{ "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": "", "glycation": [], "keywords": [], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1IGU5", "id": "A1IGU5", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "reaction_enzymes": [], "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", "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A1IGU5", "type": "synonym", "resource": "RefSeq", "name": "ARHGEF37" }, { "url": "https://www.uniprot.org/uniprot/A1IGU5", "type": "recommended", "resource": "UniProtKB", "name": "ARHGEF37" } ], "reactions": [], "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|D6RJH4_HUMAN Computationally mapped isoform of Rho guanine nucleotide exchange factor 37 OS=Homo sapiens OX=9606 GN=ARHGEF37 PE=1 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", "description": "NRAGE signals death through JNK", "resource": "Reactome", "id": "R-HSA-193648", "name": "NRAGE signals death through JNK" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194840", "description": "Rho GTPase cycle", "resource": "Reactome", "id": "R-HSA-194840", "name": "Rho GTPase cycle" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416482", "description": "G alpha (12/13) signalling events", "resource": "Reactome", "id": "R-HSA-416482", "name": "G alpha (12/13) signalling events" } ], "reaction_participants": [], "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": [ { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%).", "sequence_org": "E", "start_pos": 115, "alt_nt": "A", "chr_id": "5", "subjects_positive": "1", "chr_pos": "148989143", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "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" ], "end_pos": 115, "minor_allelic_frequency": "", "ref_nt": "G" }, { "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (4.0%).", "sequence_org": "S", "start_pos": 124, "alt_nt": "A", "chr_id": "5", "subjects_positive": "2", "chr_pos": "148989172", "disease": [ { "disease_id": "DOID:1781", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "malignant tumour of thyroid gland", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "Thyroid gland neoplasm", "id": "DOID:1781" }, { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "", "name": "thyroid neoplasm", "id": "DOID:1781" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1781", "resource": "Disease Ontology", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage.", "name": "thyroid gland cancer", "id": "DOID:1781" } } ], "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" ], "end_pos": 124, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). In dbSNP: rs781049357.", "sequence_org": "S", "start_pos": 400, "alt_nt": "T", "chr_id": "5", "subjects_positive": "1", "chr_pos": "149001489", "disease": [ { "disease_id": "DOID:9256", "synonyms": [ { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "Familial colon cancer is a cluster of colon cancer within a family. Most cases ofcolon cancer occur sporadically in people with little to no family history of the condition. Approximately 3-5% of colon cancer is considered 'hereditary' and is thought to be caused by an inherited predisposition tocolon cancer that is passed down through a family in an autosomal dominant or autosomal recessive manner. In some of these families, the underlying genetic cause is not known; however, many of these cases are caused by changes ( mutations ) in the APC , MYH , MLH1 , MSH2 , MSH6 , PMS2 , EPCAM , PTEN , STK11 , SMAD4 , BMPR1A , NTHL1 , POLE , and POLD1 genes (which are associated with hereditary cancer syndromes). An additional 10-30% of people diagnosed with colon cancer have a significant family history of the condition but have no identifiable mutation in a gene known to cause a hereditary predisposition to colon cancer. These clusters of colon cancer are likely due to a combination of gene(s) and other shared factors such as environment and lifestyle. High-risk cancer screening and other preventative measures such as prophylactic surgeries are typically recommended in people who have an increased risk for colon cancer based on their personal and/or family histories.", "name": "familial colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "hereditary colorectal cancer", "id": "MONDO:0023113" }, { "url": "https://monarchinitiative.org/disease/MONDO:0023113", "resource": "MONDO", "description": "", "name": "colorectal cancer, familial", "id": "MONDO:0023113" }, { "url": "https://www.omim.org/entry/114500", "resource": "MIM", "description": "Colorectal cancer", "name": "Colorectal cancer", "id": "MIM:114500" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:9256", "resource": "Disease Ontology", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum.", "name": "colorectal cancer", "id": "DOID:9256" } }, { "disease_id": "DOID:1319", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult malignant brain neoplasm", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary malignant neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "adult brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant primary brain tumor", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "BT - Brain tumour", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "neoplasm of brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "brain neoplasm, adult", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "tumor of the Brain", "id": "DOID:1319" }, { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "", "name": "malignant tumor of adult brain", "id": "DOID:1319" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:1319", "resource": "Disease Ontology", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain.", "name": "brain cancer", "id": "DOID:1319" } }, { "disease_id": "DOID:4159", "synonyms": [ { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "CA - skin cancer", "id": "DOID:4159" }, { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "malignant neoplasm of skin", "id": "DOID:4159" }, { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "", "name": "melanoma and Non-melanoma skin cancer", "id": "DOID:4159" } ], "recommended_name": { "url": "http://disease-ontology.org/term/DOID:4159", "resource": "Disease Ontology", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells.", "name": "skin cancer", "id": "DOID:4159" } } ], "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" ], "end_pos": 400, "minor_allelic_frequency": "", "ref_nt": "C" }, { "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3). 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}, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183111", "id": "ENSG00000183111", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000183111", "id": "ENSG00000183111", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A1IGU5", "name": "ARHGEF37", "locus": { "end_pos": 149634968, "strand": "+", "start_pos": 149551947, "chromosome": "5", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000183111", "id": "ENSG00000183111", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A1IGU5", "type": "synonym", "resource": "RefSeq", "name": "Rho guanine nucleotide exchange factor (GEF) 37" }, { "url": "https://www.uniprot.org/uniprot/A1IGU5#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Rho guanine nucleotide exchange factor 37" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A1IGU5", "type": "synonym", "resource": "RefSeq", "name": "rho guanine nucleotide exchange factor 37" } ] }