Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA   Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA   Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA   Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA   Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA   Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA   Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA   Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA   Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA   Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA   Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA   Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA   Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA   Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA   Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA   Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA   Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA   Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA   Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA   Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA   Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA   van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA   Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA   Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA   Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA   Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA   Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA   Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA   Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA   Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT   "The transcriptional landscape of the mammalian genome.";
RL   Science 309:1559-1563(2005).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC   STRAIN=C57BL/6J;
RX   PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA   Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA   Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA   Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA   Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA   Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA   Eichler E.E., Ponting C.P.;
RT   "Lineage-specific biology revealed by a finished genome assembly of the
RT   mouse.";
RL   PLoS Biol. 7:E1000112-E1000112(2009).
RN   [4]
RP   SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX   PubMed=17503326; DOI=10.1086/518311;
RA   Modamio-Hoeybjoer S., Mencia A., Goodyear R., del Castillo I.,
RA   Richardson G., Moreno F., Moreno-Pelayo M.A.;
RT   "A mutation in CCDC50, a gene encoding an effector of epidermal growth
RT   factor-mediated cell signaling, causes progressive hearing loss.";
RL   Am. J. Hum. Genet. 80:1076-1089(2007).
RN   [5]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Brain, Kidney, Lung, Pancreas, Spleen, and Testis;
RX   PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA   Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA   Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT   "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL   Cell 143:1174-1189(2010).
RN   [6]
RP   INTERACTION WITH RNF126.
RX   PubMed=23418353; DOI=10.1242/jcs.116129;
RA   Smith C.J., Berry D.M., McGlade C.J.;
RT   "The E3 ubiquitin ligases RNF126 and Rabring7 regulate endosomal sorting of
RT   the epidermal growth factor receptor.";
RL   J. Cell Sci. 126:1366-1380(2013).
CC   -!- FUNCTION: Involved in EGFR signaling. {ECO:0000250}.
CC   -!- SUBUNIT: Interacts with RNF126. {ECO:0000269|PubMed:23418353}.
CC   -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17503326}.
CC       Note=Associated with microtubules of the cytoskeleton and mitotic
CC       apparatus.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q810U5-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q810U5-2; Sequence=VSP_014986;
CC       Name=3;
CC         IsoId=Q810U5-3; Sequence=VSP_014987;
CC   -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:17503326}.
CC   -!- DEVELOPMENTAL STAGE: At 14.5 dpc, strong punctate expression in the
CC       otic mesenchyme. Detected in the cells lining the lumen of the
CC       primitive cochlear duct and in the nerve fibers of the spiral ganglion,
CC       as well as in the nerve fibers invading the cochlear epithelium. At
CC       17.5 dpc, detected only in the mesenchyme around the cochlear duct. 2
CC       days after birth (P2), the mesenchymal expression becomes weaker,
CC       except in the region of the spiral limbus, while expression is observed
CC       for the first time in the apical region of the developing pillar cells
CC       (PCs). Also observed in the cytoplasm of outer hair cells, in their
CC       innervating nerve fibers and in the marginal cells of stria vascularis.
CC       At P9 and P12, detected in the stria vascularis and strongly through
CC       the entire length of the inner and outer PCs. At these stages, in
CC       tissues of mesenchymal origin, restricted to the spiral limbus and the
CC       spiral ligament. At P14 and P16, strong expression is maintained in the
CC       PCs and in the marginal cells of the stria vascularis, weak expression
CC       in the spiral limbus and ligament. Also detected in Deiter's cells. At
CC       P19 and P22, intense expression in the PCs and stria vascularis, as
CC       well as in the cell bodies and processes of Deiter's cells. Weak
CC       expression in the spiral limbus and ligament. At P31, when the inner
CC       ear is functionally mature, expressed only in the PCs and stria
CC       vascularis. At P69, strong expression in the PCs and less intense in
CC       stria vascularis. In the vestibular maculae and the cristae ampullaris,
CC       expression similar to that observed in the cochlea: strong signal in
CC       the mesenchyme at the initial embryonic stages that progressively
CC       becomes weaker and is less prominent in the adult (P33). At 17.5 dpc
CC       and P2, observed in nerve fibers innervating the sensory epithelia.
CC       Expression in the vestibular epithelium starts at 17.5 dpc and is
CC       readily detected at P2. Later expression increases and persists in
CC       adult stages in which it is restricted to the apical cytoplasm of the
CC       epithelial cells (at protein level). {ECO:0000269|PubMed:17503326}.
CC   -!- PTM: Phosphorylated on tyrosine residues. {ECO:0000250}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=BAB28089.1; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; AJ534985; CAD59434.1; -; mRNA.
DR   EMBL; AK012190; BAB28089.1; ALT_FRAME; mRNA.
DR   EMBL; AK016827; BAB30453.1; -; mRNA.
DR   EMBL; AK077557; BAC36861.1; -; mRNA.
DR   EMBL; AK151672; BAE30598.1; -; mRNA.
DR   EMBL; AK162434; BAE36915.1; -; mRNA.
DR   EMBL; CT010568; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS37305.1; -. [Q810U5-1]
DR   CCDS; CCDS37306.1; -. [Q810U5-2]
DR   RefSeq; NP_001020786.1; NM_001025615.3. [Q810U5-2]
DR   RefSeq; NP_001276365.1; NM_001289436.1.
DR   RefSeq; NP_080478.2; NM_026202.4. [Q810U5-1]
DR   AlphaFoldDB; Q810U5; -.
DR   SMR; Q810U5; -.
DR   BioGRID; 212232; 7.
DR   STRING; 10090.ENSMUSP00000097604; -.
DR   iPTMnet; Q810U5; -.
DR   PhosphoSitePlus; Q810U5; -.
DR   EPD; Q810U5; -.
DR   MaxQB; Q810U5; -.
DR   PaxDb; 10090-ENSMUSP00000097604; -.
DR   ProteomicsDB; 281308; -. [Q810U5-1]
DR   ProteomicsDB; 281309; -. [Q810U5-2]
DR   ProteomicsDB; 281310; -. [Q810U5-3]
DR   Pumba; Q810U5; -.
DR   Antibodypedia; 722; 267 antibodies from 30 providers.
DR   DNASU; 67501; -.
DR   Ensembl; ENSMUST00000039443.14; ENSMUSP00000038509.8; ENSMUSG00000038127.16. [Q810U5-3]
DR   Ensembl; ENSMUST00000096127.11; ENSMUSP00000093841.5; ENSMUSG00000038127.16. [Q810U5-2]
DR   Ensembl; ENSMUST00000100026.10; ENSMUSP00000097604.4; ENSMUSG00000038127.16. [Q810U5-1]
DR   GeneID; 67501; -.
DR   KEGG; mmu:67501; -.
DR   UCSC; uc007yvn.3; mouse. [Q810U5-1]
DR   AGR; MGI:1914751; -.
DR   CTD; 152137; -.
DR   MGI; MGI:1914751; Ccdc50.
DR   VEuPathDB; HostDB:ENSMUSG00000038127; -.
DR   eggNOG; ENOG502S0GI; Eukaryota.
DR   GeneTree; ENSGT00390000011058; -.
DR   HOGENOM; CLU_032371_0_0_1; -.
DR   InParanoid; Q810U5; -.
DR   OrthoDB; 5355591at2759; -.
DR   PhylomeDB; Q810U5; -.
DR   TreeFam; TF325391; -.
DR   BioGRID-ORCS; 67501; 0 hits in 76 CRISPR screens.
DR   ChiTaRS; Ccdc50; mouse.
DR   PRO; PR:Q810U5; -.
DR   Proteomes; UP000000589; Chromosome 16.
DR   RNAct; Q810U5; Protein.
DR   Bgee; ENSMUSG00000038127; Expressed in embryonic post-anal tail and 254 other cell types or tissues.
DR   ExpressionAtlas; Q810U5; baseline and differential.
DR   GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR   GO; GO:0005829; C:cytosol; ISO:MGI.
DR   GO; GO:0015630; C:microtubule cytoskeleton; IDA:MGI.
DR   GO; GO:0031625; F:ubiquitin protein ligase binding; ISO:MGI.
DR   GO; GO:0007605; P:sensory perception of sound; ISO:MGI.
DR   InterPro; IPR039303; CCDC50.
DR   InterPro; IPR029311; CCDC50_N.
DR   PANTHER; PTHR22115; C3ORF6 PROTEIN-RELATED; 1.
DR   PANTHER; PTHR22115:SF1; COILED-COIL DOMAIN-CONTAINING PROTEIN 50; 1.
DR   Pfam; PF15295; CCDC50_N; 1.
DR   Genevisible; Q810U5; MM.
PE   1: Evidence at protein level;
KW   Acetylation; Alternative splicing; Coiled coil; Cytoplasm; Phosphoprotein;
KW   Reference proteome.
FT   INIT_MET        1
FT                   /note="Removed"
FT                   /evidence="ECO:0000250|UniProtKB:Q8IVM0"
FT   CHAIN           2..305
FT                   /note="Coiled-coil domain-containing protein 50"
FT                   /id="PRO_0000066308"
FT   REGION          122..142
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          218..305
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          86..130
FT                   /evidence="ECO:0000255"
FT   COMPBIAS        218..262
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        276..296
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         2
FT                   /note="N-acetylalanine"
FT                   /evidence="ECO:0000250|UniProtKB:Q8IVM0"
FT   MOD_RES         5
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q8IVM0"
FT   VAR_SEQ         189..203
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:16141072"
FT                   /id="VSP_014986"
FT   VAR_SEQ         265..305
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:16141072"
FT                   /id="VSP_014987"
FT   CONFLICT        75
FT                   /note="K -> N (in Ref. 2; BAC36861)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        153
FT                   /note="P -> Q (in Ref. 2; BAC36861)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        178
FT                   /note="I -> N (in Ref. 2; BAC36861)"
FT                   /evidence="ECO:0000305"
FT   CONFLICT        300
FT                   /note="G -> C (in Ref. 2; BAB30453)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   305 AA;  35321 MW;  A49B28050941D82F CRC64;
     MADVSVDQSK LPGVKEVCRD FAVLEDHTLA HSLQEQEIEH HLASNIQRNR LVQHDLQVAK
     QLQEEDLKAQ AQLQKRYKAL EQHDCEIAQE IQEKLTIEAE RRRIQEKKDE DIARLLQEKE
     LQEEKRRKKH TPEFSGGSVF GDNYYHEDGG MKPRGIKEAV STPARASHRD QEWYDAEIAR
     KLQEEELLAT HVDMRAAQVA QDEEIARLLM AEEKKAYKKA KEREKSSLDK RKHDPECKLK
     AKSAHSKSKE GDEAHRSKID RPSRPPPPTM MGLEDTDPTH FTNQHSTTWH LPKSESSQKG
     FHNKQ
//