Collagen triple helix repeat containing 1

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)
End	103,382,989 bp
Gene location (Mouse)
Chr.	Chromosome 15 (mouse)
End	38,950,516 bp
RNA expression pattern
	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
	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
	115908
	68588
	ENSG00000164932
	ENSMUSG00000054196
	Q96CG8
	Q9D1D6
	NM_001256099; NM_138455
	NM_026778; NM_001364812; NM_001364813
	NP_001243028; NP_612464
	NP_081054; NP_001351741; NP_001351742
	Wikidata
View/Edit Human	View/Edit Mouse

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

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.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000164932 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000054196 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: Collagen triple helix repeat containing 1". Retrieved 2017-07-25.

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.