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

Gene ID: 68588, updated on 12-May-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 ossification involved in bone remodeling. Located in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; 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, Apr 2022]
Expression
Biased expression in limb E14.5 (RPKM 91.9), CNS E14 (RPKM 19.0) and 5 other tissues See more
Orthologs
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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)
  • Endonuclease-mediated (5) 
  • Targeted (6)  1 citation

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 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 
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
 
located_in extracellular matrix ISO
Inferred from Sequence Orthology
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular space HDA PubMed 
located_in extracellular space ISO
Inferred from Sequence Orthology
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)

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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_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)