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A2IDD5

- CCD78_HUMAN

UniProt

A2IDD5 - CCD78_HUMAN

Protein

Coiled-coil domain-containing protein 78

Gene

CCDC78

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 61 (01 Oct 2014)
      Sequence version 1 (20 Feb 2007)
      Previous versions | rss
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    Functioni

    Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome.1 Publication

    GO - Biological processi

    1. cell projection organization Source: UniProtKB-KW
    2. de novo centriole assembly Source: UniProtKB
    3. skeletal muscle contraction Source: UniProtKB

    Keywords - Biological processi

    Cilium biogenesis/degradation

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 78
    Alternative name(s):
    hsCCDC78
    Gene namesi
    Name:CCDC78
    Synonyms:C16orf25
    ORF Names:JFP10
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:14153. CCDC78.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Cytoplasmperinuclear region. Cell membranesarcolemma. Sarcoplasmic reticulum
    Note: Localizes to centrioles and deuterosome. Found primarily in the perinuclear region as well as along the sarcolemmal membrane and in reticular pattern within the sarcoplasm.

    GO - Cellular componenti

    1. centriole Source: UniProtKB
    2. deuterosome Source: UniProtKB
    3. perinuclear region of cytoplasm Source: UniProtKB
    4. sarcolemma Source: UniProtKB
    5. sarcoplasmic reticulum Source: UniProtKB

    Keywords - Cellular componenti

    Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Sarcoplasmic reticulum

    Pathology & Biotechi

    Involvement in diseasei

    Myopathy, centronuclear, 4 (CNM4) [MIM:614807]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi614807. phenotype.
    Orphaneti319160. Congenital myopathy with internal nuclei and atypical cores.
    PharmGKBiPA25539.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 438438Coiled-coil domain-containing protein 78PRO_0000291841Add
    BLAST

    Proteomic databases

    PaxDbiA2IDD5.
    PRIDEiA2IDD5.

    Expressioni

    Tissue specificityi

    Expressed primarily in skeletal muscle.1 Publication

    Gene expression databases

    ArrayExpressiA2IDD5.
    BgeeiA2IDD5.
    CleanExiHS_CCDC78.
    GenevestigatoriA2IDD5.

    Organism-specific databases

    HPAiHPA041186.
    HPA041384.

    Interactioni

    Protein-protein interaction databases

    IntActiA2IDD5. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliA2IDD5.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili74 – 10532Sequence AnalysisAdd
    BLAST
    Coiled coili217 – 24630Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CCDC78 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG77695.
    InParanoidiA2IDD5.
    OMAiSCWSGPR.
    PhylomeDBiA2IDD5.
    TreeFamiTF336362.

    Family and domain databases

    InterProiIPR029329. DUF4472.
    [Graphical view]
    PfamiPF14739. DUF4472. 1 hit.
    [Graphical view]

    Sequences (6)i

    Sequence statusi: Complete.

    This entry describes 6 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: A2IDD5-1) [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

    MEHAATTGPR PGPPSRRVEN VVLRAKDWLP GAPGGTAVWA TSLEAEVPPD    50
    LALNKEQQLQ ISKELVDIQI TTHHLHEQHE AEIFQLKSEI LRLESRVLEL 100
    ELRGDGTSQG CAVPVESDPR HPRAAAQELR HKAQVPGHSD DHRFQVQPKN 150
    TMNPENEQHR LGSGLQGEVK WALEHQEARQ QALVTRVATL GRQLQGAREE 200
    ARAAGQRLAT QAVVLCSCQG QLRQAEAENA RLQLQLKKLK DEYVLRLQHC 250
    AWQAVEHADG AGQAPATTAL RTFLEATLED IRAAHRSREQ QLARAARSYH 300
    KRLVDLSRRH EELLVAYRAP GNPQAIFDIA SLDLEPLPVP LVTDFSHRED 350
    QHGGPGALLS SPKKRPGGAS QGGTSEPQGL DAASWAQIHQ KLRDFSRSTQ 400
    SWNGSGHSCW SGPRWLKSNF LSYRSTWTST WAGTSTKS 438
    Length:438
    Mass (Da):48,521
    Last modified:February 20, 2007 - v1
    Checksum:iC178BF32086E2560
    GO
    Isoform 2 (identifier: A2IDD5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         188-438: Missing.

    Show »
    Length:187
    Mass (Da):20,887
    Checksum:i13375CC87D8032C6
    GO
    Isoform 3 (identifier: A2IDD5-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         165-273: LQGEVKWALE...APATTALRTF → VSVQPPSSGE...PGSDWPHRLW
         274-438: Missing.

    Note: Due to intron retention.

    Show »
    Length:273
    Mass (Da):29,120
    Checksum:i94C38D2CF465E9F8
    GO
    Isoform 4 (identifier: A2IDD5-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         165-257: LQGEVKWALE...QHCAWQAVEH → VSVQPPSSGE...LPRPAPSGRG
         258-438: Missing.

    Note: Due to intron retention.

    Show »
    Length:257
    Mass (Da):26,532
    Checksum:i33562B7C07665F3D
    GO
    Isoform 5 (identifier: A2IDD5-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         20-20: N → NVSPLGLAAP...PGEWVAVPPQ
         165-273: LQGEVKWALE...APATTALRTF → VSVQPPSSGE...PGSDWPHRLW
         274-438: Missing.

    Note: Due to intron retention.

    Show »
    Length:347
    Mass (Da):36,680
    Checksum:iC0CCE9BC4AE3B52B
    GO
    Isoform 6 (identifier: A2IDD5-6) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         134-144: Missing.
         165-273: LQGEVKWALE...APATTALRTF → VSVQPPSSGE...PGSDWPHRLW
         274-438: Missing.

    Note: Due to intron retention.

    Show »
    Length:262
    Mass (Da):27,844
    Checksum:i1C9E6F74AEA7131D
    GO

    Sequence cautioni

    The sequence AAK61249.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti68 – 681I → T in AAR13900. 1 PublicationCurated
    Sequence conflicti153 – 1531N → D in BAC87488. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti252 – 2521W → R.1 Publication
    Corresponds to variant rs2071950 [ dbSNP | Ensembl ].
    VAR_032867

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei20 – 201N → NVSPLGLAAPAMGLKSARSP KGQEGAGSCTLGLISARRGT FTAQPGREAGLVTAWEWGHS PAWDPPGEWVAVPPQ in isoform 5. 1 PublicationVSP_026252
    Alternative sequencei134 – 14411Missing in isoform 6. 1 PublicationVSP_026253Add
    BLAST
    Alternative sequencei165 – 273109LQGEV…ALRTF → VSVQPPSSGERAAPETPSLG SHPASPVCPTAAGGSEVGAG ASGGPAAGTGDACVSGHLTW GPILEQREPLIVGLLSLTPV SSGQPWAGSCREPERRPGQP GSDWPHRLW in isoform 3, isoform 5 and isoform 6. 2 PublicationsVSP_026254Add
    BLAST
    Alternative sequencei165 – 25793LQGEV…QAVEH → VSVQPPSSGERAAPETPSLG SHPASPVCPTAAGGSEVGAG ASGGPAAGTGDACGNPGPAA AGSPRGGQGSRAATGHTGCG AVQLPRPAPSGRG in isoform 4. 2 PublicationsVSP_026255Add
    BLAST
    Alternative sequencei188 – 438251Missing in isoform 2. 2 PublicationsVSP_026256Add
    BLAST
    Alternative sequencei258 – 438181Missing in isoform 4. 2 PublicationsVSP_026257Add
    BLAST
    Alternative sequencei274 – 438165Missing in isoform 3, isoform 5 and isoform 6. 2 PublicationsVSP_026258Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK091831 mRNA. Translation: BAC03757.1.
    AK128538 mRNA. Translation: BAC87488.1.
    AK298111 mRNA. Translation: BAG60396.1.
    AK303991 mRNA. Translation: BAG64908.1.
    AY439221 mRNA. Translation: AAR13900.1.
    AE006464 Genomic DNA. Translation: AAK61249.1. Sequence problems.
    Z98258 Genomic DNA. Translation: CAM26479.1.
    CH471112 Genomic DNA. Translation: EAW85742.1.
    BC027941 mRNA. No translation available.
    BC031561 mRNA. No translation available.
    BC042110 mRNA. Translation: AAH42110.1.
    CCDSiCCDS32353.1. [A2IDD5-1]
    RefSeqiNP_001026907.2. NM_001031737.2. [A2IDD5-1]
    XP_005255163.1. XM_005255106.2. [A2IDD5-6]
    UniGeneiHs.381943.

    Genome annotation databases

    EnsembliENST00000293889; ENSP00000293889; ENSG00000162004. [A2IDD5-1]
    GeneIDi124093.
    KEGGihsa:124093.
    UCSCiuc002cjg.3. human. [A2IDD5-1]
    uc002cji.3. human. [A2IDD5-5]
    uc002cjj.3. human. [A2IDD5-6]
    uc010uuo.1. human. [A2IDD5-4]

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK091831 mRNA. Translation: BAC03757.1 .
    AK128538 mRNA. Translation: BAC87488.1 .
    AK298111 mRNA. Translation: BAG60396.1 .
    AK303991 mRNA. Translation: BAG64908.1 .
    AY439221 mRNA. Translation: AAR13900.1 .
    AE006464 Genomic DNA. Translation: AAK61249.1 . Sequence problems.
    Z98258 Genomic DNA. Translation: CAM26479.1 .
    CH471112 Genomic DNA. Translation: EAW85742.1 .
    BC027941 mRNA. No translation available.
    BC031561 mRNA. No translation available.
    BC042110 mRNA. Translation: AAH42110.1 .
    CCDSi CCDS32353.1. [A2IDD5-1 ]
    RefSeqi NP_001026907.2. NM_001031737.2. [A2IDD5-1 ]
    XP_005255163.1. XM_005255106.2. [A2IDD5-6 ]
    UniGenei Hs.381943.

    3D structure databases

    ProteinModelPortali A2IDD5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi A2IDD5. 1 interaction.

    Proteomic databases

    PaxDbi A2IDD5.
    PRIDEi A2IDD5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000293889 ; ENSP00000293889 ; ENSG00000162004 . [A2IDD5-1 ]
    GeneIDi 124093.
    KEGGi hsa:124093.
    UCSCi uc002cjg.3. human. [A2IDD5-1 ]
    uc002cji.3. human. [A2IDD5-5 ]
    uc002cjj.3. human. [A2IDD5-6 ]
    uc010uuo.1. human. [A2IDD5-4 ]

    Organism-specific databases

    CTDi 124093.
    GeneCardsi GC16M000772.
    HGNCi HGNC:14153. CCDC78.
    HPAi HPA041186.
    HPA041384.
    MIMi 614666. gene.
    614807. phenotype.
    neXtProti NX_A2IDD5.
    Orphaneti 319160. Congenital myopathy with internal nuclei and atypical cores.
    PharmGKBi PA25539.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG77695.
    InParanoidi A2IDD5.
    OMAi SCWSGPR.
    PhylomeDBi A2IDD5.
    TreeFami TF336362.

    Miscellaneous databases

    GenomeRNAii 124093.
    NextBioi 81224.
    PROi A2IDD5.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi A2IDD5.
    Bgeei A2IDD5.
    CleanExi HS_CCDC78.
    Genevestigatori A2IDD5.

    Family and domain databases

    InterProi IPR029329. DUF4472.
    [Graphical view ]
    Pfami PF14739. DUF4472. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 4 AND 5).
      Tissue: Lung and Trachea.
    2. Li H., Zheng G., Zhong G., Ke R., Zhou G., Shen C., Lin L., Yang S.
      Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
    3. "Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16."
      Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.
      Hum. Mol. Genet. 10:339-352(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The sequence and analysis of duplication-rich human chromosome 16."
      Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J.
      , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
      Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORMS 1; 2 AND 4), VARIANT ARG-252.
      Tissue: Brain and Lung.
    7. "Dominant mutation of ccdc78 in a unique congenital myopathy with prominent internal nuclei and atypical cores."
      Majczenko K., Davidson A.E., Camelo-Piragua S., Agrawal P.B., Manfready R.A., Li X., Joshi S., Xu J., Peng W., Beggs A.H., Li J.Z., Burmeister M., Dowling J.J.
      Am. J. Hum. Genet. 91:365-371(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INVOLVEMENT IN CNM4.
    8. Cited for: FUNCTION, SUBCELLULAR LOCATION.

    Entry informationi

    Entry nameiCCD78_HUMAN
    AccessioniPrimary (citable) accession number: A2IDD5
    Secondary accession number(s): B4DNY4
    , B4E1U6, Q05BY7, Q05CA0, Q6T2V5, Q6ZR33, Q8IUR3, Q8NAY7, Q96S12
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 26, 2007
    Last sequence update: February 20, 2007
    Last modified: October 1, 2014
    This is version 61 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

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 16
      Human chromosome 16: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3