Collagen triple helix repeat containing 1

Collagen triple helix repeat containing 1 is a protein that in humans is encoded by the CTHRC1 gene.^[5]

CTHRC1
Identifiers
Aliases	CTHRC1, collagen triple helix repeat containing 1
External IDs	OMIM: 610635; MGI: 1915838; HomoloGene: 16320; GeneCards: CTHRC1; OMA:CTHRC1 - orthologs
Gene location (Human) Chr. Chromosome 8 (human)[1] Band 8q22.3 Start 103,371,538 bp[1] End 103,382,989 bp[1]
Gene location (Mouse) Chr. Chromosome 15 (mouse)[2] Band 15|15 B3.1 Start 38,940,327 bp[2] End 38,950,516 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia skin of hip visceral pleura cartilage tissue skin of arm gallbladder parietal pleura skin of thigh placenta stromal cell of endometrium Top expressed in cartilage of bone long bone cranium neurocranium bones of free part of lower limb facial skeleton bone of hand chondrocranium third toe phalanx of third toe More reference expression data BioGPS n/a
Gene ontology Molecular function Wnt-protein binding frizzled binding extracellular matrix structural constituent Cellular component cytoplasm collagen extracellular space extracellular region extracellular matrix collagen-containing extracellular matrix Biological process Wnt signaling pathway, planar cell polarity pathway positive regulation of osteoblast proliferation positive regulation of protein binding positive regulation of osteoblast differentiation cell migration inner ear receptor cell stereocilium organization negative regulation of canonical Wnt signaling pathway cochlea morphogenesis establishment of planar polarity involved in neural tube closure ossification involved in bone remodeling Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 115908 68588 Ensembl ENSG00000164932 ENSMUSG00000054196 UniProt Q96CG8 Q9D1D6 RefSeq (mRNA) NM_001256099 NM_138455 NM_026778 NM_001364812 NM_001364813 RefSeq (protein) NP_001243028 NP_612464 NP_081054 NP_001351741 NP_001351742 Location (UCSC) Chr 8: 103.37 – 103.38 Mb Chr 15: 38.94 – 38.95 Mb PubMed search [3] [4]
Wikidata
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Function

This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett's esophagus and esophageal adenocarcinoma. Alternatively, spliced transcript variants have been described.