{ "uniprot_canonical_ac": "A4D1U4-1", "sequence": { "header": "sp|A4D1U4-1|DEN11_HUMAN Isoform 1 of DENN domain-containing protein 11 OS=Homo sapiens OX=9606 GN=DENND11 PE=1 SV=1 CANONICAL=A4D1U4-1", "length": 455, "sequence": "MVEQGDAAPLLRWAEGPAVSLPQAPQPQAGGWGRGGGGGARPAAEPPRRREPEEPAAPEVLLQPGRLELGDVEEDQVVAVFVVTFDPRSGNMVEWCLPQDIDLEGVEFKSMASGSHKIQSDFIYFRKGPFFGLACFANMPVESELERGARMKSVGILSPSYTLLYRYMHFLENQVRHQLEMPGHYSHLAAFYEDKKGVLHAGPGRGSSLPPVYWLPSIHRYMYPEMKITHPAGCMSQFIKFFGEQILILWKFALLRKRILIFSPPPVGVVCYRVYCCCCLANVSLPGIGGTIPESKPFFYVNVADIESLEVEVSYVACTTEKIFEEKRELYDVYVDNQNVKTHHDHLQPLLKINSADREKYRRLNEQRQMLLYSQEVEEDYNPCEEDLFVLFFLEQNNRIFQTLLEVSASQDKTLTAEHARGMGLDPQGDRSFLLDLLEAYGIDVMLVIDNPCCP" }, "uniprot_id": "DEN11_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "DENN domain-containing protein 11", "protein LCHN; predicted protein of HQ2561" ], "uniprotkb": [ "DENN domain-containing protein 11", "DENND11", "Protein LCHN" ] }, "gene": { "refseq": [ "DENND11", "KIAA1147", "LCHN", "PRO2561" ], "uniprotkb": [ "DENND11", "KIAA1147", "LCHN", "PRO2561" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1U4", "id": "A4D1U4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "DENN domain-containing protein 11; DENND11; Protein LCHN.", "short": "DENND11" }, "publication": [ { "title": "Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25489052", "journal": "Hum. Mol. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1U4/publications", "id": "A4D1U4", "database": "UniProtKB" } ], "authors": "Arnesen T., Gevaert K., Van Damme P., Abboud A., Doerfel M.J., Grauffel C., Jonckheere V., Kaasa H., Kalvik T.V., Liszczak G., Lyon G.J., Marmorstein R., Myklebust L.M., Reuter N., Stoeve S.I., Swensen J., Wu Y.", "date": "2015", "pmid": "25489052" }, { "title": "Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/24129315", "journal": "Mol. Cell. Proteomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1U4/publications", "id": "A4D1U4", "database": "UniProtKB" } ], "authors": "Beausoleil S.A., Wang Y., Zhou J., Comb M.J., Guo A., Lee K.A., Aguiar M., Bedford M.T., Gu H., Jia X., Kornhauser J., Mulhern D., Ren J., Silva J.C., Vemulapalli V., Yang V.", "date": "2014", "pmid": "24129315" } ], "glycosylation": [], "mutation": [ { "start_pos": 183, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D1U4", "id": "A4D1U4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "*", "subjects_tested": "50", "end_pos": 183, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D1U4#A4D1U4-1", "isoform_ac": "A4D1U4-1", "locus": { "end_pos": 141662659, "start_pos": 141702153, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000536163", "id": "ENST00000536163", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000445768", "id": "ENSP00000445768", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D1U4-1|DEN11_HUMAN Isoform 1 of DENN domain-containing protein 11 OS=Homo sapiens OX=9606 GN=DENND11 PE=1 SV=1 CANONICAL=A4D1U4-1", "length": 455, "sequence": "MVEQGDAAPLLRWAEGPAVSLPQAPQPQAGGWGRGGGGGARPAAEPPRRREPEEPAAPEVLLQPGRLELGDVEEDQVVAVFVVTFDPRSGNMVEWCLPQDIDLEGVEFKSMASGSHKIQSDFIYFRKGPFFGLACFANMPVESELERGARMKSVGILSPSYTLLYRYMHFLENQVRHQLEMPGHYSHLAAFYEDKKGVLHAGPGRGSSLPPVYWLPSIHRYMYPEMKITHPAGCMSQFIKFFGEQILILWKFALLRKRILIFSPPPVGVVCYRVYCCCCLANVSLPGIGGTIPESKPFFYVNVADIESLEVEVSYVACTTEKIFEEKRELYDVYVDNQNVKTHHDHLQPLLKINSADREKYRRLNEQRQMLLYSQEVEEDYNPCEEDLFVLFFLEQNNRIFQTLLEVSASQDKTLTAEHARGMGLDPQGDRSFLLDLLEAYGIDVMLVIDNPCCP" } }, { "url": "https://www.uniprot.org/uniprot/A4D1U4#C9J7X6-1", "isoform_ac": "C9J7X6-1", "locus": { "end_pos": 141662659, "start_pos": 141686653, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000482493", "id": "ENST00000482493", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000418236", "id": "ENSP00000418236", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9J7X6-1|DEN11_HUMAN Computationally mapped isoform of DENN domain-containing protein 11 OS=Homo sapiens OX=9606 GN=DENND11 PE=1 SV=1 CANONICAL=A4D1U4-1", "length": 351, "sequence": "MVEWCLPQDIDLEGVEFKSMASGSHKIQSDFIYFRKGPFFGLACFANMPVESELERGARMKSVGILSPSYTLLYRYMHFLENQVRHQLEMPGHYSHLAAFYEDKKGVLHAGPGRGSSLPPVYWLPSIHRYMYPEMKFFGEQILILWKFALLRKRILIFSPPPVGVVCYRVYCCCCLANVSLPGIGGTIPESKPFFYVNVADIESLEVEVSYVACTTEKIFEEKRELYDVYVDNQNVKTHHDHLQPLLKINSADREKYRRLNEQRQMLLYSQEVEEDYNPCEEDLFVLFFLEQNNRIFQTLLEVSASQDKTLTAEHARGMGLDPQGDRSFLLDLLEAYGIDVMLVIDNPCCP" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:57189", "resource": "KEGG Pathway", "id": "hsa:57189", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A4D1U4#function", "annotation": "Probable guanine nucleotide exchange factor (GEF). May promote the exchange of GDP to GTP, converting inactive GDP-bound small GTPases into their active GTP-bound form (Probable). May play a role in neuritogenesis, as well as in neuronal recovery and/or restructuring in the hippocampus following transient cerebral ischemia (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1U4#function", "id": "A4D1U4", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q3UHG7-1", "protein_name": "DENN domain-containing protein 11; DENND11; Protein LCHN.", "sequence": { "length": 455, "sequence": "MVEQGDAAPLLRWAEGPAVSVPQDPALQAGGWVRGGSGEGRVAAEAPRRREPDEPAPPEVLLQPGRLELGDVEEDQVVAVFVVTFDPRSGNMVEWCLPQDIDLEGVEFKSMASGSHKVQSDFIYFRKGPFFGLACFANMPVESELERGARMKSVGILSPSYTLLYRYMHFLENQVRHQLEMPGHYSHLAAFYEDKKGVLHAGPGRGGSLPPVYWLPSIHRYMYPEMKITHPAGCMSQFIKFFGEQILILWKFALLRKRILIFSPPPVGVVCYRVYCCCCLANVSLPGIGGTIPESKPFFYVNVADIESLEVEVSYVACTTEKIFEEKRELYDVYVDNQNVKTHHDHLQPLLKINSADREKYRRLNEQRQMLLYSQEVEGDYSPCEEDLFVLFFLEQNNRIFQTLLEVSASQDKTLTAEHARGMGLDPQGDRSFLMDLLEAYGIDVMLVIDNPCCP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/82355", "id": "82355", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A4D1U4/", "id": "A4D1U4", "database": "OMA" } ], "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q0PGW2-1", "protein_name": "DENN domain-containing protein 11; DENND11; Protein LCHN.", "sequence": { "length": 455, "sequence": "MVEQGDAAPLLRWAEGPAVSVPQDPALQAGGWVRGGSGGGRVAAEAPRRREPEEPAPPEVLLQPGRLELGDVEEDQVVAVFVVTFDPRSGNMVEWCLPQDIDLEGVEFKSMASGSHKVQSDFIYFRKGPFFGLACFANMPVESELERGARMKSVGILSPSYTLLYRYMHFLENQVRHQLEMPGHYSHLAAFYEDKKGVLHAGPGRGGSLPPVYWLPSIHRYMYPEMKITHPAGCMSQFIKFFGEQILILWKFALLRKRILIFSPPPVGVVCYRVYCCCCLANVSLPGIGGTIPESKPFFYVNVADIESLEVEVSYVACTTEKIFEEKRELYDVYVDNQNVKTHHDHLQPLLKLNSADREKYRRLNEQRQMLLYSQEVEGDYSPCEEDLFVLFFLEQNNRIFQTLLEVSASQDKTLTAEHARGMGLDPQGDRSFLMDLLEAYGIDVMLVIDNPCCP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/82355", "id": "82355", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A4D1U4/", "id": "A4D1U4", "database": "OMA" } ], "organism": "Rattus norvegicus", "tax_id": 10116 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073861.1", "ac": "NP_001073861.1", "name": "DENN domain-containing protein 11; protein LCHN; predicted protein of HQ2561.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D1U4", "id": "A4D1U4", "database": "UniProtKB" } ], "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085" } ], "total": 1, "name": "Molecular Function" } ] }, "site_annotation": [ { "end_pos": 284, "annotation": "n_glycosylation_sequon", "start_pos": 282 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073861.1", "id": "NP_001073861.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=29472", "id": "29472", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A4D1U4", "id": "A4D1U4", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A4D1U4", "id": "NX_A4D1U4", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=KIAA1147", "id": "KIAA1147", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:57189", "id": "hsa:57189", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/QWEEKDQ/", "id": "QWEEKDQ", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR037516", "id": "IPR037516", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018626", "id": "IPR018626", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF09804", "id": "PF09804", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A4D1U4", "id": "PR_A4D1U4", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A4D1U4*", "id": "A4D1U4", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/57189", "id": "57189", "database": "GeneID" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1U4", "id": "A4D1U4", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1U4", "id": "A4D1U4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1U4", "id": "A4D1U4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1U4", "id": "A4D1U4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1U4", "id": "A4D1U4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1U4", "id": "A4D1U4", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A4D1U4", "id": "A4D1U4", "database": "BioXpress" } ] } ], "uniprot_ac": "A4D1U4", "disease": [], "mass": { "monoisotopic_mass": 51446.0, "chemical_mass": 51446.0 }, "expression_tissue": [ { "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=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000257093", "id": "ENSG00000257093", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A4D1U4", "name": "DENND11; KIAA1147; LCHN; PRO2561.", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "0", "evidence": [] } } ] }