• Gene id: 115908

Gene Summary

• Gene Symbol: CTHRC1   Gene   UCSC   Ensembl
• Gene name: collagen triple helix repeat containing 1
• Alternate names: collagen triple helix repeat-containing protein 1,
• Gene location: 8q22.3 (103371537: 103382988)     Exons: 5     NC_000008.11
• Gene summary(Entrez): 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 esophagus and esophageal adenocarcinoma. Alternatively spli
• OMIM: 600446

Protein Summary

• Protein general information: Q96CG8  
  • Name: Collagen triple helix repeat containing protein 1 (Protein NMTC1)
  • Length: 243  
  • Mass: 26224
  • Tissue specificity: Isoform 1 is expressed in calcified atherosclerotic plaque and chondrocyte-like cells. {ECO
• Sequence:

  MRPQGPAASPQRLRGLLLLLLLQLPAPSSASEIPKGKQKAQLRQREVVDLYNGMCLQGPAGVPGRDGSPGANGIP
  GTPGIPGRDGFKGEKGECLRESFEESWTPNYKQCSWSSLNYGIDLGKIAECTFTKMRSNSALRVLFSGSLRLKCR
  NACCQRWYFTFNGAECSGPLPIEAIIYLDQGSPEMNSTINIHRTSSVEGLCEGIGAGLVDVAIWVGTCSDYPKGD
  ASTGWNSVSRIIIEELPK

• Structural information:
  • Protein Domains: (57..9-)
    (/note="Collagen-like"-)
  • STRING: ENSP00000330523
• Other Databases: GeneCards:  CTHRC1  Malacards:  CTHRC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0090177	establishment of planar polarity involved in neural tube closure	IEA	biological process
GO:0060122	inner ear receptor cell stereocilium organization	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0043932	ossification involved in bone remodeling	IEA	biological process
GO:0033690	positive regulation of osteoblast proliferation	IEA	biological process
GO:0032092	positive regulation of protein binding	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0016477	cell migration	IEA	biological process
GO:0090103	cochlea morphogenesis	IEA	biological process
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0060071	Wnt signaling pathway, planar cell polarity pathway	IEA	biological process
GO:0017147	Wnt-protein binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005109	frizzled binding	IEA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component

Diseases

Associated diseases	References
Barrett esophagus	KEGG:H01901
Barrett esophagus	KEGG:H01901
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881