{ "uniprot_canonical_ac": "P0C7U0-1", "uniprot_ac": "P0C7U0", "uniprot_id": "ELFN1_HUMAN", "mass": { "chemical_mass": 90477.0, "monoisotopic_mass": 90477.0 }, "refseq": { "ac": "NP_001122108", "name": "protein ELFN1 precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122108" }, "gene_names": [ { "name": "ELFN1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C7U0", "id": "P0C7U0" }, { "name": "ELFN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122108", "id": "NP_001122108" }, { "name": "PPP1R28", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122108", "id": "NP_001122108" }, { "name": "PPP1R28", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0C7U0", "id": "P0C7U0" } ], "protein_names": [ { "name": "Protein ELFN1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0C7U0" }, { "name": "Extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0C7U0" }, { "name": "Protein phosphatase 1 regulatory subunit 28", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P0C7U0" }, { "name": "extracellular leucine-rich repeat and fibronectin type III containing 1; extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1; protein phosphatase 1 regulatory subunit 28; protein ELFN1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122108", "id": "NP_001122108" }, { "name": "protein ELFN1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122108", "id": "NP_001122108" } ], "function": [ { "annotation": "Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity.", "evidence": [ { "database": "RefSeq", "id": "NP_001122108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122108" }, { "database": "PubMed", "id": "34509675", "url": "https://glygen.org/publication/PubMed/34509675" } ] }, { "annotation": "Damaging missense mutations of ELFN1, that are clustered in the carboxy-terminal region required for mGluR7 recruitment, are found in patients with epilepsy and attention deficit hyperactivity disorder. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001122108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122108" }, { "database": "PubMed", "id": "25047565", "url": "https://glygen.org/publication/PubMed/25047565" } ] }, { "annotation": "Postsynaptic protein that regulates circuit dynamics in the central nervous system by modulating the temporal dynamics of interneuron recruitment. Specifically present in excitatory synapses onto oriens-lacunosum molecular (OLM) interneurons and acts as a regulator of presynaptic release probability to direct the formation of highly facilitating pyramidal-OLM synapses (By similarity). Inhibits phosphatase activity of protein phosphatase 1 (PP1) complexes.", "evidence": [ { "database": "UniProtKB", "id": "P0C7U0", "url": "https://www.uniprot.org/uniprot/P0C7U0#function" }, { "database": "PubMed", "id": "19389623", "url": "https://glygen.org/publication/PubMed/19389623" } ] }, { "annotation": "The binding specificity of ELFN1 and found it to be recruited selectively to all group III mGluRs (mGluR4, mGluR6, mGluR7, and mGluR8), but not other mGluR species.", "evidence": [ { "database": "RefSeq", "id": "NP_001122108", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001122108" }, { "database": "PubMed", "id": "29686062", "url": "https://glygen.org/publication/PubMed/29686062" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1583408533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1583408533" }, { "id": "rs1583408533", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1583408533" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 122, "end_pos": 122, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->SLT).", "chr_id": "7", "chr_pos": "1744961", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N122", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1448420227", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1448420227" }, { "id": "rs1448420227", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1448420227" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 124, "end_pos": 124, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLT->NLM).", "chr_id": "7", "chr_pos": "1744967", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T124", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P0C7U0", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P0C7U0" }, { "id": "rs1045243521", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1045243521" }, { "id": "rs1045243521", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1045243521" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 162, "end_pos": 162, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "D", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "7", "chr_pos": "1745080", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "D162", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. 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somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"database": "BioXpress", "id": "P0C7U0", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7U0" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7U0" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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