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    Ccdc134 coiled-coil domain containing 134 [ Mus musculus (house mouse) ]

    Gene ID: 76457, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ccdc134provided by MGI
    Official Full Name
    coiled-coil domain containing 134provided by MGI
    Primary source
    MGI:MGI:1923707
    See related
    Ensembl:ENSMUSG00000068114 AllianceGenome:MGI:1923707
    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
    2310042L06Rik
    Summary
    Acts upstream of or within several processes, including angiogenesis; embryonic organ development; and ventricular system development. Predicted to be located in cytosol and intracellular membrane-bounded organelle. Is expressed in several structures, including blood; endoderm; liver; neural tube; and somite. Human ortholog(s) of this gene implicated in osteogenesis imperfecta. Orthologous to human CCDC134 (coiled-coil domain containing 134). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 6.8), thymus adult (RPKM 5.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ccdc134 in Genome Data Viewer
    Location:
    15 E1; 15 38.47 cM
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (82012101..82026404)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (82127898..82142203)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4930407I10 gene Neighboring gene STARR-seq mESC enhancer starr_39280 Neighboring gene meiotic double-stranded break formation protein 1 Neighboring gene STARR-seq mESC enhancer starr_39281 Neighboring gene STARR-positive B cell enhancer ABC_E8600 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:81965919-81966120 Neighboring gene STARR-seq mESC enhancer starr_39283 Neighboring gene sterol regulatory element binding factor 2 Neighboring gene STARR-positive B cell enhancer ABC_E5500 Neighboring gene CapStarr-seq enhancer MGSCv37_chr15:81996613-81996854 Neighboring gene STARR-seq mESC enhancer starr_39286 Neighboring gene microRNA 33 Neighboring gene shisa family member 8

    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
    • 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. CCDC134 facilitates T cell activation through the regulation of early T cell receptor signaling. Zhang T, et al. Front Immunol, 2023. PMID 37234153, Free PMC Article
    2. Ccdc134 deficiency impairs cerebellar development and motor coordination. Yin S, et al. Genes Brain Behav, 2021 Sep. PMID 34382738
    3. CCDC134 serves a crucial role in embryonic development. Yu B, et al. Int J Mol Med, 2018 Jan. PMID 29115376, Free PMC Article
    4. Mouse screen reveals multiple new genes underlying mouse and human hearing loss. Ingham NJ, et al. PLoS Biol, 2019 Apr. PMID 30973865, Free PMC Article
    5. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CCDC134 facilitates T cell activation through the regulation of early T cell receptor signaling.
      Title: CCDC134 facilitates T cell activation through the regulation of early T cell receptor signaling.
    2. The present results suggest that Ccdc134 may have specific biological functions in regulating mouse embryonic development
      Title: CCDC134 serves a crucial role in embryonic development.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    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
    acts_upstream_of_or_within angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic hemopoiesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within embryonic liver development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within placenta development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of ossification ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within ventricular system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 134

    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_001326588.1 → NP_001313517.1  coiled-coil domain-containing protein 134 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate splice site in the 5' UTR, resulting in the use of a downstream translational start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC102176, BC072586
      UniProtKB/TrEMBL
      Q3V212
      Conserved Domains (1) summary
      pfam15002
      Location:2 → 148
      ERK-JNK_inhib; ERK and JNK pathways, inhibitor

    2. NM_172428.2 → NP_766016.2  coiled-coil domain-containing protein 134 isoform 1 precursor

      See identical proteins and their annotated locations for NP_766016.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK145747, BC072586, CJ106860
      Consensus CDS
      CCDS37155.1
      UniProtKB/Swiss-Prot
      Q3U3V9, Q8C7V8
      UniProtKB/TrEMBL
      Q3V212
      Related
      ENSMUSP00000086578.5, ENSMUST00000089174.6
      Conserved Domains (1) summary
      pfam15002
      Location:23 → 185
      ERK-JNK_inhib; ERK and JNK pathways, inhibitor

    RNA

    1. NR_137170.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternal internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK132115, AK145747, BC072586
      Related
      ENSMUST00000229411.2

    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_000081.7 Reference GRCm39 C57BL/6J

      Range
      82012101..82026404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036159624.1 → XP_036015517.1  coiled-coil domain-containing protein 134 isoform X1

      Conserved Domains (1) summary
      pfam15002
      Location:27 → 148
      ERK-JNK_inhib; ERK and JNK pathways, inhibitor

    RNA

    1. XR_001781575.3 RNA Sequence

    2. XR_004938877.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C7V8.1 GenPept UniProtKB/Swiss-Prot:Q8C7V8

    Gene LinkOut

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

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