{ "uniprot_canonical_ac": "P0DPE3-1", "uniprot_ac": "P0DPE3", "uniprot_id": "TMDD1_HUMAN", "mass": { "chemical_mass": 33577.0, "monoisotopic_mass": 33577.0 }, "refseq": {}, "gene_names": [ { "name": "TMDD1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0DPE3", "id": "P0DPE3" }, { "name": "C12orf81", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P0DPE3", "id": "P0DPE3" } ], "protein_names": [ { "name": "Transmembrane and death domain protein 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0DPE3" } ], "function": [], "disease": [], "snv": [ { "evidence": [ { "id": "rs1377530287", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1377530287" }, { "id": "rs1377530287", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1377530287#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 78, "end_pos": 78, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->STT).", "chr_id": "12", "chr_pos": "51814661", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N78", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs912686269", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs912686269" }, { "id": "rs912686269", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs912686269#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 80, "end_pos": 80, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->NTK).", "chr_id": "12", "chr_pos": "51814655", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T80", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P0DPE3", "url": "https://www.uniprot.org/uniprot/P0DPE3" } ], "common_name": "Human" } ], "gene": [ { "name": "TMDD1", "url": "https://www.uniprot.org/uniprot/P0DPE3", "locus": { "chromosome": "12", "start_pos": 51813921, "end_pos": 51814925, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000284730", "url": "https://www.ensembl.org/id/ENSG00000284730" } ] } } ], "crossref": [ { "id": "ENSG00000284730", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000284730", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "TMDD1", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMDD1", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "53646", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=53646", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "IPR000488", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000488", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "NX_P0DPE3", "url": "https://www.nextprot.org/entry/NX_P0DPE3", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "CWETKPL", "url": "https://omabrowser.org/oma/group/CWETKPL/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4602585at2759", "url": "http://www.orthodb.org/?query=4602585at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PR_P0DPE3", "url": "http://purl.obolibrary.org/obo/PR_P0DPE3", "database": "PRO", "categories": [ "Protein" ] }, { "id": "P0DPE3", "url": "https://www.uniprot.org/uniprot/P0DPE3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0DPE3-1", "url": "https://www.uniprot.org/uniprot/P0DPE3-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MAARTLASALVLTLWVWALAPAGAVDAMGPHAAVRLAELLTPEECGHFRSLLEAPEPDVEAELSRLSEDRLARPEPLNTTSGSPSRRRRREAAEDPAGRVAGPGEVSDGCREALAAWLAPQAASLSWDRLARALRRSGRPDVARELGKNLHQQATLQLRKFGQRFLPRPGAAARVPFAPAPRPRRAAVPAPDWDALQLIVERLPQPLYERSPMGWAGPLALGLLTGFVGALGTGALVVLLTLWITGGDGDRASPGSPGPLATVQGWWETKLLLPKERRAPPGAWAADGPDSPSPHSALALSCKMGAQSWGSGALDGL", "length": 317, "header": "sp|P0DPE3-1|TMDD1_HUMAN Isoform 1 of Transmembrane and death domain protein 1 OS=Homo sapiens OX=9606 GN=TMDD1 PE=3 SV=1 CANONICAL=P0DPE3-1" }, "isoforms": [ { "isoform_ac": "P0DPE3-1", "url": "", "sequence": { "sequence": "MAARTLASALVLTLWVWALAPAGAVDAMGPHAAVRLAELLTPEECGHFRSLLEAPEPDVEAELSRLSEDRLARPEPLNTTSGSPSRRRRREAAEDPAGRVAGPGEVSDGCREALAAWLAPQAASLSWDRLARALRRSGRPDVARELGKNLHQQATLQLRKFGQRFLPRPGAAARVPFAPAPRPRRAAVPAPDWDALQLIVERLPQPLYERSPMGWAGPLALGLLTGFVGALGTGALVVLLTLWITGGDGDRASPGSPGPLATVQGWWETKLLLPKERRAPPGAWAADGPDSPSPHSALALSCKMGAQSWGSGALDGL", "length": 317, "header": "sp|P0DPE3-1|TMDD1_HUMAN Isoform 1 of Transmembrane and death domain protein 1 OS=Homo sapiens OX=9606 GN=TMDD1 PE=3 SV=1 CANONICAL=P0DPE3-1" }, "locus": { "chromosome": "12", "start_pos": 51814893, "end_pos": 51813943, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642069.2", "url": "https://www.ensembl.org/id/ENST00000642069.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000493167.1", "url": "https://www.ensembl.org/id/ENSP00000493167.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 78, "start_aa": "Asn", "end_pos": 78, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn78", "evidence": [ { "id": "P0DPE3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPE3#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [], "pathway": [], "orthologs": [], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 1, "go_terms": [ { "name": "signal transduction", "id": "GO:0007165", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "database": "UniProtKB", "id": "P0DPE3", "url": "https://www.uniprot.org/uniprot/P0DPE3" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P0DPE3", "url": "https://www.uniprot.org/uniprot/P0DPE3" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 78, "end_pos": 80, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [], "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": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "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": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": 2 }, { "field": "total_sites", "count": 2 } ], "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": [] } ] }