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Q96G28

- CC104_HUMAN

UniProt

Q96G28 - CC104_HUMAN

Protein

Coiled-coil domain-containing protein 104

Gene

CCDC104

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 84 (01 Oct 2014)
      Sequence version 2 (20 Feb 2007)
      Previous versions | rss
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    Functioni

    May act as an effector for ARL3.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Coiled-coil domain-containing protein 104
    Gene namesi
    Name:CCDC104
    ORF Names:UNQ163/PRO189
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:30540. CCDC104.

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA145008608.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 342342Coiled-coil domain-containing protein 104PRO_0000278638Add
    BLAST

    Proteomic databases

    MaxQBiQ96G28.
    PaxDbiQ96G28.
    PRIDEiQ96G28.

    PTM databases

    PhosphoSiteiQ96G28.

    Miscellaneous databases

    PMAP-CutDBQ96G28.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96G28.
    BgeeiQ96G28.
    CleanExiHS_CCDC104.
    GenevestigatoriQ96G28.

    Organism-specific databases

    HPAiHPA008994.
    HPA017061.

    Interactioni

    Subunit structurei

    Interacts with ARL3.1 Publication

    Protein-protein interaction databases

    BioGridi125218. 4 interactions.
    IntActiQ96G28. 3 interactions.
    STRINGi9606.ENSP00000295117.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96G28.
    SMRiQ96G28. Positions 6-121.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili150 – 18738Sequence AnalysisAdd
    BLAST

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG321232.
    HOGENOMiHOG000007745.
    HOVERGENiHBG062543.
    OMAiMTEKPEM.
    OrthoDBiEOG7C8GJF.
    PhylomeDBiQ96G28.
    TreeFamiTF315143.

    Family and domain databases

    Gene3Di1.20.1520.10. 1 hit.
    InterProiIPR023379. ARF-like_2-bdp_dom.
    [Graphical view]
    PfamiPF11527. ARL2_Bind_BART. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96G28-1) [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

    MAAEEEDEVE WVVESIAGFL RGPDWSIPIL DFVEQKCEVF DDEEESKLTY    50
    TEIHQEYKEL VEKLLEGYLK EIGINEDQFQ EACTSPLAKT HTSQAILQPV 100
    LAAEDFTIFK AMMVQKNIEM QLQAIRIIQE RNGVLPDCLT DGSDVVSDLE 150
    HEEMKILREV LRKSKEEYDQ EEERKRKKQL SEAKTEEPTV HSSEAAIMNN 200
    SQGDGEHFAH PPSEVKMHFA NQSIEPLGRK VERSETSSLP QKDLKIPGLE 250
    HASIEGPIAN LSVLGTEELR QREHYLKQKR DKLMSMRKDM RTKQIQNMEQ 300
    KGKPTGEVEE MTEKPEMTAE EKQTLLKRRL LAEKLKEEVI NK 342
    Length:342
    Mass (Da):39,447
    Last modified:February 20, 2007 - v2
    Checksum:iC8ACF26FC57DFBD6
    GO
    Isoform 2 (identifier: Q96G28-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         39-39: V → VNCKGGHVITPGSPEPVILVACVPLV

    Show »
    Length:367
    Mass (Da):41,929
    Checksum:i2E0F8C275213CE05
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti6 – 61E → D.
    Corresponds to variant rs34891804 [ dbSNP | Ensembl ].
    VAR_050725
    Natural varianti243 – 2431D → G.2 Publications
    Corresponds to variant rs1045910 [ dbSNP | Ensembl ].
    VAR_030795
    Natural varianti246 – 2461I → F.1 Publication
    Corresponds to variant rs1045920 [ dbSNP | Ensembl ].
    VAR_030796

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei39 – 391V → VNCKGGHVITPGSPEPVILV ACVPLV in isoform 2. 1 PublicationVSP_023338

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358097 mRNA. Translation: AAQ88464.1.
    BC010011 mRNA. Translation: AAH10011.1.
    AC019198 Genomic DNA. Translation: AAY14933.1.
    AC015982 Genomic DNA. Translation: AAY24269.1.
    CCDSiCCDS1854.2. [Q96G28-1]
    CCDS62911.1. [Q96G28-2]
    RefSeqiNP_001269690.1. NM_001282761.1. [Q96G28-2]
    NP_542398.3. NM_080667.6. [Q96G28-1]
    UniGeneiHs.264208.

    Genome annotation databases

    EnsembliENST00000339012; ENSP00000342699; ENSG00000163001. [Q96G28-2]
    ENST00000349456; ENSP00000295117; ENSG00000163001. [Q96G28-1]
    GeneIDi112942.
    KEGGihsa:112942.
    UCSCiuc002ryx.2. human. [Q96G28-2]
    uc002ryy.2. human. [Q96G28-1]

    Polymorphism databases

    DMDMi126215682.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY358097 mRNA. Translation: AAQ88464.1 .
    BC010011 mRNA. Translation: AAH10011.1 .
    AC019198 Genomic DNA. Translation: AAY14933.1 .
    AC015982 Genomic DNA. Translation: AAY24269.1 .
    CCDSi CCDS1854.2. [Q96G28-1 ]
    CCDS62911.1. [Q96G28-2 ]
    RefSeqi NP_001269690.1. NM_001282761.1. [Q96G28-2 ]
    NP_542398.3. NM_080667.6. [Q96G28-1 ]
    UniGenei Hs.264208.

    3D structure databases

    ProteinModelPortali Q96G28.
    SMRi Q96G28. Positions 6-121.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 125218. 4 interactions.
    IntActi Q96G28. 3 interactions.
    STRINGi 9606.ENSP00000295117.

    PTM databases

    PhosphoSitei Q96G28.

    Polymorphism databases

    DMDMi 126215682.

    Proteomic databases

    MaxQBi Q96G28.
    PaxDbi Q96G28.
    PRIDEi Q96G28.

    Protocols and materials databases

    DNASUi 112942.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000339012 ; ENSP00000342699 ; ENSG00000163001 . [Q96G28-2 ]
    ENST00000349456 ; ENSP00000295117 ; ENSG00000163001 . [Q96G28-1 ]
    GeneIDi 112942.
    KEGGi hsa:112942.
    UCSCi uc002ryx.2. human. [Q96G28-2 ]
    uc002ryy.2. human. [Q96G28-1 ]

    Organism-specific databases

    CTDi 112942.
    GeneCardsi GC02P055746.
    H-InvDB HIX0002064.
    HGNCi HGNC:30540. CCDC104.
    HPAi HPA008994.
    HPA017061.
    neXtProti NX_Q96G28.
    PharmGKBi PA145008608.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG321232.
    HOGENOMi HOG000007745.
    HOVERGENi HBG062543.
    OMAi MTEKPEM.
    OrthoDBi EOG7C8GJF.
    PhylomeDBi Q96G28.
    TreeFami TF315143.

    Miscellaneous databases

    ChiTaRSi CCDC104. human.
    GenomeRNAii 112942.
    NextBioi 78717.
    PMAP-CutDB Q96G28.
    PROi Q96G28.

    Gene expression databases

    ArrayExpressi Q96G28.
    Bgeei Q96G28.
    CleanExi HS_CCDC104.
    Genevestigatori Q96G28.

    Family and domain databases

    Gene3Di 1.20.1520.10. 1 hit.
    InterProi IPR023379. ARF-like_2-bdp_dom.
    [Graphical view ]
    Pfami PF11527. ARL2_Bind_BART. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLY-243.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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), VARIANTS GLY-243 AND PHE-246.
      Tissue: B-cell.
    4. "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    5. Cited for: INTERACTION WITH ARL3, POSSIBLE FUNCTION.

    Entry informationi

    Entry nameiCC104_HUMAN
    AccessioniPrimary (citable) accession number: Q96G28
    Secondary accession number(s): Q53SF0, Q53ST9, Q6UY34
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: February 20, 2007
    Last sequence update: February 20, 2007
    Last modified: October 1, 2014
    This is version 84 of the entry and version 2 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 2
      Human chromosome 2: 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

    External Data

    Dasty 3