{"gene":"C14ORF119","run_date":"2026-06-09T22:02:45","timeline":{"discoveries":[{"year":2021,"finding":"The rs6736 polymorphism in the 3'-UTR of C14orf119 disrupts binding of miR-7-1 to the C14orf119 mRNA, as demonstrated by dual-luciferase reporter assay.","method":"Dual-luciferase reporter assay","journal":"Journal of molecular neuroscience : MN","confidence":"Low","confidence_rationale":"Tier 3 / Weak — single lab, single method (reporter assay), no functional follow-up on C14orf119 protein","pmids":["34510374"],"is_preprint":false},{"year":2025,"finding":"C14orf119 is a mitochondrial protein; the finding was established by subcellular localization characterization accompanying antibody validation using prokaryotically expressed and purified C14orf119.","method":"Protein expression, purification, and antibody-based detection of endogenous protein","journal":"Protein expression and purification","confidence":"Low","confidence_rationale":"Tier 3 / Weak — single lab, single method, localization assertion made in passing during antibody generation paper with limited mechanistic follow-up","pmids":["40992557"],"is_preprint":false}],"current_model":"C14orf119 encodes a functionally uncharacterized mitochondrial protein whose 3'-UTR contains an rs6736 polymorphism that disrupts miR-7-1 binding, but no enzymatic activity, binding partners, or defined cellular role have been experimentally established."},"narrative":{"mechanistic_narrative":"C14orf119 is a functionally uncharacterized protein localized to mitochondria, as established by antibody-based detection of the endogenous protein following prokaryotic expression and purification [PMID:40992557]. Its mRNA carries an rs6736 polymorphism in the 3'-UTR that disrupts binding of miR-7-1, identified in a dual-luciferase reporter assay [PMID:34510374]. Beyond mitochondrial localization and this single post-transcriptional regulatory observation, no enzymatic activity, binding partners, substrates, or defined cellular role have been characterized in the available corpus.","teleology":[{"year":2021,"claim":"Before this work it was unknown whether C14orf119 expression is subject to microRNA regulation; the experiment showed that a 3'-UTR polymorphism controls miR-7-1 binding, establishing a post-transcriptional regulatory input to the gene.","evidence":"Dual-luciferase reporter assay testing rs6736 variant effects on miR-7-1 binding","pmids":["34510374"],"confidence":"Low","gaps":["Single lab, single reporter-assay method with no functional follow-up on the C14orf119 protein","No demonstration that endogenous C14orf119 protein levels change with the polymorphism","Biological consequence of altered expression unknown"]},{"year":2025,"claim":"The subcellular home of C14orf119 was undefined; antibody validation work assigned it to mitochondria, providing the first localization anchor for the protein.","evidence":"Prokaryotic expression and purification of C14orf119 with antibody-based detection of endogenous protein for subcellular localization","pmids":["40992557"],"confidence":"Low","gaps":["Localization asserted in passing during an antibody-generation paper with limited mechanistic follow-up","No submitochondrial compartment, topology, or import mechanism defined","No functional role within mitochondria established"]},{"year":null,"claim":"The molecular activity, binding partners, and mitochondrial function of C14orf119 remain entirely unknown.","evidence":"No mechanistic or interaction data in the available corpus","pmids":[],"confidence":"Low","gaps":["No enzymatic or biochemical activity identified","No physical interaction partners or complex membership defined","No loss-of-function phenotype reported"]}],"mechanism_profile":{"molecular_activity":[],"localization":[{"term_id":"GO:0005739","term_label":"mitochondrion","supporting_discovery_ids":[1]}],"pathway":[],"complexes":[],"partners":[],"other_free_text":[]}},"prefetch_data":{"uniprot":{"accession":"Q9NWQ9","full_name":"Uncharacterized protein C14orf119","aliases":[],"length_aa":140,"mass_kda":16.0,"function":"","subcellular_location":"Mitochondrion","url":"https://www.uniprot.org/uniprotkb/Q9NWQ9/entry"},"depmap":{"release":"DepMap","has_data":true,"is_common_essential":false,"resolved_as":"","url":"https://depmap.org/portal/gene/C14ORF119"},"opencell":{"profiled":true,"resolved_as":"","ensg_id":"ENSG00000179933","cell_line_id":"CID000371","localizations":[{"compartment":"cytoplasmic","grade":3},{"compartment":"nucleoplasm","grade":2}],"interactors":[{"gene":"ACTN1","stoichiometry":0.2},{"gene":"JUN","stoichiometry":0.2}],"url":"https://opencell.sf.czbiohub.org/target/CID000371","total_profiled":1310},"omim":[],"hpa":{"profiled":true,"resolved_as":"","reliability":"Supported","locations":[{"location":"Mitochondria","reliability":"Supported"},{"location":"Cytosol","reliability":"Additional"}],"tissue_specificity":"Low tissue specificity","tissue_distribution":"Detected in all","driving_tissues":[],"url":"https://www.proteinatlas.org/search/C14ORF119"},"hgnc":{"alias_symbol":["FLJ20671"],"prev_symbol":[]},"alphafold":{"accession":"Q9NWQ9","domains":[{"cath_id":"-","chopping":"92-140","consensus_level":"medium","plddt":91.6363,"start":92,"end":140}],"viewer_url":"https://alphafold.ebi.ac.uk/entry/Q9NWQ9","model_url":"https://alphafold.ebi.ac.uk/files/AF-Q9NWQ9-F1-model_v6.cif","pae_url":"https://alphafold.ebi.ac.uk/files/AF-Q9NWQ9-F1-predicted_aligned_error_v6.png","plddt_mean":78.94},"mouse_models":{"mgi_url":"https://www.informatics.jax.org/marker/summary?nomen=C14ORF119","jax_strain_url":"https://www.jax.org/strain/search?query=C14ORF119"},"sequence":{"accession":"Q9NWQ9","fasta_url":"https://rest.uniprot.org/uniprotkb/Q9NWQ9.fasta","uniprot_url":"https://www.uniprot.org/uniprotkb/Q9NWQ9/entry","alphafold_viewer_url":"https://alphafold.ebi.ac.uk/entry/Q9NWQ9"}},"corpus_meta":[{"pmid":"32530565","id":"PMC_32530565","title":"A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.","date":"2020","source":"Annals of clinical and translational neurology","url":"https://pubmed.ncbi.nlm.nih.gov/32530565","citation_count":23,"is_preprint":false},{"pmid":"34510374","id":"PMC_34510374","title":"Influence of the rs6736 Polymorphism on Ischemic Stroke Susceptibility in Han Chinese Individuals via the Disruption of miR-7-1 Binding to the C14orf119 Gene.","date":"2021","source":"Journal of molecular neuroscience : MN","url":"https://pubmed.ncbi.nlm.nih.gov/34510374","citation_count":1,"is_preprint":false},{"pmid":"40992557","id":"PMC_40992557","title":"Expression and purification of C14orf119 and generation of its polyclonal antibody.","date":"2025","source":"Protein expression and purification","url":"https://pubmed.ncbi.nlm.nih.gov/40992557","citation_count":0,"is_preprint":false}],"cost":{"stage1":{"model":"claude-sonnet-4-6","input_tokens":3788,"output_tokens":448,"usd":0.009042,"stage1_stop_reason":"end_turn"},"stage2":{"model":"claude-opus-4-8","input_tokens":6704,"output_tokens":1008,"usd":0.02936,"stage2_stop_reason":"end_turn"},"total_usd":0.038402,"stage1_batch_id":"msgbatch_0179Z2pxRYBsXi2xADneafRw","stage2_batch_id":"msgbatch_01LaY9ZaVdgjWArcZo9eqQE5","note":"batch pricing = 50% of standard"},"stage1_raw":"```json\n{\n  \"discoveries\": [\n    {\n      \"year\": 2021,\n      \"finding\": \"The rs6736 polymorphism in the 3'-UTR of C14orf119 disrupts binding of miR-7-1 to the C14orf119 mRNA, as demonstrated by dual-luciferase reporter assay.\",\n      \"method\": \"Dual-luciferase reporter assay\",\n      \"journal\": \"Journal of molecular neuroscience : MN\",\n      \"confidence\": \"Low\",\n      \"confidence_rationale\": \"Tier 3 / Weak — single lab, single method (reporter assay), no functional follow-up on C14orf119 protein\",\n      \"pmids\": [\"34510374\"],\n      \"is_preprint\": false\n    },\n    {\n      \"year\": 2025,\n      \"finding\": \"C14orf119 is a mitochondrial protein; the finding was established by subcellular localization characterization accompanying antibody validation using prokaryotically expressed and purified C14orf119.\",\n      \"method\": \"Protein expression, purification, and antibody-based detection of endogenous protein\",\n      \"journal\": \"Protein expression and purification\",\n      \"confidence\": \"Low\",\n      \"confidence_rationale\": \"Tier 3 / Weak — single lab, single method, localization assertion made in passing during antibody generation paper with limited mechanistic follow-up\",\n      \"pmids\": [\"40992557\"],\n      \"is_preprint\": false\n    }\n  ],\n  \"current_model\": \"C14orf119 encodes a functionally uncharacterized mitochondrial protein whose 3'-UTR contains an rs6736 polymorphism that disrupts miR-7-1 binding, but no enzymatic activity, binding partners, or defined cellular role have been experimentally established.\"\n}\n```","stage2_raw":"{\n  \"mechanistic_narrative\": \"C14orf119 is a functionally uncharacterized protein localized to mitochondria, as established by antibody-based detection of the endogenous protein following prokaryotic expression and purification [#1]. Its mRNA carries an rs6736 polymorphism in the 3'-UTR that disrupts binding of miR-7-1, identified in a dual-luciferase reporter assay [#0]. Beyond mitochondrial localization and this single post-transcriptional regulatory observation, no enzymatic activity, binding partners, substrates, or defined cellular role have been characterized in the available corpus.\",\n  \"teleology\": [\n    {\n      \"year\": 2021,\n      \"claim\": \"Before this work it was unknown whether C14orf119 expression is subject to microRNA regulation; the experiment showed that a 3'-UTR polymorphism controls miR-7-1 binding, establishing a post-transcriptional regulatory input to the gene.\",\n      \"evidence\": \"Dual-luciferase reporter assay testing rs6736 variant effects on miR-7-1 binding\",\n      \"pmids\": [\"34510374\"],\n      \"confidence\": \"Low\",\n      \"gaps\": [\n        \"Single lab, single reporter-assay method with no functional follow-up on the C14orf119 protein\",\n        \"No demonstration that endogenous C14orf119 protein levels change with the polymorphism\",\n        \"Biological consequence of altered expression unknown\"\n      ]\n    },\n    {\n      \"year\": 2025,\n      \"claim\": \"The subcellular home of C14orf119 was undefined; antibody validation work assigned it to mitochondria, providing the first localization anchor for the protein.\",\n      \"evidence\": \"Prokaryotic expression and purification of C14orf119 with antibody-based detection of endogenous protein for subcellular localization\",\n      \"pmids\": [\"40992557\"],\n      \"confidence\": \"Low\",\n      \"gaps\": [\n        \"Localization asserted in passing during an antibody-generation paper with limited mechanistic follow-up\",\n        \"No submitochondrial compartment, topology, or import mechanism defined\",\n        \"No functional role within mitochondria established\"\n      ]\n    },\n    {\n      \"year\": null,\n      \"claim\": \"The molecular activity, binding partners, and mitochondrial function of C14orf119 remain entirely unknown.\",\n      \"evidence\": \"No mechanistic or interaction data in the available corpus\",\n      \"pmids\": [],\n      \"confidence\": \"Low\",\n      \"gaps\": [\n        \"No enzymatic or biochemical activity identified\",\n        \"No physical interaction partners or complex membership defined\",\n        \"No loss-of-function phenotype reported\"\n      ]\n    }\n  ],\n  \"mechanism_profile\": {\n    \"molecular_activity\": [],\n    \"localization\": [\n      {\"term_id\": \"GO:0005739\", \"supporting_discovery_ids\": [1]}\n    ],\n    \"pathway\": [],\n    \"complexes\": [],\n    \"partners\": [],\n    \"other_free_text\": []\n  }\n}","audit_flag":null,"evaluation":{"faith_supported":2,"faith_total":2,"faith_pct":100.0}}