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Q8IVM0 (CCD50_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil domain-containing protein 50
Alternative name(s):
Protein Ymer
Gene names
Name:CCDC50
Synonyms:C3orf6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length306 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in EGFR signaling. Ref.3

Subcellular location

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

Tissue specificity

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. Ref.1

Post-translational modification

Phosphorylated on tyrosine residues. Ref.3

Involvement in disease

Deafness, autosomal dominant, 44 (DFNA44) [MIM:607453]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Miscellaneous

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

Ontologies

Keywords
   Cellular componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDeafness
Non-syndromic deafness
   DomainCoiled coil
   PTMAcetylation
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytoplasm

Inferred from direct assay. Source: HPA

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IVM0-1)

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.
Note: Major isoform.
Isoform 2 (identifier: Q8IVM0-2)

Also known as: Long;

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.6
Chain2 – 306305Coiled-coil domain-containing protein 50
PRO_0000066307

Regions

Coiled coil63 – 13068 Potential
Compositional bias214 – 25037Lys-rich
Compositional bias266 – 2694Poly-Pro

Amino acid modifications

Modified residue21N-acetylalanine Ref.6 Ref.8

Natural variations

Alternative sequence1491G → GDQPGSRRARELGSGFSRPC RLQRDGKTVKHKKEKPEHPL ENLEEPEQHCSSKRSLSSSS SGKGRDNPHINNEQHERKRS TQERPRRPLLPTISGEVFLS TECDDWETKINHQTRNWEKQ SRHQDRLSPKSSQKAGLHCK EVVYGRDHGQGEHRKRRHRP RTPPFSESEEQLHLHDA in isoform 2.
VSP_014985
Natural variant1211L → F.
Corresponds to variant rs35380043 [ dbSNP | Ensembl ].
VAR_050754
Natural variant1561M → T.
Corresponds to variant rs293813 [ dbSNP | Ensembl ].
VAR_050755

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Short) [UniParc].

Last modified March 1, 2003. Version 1.
Checksum: 3E935B62225CC93F

FASTA30635,822
        10         20         30         40         50         60 
MAEVSIDQSK LPGVKEVCRD FAVLEDHTLA HSLQEQEIEH HLASNVQRNR LVQHDLQVAK 

        70         80         90        100        110        120 
QLQEEDLKAQ AQLQKRYKDL EQQDCEIAQE IQEKLAIEAE RRRIQEKKDE DIARLLQEKE 

       130        140        150        160        170        180 
LQEEKKRKKH FPEFPATRAY ADSYYYEDGG MKPRVMKEAV STPSRMAHRD QEWYDAEIAR 

       190        200        210        220        230        240 
KLQEEELLAT QVDMRAAQVA QDEEIARLLM AEEKKAYKKA KEREKSSLDK RKQDPEWKPK 

       250        260        270        280        290        300 
TAKAANSKSK ESDEPHHSKN ERPARPPPPI MTDGEDADYT HFTNQQSSTR HFSKSESSHK 


GFHYKH 

« Hide

Isoform 2 (Long) [UniParc].

Checksum: AD8FC25D90590BC2
Show »

FASTA48256,340

References

« Hide 'large scale' references
[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]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[8]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ416916 mRNA. Translation: CAC95196.1.
AJ557013 mRNA. Translation: CAD89526.1.
BC065004 mRNA. Translation: AAH65004.1.
RefSeqNP_777568.1. NM_174908.3.
NP_848018.1. NM_178335.2.
UniGeneHs.478682.

3D structure databases

ProteinModelPortalQ8IVM0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127431. 5 interactions.
IntActQ8IVM0. 5 interactions.
MINTMINT-1392868.
STRING9606.ENSP00000376250.

Polymorphism databases

DMDM73619722.

Proteomic databases

PaxDbQ8IVM0.
PeptideAtlasQ8IVM0.
PRIDEQ8IVM0.

Protocols and materials databases

DNASU152137.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000392455; ENSP00000376249; ENSG00000152492. [Q8IVM0-1]
ENST00000392456; ENSP00000376250; ENSG00000152492. [Q8IVM0-2]
GeneID152137.
KEGGhsa:152137.
UCSCuc003fsv.3. human. [Q8IVM0-2]
uc003fsw.3. human. [Q8IVM0-1]

Organism-specific databases

CTD152137.
GeneCardsGC03P191046.
HGNCHGNC:18111. CCDC50.
HPAHPA001336.
MIM607453. phenotype.
611051. gene.
neXtProtNX_Q8IVM0.
Orphanet90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKBPA25902.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG85109.
HOGENOMHOG000290669.
HOVERGENHBG059995.
OMAAGLHCKE.
OrthoDBEOG7JT6VW.
PhylomeDBQ8IVM0.
TreeFamTF325391.

Gene expression databases

BgeeQ8IVM0.
CleanExHS_CCDC50.
GenevestigatorQ8IVM0.

Family and domain databases

ProtoNetSearch...

Other

GeneWikiCCDC50.
GenomeRNAi152137.
NextBio86904.
PROQ8IVM0.
SOURCESearch...

Entry information

Entry nameCCD50_HUMAN
AccessionPrimary (citable) accession number: Q8IVM0
Secondary accession number(s): Q86VH7
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: March 1, 2003
Last modified: April 16, 2014
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM