| Name | chromosome 11 open reading frame 40 |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe collection of studies provides a multifaceted view of neuromuscular junction regulation by detailing several aspects of acetylcholine receptor (AChR) structure and function. One study examined how local anaesthetics, such as proadifen and adiphenine, act as non‐competitive inhibitors and alter receptor affinity states."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Another investigation into slow‐channel congenital myasthenic syndrome demonstrated how specific gain‐of‐function mutations in AChRs accelerate desensitization and contribute to muscle weakness."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Furthermore, research into CDK2’s role revealed that neuregulin-induced activation of this kinase is crucial for the expression of the adult-type AChR epsilon subunit in postmitotic muscle cells."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAdditional studies addressed the molecular events underlying channel gating by focusing on the pre-M1 linker and associated residues, as well as the developmental targeting of activating histone modifications at the AChR epsilon subunit locus."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Despite the extensive insights provided into AChR modulation, channel kinetics, and transcriptional regulation, none of these abstracts mention or assess any functional role for C11orf40. Therefore, while the studies illuminate key processes in neuromuscular signal transduction and synapse maturation, the contribution of C11orf40 remains undefined. Further investigations will be required to determine whether C11orf40 intersects with these pathways or exerts its effects via alternative mechanisms."}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Guillermo Spitzmaul, Fernanda Gumilar, James P Dilger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The local anaesthetics proadifen and adiphenine inhibit nicotinic receptors by different molecular mechanisms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Pharmacol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1476-5381.2009.00214.x"}], "href": "https://doi.org/10.1111/j.1476-5381.2009.00214.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19422391"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19422391"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Sergio Elenes, Michael Decker, Gisela D Cymes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Decremental response to high-frequency trains of acetylcholine pulses but unaltered fractional Ca2+ currents in a panel of \"slow-channel syndrome\" nicotinic receptor mutants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Gen Physiol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1085/jgp.200810089"}], "href": "https://doi.org/10.1085/jgp.200810089"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19171769"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19171769"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Gang Lu, Karen A Seta, David E Millhorn "}, {"type": "b", "children": [{"type": "t", "text": "Novel role for cyclin-dependent kinase 2 in neuregulin-induced acetylcholine receptor epsilon subunit expression in differentiated myotubes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M412498200"}], "href": "https://doi.org/10.1074/jbc.M412498200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15824106"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15824106"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Carter A Herndon, Jeff Snell, Larry Fromm "}, {"type": "b", "children": [{"type": "t", "text": "Chromatin modifications that support acetylcholine receptor gene activation are established during muscle cell determination and differentiation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Rep (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11033-010-0227-7"}], "href": "https://doi.org/10.1007/s11033-010-0227-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20574709"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20574709"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Iva Bruhova, Anthony Auerbach "}, {"type": "b", "children": [{"type": "t", "text": "Subunit symmetry at the extracellular domain-transmembrane domain interface in acetylcholine receptor channel gating."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M110.169110"}], "href": "https://doi.org/10.1074/jbc.M110.169110"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20864527"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20864527"}]}]}]}
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| Synonyms | NOV1, C11orf40 |
| Proteins | CK040_HUMAN |
| NCBI Gene ID | 143501 |
| 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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C11ORF40 has 594 functional associations with biological entities spanning 7 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 28 datasets.
Click the + buttons to view associations for C11ORF40 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of C11ORF40 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of C11ORF40 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of C11ORF40 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of C11ORF40 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of C11ORF40 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of C11ORF40 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with C11ORF40 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| dbGAP Gene-Trait Associations | traits associated with C11ORF40 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with C11ORF40 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at C11ORF40 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 C11ORF40 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of C11ORF40 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GAD Gene-Disease Associations | diseases associated with C11ORF40 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 C11ORF40 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 C11ORF40 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of C11ORF40 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of C11ORF40 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GTEx Tissue Gene Expression Profiles | tissues with high or low expression of C11ORF40 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
| GWASdb SNP-Disease Associations | diseases associated with C11ORF40 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
| GWASdb SNP-Phenotype Associations | phenotypes associated with C11ORF40 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
| HuGE Navigator Gene-Phenotype Associations | phenotypes associated with C11ORF40 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of C11ORF40 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 C11ORF40 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 C11ORF40 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| NURSA Protein Complexes | protein complexs containing C11ORF40 protein recovered by IP-MS from the NURSA Protein Complexes dataset. | |
| Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at C11ORF40 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of C11ORF40 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with C11ORF40 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |