{ "uniprot_canonical_ac": "A2RUS2-1", "synonyms_protein_refseq": [ "DENN domain-containing protein 3 isoform 2", "DENN domain-containing protein 3; DENN/MADD domain containing 3" ], "sequence": { "header": "sp|A2RUS2-1|DEND3_HUMAN Isoform 1 of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=2 CANONICAL=A2RUS2-1", "length": 1198, "sequence": "MRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRVQSLQLHHELHAAHLLSSTDLKEGRAHRRSWQQKLNCQIQQTTLQLLVSIFRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE" }, "uniprot_id": "DEND3_HUMAN", "synonyms_gene_uniprotkb": [ "DENND3", "KIAA0870" ], "enzyme_annotation": [], "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "DENN domain-containing protein 3", "short": "" }, "publication": [ { "title": "Rab proteins and the compartmentalization of the endosomal system.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25341920", "journal": "Cold Spring Harbor perspectives in biology", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "id": "R-HSA-8876198", "database": "Reactome" } ], "authors": "Wandinger-Ness A, Zerial M", "date": "2014", "pmid": "25341920" }, { "title": "Molecular cloning and characterization of prokineticin receptors.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/12427552", "journal": "Biochimica et biophysica acta", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "id": "R-HSA-8876198", "database": "Reactome" } ], "authors": "Soga T, Matsumoto Si, Oda T, Saito T, Hiyama H, Takasaki J, Kamohara M, Ohishi T, Matsushime H, Furuichi K", "date": "2002", "pmid": "12427552" }, { "title": "Role of the small GTPase Rab7 in the late endocytic pathway.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/9020161", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "id": "R-HSA-8876198", "database": "Reactome" } ], "authors": "Vitelli R, Santillo M, Lattero D, Chiariello M, Bifulco M, Bruni CB, Bucci C", "date": "1997", "pmid": "9020161" }, { "title": "A molecular network for the transport of the TI-VAMP/VAMP7 vesicles from cell center to periphery.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/22705394", "journal": "Developmental cell", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "id": "R-HSA-8876198", "database": "Reactome" } ], "authors": "Burgo A, Proux-Gillardeaux V, Sotirakis E, Bun P, Casano A, Verraes A, Liem RK, Formstecher E, Coppey-Moisan M, Galli T", "date": "2012", "pmid": "22705394" }, { "title": "The interaction of JRAB/MICAL-L2 with Rab8 and Rab13 coordinates the assembly of tight junctions and adherens junctions.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/18094055", "journal": "Molecular biology of the cell", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "id": "R-HSA-8876198", "database": "Reactome" } ], "authors": "Yamamura R, Nishimura N, Nakatsuji H, Arase S, Sasaki T", "date": "2008", "pmid": "18094055" }, { "title": "A complex of Rab13 with MICAL-L2 and alpha-actinin-4 is essential for insulin-dependent GLUT4 exocytosis.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26538022", "journal": "Molecular biology of the cell", "evidence": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "id": 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"url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "M", "start_pos": 211, "end_pos": 211, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "A", "subjects_tested": "254", "subjects_positive": "1", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "0.4", "sequence_mut": "V", "start_pos": 830, "end_pos": 830, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "V", "subjects_tested": "558", "subjects_positive": "1", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "0.2", "sequence_mut": "I", "start_pos": 217, "end_pos": 217, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "V", "subjects_tested": "160", "subjects_positive": "1", "disease": { "doid": "2174", "url": "http://disease-ontology.org/term/DOID:2174", "icd10": "", "name": "Ocular cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "0.6", "sequence_mut": "I", "start_pos": 217, "end_pos": 217, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "A", "subjects_tested": "980", "subjects_positive": "1", "disease": { "doid": "11934", "url": "http://disease-ontology.org/term/DOID:11934", "icd10": "", "name": "Head and neck cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "V", "start_pos": 830, "end_pos": 830, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "N", "subjects_tested": "66", "subjects_positive": "1", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "K", "start_pos": 719, "end_pos": 719, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." }, { "sequence_org": "D", "subjects_tested": "66", "subjects_positive": "1", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "A", "start_pos": 38, "end_pos": 38, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." }, { "sequence_org": "H", "subjects_tested": "66", "subjects_positive": "1", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "1.5", "sequence_mut": "L", "start_pos": 670, "end_pos": 670, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.5%)." }, { "sequence_org": "A", "subjects_tested": "1044", "subjects_positive": "1", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "icd10": "", "name": "Stomach cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "V", "start_pos": 830, "end_pos": 830, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "D", "subjects_tested": "50", "subjects_positive": "1", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "N", "start_pos": 551, "end_pos": 551, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "Q", "subjects_tested": "50", "subjects_positive": "1", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid gland cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "2.0", "sequence_mut": "R", "start_pos": 1022, "end_pos": 1022, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (2.0%)." }, { "sequence_org": "V", "subjects_tested": "1044", "subjects_positive": "1", "disease": { "doid": "10534", "url": "http://disease-ontology.org/term/DOID:10534", "icd10": "", "name": "Stomach cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "0.1", "sequence_mut": "I", "start_pos": 217, "end_pos": 217, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3)." }, { "sequence_org": "R", "subjects_tested": "78", "subjects_positive": "1", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" } ], "frequency": "1.3", "sequence_mut": "H", "start_pos": 2, "end_pos": 2, "type": "Point mutation", "annotation": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.3%)." } ], "synonyms_protein_uniprotkb": [ "DENN domain-containing protein 3" ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2#H0YAY3-1", "isoform_ac": "H0YAY3-1", "locus": { "end_pos": 141128779, "start_pos": 141194232, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000518668", "id": "ENST00000518668", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428276", "id": "ENSP00000428276", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YAY3-1|DEND3_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1", "length": 1203, "sequence": "XPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RH95-1", "isoform_ac": "E5RH95-1", "locus": { "end_pos": 141128708, "start_pos": 141136656, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000518198", "id": "ENST00000518198", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428641", "id": "ENSP00000428641", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E5RH95-1|DEND3_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1", "length": 67, "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQRSCPFSCLLLSVKRTVKWPVPTAALSVKPGCAP" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RJ42-1", "isoform_ac": "E5RJ42-1", "locus": { "end_pos": 141136608, "start_pos": 141141274, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000519291", "id": "ENST00000519291", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000430625", "id": "ENSP00000430625", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E5RJ42-1|DEND3_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=8 CANONICAL=A2RUS2-1", "length": 124, "sequence": "MAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVC" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#H0YBK9-1", "isoform_ac": "H0YBK9-1", "locus": { "end_pos": 141192331, "start_pos": 141192916, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000520725", "id": "ENST00000520725", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000429725", "id": "ENSP00000429725", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YBK9-1|DEND3_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1", "length": 170, "sequence": "XTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVGWRARHPQHPRQVSLALAASPCSREPAARPRALLPSPLRVPLLTGTCRVGANGPTGHHVLVSWCGPSTPQRIPPNWMASNDRT" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RIR7-1", "isoform_ac": "E5RIR7-1", "locus": { "end_pos": 141128708, "start_pos": 141141325, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000518347", "id": "ENST00000518347", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000430695", "id": "ENSP00000430695", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E5RIR7-1|DEND3_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1", "length": 208, "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSW" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E9PF32-1", "isoform_ac": "E9PF32-1", "locus": { "end_pos": 141128708, "start_pos": 141194230, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000519811", "id": "ENST00000519811", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428714", "id": "ENSP00000428714", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E9PF32-1|DEND3_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1", "length": 1278, "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRVQSLQLHHELHAAHLLSSTDLKEGRAHRRSWQQKLNCQIQQTTLQLLVSIFRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#H0YBH5-1", "isoform_ac": "H0YBH5-1", "locus": { "end_pos": 141178121, "start_pos": 141185320, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000517985", "id": "ENST00000517985", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000429533", "id": "ENSP00000429533", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YBH5-1|DEND3_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1", "length": 122, "sequence": "VGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVVSTRSVRKEASEFT" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RHH2-1", "isoform_ac": "E5RHH2-1", "locus": { "end_pos": 141128708, "start_pos": 141151837, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000520986", "id": "ENST00000520986", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000429780", "id": "ENSP00000429780", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E5RHH2-1|DEND3_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1", "length": 280, "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSK" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#B3KRG7-1", "isoform_ac": "B3KRG7-1", "locus": { "end_pos": 141188992, "start_pos": 141194230, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000523308", "id": "ENST00000523308", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000430912", "id": "ENSP00000430912", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|B3KRG7-1|DEND3_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1", "length": 248, "sequence": "MVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#E5RI43-1", "isoform_ac": "E5RI43-1", "locus": { "end_pos": 141128708, "start_pos": 141150908, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000523058", "id": "ENST00000523058", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000430786", "id": "ENSP00000430786", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|E5RI43-1|DEND3_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1", "length": 291, "sequence": "MAEAASPHLSLPSGLLELCALLGAPRDSLRSLEQVAYKKGVKHLSALLDPEVLSIFVPPFISKEDSQMAGANCGTLGKTRMRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVQPCLSSHSVNTEFELKCDFKVFNMKSLQIVLPARADPESPILDLD" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#A2RUS2-2", "isoform_ac": "A2RUS2-2", "locus": { "end_pos": 141136647, "start_pos": 141194230, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000424248", "id": "ENST00000424248", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000410594", "id": "ENSP00000410594", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RUS2-2|DEND3_HUMAN Isoform 2 of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=2 CANONICAL=A2RUS2-1", "length": 1146, "sequence": "MRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#A2RUS2-3", "isoform_ac": "A2RUS2-3", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A2RUS2-3|DEND3_HUMAN Isoform 3 of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=2 CANONICAL=A2RUS2-1", "length": 266, "sequence": "MVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVGWRARHPQHPRQVSLALAASPCSREPAARPRALLPSPLRVPLLTGTCRVGANGPTGHHVLVSWCGPSTPQRIPPNWMASNDRT" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#A2RUS2-1", "isoform_ac": "A2RUS2-1", "locus": { "end_pos": 141136647, "start_pos": 141194230, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000262585", "id": "ENST00000262585", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000262585", "id": "ENSP00000262585", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A2RUS2-1|DEND3_HUMAN Isoform 1 of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=2 CANONICAL=A2RUS2-1", "length": 1198, "sequence": "MRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSCLLALLKPCKDFEVDSHIKDFAAKLSLIPSPPPGPLHLVFNMKSLQIVLPARADPESPILDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLVTECFMAYLYPLQWQHPFVPILSDQMLDFVMAPTSFLMGCHLDHFEEVSKEADGLVLINIDHGSITYSKSTDDNVDIPDVPLLAAQTFIQRVQSLQLHHELHAAHLLSSTDLKEGRAHRRSWQQKLNCQIQQTTLQLLVSIFRDVKNHLNYEHRVFNSEEFLKTRAPGDHQFYKQVLDTYMFHSFLKARLNRRMDAFAQMDLDTQSEEDRINGMLLSPRRPTVEKRASRKSSHLHVTHRRMVVSMPNLQDIAMPELAPRNSSLRLTDTAGCRGSSAVLNVTPKSPYTFKIPEIHFPLESKCVQAYHAHFVSMLSEAMCFLAPDNSLLLARYLYLRGLVYLMQGQLLNALLDFQNLYKTDIRIFPTDLVKRTVESMSAPEWEGAEQAPELMRLISEILDKPHEASKLDDHVKKFKLPKKHMQLGDFMKRVQESGIVKDASIIHRLFEALTVGQEKQIDPETFKDFYNCWKETEAEAQEVSLPWLVMEHLDKNECVCKLSSSVKTNLGVGKIAMTQKRLFLLTEGRPGYLEISTFRNIEEVRRTTTTFLLRRIPTLKIRVASKKEVFEANLKTECDLWHLMVKEMWAGKKLADDHKDPHYVQQALTNVLLMDAVVGTLQSPGAIYAASKLSYFDKMSNEMPMTLPETTLETLKHKINPSAGEAFPQAVDVLLYTPGHLDPAEKVEDAHPKLWCALSEGKVTVFNASSWTIHQHSFKVGTAKVNCMVMADQNQVWVGSEDSVIYIINVHSMSCNKQLTAHCSSVTDLIVQDGQEAPSNVYSCSMDGMVLVWNVSTLQVTSRFQLPRGGLTSIRLHGGRLWCCTGNSIMVMKMNGSLHQELKIEENFKDTSTSFLAFQLLPEEEQLWAACAGRSEVYIWSLKDLAQPPQRVPLEDCSEINCMIRVKKQVWVGSRGLGQGTPKGKIYVIDAERKTVEKELVAHMDTVRTLCSAEDRYVLSGSGREEGKVAIWKGE" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#A2RUS2-4", "isoform_ac": "A2RUS2-4", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "N/A", "evidence": [] }, "sequence": { "header": "sp|A2RUS2-4|DEND3_HUMAN Isoform 4 of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=2 CANONICAL=A2RUS2-1", "length": 128, "sequence": "MRSLRKKREKPRPEQWKGLPGPPRAPEPEDVAVPGGVDLLTLPQLCFPGGVCVATEPKEDCVHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSW" } }, { "url": "https://www.uniprot.org/uniprot/A2RUS2#H0YAW2-1", "isoform_ac": "H0YAW2-1", "locus": { "end_pos": 141141203, "start_pos": 141142483, "chromosome": "8", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000518249", "id": "ENST00000518249", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000428155", "id": "ENSP00000428155", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|H0YAW2-1|DEND3_HUMAN Computationally mapped isoform of DENN domain-containing protein 3 OS=Homo sapiens OX=9606 GN=DENND3 PE=1 SV=1 CANONICAL=A2RUS2-1", "length": 102, "sequence": "DEYCFYNGKTHRECPGCFVPFAVCVVSRFPYYNSLKDCLSWPRRKQLTTVPFCVIMLENEPRQIAELVLFLLLAKHSHLRPSALTRGTSPMESEQEPYCSNQ" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "resource": "Reactome", "id": "R-HSA-8876198", "name": "RAB GEFs exchange GTP for GDP on RABs" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22898", "resource": "KEGG Pathway", "id": "hsa:22898", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2#function", "annotation": "Guanine nucleotide exchange factor (GEF) activating RAB12. Promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB12 into its active GTP-bound form (PubMed:20937701). Regulates autophagy in response to starvation through RAB12 activation. Starvation leads to ULK1/2-dependent phosphorylation of Ser-472 and Ser-490, which in turn allows recruitment of 14-3-3 adapter proteins and leads to up-regulation of GEF activity towards RAB12 (By similarity). Also plays a role in protein transport from recycling endosomes to lysosomes, regulating, for instance, the degradation of the transferrin receptor and of the amino acid transporter PAT4 (PubMed:20937701). Starvation also induces phosphorylation at Tyr-858, which leads to up-regulated GEF activity and initiates autophagy (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2#function", "id": "A2RUS2", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "D4A2H4-1", "protein_name": "DENN domain-containing 3", "sequence": { "length": 1278, "sequence": "MAEPSARHLSLPSGLLELCALLGASQDSLRGLEQIAQKRGVNGASSLVPEVLSVFVPPFTTKEDGQVVGASCTLSKGRRRSFRKKREKPRMESWKSHPGDSKGPDSEDVTIPGGVDLLALPQLCFPGGVCVASEPKEDYIHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKSHWEPSMSSARRFVPFAVCVVSRFPYYNSLKDCLSCLLTHLKLCKDFEVDNHIKDFAARLSLIPSPPPGPLHLIFNMKPLQVVFPSRADPESPIIDLDLHLPLLCFRPEKVLQILTCILTEQRMVFFSSDWALLTLMAECFVAYVHPLQWQHTFVPILSGQMLDFVMAPTSFLMGCHLDHFEEVRKEADGLVLIDIDLGSVTCSKSSDEDVDIPDVPLLLAQAFIQRVQSLQLHPDLHLAHLSASTDLNEGRARRRAWQQALNCKIQHITLQLLVGIFREVKNHLNYEHRVFNSEEFLKTRAAGDQQFYKQVLDTYMFHSFLKARLNGRMDAFARMDLDTQSEEDRIDRMLISPRRPTVEKMASRKASPLNIAHRRMVVSMPNLQDISLPELPPRNSSLRIMDTSSCKSSSPVLKVTPKSTYTFKIPEIHFPLVSQCVQAYFTDLVTLLSKAMALLGPGDSLLLARYFYLRGLIHLMQGQLLNALLDFQSLYKTDIRIFPADLVKGMVDSMSASERAQAERTPELRRLITEVFDKQGEAPKVDDAVKNFELPKKHMQLNDFVKRVQESGIVKDTTIIHRLFDALTVGHEKQIDPETFRDFYTCWKETEAEAQEVSLPALLVDHLDRNECVYKLSSSVKTNRGVGKIAMTQKRLFLLPEGRPSYVEIATFRNIEEVKSTTVAFLLLKIPTLKIKTVAKKEVFEANLKSECDLWHLMVKEMWAGKKLADDHKDPQYVQQALTNVLLMDAVVGTLQSSGAIYAASKLAYFDKMKNELPMAVPKTTSETLKHKINPSAGETAPQAIEVLLYTPGRLDPAEKVEDAHPKLWCALNEGKVVVFDASSWTIHQHCFKVGSSKVNCMVMAEHSQVWVGSEDSVIYIINVHSMSCNKQLTDHRSAVTGLAVPSGKKPSAVYSCSLDGTVLAWNVSTLRVISRFQLQHGDLMSISLHNDRVFCCTARSILVVTLQGFVRQELRIQPSEEPSASFLAIQLLPEEQQLWVACTGVSELYIWSLKDLGQPPQKTHLQDCTEVTCMIRVKRQIWVGGRGLSQGKTRGKIYVMDVEKVTLEKELVAHSDTVRTLCSAEDRYVLSGAGGEEGKIAIWKVE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/28254", "id": "28254", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "A2RT67-1", "protein_name": "DENN domain-containing protein 3", "sequence": { "length": 1274, "sequence": "MAEPAARHLSLPSGLLELCALLGASQDSLRGLEQIAQKRGVKSASSLVPEVLSVFVPPFTTKEDGQVPGASCALGKGRRRSFRKKREKPRMEPWKSHPGDSKGPDSEDVTIPGGVDLLALPQLCFPGCVCVASEPKEDYIHFLVLTDVCGNRTYGVVAQYYRPLHDEYCFYNGKSHWEPSVISARCFVPFAVCVVSRFPYYNSLKDCLSCLLTHLKLCKDFEVDNHIKDFAARLSLIPSPPPGPLHLIFNMKPLQVVFPSRADPESPIVDLDLHLPLLCFRPEKVLQILTCILTEQRIVFFSSDWALLTLMAECFVAYLHPLQWQHTFVPILSGQMLDFVMAPTSFLMGCHLDHFEEVRKEADGLVLIDIDHGSVTCSKSSDDNIDIPDVPLLLAQTFIQRVQSLQLHPDLHLAHLSASTDLNEGRARRRAWQQTLNCKIQHITLQLLVGIFREVKNHLNYEHRVFNSEEFLKTRAAGDQQFYKQVLDTYMFHSFLKARLNGRMDAFARMDLDTQSEEDRIDRMLISPRRPTVEKMASRKASPLHITHRRMVVSMPNLQDISLPELPPRNSSLRIMDTSNCRSSSPVLKVTPKSTYMFKIPDIHFPLESQCVQAYYTDFVTLLSKAMALLGPGDSLLLARYFYLRGLLHLMQGQLLSALLDFQNLYKTDIGIFPADLVKRTVESMSASERAQAERTPELRRLITEVFDKHGEAPKADDAVKNFELPKKHMQLNDFVKRVQESGIVKDAVIIHRLFDALTFGHEKQIDPETFRDFYTCWKETEAEAQEVSLPALLMEHLDKNECVYKLSSSVKTNRGVGKIAMTQKRLFLLTEGRPGYVEIATFRNIEEVKNSTVAFLLLRIPTLKIKTVAKKEVFEANLKSECDLWHLMVKEMWAGKQLADDHKDPQYVQQALTNVLLMDAVVGTLQSPSAIHAASKLAYFDNMKKKSPMAVPKTTSETLKHKINPSAGETAPQAIEVLLYTPGRLDPAEKVEDAHPKLWCALNEGKVVVFDASSWTVHQHCFKVGSSKVNCMVMAEHNQVWVGSEDSVIYIINVHSMSCNKQLTDHRSPVTGLAVHNGKKPSEIYSCSLDGTVIAWNVSTLRVISRFQLSYGDLLSISLHNDRIWCCTVHKILVVTPQGFVRQELKHPKDASFLAFQLLPEEQQLWAASTGVSELYMWSLKDLDQPPQKTYLQDCSEVTCMIRVKRQIWVGGRGLSQGKTRGKIYVMDVEKVTVEKELVAHLDTVRTLCSAEDRYVLSGAGQEEGKIAIWKVE" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/28254", "id": "28254", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "synthesized_glycans": [], "refseq": {}, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017112", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "Rab guanyl-nucleotide exchange factor activity", "id": "GO:0017112" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008333", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "endosome to lysosome transport", "id": "GO:0008333" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044257", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A2RUS2", "id": "A2RUS2", "database": "UniProtKB" } ], "name": "cellular protein catabolic process", "id": "GO:0044257" } ], "total": 2, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 932, "annotation": "n_glycosylation_sequon", "start_pos": 930 }, { "end_pos": 1060, "annotation": "n_glycosylation_sequon", "start_pos": 1058 }, { "end_pos": 1019, "annotation": "n_glycosylation_sequon", "start_pos": 1017 }, { "end_pos": 509, "annotation": "n_glycosylation_sequon", "start_pos": 507 }, { "end_pos": 490, "annotation": "n_glycosylation_sequon", "start_pos": 488 }, { "end_pos": 75, "annotation": "n_glycosylation_sequon", "start_pos": 73 } ], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000105339", "id": "ENSG00000105339", "database": "Bgee" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR015943", "id": "IPR015943", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001680", "id": "IPR001680", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR005112", "id": "IPR005112", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001194", "id": "IPR001194", "database": "InterPro" }, { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A2RUS2", "id": "A2RUS2", "database": "BioMuta" }, { "url": "https://www.nextprot.org/entry/NX_A2RUS2", "id": "NX_A2RUS2", "database": "neXtProt" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/22898", "id": "22898", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036322", "id": "IPR036322", "database": "InterPro" }, { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:22898", "id": "hsa:22898", "database": "KEGG Pathway" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR037516", "id": "IPR037516", "database": "InterPro" }, { "url": "https://pharos.nih.gov/targets/A2RUS2", "id": "A2RUS2", "database": "PHAROS" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A2RUS2", "id": "PR_A2RUS2", "database": "PRO" }, { "url": "http://www.omim.org/entry/617503", "id": "617503", "database": "MIM" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A2RUS2*", "id": "A2RUS2", "database": "IntAct" }, { "url": "http://pfam.xfam.org/family/PF02141", "id": "PF02141", "database": "Pfam" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055772.2", "id": "NP_055772.2", "database": "RefSeq" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR017986", "id": "IPR017986", "database": "InterPro" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29134", "id": "29134", "database": "HGNC" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR019775", "id": "IPR019775", "database": "InterPro" }, { "url": "http://www.orthodb.org/?query=521943at2759", "id": "521943at2759", "database": "OrthoDB" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=DENND3", "id": "DENND3", "database": "GeneCards" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8876198", "id": "R-HSA-8876198", "database": "Reactome" } ], "expression_disease": [ { "name": "Urinary bladder cancer [DO disease name]", "trend": "Down", "icd10": "C67", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A2RUS2", "id": "A2RUS2", "database": "BioXpress" } ], "url": "http://disease-ontology.org/term/DOID:11054", "significant": "Yes" }, { "name": "Lung adenocarcinoma [DO disease name]", "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "Lung adenocarcinoma" }, "evidence": [ { "url": 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