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Protein

Coiled-coil domain-containing protein 50

Gene

CCDC50

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in EGFR signaling.1 Publication

GO - Molecular functioni

  • ubiquitin protein ligase binding Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 50
Alternative name(s):
Protein Ymer
Gene namesi
Name:CCDC50
Synonyms:C3orf6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:18111. CCDC50.

Subcellular locationi

  • Cytoplasm

  • Note: Associated with microtubules of the cytoskeleton and mitotic apparatus.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 44 (DFNA44)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA form of non-syndromic deafness characterized by initially moderate hearing loss that affects mainly low to mid frequencies. Later, it progresses to involve all the frequencies and leads to a profound hearing loss by the 6th decade.

See also OMIM:607453

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

MIMi607453. phenotype.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
PharmGKBiPA25902.

Polymorphism and mutation databases

BioMutaiCCDC50.
DMDMi73619722.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed2 Publications
Chaini2 – 306305Coiled-coil domain-containing protein 50PRO_0000066307Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine2 Publications

Post-translational modificationi

Phosphorylated on tyrosine residues.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ8IVM0.
PaxDbiQ8IVM0.
PeptideAtlasiQ8IVM0.
PRIDEiQ8IVM0.

Expressioni

Tissue specificityi

Isoform 1 and isoform 2 are coexpressed in placenta, liver, lung, kidney and pancreas. Only isoform 1 is detected in skeletal muscle, brain and heart.1 Publication

Gene expression databases

BgeeiQ8IVM0.
CleanExiHS_CCDC50.
GenevestigatoriQ8IVM0.

Organism-specific databases

HPAiHPA001336.

Interactioni

Subunit structurei

Interacts with RNF126.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
OTUD7BQ6GQQ95EBI-723996,EBI-527784
RIPK1Q135462EBI-723996,EBI-358507
UBBP0CG472EBI-723996,EBI-413034

Protein-protein interaction databases

BioGridi127431. 6 interactions.
IntActiQ8IVM0. 5 interactions.
MINTiMINT-1392868.
STRINGi9606.ENSP00000376250.

Structurei

3D structure databases

ProteinModelPortaliQ8IVM0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili63 – 13068Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi214 – 25037Lys-richAdd
BLAST
Compositional biasi266 – 2694Poly-Pro

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG85109.
GeneTreeiENSGT00390000011058.
HOGENOMiHOG000290669.
HOVERGENiHBG059995.
InParanoidiQ8IVM0.
OMAiAGLHCKE.
OrthoDBiEOG7JT6VW.
PhylomeDBiQ8IVM0.
TreeFamiTF325391.

Family and domain databases

InterProiIPR029311. CCDC50_N.
[Graphical view]
PfamiPF15295. CCDC50_N. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IVM0-1) [UniParc]FASTAAdd to basket

Also known as: Short

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAEVSIDQSK LPGVKEVCRD FAVLEDHTLA HSLQEQEIEH HLASNVQRNR
60 70 80 90 100
LVQHDLQVAK QLQEEDLKAQ AQLQKRYKDL EQQDCEIAQE IQEKLAIEAE
110 120 130 140 150
RRRIQEKKDE DIARLLQEKE LQEEKKRKKH FPEFPATRAY ADSYYYEDGG
160 170 180 190 200
MKPRVMKEAV STPSRMAHRD QEWYDAEIAR KLQEEELLAT QVDMRAAQVA
210 220 230 240 250
QDEEIARLLM AEEKKAYKKA KEREKSSLDK RKQDPEWKPK TAKAANSKSK
260 270 280 290 300
ESDEPHHSKN ERPARPPPPI MTDGEDADYT HFTNQQSSTR HFSKSESSHK

GFHYKH

Note: Major isoform.

Length:306
Mass (Da):35,822
Last modified:March 1, 2003 - v1
Checksum:i3E935B62225CC93F
GO
Isoform 2 (identifier: Q8IVM0-2) [UniParc]FASTAAdd to basket

Also known as: Long

The sequence of this isoform differs from the canonical sequence as follows:
     149-149: G → GDQPGSRRAR...SEEQLHLHDA

Show »
Length:482
Mass (Da):56,340
Checksum:iAD8FC25D90590BC2
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti121 – 1211L → F.
Corresponds to variant rs35380043 [ dbSNP | Ensembl ].
VAR_050754
Natural varianti156 – 1561M → T.
Corresponds to variant rs293813 [ dbSNP | Ensembl ].
VAR_050755

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei149 – 1491G → GDQPGSRRARELGSGFSRPC RLQRDGKTVKHKKEKPEHPL ENLEEPEQHCSSKRSLSSSS SGKGRDNPHINNEQHERKRS TQERPRRPLLPTISGEVFLS TECDDWETKINHQTRNWEKQ SRHQDRLSPKSSQKAGLHCK EVVYGRDHGQGEHRKRRHRP RTPPFSESEEQLHLHDA in isoform 2. 1 PublicationVSP_014985

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ416916 mRNA. Translation: CAC95196.1.
AJ557013 mRNA. Translation: CAD89526.1.
BC065004 mRNA. Translation: AAH65004.1.
CCDSiCCDS33912.1. [Q8IVM0-2]
CCDS33913.1. [Q8IVM0-1]
RefSeqiNP_777568.1. NM_174908.3. [Q8IVM0-1]
NP_848018.1. NM_178335.2. [Q8IVM0-2]
UniGeneiHs.478682.

Genome annotation databases

EnsembliENST00000392455; ENSP00000376249; ENSG00000152492. [Q8IVM0-1]
ENST00000392456; ENSP00000376250; ENSG00000152492. [Q8IVM0-2]
GeneIDi152137.
KEGGihsa:152137.
UCSCiuc003fsv.3. human. [Q8IVM0-2]
uc003fsw.3. human. [Q8IVM0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ416916 mRNA. Translation: CAC95196.1.
AJ557013 mRNA. Translation: CAD89526.1.
BC065004 mRNA. Translation: AAH65004.1.
CCDSiCCDS33912.1. [Q8IVM0-2]
CCDS33913.1. [Q8IVM0-1]
RefSeqiNP_777568.1. NM_174908.3. [Q8IVM0-1]
NP_848018.1. NM_178335.2. [Q8IVM0-2]
UniGeneiHs.478682.

3D structure databases

ProteinModelPortaliQ8IVM0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127431. 6 interactions.
IntActiQ8IVM0. 5 interactions.
MINTiMINT-1392868.
STRINGi9606.ENSP00000376250.

Polymorphism and mutation databases

BioMutaiCCDC50.
DMDMi73619722.

Proteomic databases

MaxQBiQ8IVM0.
PaxDbiQ8IVM0.
PeptideAtlasiQ8IVM0.
PRIDEiQ8IVM0.

Protocols and materials databases

DNASUi152137.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000392455; ENSP00000376249; ENSG00000152492. [Q8IVM0-1]
ENST00000392456; ENSP00000376250; ENSG00000152492. [Q8IVM0-2]
GeneIDi152137.
KEGGihsa:152137.
UCSCiuc003fsv.3. human. [Q8IVM0-2]
uc003fsw.3. human. [Q8IVM0-1]

Organism-specific databases

CTDi152137.
GeneCardsiGC03P191046.
GeneReviewsiCCDC50.
HGNCiHGNC:18111. CCDC50.
HPAiHPA001336.
MIMi607453. phenotype.
611051. gene.
neXtProtiNX_Q8IVM0.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
PharmGKBiPA25902.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG85109.
GeneTreeiENSGT00390000011058.
HOGENOMiHOG000290669.
HOVERGENiHBG059995.
InParanoidiQ8IVM0.
OMAiAGLHCKE.
OrthoDBiEOG7JT6VW.
PhylomeDBiQ8IVM0.
TreeFamiTF325391.

Miscellaneous databases

ChiTaRSiCCDC50. human.
GeneWikiiCCDC50.
GenomeRNAii152137.
NextBioi86904.
PROiQ8IVM0.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IVM0.
CleanExiHS_CCDC50.
GenevestigatoriQ8IVM0.

Family and domain databases

InterProiIPR029311. CCDC50_N.
[Graphical view]
PfamiPF15295. CCDC50_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Identification and characterization of C3orf6, a new conserved human gene mapping to chromosome 3q28."
    Vazza G., Picelli S., Bozzato A., Mostacciuolo M.L.
    Gene 314:113-120(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Skin.
  3. "Temporal analysis of phosphotyrosine-dependent signaling networks by quantitative proteomics."
    Blagoev B., Ong S.-E., Kratchmarova I., Mann M.
    Nat. Biotechnol. 22:1139-1145(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, PHOSPHORYLATION.
  4. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  5. "A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss."
    Modamio-Hoeybjoer S., Mencia A., Goodyear R., del Castillo I., Richardson G., Moreno F., Moreno-Pelayo M.A.
    Am. J. Hum. Genet. 80:1076-1089(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN DFNA44.
  6. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  9. "The E3 ubiquitin ligases RNF126 and Rabring7 regulate endosomal sorting of the epidermal growth factor receptor."
    Smith C.J., Berry D.M., McGlade C.J.
    J. Cell Sci. 126:1366-1380(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RNF126.

Entry informationi

Entry nameiCCD50_HUMAN
AccessioniPrimary (citable) accession number: Q8IVM0
Secondary accession number(s): Q86VH7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: March 1, 2003
Last modified: April 29, 2015
This is version 105 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Found in a critical region of hereditary spastic paraplegia (HSP) SPG14 locus. No causative CCDC50 mutations were found in HSP families.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.