| Name | chromosome 1 open reading frame 167 |
| Description | Implicated in coronary artery disease. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n C1orf167 is an uncharacterized protein that has emerged in several disease‐related studies, suggesting it may play a role in diverse biological processes. In a study of proliferative diabetic retinopathy, proteomic analysis revealed that an isoform of C1orf167 was expressed in healthy CD34⁺ cells after exposure to diabetic vitreous, indicating that changes in its expression may be linked to the altered vascular and paracrine functions observed in the ischemic retinal microenvironment."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In another investigation examining circulating natriuretic peptide levels in the context of cardiovascular disease risk, C1orf167 was found within a gene cluster—alongside MTHFR, CLCN6, NPPA, and NPPB—whose polymorphisms were associated with variations in natriuretic peptide concentration and early changes in diastolic function. This suggests that C1orf167 might be linked either directly or indirectly to cardiovascular homeostasis and metabolic features."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Additionally, whole‐exome sequencing in familial cases of mandibular prognathism identified C1orf167 as one of three novel candidate genes potentially involved in mandibular development and macrognathism, which points toward a contributory role in craniofacial morphogenesis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Together, these findings—albeit in distinct clinical contexts—indicate that while the precise biological functions of C1orf167 remain to be fully elucidated, its modulation is associated with pathological alterations in vascular cell function, cardiovascular regulation, and craniofacial development.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sankarathi Balaiya, Maria B Grant, Joshua Priluck, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Growth factors/chemokines in diabetic vitreous and aqueous alter the function of bone marrow-derived progenitor (CD34⁺) cells in humans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Physiol Endocrinol Metab (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/ajpendo.00253.2014"}], "href": "https://doi.org/10.1152/ajpendo.00253.2014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25159325"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25159325"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Constance Xhaard, Raphaël Rouget, Nicolas Vodovar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impact of natriuretic peptide polymorphisms on diastolic and metabolic function in a populational cohort: insights from the STANISLAS cohort."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "ESC Heart Fail (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ehf2.13674"}], "href": "https://doi.org/10.1002/ehf2.13674"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34734498"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34734498"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Pamela G Genno, Georges M Nemer, Savo Bou Zein Eddine, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Three novel genes tied to mandibular prognathism in eastern Mediterranean families."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Orthod Dentofacial Orthop (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajodo.2018.08.020"}], "href": "https://doi.org/10.1016/j.ajodo.2018.08.020"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31256822"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31256822"}]}]}]}
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| Synonyms | C1orf167 |
| Proteins | CA167_HUMAN |
| NCBI Gene ID | 284498 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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C1ORF167 has 987 functional associations with biological entities spanning 7 categories (organism, functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 32 datasets.
Click the + buttons to view associations for C1ORF167 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of C1ORF167 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of C1ORF167 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with C1ORF167 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with C1ORF167 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with C1ORF167 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with C1ORF167 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with C1ORF167 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| DisGeNET Gene-Phenotype Associations | phenotypes associated with C1ORF167 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
| GAD Gene-Disease Associations | diseases associated with C1ORF167 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of C1ORF167 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of C1ORF167 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of C1ORF167 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of C1ORF167 gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of C1ORF167 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of C1ORF167 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with C1ORF167 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with C1ORF167 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of C1ORF167 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of C1ORF167 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of C1ORF167 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with C1ORF167 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of C1ORF167 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain C1ORF167 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of C1ORF167 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| NURSA Protein Complexes | protein complexs containing C1ORF167 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of C1ORF167 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving C1ORF167 protein from the Wikipathways PFOCR 2024 dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of C1ORF167 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of C1ORF167 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of C1ORF167 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of C1ORF167 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with C1ORF167 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
