{ "uniprot_canonical_ac": "A0A1B0GVM2-1", "uniprot_ac": "A0A1B0GVM2", "uniprot_id": "A0A1B0GVM2_HUMAN", "mass": { "chemical_mass": 78905.0, "monoisotopic_mass": 78905.0 }, "refseq": {}, "gene_names": [ { "name": "TCAF2C", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2", "id": "A0A1B0GVM2" } ], "protein_names": [ { "name": "TRPM8 channel associated factor 2C", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GVM2/entry#names_and_taxonomy", "id": "A0A1B0GVM2" } ], "function": [], "disease": [], "snv": [ { "evidence": [ { "id": "rs796821490", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs796821490" }, { "id": "rs796821490", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs796821490" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 580, "end_pos": 580, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HET->NET).", "chr_id": "7", "chr_pos": "143642786", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H580", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GVM2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "gene": [ { "name": "TCAF2C", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2", "locus": { "chromosome": "7", "start_pos": 143639230, "end_pos": 143647646, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000283528", "url": "https://www.ensembl.org/id/ENSG00000283528" } ] } } ], "crossref": [ { "id": "ENSG00000283528", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000283528", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "TCAF2C", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TCAF2C", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "53641", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=53641", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR031161", "url": "https://www.ebi.ac.uk/interpro/entry/IPR031161", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035423", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035423", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR042279", "url": "https://www.ebi.ac.uk/interpro/entry/IPR042279", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR051244", "url": "https://www.ebi.ac.uk/interpro/entry/IPR051244", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "FNCFLAA", "url": "https://omabrowser.org/oma/group/FNCFLAA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "PTHR15730", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15730", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR15730:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR15730:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF13402", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF13402", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF17291", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF17291", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "A0A1B0GVM2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B0GVM2-1", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "XYGEDVRQDQQQLLEGISELDIRTGGVPSQLLVHGALAFPLGLDASLNCFLAAAHYGRGRVVLAAHECLLCAPKMGPFLLNAVRWLARGQTGKVGVNTNLKDLCPLLSEHGLQCSLEPHLNSDLCVYCCKAYSDKEAKQLQEFVAEGGGLLIGGQAWWWASQNPGHCPLAGFPGNIILNCFGLSILPQTLKAGCFPVPTPEMRSYHFRKALSQFQAILNHENGNLEKSCLAKLRVDGAAFLQIPAEGVPAYISLHRLLRKMLRGSGLPAVSRENPVASDSYEAAVLSLATGLAHSGTDCSQLAQGLGTWTCSSSLYPSKHPITVEINGINPGNNDCWVSTGLYLLEGQNAEVSLSEAAASAGLRVQIGCHTDDLTKARKLSRAPVVTHQCWMDRTERSVSCLWGGLLYVIVPKGSQLGPVPVTIRGAVPAPYYKLGKTSLEEWKRQMQENLAPWGELATDNIILTVPTTNLQALKDPEPVLRLWDEMMQAVARLAAEPFPFRRPERIVADVQISAGWMHSGYPIMCHLESVKEIINEMDMRSRGVWGPIHELGHNQQWHGWEFPPHTTEATCNLWSVYVHETVLGIPRAQAHEALSPPERERRIKAHLGKGAPLCDWNVWTALETYLQLQQAFGWEPFTQLFAEYQTLSHLPKDNTGRMNLWVKKFSEKVKKNLVPFFEAWGWPIQKEVADSLASLPEWQENPMQVYLRARK", "length": 712, "header": "tr|A0A1B0GVM2-1|A0A1B0GVM2_HUMAN Isoform 1 of TRPM8 channel associated factor 2C OS=Homo sapiens OX=9606 GN=TCAF2C PE=4 SV=1 CANONICAL=A0A1B0GVM2-1" }, "isoforms": [ { "isoform_ac": "A0A1B0GVM2-1", "url": "https://www.uniprot.org/uniprotkb/A0A1B0GVM2/entry#A0A1B0GVM2-1", "sequence": { "sequence": "XYGEDVRQDQQQLLEGISELDIRTGGVPSQLLVHGALAFPLGLDASLNCFLAAAHYGRGRVVLAAHECLLCAPKMGPFLLNAVRWLARGQTGKVGVNTNLKDLCPLLSEHGLQCSLEPHLNSDLCVYCCKAYSDKEAKQLQEFVAEGGGLLIGGQAWWWASQNPGHCPLAGFPGNIILNCFGLSILPQTLKAGCFPVPTPEMRSYHFRKALSQFQAILNHENGNLEKSCLAKLRVDGAAFLQIPAEGVPAYISLHRLLRKMLRGSGLPAVSRENPVASDSYEAAVLSLATGLAHSGTDCSQLAQGLGTWTCSSSLYPSKHPITVEINGINPGNNDCWVSTGLYLLEGQNAEVSLSEAAASAGLRVQIGCHTDDLTKARKLSRAPVVTHQCWMDRTERSVSCLWGGLLYVIVPKGSQLGPVPVTIRGAVPAPYYKLGKTSLEEWKRQMQENLAPWGELATDNIILTVPTTNLQALKDPEPVLRLWDEMMQAVARLAAEPFPFRRPERIVADVQISAGWMHSGYPIMCHLESVKEIINEMDMRSRGVWGPIHELGHNQQWHGWEFPPHTTEATCNLWSVYVHETVLGIPRAQAHEALSPPERERRIKAHLGKGAPLCDWNVWTALETYLQLQQAFGWEPFTQLFAEYQTLSHLPKDNTGRMNLWVKKFSEKVKKNLVPFFEAWGWPIQKEVADSLASLPEWQENPMQVYLRARK", "length": 712, "header": "tr|A0A1B0GVM2-1|A0A1B0GVM2_HUMAN Isoform 1 of TRPM8 channel associated factor 2C OS=Homo sapiens OX=9606 GN=TCAF2C PE=4 SV=1 CANONICAL=A0A1B0GVM2-1" }, "locus": { "chromosome": "7", "start_pos": 143647646, "end_pos": 143639671, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000636941.1", "url": "https://www.ensembl.org/id/ENST00000636941.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000490573.1", "url": "https://www.ensembl.org/id/ENSP00000490573.1" } ] } } ], "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": 199, "start_aa": "T", "end_pos": 199, "end_aa": "T", "residue": "Thr", "site_lbl": "Thr199", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ], "filter_code": "00000000000000001000.00000000001000.1.01000" } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [], "pathway": [], "orthologs": [ { "uniprot_canonical_ac": "Q6P6V7-1", "protein_name": "TRPM8 channel-associated factor 3", "gene_name": "Tcaf3", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MATTPDAAFEALMNGVTSWNLPKEPTPSELLLTGEAAFPVMVNDKDQVLIAASFYGHGRLVVLSHESYLLHAGLAPFLLNAVSWLCPSPEAPIAVHSSLASLVKILGDSGVNAVVQPEPREALGVYCIDAYSETLTETLIRFMKNGGGLLIGGQALTWAVHHGHEKVLSSFPGNQVTSVAGVYFTDISGNRDWFKVSKEIPNLTLYVQCEDELKYDQQQLLKGMSEMDIETGPVPSQLLVHGQRAFPLGVDNSFNCFLAAARFGRGRVVLAGHESLILNQTMLPFVLNALRWLMGNQTGRIGLASEMKALKSVLPNSSFEWSETELLTNDLSVFCSCSLGKTDPKKVEEFVAEGGGLLIGAEAWMWGRRNPDSNCMTQYPNNIILKRFGVGIISQVVQRGRFPVPNPEVINYHIRRALSQYESVIHSQGSSLQEGWLNKLSQDCFYMFQMTHQRISIYDSVKEHALKMIQSQGFPSVTEQHPITKGSSQAFLLSLAYELFKSGVDRSQLLPPPTLLSPTESPMTIKISTGNDNSWVSTGLYLPEGQVAQVTLPTEATHAKLKVLIGCHIDNISQAKTYIRPPVMTYVYHLTSSQTSISWLYGGLLYIMVPDKYNQDNVSVTISGAVSAPYFRLGKTTQEEWKNLIEHSKAPWGELATDNIILTIPTVNLKVLQDPYPLLQLWDKIVKAVAKLAARPFPFQRPERIVLDKQISFGFLHSGYPIMGLIIIVEGIINEFKIRSHGVWGVTHELGHNHQKPGWTFRPHTTEALCNLWSIYVHETVLNIPRDQAHPSLNPELRKQRIKDHLNKGAPLSNWIVWTALETYLQLQEGFGWEPFIQLFANYQTLTGLPQNNEDKMNLWVKKFSEVVQKNLAPFFKAWGWPVQHAVAKSLASLPEWQENPMKMYTAESTEHTE", "length": 914 }, "evidence": [ { "id": "A0A1B0GVM2", "url": "https://omabrowser.org/oma/group/A0A1B0GVM2/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "Q6QR59-1", "protein_name": "TRPM8 channel-associated factor 3", "gene_name": "Tcaf3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MATTPDAAFETLMNGVTSWDLPKEPIPSELLLTGESAFPVMVNDKGQVLIAASSYGQGRLVVVSHESYLLHDGLVPFLLNVVKWLCPCPGAPIAVHSSLASLVNILGDSGINALVQPEPGEALGVYCIDAYNDALTEKLIQFLKNGGGLLIGGQALNWAAHHGHDKVLSIFPGNQVTSVAGVYFTDISANRDWFKVSKEIPNLRLYVQCEDELEDDQQQLLKGMSEIYIEAGVIPSQLLVHGQRAFPLGVDNSLNCFLAAARYGRGRVVLGGNESLILNQTMLPFVLNALHWLMGNQTGRIGLASDMKVLKSMLPNSSFQWSESELLTSDLSVFCCCSLANIDSEEVEEFVAEGGGLLIGAEAWSWGRRNPYSSCMTQYPDNIVLKRFGLGITSHVAQRGSFPFPNPEGTNYHFRRALSQFESVIYSRGSSLHESWLNKLSQDCFYMFQMTHQRISIYDSVKKHALKMIQSKDFPSVTEQYPIARGSSQAFLLSLAYELFKSGVDRSQLLPPPALLPPTESPITIKISTDNDNSWVSTGLYLPEGQVAQVLLPSEATHAKLKVLIGCHRDNISQARTYFRPPVMTYVYHLTSSQTSISWLYGGLLYIMVPNKYNQDNVSVTIRGAVSAPYFRLGKTTQEEWKNLITHSKAPWGELATDNIILTIPTVNLKELQDPYPLLQLWDKMVRAVAKLAARPFPFQRAERVVLDKQISFGFLHSGYPIMGLISIVEGIISEFKIRSHGIWGVIHELGHNHQKSGWTFPPHTTEALCNLWTIYVHETVLNIPREQAHPSLNPELRRQRIKYHLNKGAPLSNWIMWTALETYLQLQEGFGWEPFIQVFADYRTLSGLPQNNEDKMNLWVKKFSEAVHKNLAPFFEAWGWPVKYAVAKSLASLPEWQENPMKRYTAEGTEGRE", "length": 914 }, "evidence": [ { "id": "A0A1B0GVM2", "url": "https://omabrowser.org/oma/group/A0A1B0GVM2/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GVM2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2" } ], "pmid": "" }, { "name": "cell junction", "id": "GO:0030054", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030054", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GVM2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "transmembrane transporter binding", "id": "GO:0044325", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0044325", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GVM2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "positive regulation of protein targeting to membrane", "id": "GO:0090314", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090314", "evidence": [ { "database": "UniProtKB", "id": "A0A1B0GVM2", "url": "https://www.uniprot.org/uniprot/A0A1B0GVM2" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "structures": [], "synthesized_glycans": [], "enzyme_annotation": [], "cluster_types": [ { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [], "o_linked_sites": [ 199 ], "snv_sites": [ 580 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "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": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "prediction_tool", "mining_tool", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "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": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "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": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "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": 1 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "prediction_tool", "mining_tool", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "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": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "sequence_org", "sequence_mut", "comment", "chr_id", "chr_pos", "ref_nt", "alt_nt", "minor_allelic_frequency", "site_lbl" ] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] } ] }