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

Gene ID: 76457, updated on 5-Mar-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 angiogenesis and animal organ development. Predicted to be located in endoplasmic reticulum; extracellular region; and nucleus. Is expressed in several structures, including blood; endoderm; liver; neural tube; and somite. Orthologous to human CCDC134 (coiled-coil domain containing 134). [provided by Alliance of Genome Resources, Apr 2022]
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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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 serves a crucial role in embryonic development. Yu B, et al. Int J Mol Med, 2018 Jan. PMID 29115376, 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. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, 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 (14) 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)
  • Targeted (3)  1 citation
  • Endonuclease-mediated (2) 

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 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 cytoplasm 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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