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

Gene ID: 70829, updated on 4-Nov-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, Nov 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

Expression

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

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
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