{ "uniprot_canonical_ac": "Q6ZXV5-1", "uniprot_ac": "Q6ZXV5", "uniprot_id": "TMTC3_HUMAN", "mass": { "chemical_mass": 104009.0, "monoisotopic_mass": 104009.0 }, "refseq": { "ac": "NP_861448", "name": "protein O-mannosyl-transferase TMTC3 isoform 1", "summary": "This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" }, "gene_names": [ { "name": "TMTC3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q6ZXV5", "id": "Q6ZXV5" }, { "name": "LIS8; SMILE", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448", "id": "NP_861448" }, { "name": "TMTC3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448", "id": "NP_861448" } ], "protein_names": [ { "name": "Protein O-mannosyl-transferase TMTC3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q6ZXV5" }, { "name": "2.4.1.109", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6ZXV5" }, { "name": "Protein SMILE", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6ZXV5" }, { "name": "Transmembrane and TPR repeat-containing protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q6ZXV5" }, { "name": "protein O-mannosyl-transferase TMTC3 isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448", "id": "NP_861448" }, { "name": "transmembrane and TPR repeat-containing protein 3; protein O-mannosyl-transferase TMTC3; transmembrane and tetratricopeptide repeat containing 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448", "id": "NP_861448" } ], "function": [ { "annotation": "A Novel ER Stress Mediator TMTC3 Promotes Squamous Cell Carcinoma Progression by Activating GRP78/PERK Signaling Pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" }, { "database": "PubMed", "id": "35982901", "url": "https://glygen.org/publication/PubMed/35982901" } ] }, { "annotation": "Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" }, { "database": "PubMed", "id": "33436046", "url": "https://glygen.org/publication/PubMed/33436046" } ] }, { "annotation": "O-mannosylation pathway dedicated to cadherins/ protocadherins orchestrated by the four TMTC1-4 genes", "evidence": [ { "database": "RefSeq", "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" }, { "database": "PubMed", "id": "28973932", "url": "https://glygen.org/publication/PubMed/28973932" } ] }, { "annotation": "SMILE is a novel transgene specifying both bronchial smooth muscle and lung alveolar myofibroblast lineages, contributing to the understanding of the biological control of the development of these cells.", "evidence": [ { "database": "RefSeq", "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" }, { "database": "PubMed", "id": "21956870", "url": "https://glygen.org/publication/PubMed/21956870" } ] }, { "annotation": "That SMILE is involved in the endoplasmic reticulum stress response, by modulating proteasome activity and XBP-1 transcript expression. This function of SMILE may influence immune cell behavior in the context of transplantation.", "evidence": [ { "database": "RefSeq", "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" }, { "database": "PubMed", "id": "21603654", "url": "https://glygen.org/publication/PubMed/21603654" } ] }, { "annotation": "The deep infiltrating endometriosis tissue has lower T-cadherin, E-cadherin, progesterone receptor and oestrogen receptor than endometrioma tissue.", "evidence": [ { "database": "RefSeq", "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" }, { "database": "PubMed", "id": "34794738", "url": "https://glygen.org/publication/PubMed/34794738" } ] }, { "annotation": "This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" } ] }, { "annotation": "Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3 (PubMed:28973932). Involved in the positive regulation of proteasomal protein degradation in the endoplasmic reticulum (ER), and the control of ER stress response.", "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5#function" }, { "database": "PubMed", "id": "21603654", "url": "https://glygen.org/publication/PubMed/21603654" }, { "database": "PubMed", "id": "28973932", "url": "https://glygen.org/publication/PubMed/28973932" } ] } ], "disease": [ { "disease_id": "DOID:0112233", "recommended_name": { "id": "DOID:0112233", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112233", "name": "lissencephaly 8", "description": "A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32." }, "synonyms": [ { "id": "DOID:0112233", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0112233", "name": "LIS8", "description": "" }, { "id": "MONDO:0014992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014992", "name": "lissencephaly 8", "description": "Any lissencephaly (disease) in which the cause of the disease is a mutation in the TMTC3 gene." }, { "id": "MONDO:0014992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014992", "name": "LIS8", "description": "" }, { "id": "MONDO:0014992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014992", "name": "TMTC3 lissencephaly (disease)", "description": "" }, { "id": "MONDO:0014992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014992", "name": "lissencephaly (disease) caused by mutation in TMTC3", "description": "" }, { "id": "MONDO:0014992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014992", "name": "lissencephaly 8", "description": "" }, { "id": "MONDO:0014992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014992", "name": "lissencephaly 8; LIS8", "description": "" }, { "id": "MONDO:0014992", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014992", "name": "lissencephaly type 8", "description": "" }, { "id": "MIM:617255", "resource": "MIM", "url": "https://www.omim.org/entry/617255", "name": "Lissencephaly 8", "description": "Lissencephaly 8" } ], "evidence": [ { "id": "617255", "database": "MIM", "url": "https://www.omim.org/entry/617255" } ] } ], "snv": [ { "evidence": [ { "id": "rs778549152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778549152" }, { "id": "rs778549152", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778549152" }, { "id": "rs778549152", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778549152" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 117, "end_pos": 117, "sequence_org": "N", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->IKS).", "chr_id": "12", "chr_pos": "88153451", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs778549152", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778549152" }, { "id": "rs778549152", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778549152" }, { "id": "rs778549152", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778549152" }, { "id": "rs778549152", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778549152" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 117, "end_pos": 117, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->SKS).", "chr_id": "12", "chr_pos": "88153451", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1400283749", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1400283749" }, { "id": "rs1400283749", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1400283749" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 117, "end_pos": 117, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->YKS).", "chr_id": "12", "chr_pos": "88153450", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N117", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771899393", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771899393" }, { "id": "rs771899393", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771899393" }, { "id": "rs771899393", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771899393" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 119, "end_pos": 119, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NKS->NKG).", "chr_id": "12", "chr_pos": "88153456", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S119", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1336022110", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1336022110" }, { "id": "rs1336022110", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1336022110" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 225, "end_pos": 225, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KGS->NGS).", "chr_id": "12", "chr_pos": "88160729", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K225", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773230041", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773230041" }, { "id": "rs773230041", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773230041" }, { "id": "rs773230041", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773230041#frequency_tab" }, { "id": "rs773230041", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773230041" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 337, "end_pos": 337, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->I).", "chr_id": "12", "chr_pos": "88166542", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S337", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs900644499", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs900644499" }, { "id": "rs900644499", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs900644499" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 395, "end_pos": 395, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KIS->NIS).", "chr_id": "12", "chr_pos": "88172731", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K395", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "76.43", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000139324", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139324" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "85.95", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000139324", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139324" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "81.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000139324", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139324" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "80.58", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000139324", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139324" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "79.36", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000139324", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139324" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "81.98", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000139324", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139324" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "75.82", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000139324", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139324" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "83.21", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000139324", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139324" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "75.71", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000139324", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139324" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "76.49", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000139324", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139324" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q6ZXV5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6ZXV5" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q6ZXV5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6ZXV5" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q6ZXV5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q6ZXV5" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" } ], "common_name": "Human" } ], "gene": [ { "name": "TMTC3", "url": "https://www.uniprot.org/uniprot/Q6ZXV5", "locus": { "chromosome": "12", "start_pos": 88199887, "end_pos": 88142296, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000139324", "url": "https://www.ensembl.org/id/ENSG00000139324" } ] } } ], "crossref": [ { "id": "ENSG00000139324", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000139324", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "TMTC3", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=TMTC3", "database": "GeneCards", "categories": [ "Organism-specific", "Gene Annotation" ] }, { "id": "160418", "url": "https://www.ncbi.nlm.nih.gov/gene/160418", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "26899", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26899", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "Q6ZXV5", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q6ZXV5*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR011990", "url": "https://www.ebi.ac.uk/interpro/entry/IPR011990", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013618", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013618", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR019734", "url": "https://www.ebi.ac.uk/interpro/entry/IPR019734", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:160418", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:160418", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "617218", "url": "http://www.omim.org/entry/617218", "database": "MIM", "categories": [ "Other" ] }, { "id": "617255", "url": "http://www.omim.org/entry/617255", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_Q6ZXV5", "url": "https://www.nextprot.org/entry/NX_Q6ZXV5", "database": "neXtProt", "categories": [ "Organism-specific", "Protein" ] }, { "id": "Q6ZXV5", "url": "https://oglcnac.org/atlas/detail/Q6ZXV5", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "Q6ZXV5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZXV5", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "AKACFTR", "url": "https://omabrowser.org/oma/group/AKACFTR/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "155869at2759", "url": "http://www.orthodb.org/?query=155869at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR44395:SF1", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR44395:SF1", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF08409", "url": "http://pfam.xfam.org/family/PF08409", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13174", "url": "http://pfam.xfam.org/family/PF13174", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13181", "url": "http://pfam.xfam.org/family/PF13181", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13431", "url": "http://pfam.xfam.org/family/PF13431", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "Q6ZXV5", "url": "https://pharos.nih.gov/targets/Q6ZXV5", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000057512", "url": "https://proconsortium.org/app/entry/PR:000057512", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000057513", "url": "https://proconsortium.org/app/entry/PR:000057513", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_Q6ZXV5", "url": "http://purl.obolibrary.org/obo/PR_Q6ZXV5", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "17377", "url": "https://www.rhea-db.org/rhea/17377", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "53396", "url": "https://www.rhea-db.org/rhea/53396", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "Q6ZXV5", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "F8VR71", "url": "https://www.uniprot.org/uniprot/F8VR71", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VR71-1", "url": "https://www.uniprot.org/uniprot/F8VR71-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VRY4", "url": "https://www.uniprot.org/uniprot/F8VRY4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8VRY4-1", "url": "https://www.uniprot.org/uniprot/F8VRY4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W044", "url": "https://www.uniprot.org/uniprot/F8W044", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8W044-1", "url": "https://www.uniprot.org/uniprot/F8W044-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6ZXV5-1", "url": "https://www.uniprot.org/uniprot/Q6ZXV5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q6ZXV5-2", "url": "https://www.uniprot.org/uniprot/Q6ZXV5-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MANINLKEITLIVGVVTACYWNSLFCGFVFDDVSAILDNKDLHPSTPLKTLFQNDFWGTPMSEERSHKSYRPLTVLTFRLNYLLSELKPMSYHLLNMIFHAVVSVIFLKVCKLFLDNKSSVIASLLFAVHPIHTEAVTGVVGRAELLSSIFFLAAFLSYTRSKGPDNSIIWTPIALTVFLVAVATLCKEQGITVVGICCVYEVFIAQGYTLPLLCTTAGQFLRGKGSIPFSMLQTLVKLIVLMFSTLLLVVIRVQVIQSQLPVFTRFDNPAAVSPTPTRQLTFNYLLPVNAWLLLNPSELCCDWTMGTIPLIESLLDIRNLATFTFFCFLGMLGVFSIRYSGDSSKTVLMALCLMALPFIPASNLFFPVGFVVAERVLYVPSMGFCILVAHGWQKISTKSVFKKLSWICLSMVILTHSLKTFHRNWDWESEYTLFMSALKVNKNNAKLWNNVGHALENEKNFERALKYFLQATHVQPDDIGAHMNVGRTYKNLNRTKEAEESYMMAKSLMPQIIPGKKYAARIAPNHLNVYINLANLIRANESRLEEADQLYRQAISMRPDFKQAYISRGELLLKMNKPLKAKEAYLKALELDRNNADLWYNLAIVHIELKEPNEALKKNFNRALELNPKHKLALFNSAIVMQESGEVKLRPEARKRLLSYINEEPLDANGYFNLGMLAMDDKKDNEAEIWMKKAIKLQADFRSALFNLALLYSQTAKELKALPILEELLRYYPDHIKGLILKGDILMNQKKDILGAKKCFERILEMDPSNVQGKHNLCVVYFEEKDLLKAERCLLETLALAPHEEYIQRHLNIVRDKISSSSFIEPIFPTSKISSVEGKKIPTESVKEIRGESRQTQIVKTSDNKSQSKSNKQLGKNGDEETPHKTTKDIKEIEKKRVAALKRLEEIERILNGE", "length": 915, "header": "sp|Q6ZXV5-1|TMTC3_HUMAN Isoform 1 of Protein O-mannosyl-transferase TMTC3 OS=Homo sapiens OX=9606 GN=TMTC3 PE=1 SV=2 CANONICAL=Q6ZXV5-1" }, "isoforms": [ { "isoform_ac": "F8VR71-1", "url": "", "sequence": { "sequence": "MANINLKEITLIVGVVTACYWNSLFCGFVFDDVSAILDNKDLHPSTPLKTLFQNDFWGTPMSEVTGVVGRAELLSSIFFLAAFLSYTRSKGPDNSIIWTPIALTVFLVAVATLCKEQGITVVGICCVYEVFIAQGYTLPLLCTTA", "length": 145, "header": "tr|F8VR71-1|F8VR71_HUMAN Computationally mapped isoform of Transmembrane O-mannosyltransferase targeting cadherins 3 OS=Homo sapiens OX=9606 GN=TMTC3 PE=4 SV=8 CANONICAL=Q6ZXV5-1" }, "locus": { "chromosome": "12", "start_pos": 88160708, "end_pos": 88148316, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000551088.1", "url": "https://www.ensembl.org/id/ENST00000551088.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000448566.1", "url": "https://www.ensembl.org/id/ENSP00000448566.1" } ] } }, { "isoform_ac": "F8VRY4-1", "url": "", "sequence": { "sequence": "MANINLKEITLIVGVVTACYWNSLFCGFVFDDVSAILDNKDLHPSTPLKTLFQNDFWGTPMSEERSHKSYRPLTVLTFRLNYLLSELKPMSYHLLNMIFHAVVSVIFLKVCKLFLDNKSSVIASLLFAVHPIHTEAVTGVVGRAELLSSIFFLAAFLSYTRSKGPDNSIIWTPIALTVFLVAVATLCKEQGITVVGICCVYEVFIAQGYTLPLLCTTAGQFLRGKGSIPFSMLQTLVKLIVLMFSTLLLVVIRVQVIQSQLPVFTRFDNPAAVSPTPTRQLTFNYLLPVNAWLLLNPSELCCDWTMGTIPLIESLLDIRNLATFTFFCFLGMLGVFSIRYSGDSSKTVLMALCLMALPFIPASNLFFPVGFVVAERVLYVPSMGFCILVAHGWQKISTKSLRQNKL", "length": 406, "header": "tr|F8VRY4-1|F8VRY4_HUMAN Computationally mapped isoform of Transmembrane O-mannosyltransferase targeting cadherins 3 OS=Homo sapiens OX=9606 GN=TMTC3 PE=1 SV=1 CANONICAL=Q6ZXV5-1" }, "locus": { "chromosome": "12", "start_pos": 88172984, "end_pos": 88148316, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000547034.5", "url": "https://www.ensembl.org/id/ENST00000547034.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000448733.1", "url": "https://www.ensembl.org/id/ENSP00000448733.1" } ] } }, { "isoform_ac": "F8W044-1", "url": "", "sequence": { "sequence": "MANINLKEITLIVGVVTACYWNSLFCGFVFDDVSAILDNKDLHPSTPLKTLFQNDFWGTPMSEERSHKSYRPLTVLTFRLNYLLSELKPMSYHLLNMIFHAVVSVIFLKVCKLFLDNKSSVIASLLFAVHPIHTEAVTGVVGRAELLS", "length": 148, "header": "tr|F8W044-1|F8W044_HUMAN Computationally mapped isoform of Transmembrane O-mannosyltransferase targeting cadherins 3 OS=Homo sapiens OX=9606 GN=TMTC3 PE=1 SV=1 CANONICAL=Q6ZXV5-1" }, "locus": { "chromosome": "12", "start_pos": 88154323, "end_pos": 88148316, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000549011.5", "url": "https://www.ensembl.org/id/ENST00000549011.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000447640.1", "url": "https://www.ensembl.org/id/ENSP00000447640.1" } ] } }, { "isoform_ac": "Q6ZXV5-1", "url": "", "sequence": { "sequence": "MANINLKEITLIVGVVTACYWNSLFCGFVFDDVSAILDNKDLHPSTPLKTLFQNDFWGTPMSEERSHKSYRPLTVLTFRLNYLLSELKPMSYHLLNMIFHAVVSVIFLKVCKLFLDNKSSVIASLLFAVHPIHTEAVTGVVGRAELLSSIFFLAAFLSYTRSKGPDNSIIWTPIALTVFLVAVATLCKEQGITVVGICCVYEVFIAQGYTLPLLCTTAGQFLRGKGSIPFSMLQTLVKLIVLMFSTLLLVVIRVQVIQSQLPVFTRFDNPAAVSPTPTRQLTFNYLLPVNAWLLLNPSELCCDWTMGTIPLIESLLDIRNLATFTFFCFLGMLGVFSIRYSGDSSKTVLMALCLMALPFIPASNLFFPVGFVVAERVLYVPSMGFCILVAHGWQKISTKSVFKKLSWICLSMVILTHSLKTFHRNWDWESEYTLFMSALKVNKNNAKLWNNVGHALENEKNFERALKYFLQATHVQPDDIGAHMNVGRTYKNLNRTKEAEESYMMAKSLMPQIIPGKKYAARIAPNHLNVYINLANLIRANESRLEEADQLYRQAISMRPDFKQAYISRGELLLKMNKPLKAKEAYLKALELDRNNADLWYNLAIVHIELKEPNEALKKNFNRALELNPKHKLALFNSAIVMQESGEVKLRPEARKRLLSYINEEPLDANGYFNLGMLAMDDKKDNEAEIWMKKAIKLQADFRSALFNLALLYSQTAKELKALPILEELLRYYPDHIKGLILKGDILMNQKKDILGAKKCFERILEMDPSNVQGKHNLCVVYFEEKDLLKAERCLLETLALAPHEEYIQRHLNIVRDKISSSSFIEPIFPTSKISSVEGKKIPTESVKEIRGESRQTQIVKTSDNKSQSKSNKQLGKNGDEETPHKTTKDIKEIEKKRVAALKRLEEIERILNGE", "length": 915, "header": "sp|Q6ZXV5-1|TMTC3_HUMAN Isoform 1 of Protein O-mannosyl-transferase TMTC3 OS=Homo sapiens OX=9606 GN=TMTC3 PE=1 SV=2 CANONICAL=Q6ZXV5-1" }, "locus": {} }, { "isoform_ac": "Q6ZXV5-2", "url": "", "sequence": { "sequence": "MANINLKEITLIVGVVTACYWNSLFCGFVFDDVSAILDNKDLHPSTPLKTLFQNDFWGTPMSEERSHKSYRPLTVLTFRLNYLLSELKPMSYHLLNMIFHAVVSVIFLKVCKLFLDNKSSVIASLLFAVHPIHTEAVTGVVGRAELLSSIFFLAAFLSYTRSKGPDNSIIWTPIALTVFLVAVATLCKEQGITVVGICCVYEVFIAQGYTLPLLCTTAGQFLRGKGSIPFSMLQTLVKLIVLMFSTLLLVVIRVQVIQSQLPVFTRFDNPAAVSPTPTRQLTFNYLLPVNAWLLLNPSELCCDWTMGTIPLIESLLDIRNLATFTFFCFLGMLGVFSIRYSGDSSKTVLMALCLMALPFIPASNLFFPVGFVVAERVLYVPSMGFCILVAHGWQKISTKSVFKKLSWICLSMVILTHSLKTFHRNWDWESEYTLFMSALKVNKNNAKLWNNVGHALENEKNFERALKYFLQATHVQPDDIGAHMNVGRTYKNLNRTKEAEESYMMAKSLMPQIIPGKKYAARIAPNHLNVYINLANLIRANESRLEEADQLYRQAISMRPDFKQAYISRGELLLKMNKPLKAKEAYLKALELDRNNADLWYNLAIVHIELKEPNEALKNFNRALELNPKHKLALFNSAIVMQESGEVKLRPEARKRLLSYINEEPLDANGYFNLGMLAMDDKKDNEAEIWMKKAIKLQADFRSALFNLALLYSQTAKELKALPILEELLRYYPDHIKGLILKGDILMNQKKDILGAKKCFERILEMDPSNVQGKHNLCVVYFEEKDLLKAERCLLETLALAPHEEYIQRHLNIVRDKISSSSFIEPIFPTSKISSVEGKKIPTESVKEIRGESRQTQIVKTSDNKSQSKSNKQLGKNGDEETPHKTTKDIKEIEKKRVAALKRLEEIERILNGE", "length": 914, "header": "sp|Q6ZXV5-2|TMTC3_HUMAN Isoform 2 of Protein O-mannosyl-transferase TMTC3 OS=Homo sapiens OX=9606 GN=TMTC3 PE=1 SV=2 CANONICAL=Q6ZXV5-1" }, "locus": { "chromosome": "12", "start_pos": 88195646, "end_pos": 88148316, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000266712.11", "url": "https://www.ensembl.org/id/ENST00000266712.11" }, { "database": "Ensembl Peptide", "id": "ENSP00000266712.6", "url": "https://www.ensembl.org/id/ENSP00000266712.6" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 117, "start_aa": "Asn", "end_pos": 117, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn117", "evidence": [ { "id": "Q6ZXV5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZXV5#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 337, "start_aa": "Ser", "end_pos": 337, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser337", "evidence": [ { "id": "Q6ZXV5", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZXV5" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "29351928", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29351928" }, { "id": "Q6ZXV5", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q6ZXV5" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 494, "start_aa": "Asn", "end_pos": 494, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn494", "evidence": [ { "id": "Q6ZXV5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZXV5#ptm_processing" } ] }, { "glytoucan_ac": "G02815KT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 541, "start_aa": "Asn", "end_pos": 541, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn541", "evidence": [ { "id": "Q6ZXV5@N541", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/Q6ZXV5@N541" } ] }, { "glytoucan_ac": "G41247ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 541, "start_aa": "Asn", "end_pos": 541, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn541", "evidence": [ { "id": "Q6ZXV5@N541", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/Q6ZXV5@N541" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 541, "start_aa": "Asn", "end_pos": 541, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn541", "evidence": [ { "id": "Q6ZXV5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZXV5#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "ISSSSFIEPIFPTSK", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 819, "start_aa": "Ile", "end_pos": 833, "end_aa": "Lys", "evidence": [ { "id": "Q6ZXV5", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "KIPTESVKEIR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 841, "start_aa": "Lys", "end_pos": 851, "end_aa": "Arg", "evidence": [ { "id": "Q6ZXV5", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 844, "start_aa": "Thr", "end_pos": 844, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr844", "evidence": [ { "id": "Q6ZXV5", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G25987BV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 865, "start_aa": "Asn", "end_pos": 865, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn865", "evidence": [ { "id": "Q6ZXV5", "database": "UniCarbKB", "url": "" }, { "id": "26791533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26791533" } ] }, { "glytoucan_ac": "G61855PQ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 865, "start_aa": "Asn", "end_pos": 865, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn865", "evidence": [ { "id": "Q6ZXV5", "database": "UniCarbKB", "url": "" }, { "id": "26791533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/26791533" } ] } ], "phosphorylation": [ { "start_pos": 503, "end_pos": 503, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "Phosphotyrosine", "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q6ZXV5", "url": "http://phospho.elm.eu.org/byAccession/Q6ZXV5.html" }, { "database": "iPTMnet", "id": "Q6ZXV5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZXV5" } ], "site_lbl": "Tyr503" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported_with_glycan", "glycoprotein_reported", "glycoprotein_predicted" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen .H", "evidence": [ { "database": "UniCarbKB", "id": "Q6ZXV5", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" }, { "database": "iPTMnet", "id": "Q6ZXV5", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q6ZXV5" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "The involvement of SMILE/TMTC3 in endoplasmic reticulum stress response.", "journal": "PLoS ONE", "date": "2011", "authors": "Racape M, Duong Van Huyen JP, Danger R, Giral M, Bleicher F, Foucher Y, Pallier A, Pilet P, Tafelmeyer P, Ashton-Chess J, Dugast E, Pettre S, Charreau B, Soulillou JP, Brouard S", "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" }, { "database": "RefSeq", "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" } ], "reference": [ { "type": "PubMed", "id": "21603654", "url": "https://glygen.org/publication/PubMed/21603654" } ] }, { "title": "mSmile is necessary for bronchial smooth muscle and alveolar myofibroblast development.", "journal": "Anatomical record (Hoboken, N.J. : 2007)", "date": "2012", "authors": "Yun EJ, Vu TH", "evidence": [ { "database": "RefSeq", "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" } ], "reference": [ { "type": "PubMed", "id": "21956870", "url": "https://glygen.org/publication/PubMed/21956870" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "Q6ZXV5", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "N-Glycoproteomics of Human Seminal Plasma Glycoproteins.", "journal": "Journal of proteome research", "date": "2016", "authors": "Saraswat M, Joenvaara S, Tomar AK, Singh S, Yadav S, Renkonen R", "evidence": [ { "database": "UniCarbKB", "id": "Q6ZXV5", "url": "" } ], "reference": [ { "type": "PubMed", "id": "26791533", "url": "https://glygen.org/publication/PubMed/26791533" } ] }, { "title": "Biallelic mutations in TMTC3, encoding a transmembrane and TPR-containing protein, lead to cobblestone lissencephaly.", "journal": "Am. J. Hum. Genet.", "date": "2016", "authors": "Jerber J, Zaki MS, Al-Aama JY, Rosti RO, Ben-Omran T, Dikoglu E, Silhavy JL, Caglar C, Musaev D, Albrecht B, Campbell KP, Willer T, Almuriekhi M, Caglayan AO, Vajsar J, Bilguvar K, Ogur G, Abou Jamra R, Gunel M, Gleeson JG", "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" } ], "reference": [ { "type": "PubMed", "id": "27773428", "url": "https://glygen.org/publication/PubMed/27773428" } ] }, { "title": "Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2017", "authors": "Larsen ISB, Narimatsu Y, Joshi HJ, Siukstaite L, Harrison OJ, Brasch J, Goodman KM, Hansen L, Shapiro L, Honig B, Vakhrushev SY, Clausen H, Halim A", "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" }, { "database": "RefSeq", "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" } ], "reference": [ { "type": "PubMed", "id": "28973932", "url": "https://glygen.org/publication/PubMed/28973932" } ] }, { "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "date": "2018", "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZXV5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZXV5" }, { "database": "O-GlcNAc Atlas", "id": "Q6ZXV5", "url": "https://oglcnac.org/atlas/detail/Q6ZXV5" } ], "reference": [ { "type": "PubMed", "id": "29351928", "url": "https://glygen.org/publication/PubMed/29351928" } ] }, { "title": "Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites.", "journal": "Biology direct", "date": "2021", "authors": "Eisenhaber B, Sinha S, Jadalanki CK, Shitov VA, Tan QW, Sirota FL, Eisenhaber F", "evidence": [ { "database": "RefSeq", "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" } ], "reference": [ { "type": "PubMed", "id": "33436046", "url": "https://glygen.org/publication/PubMed/33436046" } ] }, { "title": "Truncation of the TPR domain of OGT alters substrate and glycosite selection.", "journal": "Analytical and bioanalytical chemistry", "date": "2021", "authors": "Ramirez DH, Yang B, D'Souza AK, Shen D, Woo CM", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q6ZXV5", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q6ZXV5" } ], "reference": [ { "type": "PubMed", "id": "34725712", "url": "https://glygen.org/publication/PubMed/34725712" } ] }, { "title": "The deep infiltrating endometriosis tissue has lower T-cadherin, E-cadherin, progesterone receptor and oestrogen receptor than endometrioma tissue.", "journal": "Taiwanese journal of obstetrics & gynecology", "date": "2021", "authors": "Biyik I, Kalkan U, Simsek S", "evidence": [ { "database": "RefSeq", "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" } ], "reference": [ { "type": "PubMed", "id": "34794738", "url": "https://glygen.org/publication/PubMed/34794738" } ] }, { "title": "A Novel ER Stress Mediator TMTC3 Promotes Squamous Cell Carcinoma Progression by Activating GRP78/PERK Signaling Pathway.", "journal": "International journal of biological sciences", "date": "2022", "authors": "Yuan H, Zhao Z, Guo Z, Ma L, Han J, Song Y", "evidence": [ { "database": "RefSeq", "id": "NP_861448", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_861448" } ], "reference": [ { "type": "PubMed", "id": "35982901", "url": "https://glygen.org/publication/PubMed/35982901" } ] } ], "pathway": [ { "id": "hsa:160418", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:160418", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8BRH0-1", "protein_name": "Protein O-mannosyl-transferase TMTC3", "gene_name": "Tmtc3", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MLEGKMADINFKEVTLIVSVVAACYWNSLFCGFVFDDVSAILDNKDLHPSTPLKTLFQNDFWGTPMSEERSHKSYRPLTVLTFRLNYLLSELKPMSYHLLNTVFHAVVSVIFLKVCRLFLDKRSSMIAALLFAVHPIHTEAVTGVVGRAELLSSVFFLAAFLSYTKSKGPDNSIVWTPIVLTVFLVAVATLCKEQGITVVGICCVYEVFVAQGYTLPMLCTVAGQFLRGKGSIPLSMLQTLVKLIVLMLSTLLLVVVRVQVIQSQLPVFTRFDNPAAVSPTPTRQLTFNYLLPVNAWLLLNPSELCCDWTMGTIPLIESFLDVRNLATFAFFCFLGALGIFSLRYPGDSSKTVLMALCLMALPFIPASNLFFPVGFVVAERVLYVPSMGFCILVAHGWQKISNKSVLKKLSWVCLSMVILTHALKTLHRNWDWESEYTLFMSALKVNKNNAKLWNNVGHALENEKNFEKALKYFLQATHVQPDDIGAHMNVGRTYKNLNRSREAEASYMLAKSLMPQIIPGKKYAARIAPNHLNVYINLANLIRANESRLEEADQLYRQAISMRPDFKQAYISRGELLLKMNKPLKAKEAYLKALELDRNNADLWYNLAIVYIELKEPNEALKNFNRALELNPKHKLALFNSAILMQESGEVKLRPEARKRLLNYVNEEPQDANGYFNLGMLAMDDKKDSEAESWMKKAIKLQPDFRSALFNLALLYSQTAKELKALPILEELLKYYPDHTKGLILKGDILMNQKKDIPGAKKCFEKILEMDPSNVQGKHNLCVVYFEEKELLKAERCLVETLALAPHEEYIQRHLSIVRDRISSSGIVEQPLAPADKTPGTEEREEIPSEDVKEISSESRPPQILKTNNNRNSKSNKQSTENADQDAPHKTTKDIKEIEKKRVAALKRLEEIERILNGE", "length": 920 }, "evidence": [ { "id": "45228697", "url": "http://www.informatics.jax.org/homology/45228697", "database": "MGI" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 2, "go_terms": [ { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 2, "go_terms": [ { "name": "dolichyl-phosphate-mannose-protein mannosyltransferase activity", "id": "GO:0004169", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004169", "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" } ], "pmid": "" }, { "name": "mannosyltransferase activity", "id": "GO:0000030", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000030", "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 3, "go_terms": [ { "name": "response to endoplasmic reticulum stress", "id": "GO:0034976", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034976", "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" } ], "pmid": "" }, { "name": "protein O-linked mannosylation", "id": "GO:0035269", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035269", "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" } ], "pmid": "" }, { "name": "positive regulation of proteasomal protein catabolic process", "id": "GO:1901800", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1901800", "evidence": [ { "database": "UniProtKB", "id": "Q6ZXV5", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "protein O-mannosyl-transferase TMTC3 N-glycosylated 1 (human)", "definition": "A protein O-mannosyl-transferase TMTC3 (human) that has been N-glycosylated at the residue equivalent to Asn-865 of the amino acid sequence represented by UniProtKB:Q6ZXV5-1, in which the glycan composition is represented by GlyTouCan:G25987BV. Example: UniProtKB:Q6ZXV5-1, Asn-865, MOD:00160~GNO:G25987BV. [PRO:DNx, PMID:26791533]", "evidence": [ { "id": "PR:000057512", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000057512" } ] }, { "name": "protein O-mannosyl-transferase TMTC3 N-glycosylated 2 (human)", "definition": "A protein O-mannosyl-transferase TMTC3 (human) that has been N-glycosylated at the residue equivalent to Asn-865 of the amino acid sequence represented by UniProtKB:Q6ZXV5-1, in which the glycan composition is represented by GlyTouCan:G61855PQ. Example: UniProtKB:Q6ZXV5-1, Asn-865, MOD:00160~GNO:G61855PQ. [PRO:DNx, PMID:26791533]", "evidence": [ { "id": "PR:000057513", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000057513" } ] } ], "site_annotation": [ { "start_pos": 117, "end_pos": 119, "annotation": "n_glycosylation_sequon" }, { "start_pos": 494, "end_pos": 496, "annotation": "n_glycosylation_sequon" }, { "start_pos": 541, "end_pos": 543, "annotation": "n_glycosylation_sequon" }, { "start_pos": 865, "end_pos": 867, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "17377", "name": "", "equation": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q99PR0-1", "Q14U74-1", "Q9UKY4-1", "Q9Y6A1-1", "Q5T4D3-1", "Q8IUR5-5", "Q8N394-1", "Q6ZXV5-1", "Q9NX78-1", "Q8R2R1-1", "Q8BGQ4-1", "Q8BG19-1", "Q8BRH0-1", "Q56A06-1", "Q3UV71-1", "Q8BMD6-1", "P31382-1", "P46971-1", "P33775-1", "P47190-1", "P52867-1", "P42934-1", "Q06644-1", "Q8MXQ3-1", "Q9W5D4-1", "Q7K4B6-1", "Q9V3X5-1", "Q9VF81-1", "Q9VQE9-1", "Q9VTK2-1" ], "evidence": [ { "id": "17377", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/17377" } ] }, { "id": "53396", "name": "", "equation": "a dolichyl beta-D-mannosyl phosphate + L-threonyl-[protein] = 3-O-(alpha-D-mannosyl)-L-threonyl-[protein] + a dolichyl phosphate + H(+)", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q99PR0-1", "Q14U74-1", "Q9UKY4-1", "Q9Y6A1-1", "Q5T4D3-1", "Q8IUR5-5", "Q8N394-1", "Q6ZXV5-1", "Q9NX78-1", "Q8R2R1-1", "Q8BGQ4-1", "Q8BG19-1", "Q8BRH0-1", "Q56A06-1", "Q3UV71-1", "Q8BMD6-1", "P31382-1", "P46971-1", "P33775-1", "P47190-1", "P52867-1", "P42934-1", "Q06644-1", "Q8MXQ3-1", "Q9W5D4-1", "Q7K4B6-1", "Q9V3X5-1", "Q9VF81-1", "Q9VQE9-1", "Q9VTK2-1" ], "evidence": [ { "id": "53396", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/53396" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "P31382", "gene_name": "PMT2", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "P31382", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P31382" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "P31382", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P31382" } ] } ] }, { "uniprot_ac": "P33775", "gene_name": "PMT1", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "P33775", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33775" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "P33775", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P33775" } ] } ] }, { "uniprot_ac": "P42934", "gene_name": "PMT6", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "P42934", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42934" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "P42934", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42934" } ] } ] }, { "uniprot_ac": "P46971", "gene_name": "PMT4", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "P46971", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46971" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "P46971", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P46971" } ] } ] }, { "uniprot_ac": "P47190", "gene_name": "PMT3", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "P47190", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47190" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "P47190", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P47190" } ] } ] }, { "uniprot_ac": "P52867", "gene_name": "PMT5", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "P52867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52867" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "P52867", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P52867" } ] } ] }, { "uniprot_ac": "Q06644", "gene_name": "PMT7", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q06644", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q06644" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q06644", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q06644" } ] } ] }, { "uniprot_ac": "Q14U74", "gene_name": "Pomt2", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q14U74", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14U74" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q14U74", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q14U74" } ] } ] }, { "uniprot_ac": "Q3UV71", "gene_name": "Tmtc1", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q3UV71", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3UV71" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q3UV71", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q3UV71" } ] } ] }, { "uniprot_ac": "Q56A06", "gene_name": "Tmtc2", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q56A06", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q56A06" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q56A06", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q56A06" } ] } ] }, { "uniprot_ac": "Q5T4D3", "gene_name": "TMTC4", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q5T4D3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T4D3" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q5T4D3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q5T4D3" } ] } ] }, { "uniprot_ac": "Q6ZXV5", "gene_name": "TMTC3", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q6ZXV5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q6ZXV5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q6ZXV5" } ] } ] }, { "uniprot_ac": "Q7K4B6", "gene_name": "Tmtc3", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q7K4B6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7K4B6" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q7K4B6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7K4B6" } ] } ] }, { "uniprot_ac": "Q8BG19", "gene_name": "Tmtc4", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl 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3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q8BMD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BMD6" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q8BMD6", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BMD6" } ] } ] }, { "uniprot_ac": "Q8BRH0", "gene_name": "Tmtc3", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q8BRH0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BRH0" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q8BRH0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8BRH0" } ] } ] }, { "uniprot_ac": "Q8IUR5", "gene_name": "TMTC1", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q8IUR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IUR5" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q8IUR5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8IUR5" } ] } ] }, { "uniprot_ac": "Q8MXQ3", "gene_name": "", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q8MXQ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8MXQ3" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q8MXQ3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8MXQ3" } ] } ] }, { "uniprot_ac": "Q8N394", "gene_name": "TMTC2", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q8N394", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N394" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q8N394", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8N394" } ] } ] }, { "uniprot_ac": "Q8R2R1", "gene_name": "Pomt1", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q8R2R1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R2R1" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q8R2R1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R2R1" } ] } ] }, { "uniprot_ac": "Q99PR0", "gene_name": "Pomt1", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q99PR0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99PR0" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q99PR0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q99PR0" } ] } ] }, { "uniprot_ac": "Q9NX78", "gene_name": "TMEM260", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q9NX78", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NX78" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q9NX78", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9NX78" } ] } ] }, { "uniprot_ac": "Q9UKY4", "gene_name": "POMT2", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q9UKY4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKY4" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q9UKY4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UKY4" } ] } ] }, { "uniprot_ac": "Q9V3X5", "gene_name": "", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q9V3X5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3X5" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q9V3X5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9V3X5" } ] } ] }, { "uniprot_ac": "Q9VF81", "gene_name": "", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q9VF81", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VF81" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q9VF81", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VF81" } ] } ] }, { "uniprot_ac": "Q9VQE9", "gene_name": "", "activity": [ { "ec_number": "2.4.1.109", "activity": "a dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a dolichyl phosphate + H(+).", "evidence": [ { "id": "Q9VQE9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VQE9" } ] }, { "ec_number": "2.4.1.109", "activity": "", "evidence": [ { "id": "Q9VQE9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VQE9" } ] } ] }, { "uniprot_ac": "Q9VTK2", "gene_name": "rt", "activity": [ { 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