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Q810U5

- CCD50_MOUSE

UniProt

Q810U5 - CCD50_MOUSE

Protein

Coiled-coil domain-containing protein 50

Gene

Ccdc50

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 79 (01 Oct 2014)
      Sequence version 1 (01 Jun 2003)
      Previous versions | rss
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    Functioni

    Involved in EGFR signaling.By similarity

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 50
    Alternative name(s):
    Protein Ymer
    Gene namesi
    Name:Ccdc50
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 16

    Organism-specific databases

    MGIiMGI:1914751. Ccdc50.

    Subcellular locationi

    Cytoplasm 1 Publication
    Note: Associated with microtubules of the cytoskeleton and mitotic apparatus.

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cytoplasm

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11RemovedBy similarity
    Chaini2 – 305304Coiled-coil domain-containing protein 50PRO_0000066308Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanineBy similarity

    Post-translational modificationi

    Phosphorylated on tyrosine residues.By similarity

    Keywords - PTMi

    Acetylation, Phosphoprotein

    Proteomic databases

    PaxDbiQ810U5.
    PRIDEiQ810U5.

    PTM databases

    PhosphoSiteiQ810U5.

    Expressioni

    Tissue specificityi

    Widely expressed.1 Publication

    Developmental stagei

    At 14.5 dpc, strong punctate expression in the otic mesenchyme. Detected in the cells lining the lumen of the primitive cochlear duct and in the nerve fibers of the spiral ganglion, as well as in the nerve fibers invading the cochlear epithelium. At 17.5 dpc, detected only in the mesenchyme around the cochlear duct. 2 days after birth (P2), the mesenchymal expression becomes weaker, except in the region of the spiral limbus, while expression is observed for the first time in the apical region of the developing pillar cells (PCs). Also observed in the cytoplasm of outer hair cells, in their innervating nerve fibers and in the marginal cells of stria vascularis. At P9 and P12, detected in the stria vascularis and strongly through the entire length of the inner and outer PCs. At these stages, in tissues of mesenchymal origin, restricted to the spiral limbus and the spiral ligament. At P14 and P16, strong expression is maintained in the PCs and in the marginal cells of the stria vascularis, weak expression in the spiral limbus and ligament. Also detected in Deiter's cells. At P19 and P22, intense expression in the PCs and stria vascularis, as well as in the cell bodies and processes of Deiter's cells. Weak expression in the spiral limbus and ligament. At P31, when the inner ear is functionally mature, expressed only in the PCs and stria vascularis. At P69, strong expression in the PCs and less intense in stria vascularis. In the vestibular maculae and the cristae ampullaris, expression similar to that observed in the cochlea: strong signal in the mesenchyme at the initial embryonic stages that progressively becomes weaker and is less prominent in the adult (P33). At 17.5 dpc and P2, observed in nerve fibers innervating the sensory epithelia. Expression in the vestibular epithelium starts at 17.5 dpc and is readily detected at P2. Later expression increases and persists in adult stages in which it is restricted to the apical cytoplasm of the epithelial cells (at protein level).1 Publication

    Gene expression databases

    ArrayExpressiQ810U5.
    BgeeiQ810U5.
    CleanExiMM_CCDC50.
    GenevestigatoriQ810U5.

    Interactioni

    Protein-protein interaction databases

    IntActiQ810U5. 1 interaction.
    MINTiMINT-4126228.

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili86 – 13045Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi214 – 24936Lys-richAdd
    BLAST
    Compositional biasi265 – 2684Poly-Pro

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG85109.
    GeneTreeiENSGT00390000011058.
    HOGENOMiHOG000290669.
    HOVERGENiHBG059995.
    InParanoidiA6X929.
    OMAiKKHYPES.
    OrthoDBiEOG7JT6VW.
    PhylomeDBiQ810U5.
    TreeFamiTF325391.

    Family and domain databases

    InterProiIPR029311. CCDC50_N.
    [Graphical view]
    PfamiPF15295. CCDC50_N. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q810U5-1) [UniParc]FASTAAdd to Basket

    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

    MADVSVDQSK LPGVKEVCRD FAVLEDHTLA HSLQEQEIEH HLASNIQRNR    50
    LVQHDLQVAK QLQEEDLKAQ AQLQKRYKAL EQHDCEIAQE IQEKLTIEAE 100
    RRRIQEKKDE DIARLLQEKE LQEEKRRKKH TPEFSGGSVF GDNYYHEDGG 150
    MKPRGIKEAV STPARASHRD QEWYDAEIAR KLQEEELLAT HVDMRAAQVA 200
    QDEEIARLLM AEEKKAYKKA KEREKSSLDK RKHDPECKLK AKSAHSKSKE 250
    GDEAHRSKID RPSRPPPPTM MGLEDTDPTH FTNQHSTTWH LPKSESSQKG 300
    FHNKQ 305
    Length:305
    Mass (Da):35,321
    Last modified:June 1, 2003 - v1
    Checksum:iA49B28050941D82F
    GO
    Isoform 2 (identifier: Q810U5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         189-203: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:290
    Mass (Da):33,698
    Checksum:iE7975FEE547138CC
    GO
    Isoform 3 (identifier: Q810U5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         265-305: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:264
    Mass (Da):30,666
    Checksum:i0D351E1D2CE1D0DE
    GO

    Sequence cautioni

    The sequence BAB28089.1 differs from that shown. Reason: Frameshift at position 281.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti75 – 751K → N in BAC36861. (PubMed:16141072)Curated
    Sequence conflicti153 – 1531P → Q in BAC36861. (PubMed:16141072)Curated
    Sequence conflicti178 – 1781I → N in BAC36861. (PubMed:16141072)Curated
    Sequence conflicti300 – 3001G → C in BAB30453. (PubMed:16141072)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei189 – 20315Missing in isoform 2. 1 PublicationVSP_014986Add
    BLAST
    Alternative sequencei265 – 30541Missing in isoform 3. 1 PublicationVSP_014987Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ534985 mRNA. Translation: CAD59434.1.
    AK012190 mRNA. Translation: BAB28089.1. Frameshift.
    AK016827 mRNA. Translation: BAB30453.1.
    AK077557 mRNA. Translation: BAC36861.1.
    AK151672 mRNA. Translation: BAE30598.1.
    AK162434 mRNA. Translation: BAE36915.1.
    CT010568 Genomic DNA. Translation: CAO77934.1.
    CCDSiCCDS37305.1. [Q810U5-1]
    CCDS37306.1. [Q810U5-2]
    RefSeqiNP_001020786.1. NM_001025615.3. [Q810U5-2]
    NP_001276365.1. NM_001289436.1.
    NP_080478.2. NM_026202.4. [Q810U5-1]
    UniGeneiMm.258985.

    Genome annotation databases

    EnsembliENSMUST00000039443; ENSMUSP00000038509; ENSMUSG00000038127. [Q810U5-3]
    ENSMUST00000096127; ENSMUSP00000093841; ENSMUSG00000038127. [Q810U5-2]
    ENSMUST00000100026; ENSMUSP00000097604; ENSMUSG00000038127. [Q810U5-1]
    GeneIDi67501.
    KEGGimmu:67501.
    UCSCiuc007yvn.2. mouse. [Q810U5-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ534985 mRNA. Translation: CAD59434.1 .
    AK012190 mRNA. Translation: BAB28089.1 . Frameshift.
    AK016827 mRNA. Translation: BAB30453.1 .
    AK077557 mRNA. Translation: BAC36861.1 .
    AK151672 mRNA. Translation: BAE30598.1 .
    AK162434 mRNA. Translation: BAE36915.1 .
    CT010568 Genomic DNA. Translation: CAO77934.1 .
    CCDSi CCDS37305.1. [Q810U5-1 ]
    CCDS37306.1. [Q810U5-2 ]
    RefSeqi NP_001020786.1. NM_001025615.3. [Q810U5-2 ]
    NP_001276365.1. NM_001289436.1.
    NP_080478.2. NM_026202.4. [Q810U5-1 ]
    UniGenei Mm.258985.

    3D structure databases

    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q810U5. 1 interaction.
    MINTi MINT-4126228.

    PTM databases

    PhosphoSitei Q810U5.

    Proteomic databases

    PaxDbi Q810U5.
    PRIDEi Q810U5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000039443 ; ENSMUSP00000038509 ; ENSMUSG00000038127 . [Q810U5-3 ]
    ENSMUST00000096127 ; ENSMUSP00000093841 ; ENSMUSG00000038127 . [Q810U5-2 ]
    ENSMUST00000100026 ; ENSMUSP00000097604 ; ENSMUSG00000038127 . [Q810U5-1 ]
    GeneIDi 67501.
    KEGGi mmu:67501.
    UCSCi uc007yvn.2. mouse. [Q810U5-1 ]

    Organism-specific databases

    CTDi 152137.
    MGIi MGI:1914751. Ccdc50.

    Phylogenomic databases

    eggNOGi NOG85109.
    GeneTreei ENSGT00390000011058.
    HOGENOMi HOG000290669.
    HOVERGENi HBG059995.
    InParanoidi A6X929.
    OMAi KKHYPES.
    OrthoDBi EOG7JT6VW.
    PhylomeDBi Q810U5.
    TreeFami TF325391.

    Miscellaneous databases

    ChiTaRSi CCDC50. mouse.
    NextBioi 324754.
    PROi Q810U5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q810U5.
    Bgeei Q810U5.
    CleanExi MM_CCDC50.
    Genevestigatori Q810U5.

    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] (ISOFORM 1).
      Strain: CD-1.
      Tissue: Liver.
    2. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
      Strain: C57BL/6J.
      Tissue: Bone marrow, Embryo and Testis.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    4. "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: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.

    Entry informationi

    Entry nameiCCD50_MOUSE
    AccessioniPrimary (citable) accession number: Q810U5
    Secondary accession number(s): A6X929
    , Q3TRW1, Q8BP82, Q9CZT1, Q9D436
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 16, 2005
    Last sequence update: June 1, 2003
    Last modified: October 1, 2014
    This is version 79 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3