CCDC50 coiled-coil domain containing 50 [Homo sapiens] - Gene

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Summary

Official Symbol: CCDC50provided by HGNC
Official Full Name: coiled-coil domain containing 50provided by HGNC
Primary source: HGNC:18111
See related: Ensembl:ENSG00000152492; HPRD:06463; MIM:611051; Vega:OTTHUMG00000156177
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: YMER; C3orf6; DFNA44
Summary: 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]

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Genomic context

Location :: 3q28

Sequence :: Chromosome: 3; NC_000003.11 (191046874..191116459)

See CCDC50 in Epigenomics, MapViewer

Chromosome 3 - NC_000003.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

CCDC50 is required for survival in mantle cell lymphoma and chronic lymphocytic leukemia cells and controls NFkappaB signaling
Title: Gene knockdown studies revealed CCDC50 as a candidate gene in mantle cell lymphoma and chronic lymphocytic leukemia.
These findings demonstrate that Ymer is likely to be a negative regulator for the NF-kappaB signaling pathway.
Title: Inhibition of NF-kappaB signaling via tyrosine phosphorylation of Ymer.
Ymer functions as a novel inhibitor for the down-regulation of the EGF receptor and plays a crucial role for regulating the amount of the EGF receptor on the cell surface membrane
Title: Suppression of the ligand-mediated down-regulation of epidermal growth factor receptor by Ymer, a novel tyrosine-phosphorylated and ubiquitinated protein.
identification of a novel DFNA locus on chromosome 3q28-29 in a Spanish family with postlingual and progressive hearing loss[DFNA44]
Title: A novel locus for autosomal dominant nonsyndromic hearing loss (DFNA44) maps to chromosome 3q28-29.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Deafness, autosomal dominant 44

MIM: 607453

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Products	Interactant	Other Gene	Source	Pubs	Description
Q8IVM0	P61247	RPS3A	HPRD	PubMed
BioGRID:127431	BioGRID:108276	EGFR	BioGRID	PubMed	Affinity Capture-Western
BioGRID:127431	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Reconstituted Complex

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: coiled-coil domain-containing protein 50

Names: coiled-coil domain-containing protein 50; protein Ymer

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008994.1 RefSeqGene

Range

5001..74586

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_174908.3 → NP_777568.1 coiled-coil domain-containing protein 50 short isoform

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an in-frame exon in the coding region, compared to variant 2, and encodes the short isoform.

Source sequence(s)

AC073365, AJ416916

Consensus CDS

CCDS33913.1

UniProtKB/Swiss-Prot

Q8IVM0

Related

ENSP00000376249, OTTHUMP00000209328, ENST00000392455, OTTHUMT00000343315
NM_178335.2 → NP_848018.1 coiled-coil domain-containing protein 50 long isoform

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longer transcript and encodes the long isoform.

Source sequence(s)

AC073365, AJ557013

Consensus CDS

CCDS33912.1

UniProtKB/Swiss-Prot

Q8IVM0

Related

ENSP00000376250, OTTHUMP00000209329, ENST00000392456, OTTHUMT00000343316

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000003.11 Reference GRCh37.p5 Primary Assembly

Range

191046874..191116459

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000135.1 Alternate HuRef

Range

188446586..188516222

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC068645.11	None
genomic	AC073365.14 (2000..16949)	None
genomic	CH471052.2	EAW78089.1
		EAW78090.1
mRNA	AJ416916.2	CAC95196.1
mRNA	AJ557013.1	CAD89526.1
mRNA	AK055652.1	None
mRNA	AK092045.1	None
mRNA	AK093660.1	None
mRNA	AL512753.1	None
mRNA	BC065004.1	AAH65004.1
other-genetic	HQ448050.1	ADQ32531.1