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Q8IVM0

- CCD50_HUMAN

UniProt

Q8IVM0 - CCD50_HUMAN

Protein

Coiled-coil domain-containing protein 50

Gene

CCDC50

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 100 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    Involved in EGFR signaling.1 Publication

    GO - Molecular functioni

    1. protein binding Source: IntAct

    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

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    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 – 11Removed2 Publications
    Chaini2 – 306305Coiled-coil domain-containing protein 50PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili63 – 13068Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi214 – 25037Lys-richAdd
    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. 1 PublicationVSP_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

    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: October 1, 2014
    This is version 100 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