C1ORF146 Gene

Name chromosome 1 open reading frame 146
Description Predicted to be involved in reciprocal meiotic recombination and synaptonemal complex assembly. Predicted to be active in chromosome. [provided by Alliance of Genome Resources, Mar 2025]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Recent studies suggest that C1orf146 (also known in its functional context as SPO16) may exert multifaceted roles in cellular physiology. In mammals, C1orf146 has been identified as the ortholog of the yeast Spo16 protein, where it interacts with SHOC1/MZIP2 and is essential for meiotic recombination. Specifically, the SPO16–SHOC1 complex stabilizes key recombination proteins and facilitates the processing of DNA double‐strand break repair intermediates into crossovers, thus ensuring accurate homologous chromosome segregation in meiosis (1).\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n In addition to its meiotic role, comparative genomic studies have revealed that certain coding regions can serve dual functions. These analyses indicate that exonic sequences—including those of genes such as C1orf146—may also act as long‐range cis‐regulatory elements. This dual coding–regulatory functionality, conserved across vertebrates, emphasizes that protein‐coding exons can be under selection pressures for both their protein products and their regulatory contributions (2).\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Furthermore, gene expression profiling in the adult rodent brain has uncovered that some highly conserved, vertebrate‐specific proteins show distinct regional expression patterns. For instance, a gene expressed almost exclusively in particular cortical layers and specific brain regions hints at similar specialized neuronal roles that might be anticipated for C1orf146, implicating it in the regulation of neural circuitry and function (3).\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Lastly, systems‐level analyses of gene co-expression networks from monozygotic twins have begun to delineate modules of genes associated with metabolic traits such as body mass index. Although a direct link between C1orf146 and obesity has not been firmly established, these studies underscore the complexity of gene regulatory networks and suggest potential, yet-to-be‐explored connections between such conserved genes and metabolic regulation (4).\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings underscore the evolutionary conservation and potential pleiotropic functions of C1orf146 in promoting meiotic crossovers, contributing to dual regulatory roles in genomic contexts, and possibly influencing specialized neuronal and metabolic functions.\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n (1)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "  (2)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "  (3)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "  (4)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Qianting Zhang, Shu-Yan Ji, Kiran Busayavalasa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SPO16 binds SHOC1 to promote homologous recombination and crossing-over in meiotic prophase I."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Adv (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/sciadv.aau9780"}], "href": "https://doi.org/10.1126/sciadv.aau9780"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30746471"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30746471"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Xianjun Dong, Pavla Navratilova, David Fredman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exonic remnants of whole-genome duplication reveal cis-regulatory function of coding exons."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gkp1124"}], "href": "https://doi.org/10.1093/nar/gkp1124"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19969543"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19969543"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Kari M Ersland, Bjarte Håvik, Johanne Egge Rinholm, et al. "}, {"type": "b", "children": [{"type": "t", "text": "LOC689986, a unique gene showing specific expression in restricted areas of the rodent neocortex."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Neurosci (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2202-14-68"}], "href": "https://doi.org/10.1186/1471-2202-14-68"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23844656"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23844656"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Weijing Wang, Wenjie Jiang, Lin Hou, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Weighted gene co-expression network analysis of expression data of monozygotic twins identifies specific modules and hub genes related to BMI."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Genomics (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12864-017-4257-6"}], "href": "https://doi.org/10.1186/s12864-017-4257-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29132311"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29132311"}]}]}]}
Synonyms C1orf146
Proteins CA146_HUMAN
NCBI Gene ID 388649
API
Download Associations
Predicted Functions View C1ORF146's ARCHS4 Predicted Functions.
Co-expressed Genes View C1ORF146's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View C1ORF146's ARCHS4 Predicted Functions.

Functional Associations

C1ORF146 has 1,114 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, functional term, phrase or reference, chemical, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 40 datasets.

Click the + buttons to view associations for C1ORF146 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles tissues with high or low expression of C1ORF146 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of C1ORF146 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of C1ORF146 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
CellMarker Gene-Cell Type Associations cell types associated with C1ORF146 gene from the CellMarker Gene-Cell Type Associations dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of C1ORF146 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of C1ORF146 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of C1ORF146 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by C1ORF146 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with C1ORF146 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at C1ORF146 gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of C1ORF146 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of C1ORF146 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells PubMedIDs of publications reporting gene signatures containing C1ORF146 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of C1ORF146 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GO Biological Process Annotations 2023 biological processes involving C1ORF146 gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving C1ORF146 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2023 cellular components containing C1ORF146 protein from the curated GO Cellular Component Annotations 2023 dataset.
GO Cellular Component Annotations 2025 cellular components containing C1ORF146 protein from the curated GO Cellular Component Annotations 2025 dataset.
GTEx eQTL 2025 SNPs regulating expression of C1ORF146 gene from the GTEx eQTL 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of C1ORF146 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 C1ORF146 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
GWASdb SNP-Disease Associations diseases associated with C1ORF146 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
GWASdb SNP-Phenotype Associations phenotypes associated with C1ORF146 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for C1ORF146 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of C1ORF146 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of C1ORF146 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of C1ORF146 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain C1ORF146 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by C1ORF146 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of C1ORF146 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of C1ORF146 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations gene perturbations changing expression of C1ORF146 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles cell types and tissues with high or low DNA methylation of C1ORF146 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of C1ORF146 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of C1ORF146 gene from the RummaGEO Gene Perturbation Signatures dataset.
TargetScan Predicted Conserved microRNA Targets microRNAs regulating expression of C1ORF146 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of C1ORF146 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of C1ORF146 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores tissues with high expression of C1ORF146 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.
WikiPathways Pathways 2024 pathways involving C1ORF146 protein from the WikiPathways Pathways 2024 dataset.