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

    Gene ID: 151887, updated on 9-Jul-2017
    Official Symbol
    CCDC80provided by HGNC
    Official Full Name
    coiled-coil domain containing 80provided by HGNC
    Primary source
    HGNC:HGNC:30649
    See related
    Ensembl:ENSG00000091986 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
    Orthologs
    Location:
    3q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (112604386..112641143, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (112323407..112359977, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene autophagy related 3 Neighboring gene solute carrier family 35 member A5 Neighboring gene long intergenic non-protein coding RNA 1279 Neighboring gene methionine adenosyltransferase 2A pseudogene Neighboring gene long intergenic non-protein coding RNA 2042

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    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
     
    extracellular space 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
    down-regulated by oncogenes protein 1
    nuclear envelope protein okuribin
    steroid sensitive gene 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_199511.2NP_955805.1  coiled-coil domain-containing protein 80 precursor

      See identical proteins and their annotated locations for NP_955805.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC110842, BC116178, CN360806, DA573543
      Consensus CDS
      CCDS2968.1
      UniProtKB/Swiss-Prot
      Q76M96
      Related
      ENSP00000206423.3, OTTHUMP00000214595, ENST00000206423.7, OTTHUMT00000354219
      Conserved Domains (2) summary
      pfam13778
      Location:771900
      DUF4174; Domain of unknown function (DUF4174)
      pfam15961
      Location:28150
      DUF4764; Domain of unknown function (DUF4764)
    2. NM_199512.2NP_955806.1  coiled-coil domain-containing protein 80 precursor

      See identical proteins and their annotated locations for NP_955806.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC110842, BC116178, CN360806, DA573543
      Consensus CDS
      CCDS2968.1
      UniProtKB/Swiss-Prot
      Q76M96
      Related
      ENSP00000411814.2, OTTHUMP00000214596, ENST00000439685.6, OTTHUMT00000354221
      Conserved Domains (2) summary
      pfam13778
      Location:771900
      DUF4174; Domain of unknown function (DUF4174)
      pfam15961
      Location:28150
      DUF4764; Domain of unknown function (DUF4764)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      112604386..112641143 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      112287144..112323890 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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