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Q8IVM0

- CCD50_HUMAN

UniProt

Q8IVM0 - CCD50_HUMAN

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Protein
Coiled-coil domain-containing protein 50
Gene
CCDC50, C3orf6
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Involved in EGFR signaling.1 Publication

GO - Molecular functioni

  1. protein binding Source: IntAct
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: 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

  1. cytoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Deafness, Non-syndromic deafness

Organism-specific databases

MIMi607453. phenotype.
Orphaneti90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKBiPA25902.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 306305Coiled-coil domain-containing protein 50
PRO_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

Binary interactionsi

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

Protein-protein interaction databases

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

Structurei

3D structure databases

ProteinModelPortaliQ8IVM0.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili63 – 13068 Reviewed prediction
Add
BLAST

Compositional bias

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG85109.
HOGENOMiHOG000290669.
HOVERGENiHBG059995.
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. Align

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

MAEVSIDQSK LPGVKEVCRD FAVLEDHTLA HSLQEQEIEH HLASNVQRNR    50
LVQHDLQVAK QLQEEDLKAQ AQLQKRYKDL EQQDCEIAQE IQEKLAIEAE 100
RRRIQEKKDE DIARLLQEKE LQEEKKRKKH FPEFPATRAY ADSYYYEDGG 150
MKPRVMKEAV STPSRMAHRD QEWYDAEIAR KLQEEELLAT QVDMRAAQVA 200
QDEEIARLLM AEEKKAYKKA KEREKSSLDK RKQDPEWKPK TAKAANSKSK 250
ESDEPHHSKN ERPARPPPPI MTDGEDADYT HFTNQQSSTR HFSKSESSHK 300
GFHYKH 306

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.
VSP_014985

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]

Polymorphism databases

DMDMi73619722.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ416916 mRNA. Translation: CAC95196.1 .
AJ557013 mRNA. Translation: CAD89526.1 .
BC065004 mRNA. Translation: AAH65004.1 .
CCDSi CCDS33912.1. [Q8IVM0-2 ]
CCDS33913.1. [Q8IVM0-1 ]
RefSeqi NP_777568.1. NM_174908.3. [Q8IVM0-1 ]
NP_848018.1. NM_178335.2. [Q8IVM0-2 ]
UniGenei Hs.478682.

3D structure databases

ProteinModelPortali Q8IVM0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127431. 5 interactions.
IntActi Q8IVM0. 5 interactions.
MINTi MINT-1392868.
STRINGi 9606.ENSP00000376250.

Polymorphism databases

DMDMi 73619722.

Proteomic databases

MaxQBi Q8IVM0.
PaxDbi Q8IVM0.
PeptideAtlasi Q8IVM0.
PRIDEi Q8IVM0.

Protocols and materials databases

DNASUi 152137.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000392455 ; ENSP00000376249 ; ENSG00000152492 . [Q8IVM0-1 ]
ENST00000392456 ; ENSP00000376250 ; ENSG00000152492 . [Q8IVM0-2 ]
GeneIDi 152137.
KEGGi hsa:152137.
UCSCi uc003fsv.3. human. [Q8IVM0-2 ]
uc003fsw.3. human. [Q8IVM0-1 ]

Organism-specific databases

CTDi 152137.
GeneCardsi GC03P191046.
GeneReviewsi CCDC50.
HGNCi HGNC:18111. CCDC50.
HPAi HPA001336.
MIMi 607453. phenotype.
611051. gene.
neXtProti NX_Q8IVM0.
Orphaneti 90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA.
PharmGKBi PA25902.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG85109.
HOGENOMi HOG000290669.
HOVERGENi HBG059995.
OMAi AGLHCKE.
OrthoDBi EOG7JT6VW.
PhylomeDBi Q8IVM0.
TreeFami TF325391.

Miscellaneous databases

GeneWikii CCDC50.
GenomeRNAii 152137.
NextBioi 86904.
PROi Q8IVM0.
SOURCEi Search...

Gene expression databases

Bgeei Q8IVM0.
CleanExi HS_CCDC50.
Genevestigatori Q8IVM0.

Family and domain databases

InterProi IPR029311. CCDC50_N.
[Graphical view ]
Pfami PF15295. CCDC50_N. 1 hit.
[Graphical view ]
ProtoNeti Search...

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].

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: July 9, 2014
This is version 99 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

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