Collagen triple helix repeat containing 1

Protein-coding gene in the species Homo sapiens

CTHRC1

Identifiers

CTHRC1 , collagen triple helix repeat containing 1

External IDs

OMIM: 610635; MGI: 1915838; HomoloGene: 16320; GeneCards: CTHRC1; OMA:CTHRC1 - orthologs

Gene location (Human)
Chromosome 8 (human)
Chr.	Chromosome 8 (human) ^[1]
Chromosome 8 (human) Genomic location for CTHRC1 Genomic location for CTHRC1
Band	8q22.3	Start	103,371,538 bp ^[1]
Band	8q22.3	End	103,382,989 bp ^[1]

Gene location (Mouse)
Chromosome 15 (mouse)
Chr.	Chromosome 15 (mouse)^[2]
Chromosome 15 (mouse) Genomic location for CTHRC1 Genomic location for CTHRC1
Band	15\|15 B3.1	Start	38,940,327 bp ^[2]
Band	15\|15 B3.1	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

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

[edit ]

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

[edit ]

^ ^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年07月25日.

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.201211004 . 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.

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Function

References

Further reading