{ "uniprot_canonical_ac": "A0A0G2K2U9-1", "uniprot_ac": "A0A0G2K2U9", "uniprot_id": "A0A0G2K2U9_RAT", "mass": { "chemical_mass": 80447.0, "monoisotopic_mass": 80447.0 }, "refseq": { "ac": "XP_008769765", "name": "FYVE, RhoGEF and PH domain-containing protein 3 isoform X1", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_008769765" }, "gene_names": [ { "name": "Fgd3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A0G2K2U9", "id": "A0A0G2K2U9" }, { "name": "Fgd3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_008769765", "id": "XP_008769765" } ], "protein_names": [ { "name": "FYVE, RhoGEF and PH domain containing 3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K2U9/entry#names_and_taxonomy", "id": "A0A0G2K2U9" }, { "name": "FYVE, RhoGEF and PH domain-containing protein 3 isoform X1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_008769765", "id": "XP_008769765" } ], "function": [], "disease": [ { "disease_id": "DOID:0110192", "recommended_name": { "id": "DOID:0110192", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110192", "name": "Charcot-Marie-Tooth disease type 4H", "description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4)." }, "synonyms": [ { "id": "DOID:0110192", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110192", "name": "autosomal recessive Charcot-Marie-Tooth disease type 4H", "description": "" }, { "id": "DOID:0110192", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110192", "name": "CMT4H", "description": "" }, { "id": "DOID:0110192", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110192", "name": "Charcot-Marie-Tooth neuropathy type 4H", "description": "" }, { "id": "DOID:0110192", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110192", "name": "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H", "description": "" }, { "id": "MONDO:0012250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012250", "name": "Charcot-Marie-Tooth disease type 4H", "description": "Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy" }, { "id": "MONDO:0012250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012250", "name": "CMT4H", "description": "" }, { "id": "MONDO:0012250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012250", "name": "Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4", "description": "" }, { "id": "MONDO:0012250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012250", "name": "Charcot-Marie-Tooth disease type 4H", "description": "" }, { "id": "MONDO:0012250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012250", "name": "Charcot-Marie-Tooth neuropathy type 4H", "description": "" }, { "id": "MONDO:0012250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012250", "name": "FGD4 Charcot-Marie-Tooth disease type 4", "description": "" }, { "id": "MONDO:0012250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012250", "name": "autosomal recessive Charcot-Marie-Tooth disease type 4H", "description": "" }, { "id": "MONDO:0012250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012250", "name": "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H", "description": "" }, { "id": "MONDO:0012250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012250", "name": "Charcot-Marie-Tooth disease, autosomal recessive, type 4H", "description": "" }, { "id": "MONDO:0012250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012250", "name": "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H", "description": "" }, { "id": "MONDO:0012250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012250", "name": "Charcot-Marie-Tooth disease, type 4H", "description": "" }, { "id": "MONDO:0012250", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012250", "name": "Charcot-Marie-Tooth neuropathy, type 4H", "description": "" }, { "id": "MIM:609311", "resource": "MIM", "url": "https://www.omim.org/entry/609311", "name": "Charcot-Marie-Tooth disease 4H", "description": "Charcot-Marie-Tooth disease 4H" } ], "evidence": [ { "id": "0110192", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110192" } ] }, { "disease_id": "DOID:10595", "recommended_name": { "id": "DOID:10595", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10595", "name": "Charcot-Marie-Tooth disease", "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm." }, "synonyms": [ { "id": "DOID:10595", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10595", "name": "CMT - Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease type 1A", "description": "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications." }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "CMT1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease, type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth neuropathy type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth syndrome type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "HMSN1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "hereditary motor and sensory neuropathy 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "microduplication 17p12", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "CMT 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot Marie Tooth disease type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth neuropathy, type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "HMSN 1A", "description": "" }, { "id": "MIM:118220", "resource": "MIM", "url": "https://www.omim.org/entry/118220", "name": "Charcot-Marie-Tooth disease, demyelinating, 1A", "description": "Charcot-Marie-Tooth disease, demyelinating, 1A" } ], "evidence": [ { "id": "10595", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10595" } ] }, { "disease_id": "DOID:6683", "recommended_name": { "id": "DOID:6683", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6683", "name": "X-linked Aarskog syndrome", "description": "A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face." }, "synonyms": [ { "id": "DOID:6683", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6683", "name": "Aarskog-Scott syndrome", "description": "" }, { "id": "DOID:6683", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:6683", "name": "Greig's syndrome", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "Aarskog-Scott syndrome, X-linked", "description": "Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature." }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "AAS", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "Aarskog disease", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "Aarskog syndrome", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "Aarskog-Scott syndrome", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "Aarskog-like syndrome", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "FGD", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "FGDY", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "Scott Aarskog syndrome", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "facio-digito-genital dysplasia", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "faciodigitogenital syndrome", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "faciodigitogenital syndrome, recessive", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "faciogenital dysplasia", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "Aarskog syndrome, X-linked", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "Aarskog-Scott syndrome, X-linked", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "Aarskog-Scott syndrome, X-linked recessive", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "mental retardation, X-linked syndromic 16, X-linked recessive", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "MRXS16, included", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "mental retardation, X-linked, syndromic 16", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "mental retardation, X-linked, syndromic 16, included", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "Aarskog Scott syndrome", "description": "" }, { "id": "MONDO:0010589", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010589", "name": "faciogenital dysplasia with attention Deficit-hyperactivity disorder", "description": "" }, { "id": "MIM:305400", "resource": "MIM", "url": "https://www.omim.org/entry/305400", "name": "Aarskog-Scott syndrome", "description": "Aarskog-Scott syndrome" } ], "evidence": [ { "id": "6683", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:6683" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K2U9", "url": "https://www.uniprot.org/uniprot/A0A0G2K2U9" } ], "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "gene": [ { "name": "Fgd3", "url": "https://www.uniprot.org/uniprot/A0A0G2K2U9", "locus": { "chromosome": "17", "start_pos": 15385712, "end_pos": 15336837, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSRNOG00000016225", "url": "https://www.ensembl.org/id/ENSRNOG00000016225" } ] } } ], "crossref": [ { "id": "A0A0G2K2U9", "url": "https://alphafold.ebi.ac.uk/entry/A0A0G2K2U9", "database": "AlphaFoldDB", "categories": [] }, { "id": "ENSRNOG00000016225", "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000016225", "database": "Bgee", "categories": [ "Gene 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Classification" ] }, { "id": "IPR051092", "url": "https://www.ebi.ac.uk/interpro/entry/IPR051092", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "rno:361223", "url": "https://www.genome.jp/dbget-bin/www_bget?rno:361223", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "RITGEWE", "url": "https://omabrowser.org/oma/group/RITGEWE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "A0A0G2K2U9", "url": "https://www.orthodb.org/?gene=A0A0G2K2U9", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "D3ZS34", "url": "https://www.orthodb.org/?gene=D3ZS34", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR12673", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12673", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR12673:SF14", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR12673:SF14", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00169", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00169", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00621", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF00621", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01363", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF01363", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-193648", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-193648", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-416482", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-416482", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-RNO-9013148", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9013148", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "XP_008769765", "url": "https://www.ncbi.nlm.nih.gov/protein/XP_008769765", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "1311725", "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1311725", "database": "RGD", "categories": [ "Organism-specific" ] }, { "id": "A0A0G2K2U9", "url": "https://www.uniprot.org/uniprot/A0A0G2K2U9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0G2K2U9-1", "url": "https://www.uniprot.org/uniprot/A0A0G2K2U9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6AL39", "url": "https://www.uniprot.org/uniprot/A0A8I6AL39", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8I6AL39-1", "url": "https://www.uniprot.org/uniprot/A0A8I6AL39-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3ZS34", "url": "https://www.uniprot.org/uniprot/D3ZS34", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D3ZS34-1", "url": "https://www.uniprot.org/uniprot/D3ZS34-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MELGRSSPTPQEEAISPLGVPDAGLRSSPLGKLQALPFGSGAPQGAQGSSASAGDSSLGEPSGAMKIPNRDSGIESPSSSVASENFPCEEGSEGSPSPAILGLHPEVAVDSRAPQDNPQEGEDSGVGEDPDPKITPCRPEEDVGSTQCSDPQKLLHIAQELLHTEEAYVKRLHLLDQVFCAKLTEAGIPPEVTTGIFSNISSIYRFHGQFLLPGLKKRITEEWDTKPRLGDILQKLAPFLKMYGEYVKNFDRAMGLVSTWTQRSPQFKDVIHTIQKQEVCGNLTLQHHMLEPVQRVPRYELLLKDYLKRLPRDAPDRKDAERSLELISIAADHSNAAIRKMEKMHKLLEVYEQLGGEEDIVNPANELIKEGNIQKLSAKNGTTQDRHLFLFNNVMLYCVPKLRLMGQKFSVREKMDISDLQVQDVVKPNAARTFIITGRKRSLELQTRTEEEKKEWIQVIQATVEKHKQKSETFRAFSGACTQEEEPSLSPDQPVLSAGPVEPAGVADSSGGTPGIESRKLSSKTRRDKEKPGCKSCGETFNSITKRRYRCKLCGEVICRKCSEFKAENSKQSRVCRECFLEEPLLPTSPSSETPTELKQNAEKPPSVDPRPSLLCGTLNLSDNGTAWSEVWAAIPESDPQVLDLLAGSQAGKLLYSIPLSGCNITVPDPEEGLEAGYVWKLHQGSQTWWLSAPSTKLQQRWLEALSTASRGDTAGDTPGASQPQTPASTDTP", "length": 733, "header": "tr|A0A0G2K2U9-1|A0A0G2K2U9_RAT Isoform 1 of FYVE, RhoGEF and PH domain containing 3 OS=Rattus norvegicus OX=10116 GN=Fgd3 PE=1 SV=1 CANONICAL=A0A0G2K2U9-1" }, "isoforms": [ { "isoform_ac": "A0A0G2K2U9-1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K2U9/entry#A0A0G2K2U9-1", "sequence": { "sequence": "MELGRSSPTPQEEAISPLGVPDAGLRSSPLGKLQALPFGSGAPQGAQGSSASAGDSSLGEPSGAMKIPNRDSGIESPSSSVASENFPCEEGSEGSPSPAILGLHPEVAVDSRAPQDNPQEGEDSGVGEDPDPKITPCRPEEDVGSTQCSDPQKLLHIAQELLHTEEAYVKRLHLLDQVFCAKLTEAGIPPEVTTGIFSNISSIYRFHGQFLLPGLKKRITEEWDTKPRLGDILQKLAPFLKMYGEYVKNFDRAMGLVSTWTQRSPQFKDVIHTIQKQEVCGNLTLQHHMLEPVQRVPRYELLLKDYLKRLPRDAPDRKDAERSLELISIAADHSNAAIRKMEKMHKLLEVYEQLGGEEDIVNPANELIKEGNIQKLSAKNGTTQDRHLFLFNNVMLYCVPKLRLMGQKFSVREKMDISDLQVQDVVKPNAARTFIITGRKRSLELQTRTEEEKKEWIQVIQATVEKHKQKSETFRAFSGACTQEEEPSLSPDQPVLSAGPVEPAGVADSSGGTPGIESRKLSSKTRRDKEKPGCKSCGETFNSITKRRYRCKLCGEVICRKCSEFKAENSKQSRVCRECFLEEPLLPTSPSSETPTELKQNAEKPPSVDPRPSLLCGTLNLSDNGTAWSEVWAAIPESDPQVLDLLAGSQAGKLLYSIPLSGCNITVPDPEEGLEAGYVWKLHQGSQTWWLSAPSTKLQQRWLEALSTASRGDTAGDTPGASQPQTPASTDTP", "length": 733, "header": "tr|A0A0G2K2U9-1|A0A0G2K2U9_RAT Isoform 1 of FYVE, RhoGEF and PH domain containing 3 OS=Rattus norvegicus OX=10116 GN=Fgd3 PE=1 SV=1 CANONICAL=A0A0G2K2U9-1" }, "locus": { "chromosome": "17", "start_pos": 15385220, "end_pos": 15350034, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000089310.2", "url": "https://www.ensembl.org/id/ENSRNOT00000089310.2" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000072384.1", "url": "https://www.ensembl.org/id/ENSRNOP00000072384.1" } ] } }, { "isoform_ac": "A0A8I6AL39-1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K2U9/entry#A0A8I6AL39-1", "sequence": { "sequence": "MELGRSSPTPQEEAISPLGVPDAGLRSSPLGKLQALPFGSGAPQGAQGSSASAGDSSLGEPSGAMKIPNRDSGIESPSSSVASENFPCEEGSEGSPSPAILGLHPEVAVDSRAPQDNPQEGEDSGVGEDPDPKITPCRPEEDVGSTQCSDPQKLLHIAQELLHTEEAYVKRLHLLDQVFCAKLTEAGIPPEVTTGIFSNISSIYRFHGQFLLPGLKKRITEEWDTKPRLGDILQKLAPFLKMYGEYVKNFDRAMGLVSTWTQRSPQFKDVIHTIQKQEVCGNLTLQHHMLEPVQRVPRYELLLKDYLKRLPRDAPDRKDAERSLELISIAADHSNAAIRKMEKMHKLLEVYEQLGGEEDIVNPANELIKEGNIQKLSAKNGTTQDRHLFLFNNVMLYCVPKLRLMGQKFSVREKMDISDLQVQDVVKPNAARTFIITGRKRSLELQTRYGTSSRSCRNICDPRRMQQPFNVIQATVEKHKQKSETFRAFSGACTQEEEPSLSPDQPVLSAGPVEPAGVADSSGGTPGIESRKLSSKTRRDKEKPGCKSCGETFNSITKRRYRCKLCGEVICRKCSEFKAENSKQSRVCRECFLEEPLLPTSPSSETPTELKQNAEKPPSVDPRPSLLCGTLNLSDNGTAWSEVWAAIPESDPQVLDLLAGSQAGKLLYSIPLSGCNITVPDPEEGLEAGYVWKLHQGSQTWWLSAPSTKLQQRWLEALSTASRGDTAGDTPGASQPQTPASTDTP", "length": 745, "header": "tr|A0A8I6AL39-1|A0A8I6AL39_RAT Computationally mapped isoform of FYVE, RhoGEF and PH domain containing 3 OS=Rattus norvegicus OX=10116 GN=Fgd3 PE=4 SV=1 CANONICAL=A0A0G2K2U9-1" }, "locus": { "chromosome": "17", "start_pos": 15385220, "end_pos": 15350034, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000102785.1", "url": "https://www.ensembl.org/id/ENSRNOT00000102785.1" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000093967.1", "url": "https://www.ensembl.org/id/ENSRNOP00000093967.1" } ] } }, { "isoform_ac": "D3ZS34-1", "url": "https://www.uniprot.org/uniprotkb/A0A0G2K2U9/entry#D3ZS34-1", "sequence": { "sequence": "MELGRSSPTPQEEAISPLGVPDAGLRSSPLGKLQALPFGSGAPQGAQGSSASAGDSSLGEPSGAMKIPNRDSGIESPSSSVASENFPCEEGSEGSPSPAILGLHPEVAVDSRAPQDNPQEGEDSGVGEDPDPKITPCRPEEDVGSTQCSDPQKLLHIAQELLHTEEAYVKRLHLLDQVFCAKLTEAGIPPEVTTGIFSNISSIYRFHGQFLLPGLKKRITEEWDTKPRLGDILQKLAPFLKMYGEYVKNFDRAMGLVSTWTQRSPQFKDVIHTIQKQEVCGNLTLQHHMLEPVQRVPRYELLLKDYLKRLPRDAPDRKDAERSLELISIAADHSNAAIRKMEKMHKLLEVYEQLGGEEDIVNPANELIKEGNIQKLSAKNGTTQDRHLFLFNNVMLYCVPKLRLMGQKFSVREKMDISDLQVQDVVKPNAARTFIITGRKRSLELQTRTEEEKKEWIQIESRKLSSKTRRDKEKPGCKSCGETFNSITKRRYRCKLCGEVICRKCSEFKAENSKQSRVCRECFLEEPLLPTSPSSETPTELKQNAEKPPSVDPRPSLLCGTLNLSDNGTAWSEVWAAIPESDPQVLDLLAGSQAGKLLYSIPLSGCNITVPDPEEGLEAGYVWKLHQGSQTWWLSAPSTKLQQRWLEALSTASRGDTAGDTPGASQPQTPASTDTP", "length": 676, "header": "tr|D3ZS34-1|D3ZS34_RAT Computationally mapped isoform of FYVE, RhoGEF and PH domain containing 3 OS=Rattus norvegicus OX=10116 GN=Fgd3 PE=1 SV=3 CANONICAL=A0A0G2K2U9-1" }, "locus": { "chromosome": "17", "start_pos": 15385220, "end_pos": 15350034, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSRNOT00000067311.4", "url": "https://www.ensembl.org/id/ENSRNOT00000067311.4" }, { "database": "Ensembl Peptide", "id": "ENSRNOP00000063011.3", "url": "https://www.ensembl.org/id/ENSRNOP00000063011.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool": "isoglyp", "mining_tool": "", "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "start_pos": 513, "start_aa": "T", "end_pos": 513, "end_aa": "T", "residue": "Thr", "site_lbl": "Thr513", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ], "filter_code": "00000000000000001000.00000000001000.1.01000" }, { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool": "isoglyp", "mining_tool": "", "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "start_pos": 9, "start_aa": "T", "end_pos": 9, "end_aa": "T", "residue": "Thr", "site_lbl": "Thr9", "evidence": [ { "id": "GLY_001157", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001157" } ], "filter_code": "00000000000000001000.00000000001000.1.01000" } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues.", "journal": "Nat. Commun.", "date": "2012", "authors": "Lundby A, Secher A, Lage K, Nordsborg NB, Dmytriyev A, Lundby C, Olsen JV", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K2U9", "url": "https://www.uniprot.org/uniprot/A0A0G2K2U9" } ], "reference": [ { "type": "PubMed", "id": "22673903", "url": "https://glygen.org/publication/PubMed/22673903" } ] } ], "pathway": [ { "id": "rno:361223", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?rno:361223", "resource": "KEGG Pathway" }, { "id": "R-RNO-193648", "name": "NRAGE signals death through JNK", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-193648", "resource": "Reactome", "description": "NRAGE signals death through JNK" }, { "id": "R-RNO-416482", "name": "G alpha (12/13) signalling events", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-416482", "resource": "Reactome", "description": "G alpha (12/13) signalling events" }, { "id": "R-RNO-9013148", "name": "CDC42 GTPase cycle", "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9013148", "resource": "Reactome", "description": "CDC42 GTPase cycle" } ], "orthologs": [ { "uniprot_canonical_ac": "I3L837-1", "protein_name": "FYVE, RhoGEF and PH domain containing 3", "gene_name": "FGD3", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MEPGGGSSMPPAPIAALGEPDAGPSSSSLELPSTDPGKLQALPVGPGVHCGDPASGSPDSQVSVGDSPQDMGSIGEPSSSTKIPNRDSGIDSPSCSVVSEHFPCEEGSEAAPGPTIKGLHPETASEGTTPREEADSDVGEGSSEEPEAENSRPRADADPAKCSKPQKLLHIAQELLHTEETYVKRLHLLDQVFCTQLTEAGIPSEVTTGIFSNISSIYRFHGQFLLPELQTRITTEWDTNPRLGDILQKLAPFLKMYGEYVKNFDRAVELVSTWTQRSPLFKDIVQGIQKQEMCGNLTLQHHMLEPVQRVPRYELLLKDYLKRLPEDAPDWKDAERSLELISTAANHSNAAIRKMEKMHKLLEVYERLGGEEDIVNPANELIKEGHIQKLSAKNGTAQDRHLFLFNSMILYCVPKLRLMGQKFSVREKMDISGLQVQDSIKPNSAHTFIITGKKRSLELQTRTEEEKKEWIQVIEATIEKHKQNSQTFKAFSGSFGQDEDSSFTADPPMVNTSSEVPAVVASGGGGAAGLEPRRASSRTRRDKEKQGCRSCGETFNSITKRKHHCKLCGAVICGKCSEFKAENGRQSRVCRECFLTQPAAPLNPSPDVPLEPKQSTEKPAAVDHPPSLLCGPLQVSDGSTAWSKVWAAIPESGPPELVLRLHGGSQDGQLLCAIPLSGCRVSVPDPADRLDARHMWRLQQGQQCWCLSAPSVELQQQWLEALSMAARRPPALAAP", "length": 735 }, "evidence": [ { "id": "A0A0G2K2U9", "url": "https://omabrowser.org/oma/group/A0A0G2K2U9/", "database": "OMA" } ], "glygen_name": "Pig", "common_name": "Pig" }, { "uniprot_canonical_ac": "O88842-1", "protein_name": "FYVE, RhoGEF and PH domain-containing protein 3", "gene_name": "Fgd3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MELGRSSSTPQEEAISPLGVLGTGPSSSPLGKLQALPIGPGAHRGAHSSSAPAGDSSTREPSGAMKIPNRDSGIDSPSSSVASENFPCEESSEGSPSPAILGLPSETASDSRVPQDNPQEEEDSGVGEEPDPKVTLFRPQEDVSLTQCSDPQKLLHIAQELLHTEEAYVKRLHLLDQVFCTKLTEAGIPLEVTTGIFSNISSIYRFHGQFLLPELQKRITEEWDTNPRLGDILQKLAPFLKMYGEYVKNFDRAMGLVSTWTQRSPQFKDVIHTIQKQEVCGNLTLQHHMLEPVQRVPRYELLLKDYLKRLPRDAPDRKDAERSLELISTAADHSNAAIRKMEKMHKLLEVYEQLGGEEDIVNPANELIKEGSIQKLSAKNGTTQDRHLFLFNNVMLYCVPKLRLMGQKLSVREKMDISDLQVQDIVKPNAACTFIITGRKRSLELQTRTEEEKKEWIQVIQATVEKHKQKSETFRAFGGACSQDEEPTLSPDQPVMSTSSVEPAGVADSNGGTPGIESRKSSSKTRRDKEKPGCKSCGETFNSITKRRYRCKLCGEVICRKCSEFKAENSKQSRVCRECFLEEPLVPPSPSSETPTELKQNAEKPPSVDPRPSLLCGTLNLSDDGTTWNEVWAAIPESDPQVLDLLAGSQAGRLLYSIPLSGCNITMPDPEEGLEAGCAWKLHQGSQTWWLSAPSTKLQQCWLKALGTAVHGDTAGDRPGASQPQAPAGTDTP", "length": 733 }, "evidence": [ { "id": "47573684", "url": "http://www.informatics.jax.org/homology/47573684", "database": "MGI" } ], "glygen_name": "Mouse", "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q5JSP0-1", "protein_name": "FYVE, RhoGEF and PH domain-containing protein 3", "gene_name": "FGD3", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MESGRGSSTPPGPIAALGMPDTGPGSSSLGKLQALPVGPRAHCGDPVSLAAAGDGSPDIGPTGELSGSLKIPNRDSGIDSPSSSVAGENFPCEEGLEAGPSPTVLGAHAEMALDSQVPKVTPQEEADSDVGEEPDSENTPQKADKDAGLAQHSGPQKLLHIAQELLHTEETYVKRLHLLDQVFCTRLTDAGIPPEVIMGIFSNISSIHRFHGQFLLPELKTRITEEWDTNPRLGDILQKLAPFLKMYGEYVKNFDRAVGLVSTWTQRSPLFKDVVHSIQKQEVCGNLTLQHHMLEPVQRVPRYELLLKDYLKRLPQDAPDRKDAERSLELISTAANHSNAAIRKVEKMHKLLEVYEQLGGEEDIVNPANELIKEGQIQKLSAKNGTPQDRHLFLFNSMILYCVPKLRLMGQKFSVREKMDISGLQVQDIVKPNTAHTFIITGRKRSLELQTRTEEEKKEWIQIIQATIEKHKQNSETFKAFGGAFSQDEDPSLSPDMPITSTSPVEPVVTTEGSSGAAGLEPRKLSSKTRRDKEKQSCKSCGETFNSITKRRHHCKLCGAVICGKCSEFKAENSRQSRVCRDCFLTQPVAPESTEKTPTADPQPSLLCGPLRLSESGETWSEVWAAIPMSDPQVLHLQGGSQDGRLPRTIPLPSCKLSVPDPEERLDSGHVWKLQWAKQSWYLSASSAELQQQWLETLSTAAHGDTAQDSPGALQLQVPMGAAAP", "length": 725 }, "evidence": [ { "id": "47573684", "url": "http://www.informatics.jax.org/homology/47573684", "database": "MGI" }, { "id": "A0A0G2K2U9", "url": "https://omabrowser.org/oma/group/A0A0G2K2U9/", "database": "OMA" } ], "glygen_name": "Human", "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K2U9", "url": "https://www.uniprot.org/uniprot/A0A0G2K2U9" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K2U9", "url": "https://www.uniprot.org/uniprot/A0A0G2K2U9" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 2, "go_terms": [ { "name": "filopodium assembly", "id": "GO:0046847", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046847", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K2U9", "url": "https://www.uniprot.org/uniprot/A0A0G2K2U9" } ], "pmid": "" }, { "name": "cytoskeleton organization", "id": "GO:0007010", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007010", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K2U9", "url": "https://www.uniprot.org/uniprot/A0A0G2K2U9" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K2U9", "url": "https://www.uniprot.org/uniprot/A0A0G2K2U9" } ], "pmid": "" }, { "name": "guanyl-nucleotide exchange factor activity", "id": "GO:0005085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005085", "evidence": [ { "database": "UniProtKB", "id": "A0A0G2K2U9", "url": "https://www.uniprot.org/uniprot/A0A0G2K2U9" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 199, "end_pos": 201, "annotation": "n_glycosylation_sequon" }, { "start_pos": 282, "end_pos": 284, "annotation": "n_glycosylation_sequon" }, { "start_pos": 380, "end_pos": 382, "annotation": "n_glycosylation_sequon" }, { "start_pos": 620, "end_pos": 622, "annotation": "n_glycosylation_sequon" }, { "start_pos": 624, "end_pos": 626, "annotation": "n_glycosylation_sequon" }, { "start_pos": 664, "end_pos": 666, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "structures": [ { "pdb_id": "AF-A0A0G2K2U9-F1", "pdb_chain": "global", "start_pos": 1, "end_pos": 733, "overlap": "1.0", "method": "AlphaFold", "type": "alphafold", "resolution": -1.0, "url": "https://data.glygen.org/ln2downloads/pdb/current/AF-A0A0G2K2U9-F1.pdb" } ], "synthesized_glycans": [], "enzyme_annotation": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 9, 513 ], "snv_sites": [], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 199, "end_pos": 201 }, { "start_pos": 282, "end_pos": 284 }, { "start_pos": 380, "end_pos": 382 }, { "start_pos": 620, "end_pos": 622 }, { "start_pos": 624, "end_pos": 626 }, { "start_pos": 664, "end_pos": 666 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "prediction_tool", "mining_tool", "site_category", "site_seq", "relation", "comment", "start_pos", 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