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    Cthrc1 collagen triple helix repeat containing 1 [ Mus musculus (house mouse) ]

    Gene ID: 68588, updated on 9-Dec-2024

    Summary

    Official Symbol
    Cthrc1provided by MGI
    Official Full Name
    collagen triple helix repeat containing 1provided by MGI
    Primary source
    MGI:MGI:1915838
    See related
    Ensembl:ENSMUSG00000054196 AllianceGenome:MGI:1915838
    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
    1110014B07Rik
    Summary
    Enables Wnt-protein binding activity and frizzled binding activity. Acts upstream of or within several processes, including establishment of planar polarity involved in neural tube closure; inner ear development; and negative regulation of canonical Wnt signaling pathway. Located in sarcoplasm. Is expressed in several structures, including central nervous system; genitourinary system; heart; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in Barrett's esophagus. Orthologous to human CTHRC1 (collagen triple helix repeat containing 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in limb E14.5 (RPKM 91.9), CNS E14 (RPKM 19.0) and 5 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Cthrc1 in Genome Data Viewer
    Location:
    15 B3.1; 15 15.35 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (38940327..38950516)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (39076932..39087121)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 24789 Neighboring gene predicted gene 7194 Neighboring gene STARR-seq mESC enhancer starr_38471 Neighboring gene STARR-seq mESC enhancer starr_38472 Neighboring gene solute carrier family 25, member 32 Neighboring gene STARR-positive B cell enhancer mm9_chr15:38944202-38944502 Neighboring gene DDB1 and CUL4 associated factor 13 Neighboring gene STARR-seq mESC enhancer starr_38473

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables Wnt-protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables frizzled binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables prostaglandin-endoperoxide synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within Wnt signaling pathway, planar cell polarity pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell migration ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cochlea morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cyclooxygenase pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within establishment of planar polarity involved in neural tube closure IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within inner ear receptor cell stereocilium organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within ossification involved in bone remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of osteoblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of osteoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of osteoblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular space HDA PubMed 
    located_in extracellular space ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sarcoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    collagen triple helix repeat-containing protein 1

    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_001364812.1NP_001351741.1  collagen triple helix repeat-containing protein 1 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      AC164883
      Consensus CDS
      CCDS88754.1
      UniProtKB/TrEMBL
      A0A2I3BPR1, B7ZMQ8
      Related
      ENSMUSP00000153886.2, ENSMUST00000226433.2
    2. NM_001364813.1NP_001351742.1  collagen triple helix repeat-containing protein 1 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC164883
      UniProtKB/TrEMBL
      A2RRY6
      Conserved Domains (1) summary
      pfam01391
      Location:5991
      Collagen; Collagen triple helix repeat (20 copies)
    3. NM_026778.3NP_081054.1  collagen triple helix repeat-containing protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_081054.1

      Status: VALIDATED

      Source sequence(s)
      AK151282, CD741549
      Consensus CDS
      CCDS27442.1
      UniProtKB/Swiss-Prot
      Q3UAP6, Q9D1D6
      UniProtKB/TrEMBL
      A2RRY6
      Related
      ENSMUSP00000070018.4, ENSMUST00000067072.5
      Conserved Domains (1) summary
      pfam01391
      Location:5991
      Collagen; Collagen triple helix repeat (20 copies)

    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
      38940327..38950516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)