{ "uniprot_canonical_ac": "A0A0G2JST1-1", "ptm_annotation": [], "sequence": { "header": "tr|A0A0G2JST1-1|A0A0G2JST1_RAT Isoform 1 of Adhesion G protein-coupled receptor G6 OS=Rattus norvegicus OX=10116 GN=Adgrg6 PE=1 SV=1 CANONICAL=A0A0G2JST1-1", "length": 1193, "sequence": "MMFDTRGRRCCHWRQKSSTLLFLFALCVACFPLPVWGCGNCRLVLSNPSGTFTSPCYPNDYPNTQSCSWTLRAPTGYIIQITFNDFDIEEAPNCIYDSLSLDNGESQTKFCGATAKGLSFNSSVNEMHVSFSSDFSIQKKGFNASYIRVAVSLRNQKVILPQTLDAYQVSVAKSISIPELKAFTLCFEASKVGNEDDDWTAFSYSDKSLTQLLSLEKANNGYFLSISGARCLLNNALPVKEKEDIFTGNFEQLCLVWNNSWGSVGINFKKNYETIPCDLTIGTVVPGDGTLLLGSDRDEIASLKGSVYNFRLWNFTMDPKSLSNLSCSMSGNVIDWHNDFWSISTQALKAENNLSCGSYLIPLPAAELTNCSDLGTLCQATVSPPTPPSPIVTTNIPVTNRIRKQKNDGIMYRISVVIHNDLNHPEVRVQSKVAEWLNATFQNWNYTVYVVNISFHQDLGEDRMKVKRDVMDDDKRLVLWALLVYNATNNVSLNGEMIEQKLSANNASLEDGIRLCKVDVKQLGMCNTLGDPEGFKWTAISPSVYKQPCPNKPGFFMMRTCLCNETSTFWGPIDASNCSRQSNEVANEILDLTGDGQNLTSANINSIVEQVKRIVNKEENIDRTLGSTLMNIFSNILSSSDSNLLESSTEALKTIDELAFKIDLNSTPHVNIETQNLALGVSSLMPGTNAPSNFSIGLPSNNDSYFQMDFENGQADPLASVILPPNLLENLSPEDSILVRRAQFTFFNKTGLFQDVGSQRKILVSYVMACSIGNITIQNLKDPVQIKIKHTRTQEVHQPICAFWDLNQNKSFGGWNTSGCVAHSDSDAGETICLCNHFTHFGVLMDLPRSASQIDGRNTKVLTFITYIGCGISAIFSAATLLTYVAFEKLRRDYPSKILMNLSSALLFLNLIFLLDGWITSFGVAGLCTAVAALLHFFLLATFTWMGLEAIHMYIALVKVFNTYIHRYILKFCIIGWGLPALVVSIILVSRKQNEVYGKESYGKDQDDEFCWIQDPVVFYVSCAGYFGIMFFLNVAMFIVVMVQICGRNGKRSNRTLREEVLRNLRSVVSLTFLLGMTWGFAFFAWGPLNIPFMYLFSIFNSLQGLFIFIFHCAMKENVQKQWRRHLCCGRFRLADNSDWSKTATNIIKKSSDNLGKSLSSSSIGSNSTYLTSKSKSSSTTYFKRNSHSDNFS" }, "uniprot_id": "A0A0G2JST1_RAT", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16641100", "type": [ "PubMed" ], "id": "16641100" } ], "title": "Quantitative phosphoproteomics of vasopressin-sensitive renal cells: regulation of aquaporin-2 phosphorylation at two sites.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "authors": "Wang G., Shen R.F., Knepper M.A., Shen R.-F., Hoffert J.D., Pisitkun T.", "date": "2006" } ], "uniprot_ac": "A0A0G2JST1", "site_annotation": [ { "end_pos": 1056, "annotation": "n_glycosylation_sequon", "start_pos": 1054 }, { "end_pos": 1169, "annotation": "n_glycosylation_sequon", "start_pos": 1167 }, { "end_pos": 1193, "annotation": "n_glycosylation_sequon", "start_pos": 1191 }, { "end_pos": 123, "annotation": "n_glycosylation_sequon", "start_pos": 121 }, { "end_pos": 145, "annotation": "n_glycosylation_sequon", "start_pos": 143 }, { "end_pos": 260, "annotation": "n_glycosylation_sequon", "start_pos": 258 }, { "end_pos": 316, "annotation": "n_glycosylation_sequon", "start_pos": 314 }, { "end_pos": 326, "annotation": "n_glycosylation_sequon", "start_pos": 324 }, { "end_pos": 355, "annotation": "n_glycosylation_sequon", "start_pos": 353 }, { "end_pos": 372, "annotation": "n_glycosylation_sequon", "start_pos": 370 }, { "end_pos": 440, "annotation": "n_glycosylation_sequon", "start_pos": 438 }, { "end_pos": 447, "annotation": "n_glycosylation_sequon", "start_pos": 445 }, { "end_pos": 454, "annotation": "n_glycosylation_sequon", "start_pos": 452 }, { "end_pos": 488, "annotation": "n_glycosylation_sequon", "start_pos": 486 }, { "end_pos": 492, "annotation": "n_glycosylation_sequon", "start_pos": 490 }, { "end_pos": 508, "annotation": "n_glycosylation_sequon", "start_pos": 506 }, { "end_pos": 566, "annotation": "n_glycosylation_sequon", "start_pos": 564 }, { "end_pos": 579, "annotation": "n_glycosylation_sequon", "start_pos": 577 }, { "end_pos": 600, "annotation": "n_glycosylation_sequon", "start_pos": 598 }, { "end_pos": 667, "annotation": "n_glycosylation_sequon", "start_pos": 665 }, { "end_pos": 695, "annotation": "n_glycosylation_sequon", "start_pos": 693 }, { "end_pos": 704, "annotation": "n_glycosylation_sequon", "start_pos": 702 }, { "end_pos": 732, "annotation": "n_glycosylation_sequon", "start_pos": 730 }, { "end_pos": 750, "annotation": "n_glycosylation_sequon", "start_pos": 748 }, { "end_pos": 776, "annotation": "n_glycosylation_sequon", "start_pos": 774 }, { "end_pos": 811, "annotation": "n_glycosylation_sequon", "start_pos": 809 }, { "end_pos": 818, "annotation": "n_glycosylation_sequon", "start_pos": 816 }, { "end_pos": 903, "annotation": "n_glycosylation_sequon", "start_pos": 901 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1#A0A0G2JST1-1", "isoform_ac": "A0A0G2JST1-1", "locus": { "end_pos": 8598358, "strand": "+", "start_pos": 8751011, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000030511", "id": "ENSRNOT00000030511", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000029263", "id": "ENSRNOP00000029263", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0G2JST1-1|A0A0G2JST1_RAT Isoform 1 of Adhesion G protein-coupled receptor G6 OS=Rattus norvegicus OX=10116 GN=Adgrg6 PE=1 SV=1 CANONICAL=A0A0G2JST1-1", "length": 1193, "sequence": "MMFDTRGRRCCHWRQKSSTLLFLFALCVACFPLPVWGCGNCRLVLSNPSGTFTSPCYPNDYPNTQSCSWTLRAPTGYIIQITFNDFDIEEAPNCIYDSLSLDNGESQTKFCGATAKGLSFNSSVNEMHVSFSSDFSIQKKGFNASYIRVAVSLRNQKVILPQTLDAYQVSVAKSISIPELKAFTLCFEASKVGNEDDDWTAFSYSDKSLTQLLSLEKANNGYFLSISGARCLLNNALPVKEKEDIFTGNFEQLCLVWNNSWGSVGINFKKNYETIPCDLTIGTVVPGDGTLLLGSDRDEIASLKGSVYNFRLWNFTMDPKSLSNLSCSMSGNVIDWHNDFWSISTQALKAENNLSCGSYLIPLPAAELTNCSDLGTLCQATVSPPTPPSPIVTTNIPVTNRIRKQKNDGIMYRISVVIHNDLNHPEVRVQSKVAEWLNATFQNWNYTVYVVNISFHQDLGEDRMKVKRDVMDDDKRLVLWALLVYNATNNVSLNGEMIEQKLSANNASLEDGIRLCKVDVKQLGMCNTLGDPEGFKWTAISPSVYKQPCPNKPGFFMMRTCLCNETSTFWGPIDASNCSRQSNEVANEILDLTGDGQNLTSANINSIVEQVKRIVNKEENIDRTLGSTLMNIFSNILSSSDSNLLESSTEALKTIDELAFKIDLNSTPHVNIETQNLALGVSSLMPGTNAPSNFSIGLPSNNDSYFQMDFENGQADPLASVILPPNLLENLSPEDSILVRRAQFTFFNKTGLFQDVGSQRKILVSYVMACSIGNITIQNLKDPVQIKIKHTRTQEVHQPICAFWDLNQNKSFGGWNTSGCVAHSDSDAGETICLCNHFTHFGVLMDLPRSASQIDGRNTKVLTFITYIGCGISAIFSAATLLTYVAFEKLRRDYPSKILMNLSSALLFLNLIFLLDGWITSFGVAGLCTAVAALLHFFLLATFTWMGLEAIHMYIALVKVFNTYIHRYILKFCIIGWGLPALVVSIILVSRKQNEVYGKESYGKDQDDEFCWIQDPVVFYVSCAGYFGIMFFLNVAMFIVVMVQICGRNGKRSNRTLREEVLRNLRSVVSLTFLLGMTWGFAFFAWGPLNIPFMYLFSIFNSLQGLFIFIFHCAMKENVQKQWRRHLCCGRFRLADNSDWSKTATNIIKKSSDNLGKSLSSSSIGSNSTYLTSKSKSSSTTYFKRNSHSDNFS" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9619665", "resource": "Reactome", "id": "R-RNO-9619665", "name": "EGR2 and SOX10-mediated initiation of Schwann cell myelination" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "Q6F3F9-1", "protein_name": "Adhesion G-protein coupled receptor G6", "sequence": { "length": 1165, "sequence": "MMFDTLGKRCCPWRLKPSALLFLFVLCVTCVPLSVCGCGSCRLVLSNPSGTFTSPCYPNDYPNTQSCSWTLRAPAGYIIQITFNDFDIEEAPNCIYDSLSLDNGESQTKFCGATAKGLSFNSSVNEMHVSFSSDFSIQKKGFNASYIRVAVSLRNQKVILPQTLDAYQVSVAKSISIPELKAFTLCFEASKVGNEGGDWTAFSYSDESLTQLLSLEKASNGYFLSISGSRCLLNNALPVKDKEDIFTENLEQLCLVWNNSWGSIGINFKKNYETVPCDSTISAVVPGDGTLLLGSDRDEVASLRGSIYNFRLWNFTMDLKALSNLSCSVSGNVIDWHNDFWSISTQALKAEGNLSCGSYLIQLPAAELTNCSELGTLCQDGIMYRISVVIHNDFNHPEVKVQTKVAEWLNSTFQNWNYTVYVVNISFHQKVGEDRMKVKRDIMDDDKRLVLWALLVYNATNNVSLNEEKIKQKLMTNNASLEDGLRLCEVDVNQLGMCSALEDPDGFSWPATLPSVYKQPCPNKPGFFMTRACLSNGTSTFWGPVDTSNCSRQSNEVANEILNQTGDGQNLTSANINSIVEKVKRIVNKEENIDITLGSTLMNIFSNILSSSDSDLLESSTEALKTIDELAFKIDLNSTPHVNIETQNLALGVSSLIPGTNAPSNFSIGLPSNNESYFQMDFGNGQTDPLASVILPPNLLENLSPEDSVLVRRAQFTFFNKTGLFQDVGSQRKVLVSYVMACSIGNITIQNLKDPVQIKIKHTRTQEVHHPICAFWDMNKNKSFGGWNTSGCVAHSDLDAGETICLCSHFTHFGVLMDLPRSASQIDGRNTKVLTFITYIGCGISAIFSAATLLTYVAFEKLRRDYPSKILMNLSSALLFLNLIFLLDGWVTSFGVAGLCTAVAALLHFFLLATFTWMGLEAIHMYIALVKVFNTYIHRYILKFCIIGWGLPALVVSIILVSRRQNEVYGKESYGKDQDDEFCWIQDPVVFYVSCAGYFGVMFFLNVAMFIVVMVQICGRNGKRSNRTLREEVLRNLRSVVSLTFLLGMTWGFAFFAWGPLNIPFMYLFSIFNSLQGLFIFIFHCAMKENVQKQWRRHLCCGRFRLADNSDWSKTATNIIKKSSDNLGKSLSSSSIGSNSTYLTSKSKSSSTTYFKRNSHSDNFS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/10724", "id": "10724", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A0A0G2JST1/", "id": "A0A0G2JST1", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Adgrg6", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q86SQ4-1", "protein_name": "Adhesion G-protein coupled receptor G6", "sequence": { "length": 1221, "sequence": "MMFRSDRMWSCHWKWKPSPLLFLFALYIMCVPHSVWGCANCRVVLSNPSGTFTSPCYPNDYPNSQACMWTLRAPTGYIIQITFNDFDIEEAPNCIYDSLSLDNGESQTKFCGATAKGLSFNSSANEMHVSFSSDFSIQKKGFNASYIRVAVSLRNQKVILPQTSDAYQVSVAKSISIPELSAFTLCFEATKVGHEDSDWTAFSYSNASFTQLLSFGKAKSGYFLSISDSKCLLNNALPVKEKEDIFAESFEQLCLVWNNSLGSIGVNFKRNYETVPCDSTISKVIPGNGKLLLGSNQNEIVSLKGDIYNFRLWNFTMNAKILSNLSCNVKGNVVDWQNDFWNIPNLALKAESNLSCGSYLIPLPAAELASCADLGTLCQATVNSPSTTPPTVTTNMPVTNRIDKQRNDGIIYRISVVIQNILRHPEVKVQSKVAEWLNSTFQNWNYTVYVVNISFHLSAGEDKIKVKRSLEDEPRLVLWALLVYNATNNTNLEGKIIQQKLLKNNESLDEGLRLHTVNVRQLGHCLAMEEPKGYYWPSIQPSEYVLPCPDKPGFSASRICFYNATNPLVTYWGPVDISNCLKEANEVANQILNLTADGQNLTSANITNIVEQVKRIVNKEENIDITLGSTLMNIFSNILSSSDSDLLESSSEALKTIDELAFKIDLNSTSHVNITTRNLALSVSSLLPGTNAISNFSIGLPSNNESYFQMDFESGQVDPLASVILPPNLLENLSPEDSVLVRRAQFTFFNKTGLFQDVGPQRKTLVSYVMACSIGNITIQNLKDPVQIKIKHTRTQEVHHPICAFWDLNKNKSFGGWNTSGCVAHRDSDASETVCLCNHFTHFGVLMDLPRSASQLDARNTKVLTFISYIGCGISAIFSAATLLTYVAFEKLRRDYPSKILMNLSTALLFLNLLFLLDGWITSFNVDGLCIAVAVLLHFFLLATFTWMGLEAIHMYIALVKVFNTYIRRYILKFCIIGWGLPALVVSVVLASRNNNEVYGKESYGKEKGDEFCWIQDPVIFYVTCAGYFGVMFFLNIAMFIVVMVQICGRNGKRSNRTLREEVLRNLRSVVSLTFLLGMTWGFAFFAWGPLNIPFMYLFSIFNSLQGLFIFIFHCAMKENVQKQWRQHLCCGRFRLADNSDWSKTATNIIKKSSDNLGKSLSSSSIGSNSTYLTSKSKSSSTTYFKRNSHTDNVSYEHSFNKSGSLRQCFHGQVLVKTGPC" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/10724", "id": "10724", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "ADGRG6", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_017443627.1", "ac": "XP_017443627.1", "name": "G-protein coupled receptor 126 isoform X4", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004930", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "G protein-coupled receptor activity", "id": "GO:0004930" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043236", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "laminin binding", "id": "GO:0043236" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005887", "pmid": "21873635", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "integral component of plasma membrane", "id": "GO:0005887" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "cell surface", "id": "GO:0009986" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007166", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "cell surface receptor signaling pathway", "id": "GO:0007166" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007189", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "adenylate cyclase-activating G protein-coupled receptor signaling pathway", "id": "GO:0007189" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042552", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "myelination", "id": "GO:0042552" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0019933", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "cAMP-mediated signaling", "id": "GO:0019933" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007005", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "mitochondrion organization", "id": "GO:0007005" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0022011", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "myelination in peripheral nervous system", "id": "GO:0022011" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014037", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "Schwann cell differentiation", "id": "GO:0014037" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060347", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "name": "heart trabecula formation", "id": "GO:0060347" } ], "total": 8, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2JST1", "type": "synonym", "resource": "RefSeq", "name": "Adgrg6" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "type": "recommended", "resource": "UniProtKB", "name": "Adgrg6" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000011411", "id": "ENSRNOG00000011411", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00041", "id": "cd00041", "database": "CDD" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/308376", "id": "308376", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000203", "id": "IPR000203", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000832", "id": "IPR000832", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000859", "id": "IPR000859", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001759", "id": "IPR001759", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013320", "id": "IPR013320", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR017981", "id": "IPR017981", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR017983", "id": "IPR017983", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR035914", "id": "IPR035914", "database": "InterPro" }, { "url": "https://omabrowser.org/oma/group/MPDTNRT/", "id": "MPDTNRT", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=148879at2759", "id": "148879at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00002", "id": "PF00002", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF00354", "id": "PF00354", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF00431", "id": "PF00431", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF01825", "id": "PF01825", "database": "Pfam" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-9619665", "id": "R-RNO-9619665", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_017443627.1", "id": "XP_017443627.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1308551", "id": "1308551", "database": "RGD" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "id": "A0A0G2JST1", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0009670", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "resource": "MONDO", "name": "lethal congenital contracture syndrome 1", "description": "" }, { "id": "MONDO:0009670", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "resource": "MONDO", "name": "Lccs", "description": "" }, { "id": "MONDO:0009670", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "resource": "MONDO", "name": "GLE1 lethal congenital contracture syndrome", "description": "" }, { "id": "MONDO:0009670", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "resource": "MONDO", "name": "lethal congenital contracture syndrome caused by mutation in GLE1", "description": "" }, { "id": "MONDO:0009670", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "resource": "MONDO", "name": "lethal congenital contracture syndrome type 1", "description": "" }, { "id": "MONDO:0009670", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "resource": "MONDO", "name": "Herva disease", "description": "" }, { "id": "MONDO:0009670", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "resource": "MONDO", "name": "lethal congenital contracture syndrome 1; LCCS1", "description": "" }, { "id": "MONDO:0009670", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "resource": "MONDO", "name": "LCCS1", "description": "" }, { "id": "MONDO:0009670", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "resource": "MONDO", "name": "lethal autosomal recessive syndrome of multiple congenital contractures", "description": "" }, { "id": "MONDO:0009670", "url": "https://monarchinitiative.org/disease/MONDO:0009670", "resource": "MONDO", "name": "multiple contracture syndrome, Finnish type", "description": "" } ], "recommended_name": { "id": "DOID:0060558", "url": "http://disease-ontology.org/term/DOID:0060558", "resource": "Disease Ontology", "name": "lethal congenital contracture syndrome", "description": "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0060558#disease-associations", "id": "0060558", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 133221.0, "chemical_mass": 133221.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1", "name": "Adgrg6", "locus": { "end_pos": 8593075, "strand": "-", "start_pos": 8751198, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000011411", "id": "ENSRNOG00000011411", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JST1#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Adhesion G protein-coupled receptor G6" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2JST1", "type": "synonym", "resource": "RefSeq", "name": "G-protein coupled receptor 126 isoform X4" } ] }