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    Ccdc93 coiled-coil domain containing 93 [ Mus musculus (house mouse) ]

    Gene ID: 70829, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ccdc93provided by MGI
    Official Full Name
    coiled-coil domain containing 93provided by MGI
    Primary source
    MGI:MGI:1918079
    See related
    Ensembl:ENSMUSG00000026339 AllianceGenome:MGI:1918079
    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
    4633402D15Rik; 9230102M16Rik
    Summary
    Predicted to be involved in Golgi to plasma membrane transport and endocytic recycling. Predicted to be located in intracellular membrane-bounded organelle. Is expressed in adrenal gland; adrenal medulla; diencephalon; and midbrain floor plate. Orthologous to human CCDC93 (coiled-coil domain containing 93). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 6.5), thymus adult (RPKM 6.3) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ccdc93 in Genome Data Viewer
    Location:
    1 E2.3; 1 52.97 cM
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (121358796..121434189)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (121431067..121506460)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 2210011K15 gene Neighboring gene STARR-seq mESC enhancer starr_02075 Neighboring gene STARR-positive B cell enhancer ABC_E10030 Neighboring gene predicted gene, 35243 Neighboring gene 5-hydroxytryptamine (serotonin) receptor 5B Neighboring gene STARR-seq mESC enhancer starr_02076 Neighboring gene DEAD box helicase 18

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Genetic variation in CCDC93 is associated with elevated central systolic blood pressure, impaired arterial relaxation, and mitochondrial dysfunction. Kumar N, et al. PLoS Genet, 2024 Sep. PMID 39250516, Free PMC Article
    2. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
    3. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    4. BraInMap Elucidates the Macromolecular Connectivity Landscape of Mammalian Brain. Pourhaghighi R, et al. Cell Syst, 2020 Apr 22. PMID 32325033, Free PMC Article
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 Golgi to plasma membrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Golgi to plasma membrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in Golgi to plasma membrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endocytic recycling ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endocytic recycling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 93

    NCBI Reference Sequences (RefSeq)

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    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_001025156.2 → NP_001020327.1  coiled-coil domain-containing protein 93 isoform a

      See identical proteins and their annotated locations for NP_001020327.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC111011, BC054083, BY136404, CO042243
      Consensus CDS
      CCDS15237.1
      UniProtKB/Swiss-Prot
      Q3TX53, Q7TQK5
      UniProtKB/TrEMBL
      Q8BUE0
      Related
      ENSMUSP00000043442.10, ENSMUST00000036025.16
      Conserved Domains (2) summary
      pfam09762
      Location:29 → 206
      KOG2701; Coiled-coil domain-containing protein (DUF2037)
      cl12013
      Location:241 → 426
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    2. NM_029955.3 → NP_084231.2  coiled-coil domain-containing protein 93 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the mid-coding region, compared to variant 1, resulting in a protein (isoform c) that is one amino acid shorter than isoform a.
      Source sequence(s)
      AC111011, AK085701, BY136404, CO042243
      Consensus CDS
      CCDS15238.2
      UniProtKB/TrEMBL
      E9QAD4, Q8BUE0
      Related
      ENSMUSP00000108240.2, ENSMUST00000112621.2
      Conserved Domains (2) summary
      pfam09762
      Location:29 → 206
      KOG2701; Coiled-coil domain-containing protein (DUF2037)
      cl12013
      Location:241 → 425
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      121358796..121434189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_027567.2: Suppressed sequence

      Description
      NM_027567.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7TQK5.1 GenPept UniProtKB/Swiss-Prot:Q7TQK5

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
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