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    CCDC80 coiled-coil domain containing 80 [ Homo sapiens (human) ]

    Gene ID: 151887, updated on 5-May-2013
    Official Symbol
    CCDC80provided by HGNC
    Official Full Name
    coiled-coil domain containing 80provided by HGNC
    Primary source
    HGNC:30649
    Locus tag
    HBE245
    See related
    Ensembl:ENSG00000091986; HPRD:10508; MIM:608298; Vega:OTTHUMG00000159265
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    URB; DRO1; SSG1; okuribin
    Location :
    3q13.2
    Sequence :
    Chromosome: 3; NC_000003.11 (112323407..112359977, complement)
    See CCDC80 in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 35, member A5 Neighboring gene uncharacterized LOC100506621 Neighboring gene methionine adenosyltransferase II, alpha pseudogene Neighboring gene CD200 receptor 1-like

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Transcriptional repression of the tumor suppressor DRO1 by AIB1. Ferragud J, et al. FEBS Lett, 2011 Oct 3. PMID 21871888.
    2. Proliferating cell nuclear antigen (PCNA)-associated KIAA0101/PAF15 protein is a cell cycle-regulated anaphase-promoting complex/cyclosome substrate. Emanuele MJ, et al. Proc Natl Acad Sci U S A, 2011 Jun 14. PMID 21628590.
    3. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. Bennett EJ, et al. Cell, 2010 Dec 10. PMID 21145461.
    4. URB is abundantly expressed in adipose tissue and dysregulated in obesity. Okada T, et al. Biochem Biophys Res Commun, 2008 Mar 7. PMID 18178152.
    5. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348.

    See all (14) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Results reveal DRO1 as an AIB1-targeted tumor suppressor, providing a novel mechanism for AIB1-dependent inhibition of apoptosis.
      Title: Transcriptional repression of the tumor suppressor DRO1 by AIB1.
    2. In conclusion, the expression pattern of URB suggests its role in obesity and the results suggest that URB is secreted, at least in part, from adipocytes.
      Title: URB is abundantly expressed in adipose tissue and dysregulated in obesity.
    3. Downregulated during osteoblastic differentiation of bone marrow stromal cells. Suggests role in skeletogenesis.
      Title: URB expression in human bone marrow stromal cells and during mouse development.
    4. URB is expressed in human dermal papilla cells
      Title: URB expression in human dermal papilla cells.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:127410 BioGRID:114028 CUL4B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:127410 BioGRID:115114 KIAA0101    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Clone Names

    • MGC131805, MGC134851

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    fibronectin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    heparin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    positive regulation of cell-substrate adhesion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    basement membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    interstitial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    coiled-coil domain-containing protein 80
    Names
    coiled-coil domain-containing protein 80
    steroid sensitive gene 1
    nuclear envelope protein okuribin
    down-regulated by oncogenes protein 1
    up-regulated in BRS-3 deficient mouse homolog

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_199511.1 → NP_955805.1  coiled-coil domain-containing protein 80 precursor

      Status: VALIDATED

      Source sequence(s)
      AF506819, BM787873, BX647117, BX647817
      Consensus CDS
      CCDS2968.1
      UniProtKB/Swiss-Prot
      Q76M96
      Related
      ENSP00000206423, OTTHUMP00000214595, ENST00000206423, OTTHUMT00000354219
      Conserved Domains (1) summary
      pfam13778
      Location:140 – 270
      Blast Score: 276
      DUF4174; Domain of unknown function (DUF4174)

    2. NM_199512.1 → NP_955806.1  coiled-coil domain-containing protein 80 precursor

      Status: VALIDATED

      Source sequence(s)
      AF506819, BM787873, BX647117, BX647817
      Consensus CDS
      CCDS2968.1
      UniProtKB/Swiss-Prot
      Q76M96
      Related
      ENSP00000411814, OTTHUMP00000214596, ENST00000439685, OTTHUMT00000354221
      Conserved Domains (1) summary
      pfam13778
      Location:140 – 270
      Blast Score: 276
      DUF4174; Domain of unknown function (DUF4174)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p10 Primary Assembly

      Range
      112323407..112359977, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      109706775..109743319, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018914.1 Alternate CHM1_1.0

      Range
      112291798..112328365, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01061660.1 (29550..66094) None
    genomic AC048334.21 (137701..174271) None
    genomic AMYH01013392.1 (150422..186989) None
    genomic CH471052.2 EAW79663.1
      EAW79664.1
      EAW79665.1
    mRNA AB052098.1 BAD05134.1
    mRNA AB266387.1 BAF48770.1
    mRNA AF506819.1 AAM33633.1
    mRNA AK075210.1 BAC11475.1
    mRNA AK292881.1 BAF85570.1
    mRNA AK304561.1 BAG65354.1
    mRNA AL833034.1 CAH56325.1
    mRNA AY333429.1 AAQ96742.1
    mRNA AY526612.1 AAS92235.1
    mRNA AY548106.1 AAS66643.1
    mRNA AY548107.1 AAS66644.1
    mRNA AY726593.1 None
    mRNA BC023639.2 None
    mRNA BC042105.1 AAH42105.1
    mRNA BC042128.1 None
    mRNA BC073164.1 AAH73164.1
    mRNA BC086876.1 AAH86876.1
    mRNA BC110842.1 AAI10843.1
    mRNA BC116178.1 AAI16179.1
    mRNA BC116179.1 None
    mRNA BM787873.1 None
    mRNA BX647117.1 CAH56178.1
    mRNA BX647817.1 CAH56167.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q76M96.1 GenPept UniProtKB/Swiss-Prot:Q76M96

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

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