CCDC50

Protein identityUniProt · HPA

UniProt accession

Q8IVM0

Gene

CCDC50

Ensembl

ENSG00000152492

Chromosome

3

Canonical length

306 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Basal body,Cytosol

OverviewNCBI Gene

This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

306 residues, UniProt reviewed canonical sequence.

>Q8IVM0|CCDC50
     1  MAEVSIDQSK LPGVKEVCRD FAVLEDHTLA HSLQEQEIEH HLASNVQRNR LVQHDLQVAK
    61  QLQEEDLKAQ AQLQKRYKDL EQQDCEIAQE IQEKLAIEAE RRRIQEKKDE DIARLLQEKE
   121  LQEEKKRKKH FPEFPATRAY ADSYYYEDGG MKPRVMKEAV STPSRMAHRD QEWYDAEIAR
   181  KLQEEELLAT QVDMRAAQVA QDEEIARLLM AEEKKAYKKA KEREKSSLDK RKQDPEWKPK
   241  TAKAANSKSK ESDEPHHSKN ERPARPPPPI MTDGEDADYT HFTNQQSSTR HFSKSESSHK
   301  GFHYKH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CCDC50 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.59

Highest tissue expression

59 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CCDC50.

Disease | AllUniProt

Conditions CCDC50 is implicated in, by any mechanism.

• Deafness, autosomal dominant, 44 (DFNA44) MIM:607453

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 335 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal dominant nonsyndromic hearing loss 44

Disease | ImmuneIEDB

Conditions an epitope on CCDC50 was assayed in.

• brain glioma T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.74

gnomAD pLI

0

gnomAD missense Z

0.07

DepMap mean gene effect

0.19

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• sensory perception of sound

Molecular functions

• ubiquitin protein ligase binding

Cellular components

• ciliary basal body
• cytoplasm
• cytosol

Protein domainsUniProt · Pfam · InterPro

• Coiled-coil domain-containing protein 50, N-terminal
• Coiled-coil domain-containing protein 50
• Coiled-coil domain-containing protein 50 N-terminus

KeywordsUniProt

• Acetylation
• Coiled coil
• Cytoplasm
• Deafness
• Non-syndromic deafness
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of CCDC50 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RNF126