{ "uniprot_canonical_ac": "A1IGU5-1", "ptm_annotation": [], "sequence": { "header": "sp|A1IGU5-1|ARH37_HUMAN Isoform 1 of Rho guanine nucleotide exchange factor 37 OS=Homo sapiens OX=9606 GN=ARHGEF37 PE=2 SV=2 CANONICAL=A1IGU5-1", "length": 675, "sequence": "MAKHGADEPSSRSGSPDREGRASEDRSLLHQRLAVRELIDTEVSYLHMLQLCASDIRSRLQQLPQGDLDVLFSNIDDIIKVNSRFLHDLQETASKEEEQVQLVGNIFLEFQEELEQVYKVYCASYDQALLLVDTYRKEPELQRHIQGIVEAVVPQAGSSGLSFLLVIPLQRITRYPLLLQKILENTVPDASAYPVLQRAVSALQDVNTNINEYKMRKEVASKYTKVEQLTLRERLARINTHTLSKKTTRLSQLLKQEAGLIPRTEDKEFDDLEERFQWVSLCVTELKNNVAAYLDNLQAFLYFRPHEYNLDIPEGPAVQYCNLARDLHLEAFLKFKQRLEGLVWQPLCSLAKALLGPQNLIKKRLDKLLDFERVEEKLLEVGSVTYQEEAARHTYQALNSLLVAELPQFNQLVMQWLGQIMCTFVTLQRDLAKQVLQRAEGSMAQLPHHHVPEPAFRKLVEDALGRTSNQLRSFQETFEKVQPPPTTQPLLPGSERQVQALLSRYGPGKLYQVTSNISGTGTLDLTLPRGQIVAILQNKDTKGNSGRWLVDTGGHRGYVPAGKLQLYHVVPSAEELRRQAGLNKDPRCLTPEPSPALVPSIPTMNQVIAAYPFVARSSHEVSLQAGQPVTILEAQDKKGNPEWSLVEVNGQRGYVPSGFLARARSPVLWGWSLPS" }, "uniprot_id": "ARH37_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1IGU5", "id": "A1IGU5", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30926623", "type": [ "PubMed" ], "id": "30926623" } ], "title": "ArhGEF37 assists dynamin 2 during clathrin-mediated endocytosis.", "journal": "Journal of cell science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001669.2", "id": "NP_001001669.2", "database": "RefSeq" } ], "authors": "Viplav A, Saha T, Huertas J, Selenschik P, Ebrahimkutty MP, Grill D, Lehrich J, Hentschel A, Biasizzo M, Mengoni S, Ahrends R, Gerke V, Cojocaru V, Klingauf J, Galic M", "date": "2019" } ], "uniprot_ac": "A1IGU5", "site_annotation": [ { "end_pos": 518, "annotation": "n_glycosylation_sequon", "start_pos": 516 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1IGU5#A1IGU5-1", "isoform_ac": "A1IGU5-1", "locus": { "end_pos": 149597770, "strand": "-", "start_pos": 149632188, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000333677", "id": "ENST00000333677", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000328083", "id": "ENSP00000328083", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1IGU5-1|ARH37_HUMAN Isoform 1 of Rho guanine nucleotide exchange factor 37 OS=Homo sapiens OX=9606 GN=ARHGEF37 PE=2 SV=2 CANONICAL=A1IGU5-1", "length": 675, "sequence": "MAKHGADEPSSRSGSPDREGRASEDRSLLHQRLAVRELIDTEVSYLHMLQLCASDIRSRLQQLPQGDLDVLFSNIDDIIKVNSRFLHDLQETASKEEEQVQLVGNIFLEFQEELEQVYKVYCASYDQALLLVDTYRKEPELQRHIQGIVEAVVPQAGSSGLSFLLVIPLQRITRYPLLLQKILENTVPDASAYPVLQRAVSALQDVNTNINEYKMRKEVASKYTKVEQLTLRERLARINTHTLSKKTTRLSQLLKQEAGLIPRTEDKEFDDLEERFQWVSLCVTELKNNVAAYLDNLQAFLYFRPHEYNLDIPEGPAVQYCNLARDLHLEAFLKFKQRLEGLVWQPLCSLAKALLGPQNLIKKRLDKLLDFERVEEKLLEVGSVTYQEEAARHTYQALNSLLVAELPQFNQLVMQWLGQIMCTFVTLQRDLAKQVLQRAEGSMAQLPHHHVPEPAFRKLVEDALGRTSNQLRSFQETFEKVQPPPTTQPLLPGSERQVQALLSRYGPGKLYQVTSNISGTGTLDLTLPRGQIVAILQNKDTKGNSGRWLVDTGGHRGYVPAGKLQLYHVVPSAEELRRQAGLNKDPRCLTPEPSPALVPSIPTMNQVIAAYPFVARSSHEVSLQAGQPVTILEAQDKKGNPEWSLVEVNGQRGYVPSGFLARARSPVLWGWSLPS" } }, { "url": "https://www.uniprot.org/uniprot/A1IGU5#D6RJH4-1", "isoform_ac": "D6RJH4-1", "locus": { "end_pos": 149597770, "strand": "-", "start_pos": 149601230, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000505810", "id": "ENST00000505810", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000425621", "id": "ENSP00000425621", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D6RJH4-1|ARH37_HUMAN Computationally mapped isoform of Rho guanine nucleotide exchange factor 37 OS=Homo sapiens OX=9606 GN=ARHGEF37 PE=2 SV=1 CANONICAL=A1IGU5-1", "length": 103, "sequence": "MAKHGADEPSSRSGSPDREGRASEDRSLLHQRLAVRELIDTEVSYLHMLQLCASDIRSRLQQLPQGDLDVLFSNIDDIIKVNSRFLHDLQETASKEEEQVQLV" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:389337", "resource": "KEGG Pathway", "id": "hsa:389337", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193648", "resource": "Reactome", "id": "R-HSA-193648", "name": "NRAGE signals death through JNK" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194840", "resource": "Reactome", "id": "R-HSA-194840", "name": "Rho GTPase cycle" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416482", "resource": "Reactome", "id": "R-HSA-416482", "name": "G alpha (12/13) signalling events" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001669.2", "annotation": "ArhGEF37 was identified as a constituent of clathrin-mediated endocytosis: ArhGEF37 accumulated at dynamin 2-rich late endocytic sites. Endocytosis rates increased in the presence of ArhGEF37. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001001669.2", "id": "NP_001001669.2", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A1IGU5#function", "annotation": "May act as a guanine nucleotide exchange factor (GEF).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1IGU5#function", "id": "A1IGU5", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "A1IGU3-1", "protein_name": "Rho guanine nucleotide exchange factor 37", "sequence": { "length": 676, "sequence": "MADFETDEASSKSESPEQEGQGSEDKSLLHQRLAIRELIDTEVSYLHTLRLCTSDIRGHLQQLPPGDLDILFSNIDDIIQVSSRFLHGLQETACKEEKQAHLIGNLFLEFQEELEQVYKVYCANYDQALLLVKAYQKEPELQKEIQGIIEAAVPQAGPSGLSFLLVIPLQRITKYPLLLQKILENTPADASAHPVLQRATSALQDVNSNINEYKMRKEVALKYTKVEQLSLRERLARINTHTLSKKTTRLSQLLKQEAGLVPRTEDKEFDDLEERFQWVSLCVTELKSNVAAYMDNLEAFLCFRPHERNLDIPGGAAEQYCSLARDLQLQAFLQFKQRLTGLVWQPLCSLARALVGPQNLIKKRLDKLLDFERVEEKLLDVGSVTYEEEAARHTYQALNSLIVAELPQFNHLVMQWLGQILRTFVVLQRDLADQVLRRAESSMALLPHRHVSEPDFQKLLEDTLGQSSSQLRHFRESFEKVLPPSTSQPLLPGSEHQMQSLLTRYGPGKIYQVTSNINGTGTLDLTLPRGQIVALLQNKDTKGNNSRWLVDTGGHRGYVPAGKLQLYHPINPSEKEPRRQTGMPEDYWLPTPEPTQPSVPTVPTMSQVVAVYPFVARSTHELSLQAGQPVTILEAQDKKGNPEWSLVEANGQRGYVPSNFLARTPSPTPRGWNLPS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/28467", "id": "28467", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "gene_name": "Arhgef37", "tax_id": 10116 }, { "uniprot_canonical_ac": "A1IGU4-1", "protein_name": "Rho guanine nucleotide exchange factor 37", "sequence": { "length": 676, "sequence": "MADFGADEASSKSESPEQEDQGSEDRSLLHQRLAIRELIDTEVSYLHTLRLCASDIRSHLQQLPPGDLDILFSNIDDIIQVSSRFLRGLQETACREEEQAHLIGNLFLEFQEEFEQVYKVYCANYDQALLLVKAYQKEPELQKEIQGIIEAAMPQAGPSGLSFFLVIPLQRITKYPLLLQKILENTPADASAHPALQRATSALQDVNGNINEYKMRKEVALKYTKVEQLSLRERLARINTHTLSKKTTRLSQMLKQEAGLVSRTEDKEFDDLEERFQWVSLCVKELRNNVVDFMGNLEVFLSFRPHERSLDIPGGPAEQYCSLARDLQLHAFLQFKQRLRSLVWQPLCSLARALAGPQNLIKKRLDKLLDFDRVEEKLLDVGSVTWEEEAARHEYQALNSLLVAELPQFNQLVMQWLGQILCTFVVLQRDLADQVLRRAESTMALLPHHHVSEPDFQKLLEHTLGQSSSQLRLFQESFEKVLPPSTTQPLLPGSEHQMQALLTRYGPEKLYQVSSNINGTGTLDLTLLRGQIVALLQNKDTKGNNSRWLVDTGGHRGYVPAGKLQLYHPIIPSEKELRGQTGTHEDSWLPAPEPTQLSVPTVPTMSQVVAVYPFVARSTHELSLQAGQPVTILEAQDKKGNPEWSLVEANGQRGYVPSNFLARTPSPTPWGWNLPS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/28467", "id": "28467", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Arhgef37", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "E", "start_pos": 115, "alt_nt": "A", "chr_id": "5", "ref_nt": "G", "chr_pos": "148989143", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1IGU5", "id": "A1IGU5", "database": "BioMuta" } ], "glycoeffect": [], "frequency": "2.0", "sequence_mut": "K", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "end_pos": 115, "minor_allelic_frequency": "", "subjects_positive": "1" }, { "sequence_org": "S", "start_pos": 124, "alt_nt": "A", "chr_id": "5", "ref_nt": "C", "chr_pos": "148989172", "disease": [ { "synonyms": [ { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid neoplasm", "description": "" } ], "recommended_name": { "id": "DOID:1781", "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "name": "thyroid gland cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1IGU5", "id": "A1IGU5", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "4.0", "sequence_mut": "R", "subjects_tested": "50", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (4.0%).", "end_pos": 124, "minor_allelic_frequency": "", "subjects_positive": "2" }, { "sequence_org": "S", "start_pos": 400, "alt_nt": "T", "chr_id": "5", "ref_nt": "C", "chr_pos": "149001489", "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:9256", "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." } }, { "synonyms": [ { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of Brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "malignant tumor of adult brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary brain tumor", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "primary malignant neoplasm of brain", "description": "" }, { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "tumor of the Brain", "description": "" } ], "recommended_name": { "id": "DOID:1319", "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." } }, { "synonyms": [ { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ], "recommended_name": { "id": "DOID:4159", "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." } } ], "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1IGU5", "id": "A1IGU5", "database": "BioMuta" } ], "glycoeffect": [ "o-glyco-site-loss" ], "frequency": "0.2", "sequence_mut": "L", "subjects_tested": "456", "keywords": [ "biomuta", "somatic", "cancer", "disease" ], "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). 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