Collagen triple helix repeat containing 1

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

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) Band 8q22.3 Start 103,371,538 bp End 103,382,989 bp
Gene location (Mouse) Chr. Chromosome 15 (mouse) Band 15|15 B3.1 Start 38,940,327 bp End 38,950,516 bp
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
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.

Further reading

• Pyagay P, Heroult M, Wang Q, Lehnert W, Belden J, Liaw L, Friesel RE, Lindner V (2005). "Collagen triple helix repeat containing 1, a novel secreted protein in injured and diseased arteries, inhibits collagen expression and promotes cell migration". Circ. Res. 96 (2): 261–8. doi:10.1161/01.RES.0000154262.07264.12. PMID 15618538. S2CID 13924229.
• Tang L, Dai DL, Su M, Martinka M, Li G, Zhou Y (2006). "Aberrant expression of collagen triple helix repeat containing 1 in human solid cancers". Clin. Cancer Res. 12 (12): 3716–22. doi:10.1158/1078-0432.CCR-06-0030. PMID 16778098. S2CID 18449898.
• Leclair RJ, Wang Q, Benson MA, Prudovsky I, Lindner V (2008). "Intracellular localization of Cthrc1 characterizes differentiated smooth muscle". Arterioscler. Thromb. Vasc. Biol. 28 (7): 1332–8. doi:10.1161/ATVBAHA.108.166579. PMC 3508505. PMID 18467647.
• Landa I, Ruiz-Llorente S, Montero-Conde C, Inglada-Pérez L, Schiavi F, Leskelä S, Pita G, Milne R, Maravall J, Ramos I, Andía V, Rodríguez-Poyo P, Jara-Albarrán A, Meoro A, del Peso C, Arribas L, Iglesias P, Caballero J, Serrano J, Picó A, Pomares F, Giménez G, López-Mondéjar P, Castello R, Merante-Boschin I, Pelizzo MR, Mauricio D, Opocher G, Rodríguez-Antona C, González-Neira A, Matías-Guiu X, Santisteban P, Robledo M (2009). "The variant rs1867277 in FOXE1 gene confers thyroid cancer susceptibility through the recruitment of USF1/USF2 transcription factors". PLOS Genet. 5 (9): e1000637. doi:10.1371/journal.pgen.1000637. PMC 2727793. PMID 19730683.
• Orloff M, Peterson C, He X, Ganapathi S, Heald B, Yang YR, Bebek G, Romigh T, Song JH, Wu W, David S, Cheng Y, Meltzer SJ, Eng C (2011). "Germline mutations in MSR1, ASCC1, and CTHRC1 in patients with Barrett esophagus and esophageal adenocarcinoma". JAMA. 306 (4): 410–9. doi:10.1001/jama.2011.1029. PMC 3574553. PMID 21791690.
• Wang P, Wang YC, Chen XY, Shen ZY, Cao H, Zhang YJ, Yu J, Zhu JD, Lu YY, Fang JY (2012). "CTHRC1 is upregulated by promoter demethylation and transforming growth factor-β1 and may be associated with metastasis in human gastric cancer". Cancer Sci. 103 (7): 1327–33. doi:10.1111/j.1349-7006.2012.02292.x. PMC 7659176. PMID 22590977. S2CID 2295293.
• Park EH, Kim S, Jo JY, Kim SJ, Hwang Y, Kim JM, Song SY, Lee DK, Koh SS (2013). "Collagen triple helix repeat containing-1 promotes pancreatic cancer progression by regulating migration and adhesion of tumor cells". Carcinogenesis. 34 (3): 694–702. doi:10.1093/carcin/bgs378. PMID 23222813.
• Spector I, Zilberstein Y, Lavy A, Genin O, Barzilai-Tutsch H, Bodanovsky A, Halevy O, Pines M (2013). "The involvement of collagen triple helix repeat containing 1 in muscular dystrophies". Am. J. Pathol. 182 (3): 905–16. doi:10.1016/j.ajpath.2012.11.004. PMID 23274062.
• Tan F, Liu F, Liu H, Hu Y, Liu D, Li G (2013). "CTHRC1 is associated with peritoneal carcinomatosis in colorectal cancer: a new predictor for prognosis". Med. Oncol. 30 (1): 473. doi:10.1007/s12032-013-0473-3. PMID 23359115. S2CID 36232939.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.