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Protein

Coiled-coil domain-containing protein 50

Gene

CCDC50

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

Functioni

Involved in EGFR signaling.1 Publication

Miscellaneous

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

GO - Molecular functioni

  • ubiquitin protein ligase binding Source: UniProtKB

GO - Biological processi

  • sensory perception of sound Source: MGI

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
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000152492.13
HGNCiHGNC:18111 CCDC50
MIMi611051 gene
neXtProtiNX_Q8IVM0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

DisGeNETi152137
GeneReviewsiCCDC50
MalaCardsiCCDC50
MIMi607453 phenotype
OpenTargetsiENSG00000152492
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
PharmGKBiPA25902

Polymorphism and mutation databases

BioMutaiCCDC50
DMDMi73619722

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000663072 – 306Coiled-coil domain-containing protein 50Add BLAST305

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei5PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylated on tyrosine residues.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8IVM0
MaxQBiQ8IVM0
PeptideAtlasiQ8IVM0
PRIDEiQ8IVM0
ProteomicsDBi70741
70742 [Q8IVM0-2]

PTM databases

iPTMnetiQ8IVM0
PhosphoSitePlusiQ8IVM0

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

BgeeiENSG00000152492
CleanExiHS_CCDC50
GenevisibleiQ8IVM0 HS

Organism-specific databases

HPAiHPA001336

Interactioni

Subunit structurei

Interacts with RNF126.1 Publication

Binary interactionsi

Show more details

GO - Molecular functioni

  • ubiquitin protein ligase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi127431, 16 interactors
IntActiQ8IVM0, 12 interactors

Structurei

3D structure databases

ProteinModelPortaliQ8IVM0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili63 – 130Sequence analysisAdd BLAST68

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi214 – 250Lys-richAdd BLAST37
Compositional biasi266 – 269Poly-Pro4

Keywords - Domaini

Coiled coil

Phylogenomic databases

GeneTreeiENSGT00390000011058
HOGENOMiHOG000290669
HOVERGENiHBG059995
InParanoidiQ8IVM0
OMAiATQVDMR
OrthoDBiEOG091G0GP5
PhylomeDBiQ8IVM0
TreeFamiTF325391

Family and domain databases

InterProiView protein in InterPro
IPR039303 CCDC50
IPR029311 CCDC50_N
PANTHERiPTHR22115 PTHR22115, 2 hits
PfamiView protein in Pfam
PF15295 CCDC50_N, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_050754121L → F. Corresponds to variant dbSNP:rs35380043EnsemblClinVar.1
Natural variantiVAR_050755156M → T. Corresponds to variant dbSNP:rs293813Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_014985149G → GDQPGSRRARELGSGFSRPC RLQRDGKTVKHKKEKPEHPL ENLEEPEQHCSSKRSLSSSS SGKGRDNPHINNEQHERKRS TQERPRRPLLPTISGEVFLS TECDDWETKINHQTRNWEKQ SRHQDRLSPKSSQKAGLHCK EVVYGRDHGQGEHRKRRHRP RTPPFSESEEQLHLHDA in isoform 2. 1 Publication1

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 [Q8IVM0-2]
ENST00000392456; ENSP00000376250; ENSG00000152492 [Q8IVM0-1]
GeneIDi152137
KEGGihsa:152137
UCSCiuc003fsv.4 human [Q8IVM0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiCCD50_HUMAN
AccessioniPrimary (citable) accession number: Q8IVM0
Secondary accession number(s): Q86VH7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: March 1, 2003
Last modified: July 18, 2018
This is version 129 of the entry and version 1 of the sequence. See 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

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

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