Format

Send to:

Choose Destination
    • Showing Current items.

    Ccdc130 coiled-coil domain containing 130 [ Mus musculus (house mouse) ]

    Gene ID: 67736, updated on 23-Jun-2021

    Summary

    Official Symbol
    Ccdc130provided by MGI
    Official Full Name
    coiled-coil domain containing 130provided by MGI
    Primary source
    MGI:MGI:1914986
    See related
    Ensembl:ENSMUSG00000004994
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    C77430; 4930527D15Rik
    Expression
    Ubiquitous expression in testis adult (RPKM 9.6), CNS E14 (RPKM 4.2) and 28 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Ccdc130 in Genome Data Viewer
    Location:
    8; 8 C2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (84984396..84997087, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (84257767..84270458, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (86781694..86794259, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene zinc finger SWIM-type containing 4 Neighboring gene DNA segment, Chr 8, ERATO Doi 738, expressed Neighboring gene methylthioribose-1-phosphate isomerase 1 Neighboring gene THO complex 6 homolog pseudogene Neighboring gene calcium channel, voltage-dependent, P/Q type, alpha 1A subunit Neighboring gene predicted gene, 23626

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    involved_in RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of U2-type spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of post-mRNA release spliceosomal complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    coiled-coil domain-containing protein 130

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001294281.1NP_001281210.1  coiled-coil domain-containing protein 130 isoform 2

      See identical proteins and their annotated locations for NP_001281210.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC122794, AK015911, CJ148143
      Consensus CDS
      CCDS80906.1
      UniProtKB/Swiss-Prot
      Q9D516
      Related
      ENSMUSP00000005120.6, ENSMUST00000005120.12
      Conserved Domains (2) summary
      COG5134
      Location:8191
      COG5134; Uncharacterized conserved protein [Function unknown]
      pfam04502
      Location:8198
      DUF572; Family of unknown function (DUF572)
    2. NM_026350.3NP_080626.1  coiled-coil domain-containing protein 130 isoform 1

      See identical proteins and their annotated locations for NP_080626.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC122794, AK015911, CJ148143
      Consensus CDS
      CCDS40409.1
      UniProtKB/Swiss-Prot
      Q9D516
      Related
      ENSMUSP00000096177.4, ENSMUST00000098578.10
      Conserved Domains (1) summary
      pfam04502
      Location:9332
      DUF572; Family of unknown function (DUF572)

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      84984396..84997087 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006531316.2XP_006531379.1  coiled-coil domain-containing protein 130 isoform X2

      Conserved Domains (1) summary
      pfam04502
      Location:1268
      DUF572; Family of unknown function (DUF572)
    2. XM_006531315.5XP_006531378.1  coiled-coil domain-containing protein 130 isoform X1

      See identical proteins and their annotated locations for XP_006531378.1

      UniProtKB/Swiss-Prot
      Q9D516
      Conserved Domains (1) summary
      pfam04502
      Location:9332
      DUF572; Family of unknown function (DUF572)
    Support Center