CCD50_HUMAN
ID CCD50_HUMAN Reviewed; 306 AA.
AC Q8IVM0; Q86VH7;
DT 16-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 153.
DE RecName: Full=Coiled-coil domain-containing protein 50;
DE AltName: Full=Protein Ymer;
GN Name=CCDC50; Synonyms=C3orf6;
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 [MRNA] (ISOFORMS 1 AND 2), AND TISSUE SPECIFICITY.
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] (ISOFORM 1).
RC TISSUE=Skin;
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 [3]
RP FUNCTION, AND PHOSPHORYLATION.
RX PubMed=15314609; DOI=10.1038/nbt1005;
RA Blagoev B., Ong S.-E., Kratchmarova I., Mann M.;
RT "Temporal analysis of phosphotyrosine-dependent signaling networks by
RT quantitative proteomics.";
RL Nat. Biotechnol. 22:1139-1145(2004).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in signaling
RT networks.";
RL Cell 127:635-648(2006).
RN [5]
RP INVOLVEMENT IN DFNA44.
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 [6]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [7]
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 [8]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
RN [9]
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).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-5, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
CC -!- FUNCTION: Involved in EGFR signaling. {ECO:0000269|PubMed:15314609}.
CC -!- SUBUNIT: Interacts with RNF126. {ECO:0000269|PubMed:23418353}.
CC -!- INTERACTION:
CC Q8IVM0; Q96B67: ARRDC3; NbExp=3; IntAct=EBI-723996, EBI-2875665;
CC Q8IVM0; Q6GQQ9: OTUD7B; NbExp=5; IntAct=EBI-723996, EBI-527784;
CC Q8IVM0; Q13546: RIPK1; NbExp=2; IntAct=EBI-723996, EBI-358507;
CC Q8IVM0; O76064: RNF8; NbExp=3; IntAct=EBI-723996, EBI-373337;
CC Q8IVM0; Q99961: SH3GL1; NbExp=3; IntAct=EBI-723996, EBI-697911;
CC Q8IVM0; P0CG47: UBB; NbExp=2; IntAct=EBI-723996, EBI-413034;
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Note=Associated with microtubules of
CC the cytoskeleton and mitotic apparatus. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=Short;
CC IsoId=Q8IVM0-1; Sequence=Displayed;
CC Name=2; Synonyms=Long;
CC IsoId=Q8IVM0-2; Sequence=VSP_014985;
CC -!- TISSUE SPECIFICITY: Isoform 1 and isoform 2 are coexpressed in
CC placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected
CC in skeletal muscle, brain and heart. {ECO:0000269|PubMed:14527723}.
CC -!- PTM: Phosphorylated on tyrosine residues.
CC {ECO:0000269|PubMed:15314609}.
CC -!- DISEASE: Deafness, autosomal dominant, 44 (DFNA44) [MIM:607453]: A form
CC of non-syndromic deafness characterized by initially moderate hearing
CC loss that affects mainly low to mid frequencies. Later, it progresses
CC to involve all the frequencies and leads to a profound hearing loss by
CC the 6th decade. {ECO:0000269|PubMed:17503326}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: Found in a critical region of hereditary spastic
CC paraplegia (HSP) SPG14 locus. No causative CCDC50 mutations were found
CC in HSP families.
CC -!- MISCELLANEOUS: [Isoform 1]: Major isoform.
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DR EMBL; AJ416916; CAC95196.1; -; mRNA.
DR EMBL; AJ557013; CAD89526.1; -; mRNA.
DR EMBL; BC065004; AAH65004.1; -; mRNA.
DR CCDS; CCDS33912.1; -. [Q8IVM0-2]
DR CCDS; CCDS33913.1; -. [Q8IVM0-1]
DR RefSeq; NP_777568.1; NM_174908.3. [Q8IVM0-1]
DR RefSeq; NP_848018.1; NM_178335.2. [Q8IVM0-2]
DR PDB; 6LAN; X-ray; 1.41 A; A=170-178.
DR PDBsum; 6LAN; -.
DR AlphaFoldDB; Q8IVM0; -.
DR SMR; Q8IVM0; -.
DR BioGRID; 127431; 55.
DR IntAct; Q8IVM0; 21.
DR iPTMnet; Q8IVM0; -.
DR PhosphoSitePlus; Q8IVM0; -.
DR BioMuta; CCDC50; -.
DR DMDM; 73619722; -.
DR EPD; Q8IVM0; -.
DR jPOST; Q8IVM0; -.
DR MassIVE; Q8IVM0; -.
DR MaxQB; Q8IVM0; -.
DR PeptideAtlas; Q8IVM0; -.
DR PRIDE; Q8IVM0; -.
DR ProteomicsDB; 70741; -. [Q8IVM0-1]
DR ProteomicsDB; 70742; -. [Q8IVM0-2]
DR Antibodypedia; 722; 237 antibodies from 30 providers.
DR DNASU; 152137; -.
DR Ensembl; ENST00000392455.9; ENSP00000376249.4; ENSG00000152492.15. [Q8IVM0-2]
DR Ensembl; ENST00000392456.4; ENSP00000376250.4; ENSG00000152492.15. [Q8IVM0-1]
DR GeneID; 152137; -.
DR KEGG; hsa:152137; -.
DR MANE-Select; ENST00000392455.9; ENSP00000376249.4; NM_178335.3; NP_848018.1. [Q8IVM0-2]
DR UCSC; uc003fsv.4; human. [Q8IVM0-1]
DR CTD; 152137; -.
DR DisGeNET; 152137; -.
DR GeneCards; CCDC50; -.
DR GeneReviews; CCDC50; -.
DR HGNC; HGNC:18111; CCDC50.
DR HPA; ENSG00000152492; Low tissue specificity.
DR MalaCards; CCDC50; -.
DR MIM; 607453; phenotype.
DR MIM; 611051; gene.
DR neXtProt; NX_Q8IVM0; -.
DR OpenTargets; ENSG00000152492; -.
DR Orphanet; 90635; Autosomal dominant non-syndromic sensorineural deafness type DFNA.
DR PharmGKB; PA25902; -.
DR VEuPathDB; HostDB:ENSG00000152492; -.
DR eggNOG; ENOG502S0GI; Eukaryota.
DR GeneTree; ENSGT00390000011058; -.
DR HOGENOM; CLU_032371_0_0_1; -.
DR InParanoid; Q8IVM0; -.
DR OMA; TRNWEKH; -.
DR OrthoDB; 1110962at2759; -.
DR PhylomeDB; Q8IVM0; -.
DR TreeFam; TF325391; -.
DR PathwayCommons; Q8IVM0; -.
DR SignaLink; Q8IVM0; -.
DR SIGNOR; Q8IVM0; -.
DR BioGRID-ORCS; 152137; 8 hits in 1080 CRISPR screens.
DR ChiTaRS; CCDC50; human.
DR GeneWiki; CCDC50; -.
DR GenomeRNAi; 152137; -.
DR Pharos; Q8IVM0; Tbio.
DR PRO; PR:Q8IVM0; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8IVM0; protein.
DR Bgee; ENSG00000152492; Expressed in oviduct epithelium and 182 other tissues.
DR Genevisible; Q8IVM0; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0031625; F:ubiquitin protein ligase binding; IPI:UniProtKB.
DR GO; GO:0007605; P:sensory perception of sound; IMP:MGI.
DR InterPro; IPR039303; CCDC50.
DR InterPro; IPR029311; CCDC50_N.
DR PANTHER; PTHR22115; PTHR22115; 2.
DR Pfam; PF15295; CCDC50_N; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Alternative splicing; Coiled coil; Cytoplasm;
KW Deafness; Non-syndromic deafness; Phosphoprotein; Reference proteome.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:19413330,
FT ECO:0007744|PubMed:22814378"
FT CHAIN 2..306
FT /note="Coiled-coil domain-containing protein 50"
FT /id="PRO_0000066307"
FT REGION 215..306
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 63..130
FT /evidence="ECO:0000255"
FT COMPBIAS 215..263
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 278..292
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:19413330,
FT ECO:0007744|PubMed:22814378"
FT MOD_RES 5
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 149
FT /note="G -> GDQPGSRRARELGSGFSRPCRLQRDGKTVKHKKEKPEHPLENLEEPE
FT QHCSSKRSLSSSSSGKGRDNPHINNEQHERKRSTQERPRRPLLPTISGEVFLSTECDDW
FT ETKINHQTRNWEKQSRHQDRLSPKSSQKAGLHCKEVVYGRDHGQGEHRKRRHRPRTPPF
FT SESEEQLHLHDA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14527723"
FT /id="VSP_014985"
FT VARIANT 121
FT /note="L -> F (in dbSNP:rs35380043)"
FT /id="VAR_050754"
FT VARIANT 156
FT /note="M -> T (in dbSNP:rs293813)"
FT /id="VAR_050755"
SQ SEQUENCE 306 AA; 35822 MW; 3E935B62225CC93F CRC64;
MAEVSIDQSK LPGVKEVCRD FAVLEDHTLA HSLQEQEIEH HLASNVQRNR LVQHDLQVAK
QLQEEDLKAQ AQLQKRYKDL EQQDCEIAQE IQEKLAIEAE RRRIQEKKDE DIARLLQEKE
LQEEKKRKKH FPEFPATRAY ADSYYYEDGG MKPRVMKEAV STPSRMAHRD QEWYDAEIAR
KLQEEELLAT QVDMRAAQVA QDEEIARLLM AEEKKAYKKA KEREKSSLDK RKQDPEWKPK
TAKAANSKSK ESDEPHHSKN ERPARPPPPI MTDGEDADYT HFTNQQSSTR HFSKSESSHK
GFHYKH
