CTHRC1
Collagen triple helix repeat-containing protein 1
Also known as: CTHR1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q96CG8
- Gene
- CTHRC1
- Ensembl
- ENSG00000164932
- Chromosome
- 8
- Canonical length
- 243 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
- Subcellular location
- Nucleoplasm
- Secretome location
- Secreted in other tissues
OverviewNCBI Gene
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 spliced transcript variants have been described. [provided by RefSeq, Jan 2012]
Canonical amino-acid sequenceUniProt
243 residues, UniProt reviewed canonical sequence.
>Q96CG8|CTHRC1
1 MRPQGPAASP QRLRGLLLLL LLQLPAPSSA SEIPKGKQKA QLRQREVVDL YNGMCLQGPA
61 GVPGRDGSPG ANGIPGTPGI PGRDGFKGEK GECLRESFEE SWTPNYKQCS WSSLNYGIDL
121 GKIAECTFTK MRSNSALRVL FSGSLRLKCR NACCQRWYFT FNGAECSGPL PIEAIIYLDQ
181 GSPEMNSTIN IHRTSSVEGL CEGIGAGLVD VAIWVGTCSD YPKGDASTGW NSVSRIIIEE
241 LPKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CTHRC1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.44
- Highest tissue expression
- 85 nTPM
Expression across tissuesHPA
Tissue
- placenta: 85 nTPM
- gallbladder: 82 nTPM
- urinary bladder: 79 nTPM
- adipose tissue: 68 nTPM
- blood vessel: 59 nTPM
- breast: 37 nTPM
Single-cell type
- hepatic stellate cells: 278 nCPM
- fibroblasts: 141 nCPM
- lymphatic endothelial cells: 80 nCPM
- plasma cells: 76 nCPM
- thymocytes: 53 nCPM
- epicardial cells: 43 nCPM
Immune cell
- NK-cell: 2.3 nTPM
- eosinophil: 0.8 nTPM
- plasmacytoid DC: 0.2 nTPM
- MAIT T-cell: 0.1 nTPM
- naive CD8 T-cell: 0.1 nTPM
- total PBMC: 0.1 nTPM
Brain region
- cerebellum: 19 nTPM
- cerebral cortex: 14 nTPM
- white matter: 14 nTPM
- pons: 12 nTPM
- hypothalamus: 12 nTPM
- medulla oblongata: 11 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CTHRC1.
Disease | AllUniProt
Conditions CTHRC1 is implicated in, by any mechanism.
- Barrett esophagus (BE) MIM:614266
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 48 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.4
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.63
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cochlea morphogenesis
- cyclooxygenase pathway
- establishment of planar polarity involved in neural tube closure
- inner ear receptor cell stereocilium organization
- negative regulation of canonical Wnt signaling pathway
- ossification involved in bone remodeling
- osteoblast differentiation
- osteoblast proliferation
- positive regulation of osteoblast differentiation
- positive regulation of osteoblast proliferation
- Wnt signaling pathway, planar cell polarity pathway
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- CTHRC1, C-terminal domain
- CTHRC1, C-terminal domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CTHRC1 as an antibody target. Whether an autoantibody or antibody against CTHRC1 could matter depends on whether native CTHRC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CTHRC1 is annotated as secreted, so native CTHRC1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label CTHRC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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