{ "uniprot_canonical_ac": "P04217-1", "uniprot_ac": "P04217", "uniprot_id": "A1BG_HUMAN", "mass": { "chemical_mass": 54254.0, "monoisotopic_mass": 54254.0 }, "refseq": { "ac": "NP_570602", "name": "alpha-1B-glycoprotein precursor", "summary": "The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570602" }, "gene_names": [ { "name": "A1BG", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04217", "id": "P04217" }, { "name": "A1B; ABG; GAB; HYST2477", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570602", "id": "NP_570602" }, { "name": "A1BG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570602", "id": "NP_570602" } ], "protein_names": [ { "name": "Alpha-1B-glycoprotein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04217" }, { "name": "Alpha-1-B glycoprotein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04217" }, { "name": "HEL-S-163pA; epididymis secretory sperm binding protein Li 163pA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570602", "id": "NP_570602" }, { "name": "alpha-1B-glycoprotein precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570602", "id": "NP_570602" } ], "function": [ { "annotation": "Cardiovascular outcomes may differ based on A1BG genotype, and antihypertensive treatment strategy.", "evidence": [ { "database": "RefSeq", "id": "NP_570602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570602" }, { "database": "PubMed", "id": "23690342", "url": "https://glygen.org/publication/PubMed/23690342" } ] }, { "annotation": "Data indicate that five important proteins, vimentin, gelsolin, alpha 2 HS glycoprotein (AHSG), glial fibrillary acidic protein (GFAP), and alpha1B-glycoprotein (A1BG) were expressed higher in Rheumatoid arthritis (RA) synovial fluid than non-RA samples.", "evidence": [ { "database": "RefSeq", "id": "NP_570602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570602" }, { "database": "PubMed", "id": "23418544", "url": "https://glygen.org/publication/PubMed/23418544" } ] }, { "annotation": "Overexpression of serum A1BG is associated with non-small cell lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_570602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570602" }, { "database": "PubMed", "id": "23284758", "url": "https://glygen.org/publication/PubMed/23284758" } ] }, { "annotation": "The protein encoded by this gene is a plasma glycoprotein of unknown function. The protein shows sequence similarity to the variable regions of some immunoglobulin supergene family member proteins. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_570602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570602" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs935372069", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs935372069" }, { "id": "rs935372069", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs935372069#frequency_tab" }, { "id": "rs935372069", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs935372069" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 227, "end_pos": 227, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KVT->NVT).", "chr_id": "19", "chr_pos": "58351620", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K227", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs770134003", "database": 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"n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 256, "end_pos": 256, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "19", "chr_pos": "58351534", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S256", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1253053425", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253053425" }, { "id": "rs1253053425", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1253053425" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 25, "end_pos": 25, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YET->NET).", "chr_id": "19", "chr_pos": "58353195", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y25", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs768385007", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768385007" }, { "id": "rs768385007", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs768385007" }, { "id": "rs768385007", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs768385007" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 303, "end_pos": 303, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DET->NET).", "chr_id": "19", "chr_pos": "58351394", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D303", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1398262449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1398262449" }, { "id": "rs1398262449", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1398262449#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 312, "end_pos": 312, "sequence_org": "S", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->A).", "chr_id": "19", "chr_pos": "58350628", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S312", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1341746651", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1341746651" }, { "id": "rs1341746651", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1341746651#frequency_tab" }, { "id": "rs1341746651", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1341746651" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 312, "end_pos": 312, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->F).", "chr_id": "19", "chr_pos": "58350627", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S312", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1161255288", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1161255288" }, { "id": "rs1161255288", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1161255288" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 363, "end_pos": 363, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->TIS).", "chr_id": "19", "chr_pos": "58350474", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N363", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773884016", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773884016" }, { "id": "rs773884016", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773884016" }, { "id": "rs773884016", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773884016" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 371, "end_pos": 371, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NYS->KYS).", "chr_id": "19", "chr_pos": "58350449", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N371", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs773719039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773719039" }, { "id": "rs773719039", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs773719039" }, { "id": "rs773719039", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs773719039#frequency_tab" }, { "id": "rs773719039", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs773719039" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 429, "end_pos": 429, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVT->NVT).", "chr_id": "19", "chr_pos": "58347548", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D429", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1202293049", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1202293049" }, { "id": "rs1202293049", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1202293049" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 44, "end_pos": 44, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->DVT).", "chr_id": "19", "chr_pos": "58353138", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N44", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs201279119", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201279119" }, { "id": "rs201279119", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201279119" }, { "id": "rs201279119", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201279119" }, { "id": "rs201279119", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs201279119" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 46, "end_pos": 46, "sequence_org": "T", "sequence_mut": "M", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NVT->NVM).", "chr_id": "19", "chr_pos": "58353131", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "0.0002", "site_lbl": "T46", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs771377885", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771377885" }, { "id": "rs771377885", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771377885" }, { "id": "rs771377885", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs771377885" }, { "id": "rs771377885", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs771377885" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 74, "end_pos": 74, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->L).", "chr_id": "19", "chr_pos": "58353047", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S74", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1242614849", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1242614849" }, { "id": "rs1242614849", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1242614849#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 74, "end_pos": 74, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "19", "chr_pos": "58353048", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S74", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121410", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121410" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "68.13", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121410", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121410" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "78.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121410", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121410" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "67.18", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000121410", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121410" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "78.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121410", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121410" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "83.42", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121410", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121410" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.67", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121410", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121410" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "85.93", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000121410", "url": 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"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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "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": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P04217", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04217" } ], "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": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P04217", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04217" } ], "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 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"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": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": 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"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": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "common_name": "Human" } ], "gene": [ { "name": "A1BG", "url": "https://www.uniprot.org/uniprot/P04217", "locus": { "chromosome": "19", "start_pos": 58345178, "end_pos": 58353492, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000121410", "url": "https://www.ensembl.org/id/ENSG00000121410" } ] } } ], "crossref": [ { "id": "ENSG00000121410", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000121410", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd05751", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05751", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd16843", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd16843", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "A1BG", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=A1BG", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "1", "url": "https://www.ncbi.nlm.nih.gov/gene/1", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "780", "url": "https://glyconnect.expasy.org/browser/proteins/780", "database": "GlyConnect", "categories": [ "Glycoproteomics", "Glycan" ] }, { "id": "5", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=5", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P04217", "url": "https://www.ebi.ac.uk/intact/interactors/id:P04217*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR003598", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003598", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016332", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016332", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:1", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "138670", "url": "http://www.omim.org/entry/138670", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P04217", "url": "https://www.nextprot.org/entry/NX_P04217", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P04217", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04217", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WGLPMGP", "url": "https://omabrowser.org/oma/group/WGLPMGP/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "4636097at2759", "url": "http://www.orthodb.org/?query=4636097at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11738", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11738", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11738:SF163", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11738:SF163", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF13895", "url": "http://pfam.xfam.org/family/PF13895", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P04217", "url": "https://pharos.nih.gov/targets/P04217", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:000053329", "url": "https://proconsortium.org/app/entry/PR:000053329", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053330", "url": "https://proconsortium.org/app/entry/PR:000053330", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053331", "url": "https://proconsortium.org/app/entry/PR:000053331", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053332", "url": "https://proconsortium.org/app/entry/PR:000053332", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053333", "url": "https://proconsortium.org/app/entry/PR:000053333", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053334", "url": "https://proconsortium.org/app/entry/PR:000053334", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053335", "url": "https://proconsortium.org/app/entry/PR:000053335", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR:000053336", "url": "https://proconsortium.org/app/entry/PR:000053336", "database": "PRO", "categories": [ "Glycoproteomics" ] }, { "id": "PR_P04217", "url": "http://purl.obolibrary.org/obo/PR_P04217", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_570602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570602", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "P04217", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "M0R009", "url": "https://www.uniprot.org/uniprot/M0R009", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "M0R009-1", "url": "https://www.uniprot.org/uniprot/M0R009-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04217-1", "url": "https://www.uniprot.org/uniprot/P04217-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P04217-2", "url": "https://www.uniprot.org/uniprot/P04217-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MSMLVVFLLLWGVTWGPVTEAAIFYETQPSLWAESESLLKPLANVTLTCQAHLETPDFQLFKNGVAQEPVHLDSPAIKHQFLLTGDTQGRYRCRSGLSTGWTQLSKLLELTGPKSLPAPWLSMAPVSWITPGLKTTAVCRGVLRGVTFLLRREGDHEFLEVPEAQEDVEATFPVHQPGNYSCSYRTDGEGALSEPSATVTIEELAAPPPPVLMHHGESSQVLHPGNKVTLTCVAPLSGVDFQLRRGEKELLVPRSSTSPDRIFFHLNAVALGDGGHYTCRYRLHDNQNGWSGDSAPVELILSDETLPAPEFSPEPESGRALRLRCLAPLEGARFALVREDRGGRRVHRFQSPAGTEALFELHNISVADSANYSCVYVDLKPPFGGSAPSERLELHVDGPPPRPQLRATWSGAVLAGRDAVLRCEGPIPDVTFELLREGETKAVKTVRTPGAAANLELIFVGPQHAGNYRCRYRSWVPHTFESELSDPVELLVAES", "length": 495, "header": "sp|P04217-1|A1BG_HUMAN Isoform 1 of Alpha-1B-glycoprotein OS=Homo sapiens OX=9606 GN=A1BG PE=1 SV=4 CANONICAL=P04217-1" }, "isoforms": [ { "isoform_ac": "M0R009-1", "url": "", "sequence": { "sequence": "LTCQAHLETPDFQLFKNGVAQEPVHLDSPAIKHQFLLTGDTQGRYRCRSGLSTGWTQLSKLLELTGPKSLPAPWLSMAPVSWITPGLKTTAVCRGVLRGVTFLLRREGDHEFLEVPEAQEDVEATFPVHQPGNYSCSYRTDGEGALSEPSATVTIEELGPGPGSWPHGCLGLMVAKEFGQRMPKEWKAAPPPPVLMHHGESSQVLHPGNKVTLTCVAPLSGVDFQLRRGEKELLVPRSSTSPDRIFFHLNAVALGDGGHYTCRYRLHDNQNGWSGDSAPVELILSDETLPAPEFSPEPESGRALR", "length": 305, "header": "tr|M0R009-1|M0R009_HUMAN Computationally mapped isoform of Alpha-1-B glycoprotein OS=Homo sapiens OX=9606 GN=A1BG PE=1 SV=8 CANONICAL=P04217-1" }, "locus": { "chromosome": "19", "start_pos": 58353129, "end_pos": 58350596, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000600966.1", "url": "https://www.ensembl.org/id/ENST00000600966.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000470909.1", "url": "https://www.ensembl.org/id/ENSP00000470909.1" } ] } }, { "isoform_ac": "P04217-1", "url": "", "sequence": { "sequence": "MSMLVVFLLLWGVTWGPVTEAAIFYETQPSLWAESESLLKPLANVTLTCQAHLETPDFQLFKNGVAQEPVHLDSPAIKHQFLLTGDTQGRYRCRSGLSTGWTQLSKLLELTGPKSLPAPWLSMAPVSWITPGLKTTAVCRGVLRGVTFLLRREGDHEFLEVPEAQEDVEATFPVHQPGNYSCSYRTDGEGALSEPSATVTIEELAAPPPPVLMHHGESSQVLHPGNKVTLTCVAPLSGVDFQLRRGEKELLVPRSSTSPDRIFFHLNAVALGDGGHYTCRYRLHDNQNGWSGDSAPVELILSDETLPAPEFSPEPESGRALRLRCLAPLEGARFALVREDRGGRRVHRFQSPAGTEALFELHNISVADSANYSCVYVDLKPPFGGSAPSERLELHVDGPPPRPQLRATWSGAVLAGRDAVLRCEGPIPDVTFELLREGETKAVKTVRTPGAAANLELIFVGPQHAGNYRCRYRSWVPHTFESELSDPVELLVAES", "length": 495, "header": "sp|P04217-1|A1BG_HUMAN Isoform 1 of Alpha-1B-glycoprotein OS=Homo sapiens OX=9606 GN=A1BG PE=1 SV=4 CANONICAL=P04217-1" }, "locus": { "chromosome": "19", "start_pos": 58353437, "end_pos": 58347025, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000263100.8", "url": "https://www.ensembl.org/id/ENST00000263100.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000263100.2", "url": "https://www.ensembl.org/id/ENSP00000263100.2" } ] } }, { "isoform_ac": "P04217-2", "url": "", "sequence": { "sequence": "MAPVSWITPGLKTTAVCRGVLRGVTFLLRREGDHEFLEVPEAQEDVEATFPVHQPGNYSCSYRTDGEGALSEPSATVTIEELAAPPPPVLMHHGESSQVLHPGNKVTLTCVAPLSGVDFQLRRGEKELLVPRSSTSPDRIFFHLNAVALGDGGHYTCRYRLHDNQNGWSGDSAPVELILSDETLPAPEFSPEPESGRALRLRCLAPLEGARFALVREDRGGRRVHRFQSPAGTEALFELHNISVADSANYSCVYVDLKPPFGGSAPSERLELHVDGPPPRPQLRATWSGAVLAGRDAVLRCEGPIPDVTFELLREGETKAVKTVRTPGAAANLELIFVGPQHAGNYRCRYRSWVPHTFESELSDPVELLVAES", "length": 373, "header": "sp|P04217-2|A1BG_HUMAN Isoform 2 of Alpha-1B-glycoprotein OS=Homo sapiens OX=9606 GN=A1BG PE=1 SV=4 CANONICAL=P04217-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G00912UN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "P04217", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "P04217@N179", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P04217@N179" } ] }, { "glytoucan_ac": "G03596YS", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "P04217@N179", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P04217@N179" } ] }, { "glytoucan_ac": "G06247RL", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "P04217", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "P04217@N179", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P04217@N179" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "780", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/780" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G08293MJ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "P04217@N179", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P04217@N179" } ] }, { "glytoucan_ac": "G10486CT", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "P04217@N179", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P04217@N179" } ] }, { "glytoucan_ac": "G15038BD", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "P04217@N179", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P04217@N179" } ] }, { "glytoucan_ac": "G27947YN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "P04217", "database": "UniCarbKB", "url": "" }, { "id": "29671580", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29671580" }, { "id": "P04217@N179", "database": "GPTwiki", "url": "https://edwardslab.bmcb.georgetown.edu/gptwiki/P04217@N179" } ] }, { "glytoucan_ac": "G37868ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "780", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/780" }, { "id": "32125861", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "glytoucan_ac": "G42358LZ", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { "id": "P04217", "database": "UniCarbKB", "url": "" }, { "id": "24279413", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24279413" }, { "id": "780", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/780" } ] }, { "glytoucan_ac": "G42962KI", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 179, "start_aa": "Asn", "end_pos": 179, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn179", "evidence": [ { 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"P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "reference": [ { "type": "PubMed", "id": "14760718", "url": "https://glygen.org/publication/PubMed/14760718" } ] }, { "title": "Expression profiling and differential screening between hepatoblastomas and the corresponding normal livers: identification of high expression of the PLK1 oncogene as a poor-prognostic indicator of hepatoblastomas.", "journal": "Oncogene", "date": "2004", "authors": "Yamada S, Ohira M, Horie H, Ando K, Takayasu H, Suzuki Y, Sugano S, Hirata T, Goto T, Matsunaga T, Hiyama E, Hayashi Y, Ando H, Suita S, Kaneko M, Sasaki F, Hashizume K, Ohnuma N, Nakagawara A", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "reference": [ { "type": "PubMed", "id": "15221005", "url": "https://glygen.org/publication/PubMed/15221005" } ] }, { "title": "The nucleotide transporter MRP4 (ABCC4) is highly expressed in human platelets and present in dense granules, indicating a role in mediator storage.", "journal": "Blood", "date": "2004", "authors": "Jedlitschky G, Tirschmann K, Lubenow LE, Nieuwenhuis HK, Akkerman JW, Greinacher A, Kroemer HK", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "15297306", "url": "https://glygen.org/publication/PubMed/15297306" } ] }, { "title": "Cysteine-rich secretory protein 3 is a ligand of alpha1B-glycoprotein in human plasma.", "journal": "Biochemistry", "date": "2004", "authors": "Udby Lene, S\u00f8rensen Ole E, Pass Jesper, Johnsen Anders H, Behrendt Niels, Borregaard Niels, Kjeldsen Lars", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "reference": [ { "type": "PubMed", "id": "15461460", "url": "https://glygen.org/publication/PubMed/15461460" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217#ptm_processing" }, { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Enrichment of glycopeptides for glycan structure and attachment site identification.", "journal": "Nature methods", "date": "2009", "authors": "Nilsson J, Ruetschi U, Halim A, Hesse C, Carlsohn E, Brinkmalm G, Larson G", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217#ptm_processing" }, { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" }, { "database": "GlyConnect", "id": "780", "url": "https://glyconnect.expasy.org/browser/proteins/780" } ], "reference": [ { "type": "PubMed", "id": "19838169", "url": "https://glygen.org/publication/PubMed/19838169" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "Integrative proteomics and tissue microarray profiling indicate the association between overexpressed serum proteins and non-small cell lung cancer.", "journal": "PloS one", "date": "2012", "authors": "Liu Y, Luo X, Hu H, Wang R, Sun Y, Zeng R, Chen H", "evidence": [ { "database": "RefSeq", "id": "NP_570602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570602" } ], "reference": [ { "type": "PubMed", "id": "23284758", "url": "https://glygen.org/publication/PubMed/23284758" } ] }, { "title": "Identification of novel autoantigen in the synovial fluid of rheumatoid arthritis patients using an immunoproteomics approach.", "journal": "PloS one", "date": "2013", "authors": "Biswas S, Sharma S, Saroha A, Bhakuni DS, Malhotra R, Zahur M, Oellerich M, Das HR, Asif AR", "evidence": [ { "database": "RefSeq", "id": "NP_570602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570602" } ], "reference": [ { "type": "PubMed", "id": "23418544", "url": "https://glygen.org/publication/PubMed/23418544" } ] }, { "title": "High precision platelet releasate definition by quantitative reversed protein profiling--brief report.", "journal": "Arteriosclerosis, thrombosis, and vascular biology", "date": "2013", "authors": "Wijten P, van Holten T, Woo LL, Bleijerveld OB, Roest M, Heck AJ, Scholten A", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "23640497", "url": "https://glygen.org/publication/PubMed/23640497" } ] }, { "title": "Proteome profiling of human neutrophil granule subsets, secretory vesicles, and cell membrane: correlation with transcriptome profiling of neutrophil precursors.", "journal": "Journal of leukocyte biology", "date": "2013", "authors": "Rorvig S, Ostergaard O, Heegaard NH, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "23650620", "url": "https://glygen.org/publication/PubMed/23650620" } ] }, { "title": "Pharmacogenomic association of nonsynonymous SNPs in SIGLEC12, A1BG, and the selectin region and cardiovascular outcomes.", "journal": "Hypertension (Dallas, Tex. : 1979)", "date": "2013", "authors": "McDonough CW, Gong Y, Padmanabhan S, Burkley B, Langaee TY, Melander O, Pepine CJ, Dominiczak AF, Cooper-Dehoff RM, Johnson JA", "evidence": [ { "database": "RefSeq", "id": "NP_570602", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_570602" } ], "reference": [ { "type": "PubMed", "id": "23690342", "url": "https://glygen.org/publication/PubMed/23690342" } ] }, { "title": "Computational framework for identification of intact glycopeptides in complex samples.", "journal": "Analytical chemistry", "date": "2014", "authors": "Mayampurath A, Yu CY, Song E, Balan J, Mechref Y, Tang H", "evidence": [ { "database": "UniCarbKB", "id": "P04217", "url": "" }, { "database": "GlyConnect", "id": "780", "url": "https://glyconnect.expasy.org/browser/proteins/780" } ], "reference": [ { "type": "PubMed", "id": "24279413", "url": "https://glygen.org/publication/PubMed/24279413" } ] }, { "title": "Glycomic analysis of high density lipoprotein shows a highly sialylated particle.", "journal": "Journal of proteome research", "date": "2014", "authors": "Huang J, Lee H, Zivkovic AM, Smilowitz JT, Rivera N, German JB, Lebrilla CB", "evidence": [ { "database": "GlyConnect", "id": "780", "url": "https://glyconnect.expasy.org/browser/proteins/780" } ], "reference": [ { "type": "PubMed", "id": "24417605", "url": "https://glygen.org/publication/PubMed/24417605" } ] }, { "title": "Site-Specific Profiling of Serum Glycoproteins Using N-Linked Glycan and Glycosite Analysis Revealing Atypical N-Glycosylation Sites on Albumin and alpha-1B-Glycoprotein.", "journal": "Analytical chemistry", "date": "2018", "authors": "Sun S, Hu Y, Jia L, Eshghi ST, Liu Y, Shah P, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P04217", "url": "" }, { "database": "GlyConnect", "id": "780", "url": "https://glyconnect.expasy.org/browser/proteins/780" } ], "reference": [ { "type": "PubMed", "id": "29671580", "url": "https://glygen.org/publication/PubMed/29671580" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "780", "url": "https://glyconnect.expasy.org/browser/proteins/780" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "journal": "Molecular systems biology", "date": "2018", "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "P04217", "url": "" } ], "reference": [ { "type": "PubMed", "id": "30459171", "url": "https://glygen.org/publication/PubMed/30459171" } ] }, { "title": "Quantitative Longitudinal Inventory of the N-Glycoproteome of Human Milk from a Single Donor Reveals the Highly Variable Repertoire and Dynamic Site-Specific Changes.", "journal": "Journal of proteome research", "date": "2020", "authors": "Zhu J, Lin YH, Dingess KA, Mank M, Stahl B, Heck AJR", "evidence": [ { "database": "GlyConnect", "id": "780", "url": "https://glyconnect.expasy.org/browser/proteins/780" } ], "reference": [ { "type": "PubMed", "id": "32125861", "url": "https://glygen.org/publication/PubMed/32125861" } ] }, { "title": "Amino acid sequence of human plasma alpha 1B-glycoprotein: homology to the immunoglobulin supergene family.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Ishioka N, Takahashi N, Putnam FW", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217#ptm_processing" }, { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "reference": [ { "type": "PubMed", "id": "3458201", "url": "https://glygen.org/publication/PubMed/3458201" } ] }, { "title": "Endo-M Mediated Chemoenzymatic Approach Enables Reversible Glycopeptide Labeling for O-GlcNAcylation Analysis.", "journal": "Angewandte Chemie (International ed. in English)", "date": "2022", "authors": "Chen Y, Tang F, Qin H, Yue X, Nie Y, Huang W, Ye M", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04217", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04217" } ], "reference": [ { "type": "PubMed", "id": "35289036", "url": "https://glygen.org/publication/PubMed/35289036" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04217", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04217" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Characterization of the proteins of isolated human platelet alpha-granules. Evidence for a separate alpha-granule-pool of the glycoproteins IIb and IIIa.", "journal": "Biochimica et biophysica acta", "date": "1981", "authors": "Gogstad GO, Hagen I, Korsmo R, Solum NO", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "6457647", "url": "https://glygen.org/publication/PubMed/6457647" } ] }, { "title": "Platelet alpha-granules.", "journal": "Blood reviews", "date": "1993", "authors": "Harrison P, Cramer EM", "evidence": [ { "database": "Reactome", "id": "R-HSA-114608", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608" } ], "reference": [ { "type": "PubMed", "id": "8467233", "url": "https://glygen.org/publication/PubMed/8467233" } ] }, { "title": "Targeting of proteins to granule subsets is determined by timing and not by sorting: The specific granule protein NGAL is localized to azurophil granules when expressed in HL-60 cells.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1996", "authors": "Le Cabec V, Cowland JB, Calafat J, Borregaard N", "evidence": [ { "database": "Reactome", "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695" } ], "reference": [ { "type": "PubMed", "id": "8692836", "url": "https://glygen.org/publication/PubMed/8692836" } ] } ], "pathway": [ { "id": "hsa:1", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1", "resource": "KEGG Pathway" }, { "id": "R-HSA-114608", "name": "Platelet degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-114608", "resource": "Reactome", "description": "Platelet degranulation" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" } ], "orthologs": [ { "uniprot_canonical_ac": "Q19LI2-1", "protein_name": "Alpha-1B-glycoprotein", "gene_name": "A1bg", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MSLLATVLLLWGFTLGPGNTLMLDSGSEPKLWAEPQSLLEPWANLTLVCAVDLPTKVFELIQNGWFLSQVRLETQVLSYRFSLGAITSNNSGIYRCRCGVEPPVDIHLPALNKWTMLSNAVEVTGKEPLPRPLAHADPVDWITPGGLPVYVMCQVAMRGVTYLLRQEGVDGVQKPDVQHKGTAGFLIYKPGNYSCSYLTHAAGEPSEPSDIVTIKMYASQAPPTLCLMGNYLMIYPQKTYETLACKAPRNAAEFQLRQGGKVLKIHGFSPTRDAILYYVNLKELDNPGPFTCRYRMHKYMHVWSEDSKPVELMWSDETLQAPVLTAEPSSRDLEPGSTVQLRCTAPVSGLRFGLQRQGKPELVVVQMLNSSGTEAVFELHNISTIDSGNYSCIYMEQAPPFSGSSSSEPVELRVNGPPPKPRLEALWKSTVHLGQEAIFRCHGHVPRVSMELVREGFKTPFAVASTRSTSAYLKLLFVGPQHAGNYSCRYTALPPFTFESGISDPVEVIVEG", "length": 512 }, "evidence": [ { "id": "45932767", "url": "http://www.informatics.jax.org/homology/45932767", "database": "MGI" }, { "id": "P04217", "url": "https://omabrowser.org/oma/group/P04217/", "database": "OMA" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9EPH1-1", "protein_name": "Alpha-1B-glycoprotein", "gene_name": "A1bg", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSLLTTVLLLWGFTLGPGNALWLDSGSEPELRAEPQSLLEPWANLTLVCAVDLPTKVFELIMNGWFLSQVRLETPVLSYRFSLGAITSNNSGVYRCRCGVEPPVDIQLPALSKWTMLSNALEVTGKEPLPPPSAHADPVSWITPGGLPVYIMCRVAMRGVTYLLRKEGVDGTQKPDVQHKGTAGFLIYKPGNYSCSYLTHAGGKPSEPSAIVTIKMSATQLPPSLCLMGSYLTIYPQKTHETLACKAPRNAAEFQLRQGERVLNIQGFSPTRDATIYYVNLKELDNQSPFTCRYRMHKYMHVWSEDSKPVELMWSDEKLPAPVLTAEPSSHNLEPGSTVQLRCTAHKAGLRFGLQRQGKPDLVVVQMLNSSGTEAVFELHNISTIDSGNYSCIYMEQAPPFSGSASSEPLELRINGPAPKPRLEALWKGKVPLGHEAIFQCHGHVPRVSMELVREGFKTPFWMASTTSTSAFLKLSFVGPQHTGNYSCRYTALSPFTFESGISDPVEVVVEGS", "length": 513 }, "evidence": [ { "id": "45932767", "url": "http://www.informatics.jax.org/homology/45932767", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 9, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "pmid": "" }, { "name": "extracellular space", "id": "GO:0005615", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "pmid": "" }, { "name": "platelet alpha granule lumen", "id": "GO:0031093", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031093", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "pmid": "" }, { "name": "secretory granule lumen", "id": "GO:0034774", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034774", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "pmid": "" }, { "name": "blood microparticle", "id": "GO:0072562", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0072562", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "pmid": "" }, { "name": "ficolin-1-rich granule lumen", "id": "GO:1904813", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904813", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "pmid": "" }, { "name": "collagen-containing extracellular matrix", "id": "GO:0062023", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "database": "UniProtKB", "id": "P04217", "url": "https://www.uniprot.org/uniprot/P04217" } ], "pmid": "" } ] } ] }, "pro_annotation": [ { "name": "alpha-1B-glycoprotein N-glycosylated 1 (human)", "definition": "An alpha-1B-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-179 of the amino acid sequence represented by UniProtKB:P04217-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P04217-1, Asn-179, MOD:00160~GNO:G00912UN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053329", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053329" } ] }, { "name": "alpha-1B-glycoprotein N-glycosylated 2 (human)", "definition": "An alpha-1B-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-179 of the amino acid sequence represented by UniProtKB:P04217-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P04217-1, Asn-179, MOD:00160~GNO:G06247RL. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053330", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053330" } ] }, { "name": "alpha-1B-glycoprotein N-glycosylated 3 (human)", "definition": "An alpha-1B-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-179 of the amino acid sequence represented by UniProtKB:P04217-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:P04217-1, Asn-179, MOD:00160~GNO:G27947YN. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053331", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053331" } ] }, { "name": "alpha-1B-glycoprotein N-glycosylated 4 (human)", "definition": "An alpha-1B-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-179 of the amino acid sequence represented by UniProtKB:P04217-1, in which the glycan structure is represented by GlyTouCan:G42358LZ. Example: UniProtKB:P04217-1, Asn-179, MOD:00160~GNO:G42358LZ. [PRO:DNx, PMID:24279413]", "evidence": [ { "id": "PR:000053332", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053332" } ] }, { "name": "alpha-1B-glycoprotein N-glycosylated 5 (human)", "definition": "An alpha-1B-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-179 of the amino acid sequence represented by UniProtKB:P04217-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P04217-1, Asn-179, MOD:00160~GNO:G59626AS. [PRO:DNx, PMID:29671580]", "evidence": [ { "id": "PR:000053333", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053333" } ] }, { "name": "alpha-1B-glycoprotein N-glycosylated 6 (human)", "definition": "An alpha-1B-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-371 of the amino acid sequence represented by UniProtKB:P04217-1, in which the glycan structure is represented by GlyTouCan:G42358LZ. Example: UniProtKB:P04217-1, Asn-371, MOD:00160~GNO:G42358LZ. [PRO:DNx, PMID:24279413]", "evidence": [ { "id": "PR:000053334", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053334" } ] }, { "name": "alpha-1B-glycoprotein O-glycosylated 1 (human)", "definition": "An alpha-1B-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-198 of the amino acid sequence represented by UniProtKB:P04217-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P04217-1, Thr-198, MOD:00005~GNO:G29068FM. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053335", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053335" } ] }, { "name": "alpha-1B-glycoprotein O-glycosylated 2 (human)", "definition": "An alpha-1B-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-198 of the amino acid sequence represented by UniProtKB:P04217-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P04217-1, Thr-198, MOD:00005~GNO:G43417UB. [PRO:DNx, PMID:30459171]", "evidence": [ { "id": "PR:000053336", "database": "PRO", "url": "https://proconsortium.org/app/entry/PR:000053336" } ] } ], "site_annotation": [ { "start_pos": 179, "end_pos": 181, "annotation": "n_glycosylation_sequon" }, { "start_pos": 363, "end_pos": 365, "annotation": "n_glycosylation_sequon" }, { "start_pos": 371, "end_pos": 373, "annotation": "n_glycosylation_sequon" }, { "start_pos": 44, "end_pos": 46, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 44, 179, 363, 371 ], "o_linked_sites": [ 74, 198, 312, 317 ], "snv_sites": [ 25, 44, 46, 74, 227, 255, 256, 303, 312, 363, 371, 429 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 179, "end_pos": 181 }, { "start_pos": 363, "end_pos": 365 }, { "start_pos": 371, "end_pos": 373 }, { "start_pos": 44, "end_pos": 46 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 43 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 26 }, { "field": "n_linked_glycan_sites", "count": 8 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "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": 4 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "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_with_glycan", "table_stats": [ { "field": "total", "count": 39 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 26 }, { "field": "n_linked_glycan_sites", "count": 4 }, { "field": "o_linked_glycans", "count": 3 }, { "field": "o_linked_glycan_sites", "count": 4 } ], "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_predicted", "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_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": 14 }, { "field": "total_sites", "count": 12 } ], "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": 14 }, { "field": "total_sites", "count": 12 } ], "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": 26 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }