{ "uniprot_canonical_ac": "O00462-1", "uniprot_ac": "O00462", "uniprot_id": "MANBA_HUMAN", "mass": { "chemical_mass": 100895.0, "monoisotopic_mass": 100895.0 }, "refseq": { "ac": "NP_005899", "name": "beta-mannosidase precursor", "summary": "This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" }, "gene_names": [ { "name": "MANBA", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O00462", "id": "O00462" }, { "name": "MANB1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899", "id": "NP_005899" }, { "name": "MANB1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O00462", "id": "O00462" }, { "name": "MANBA", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899", "id": "NP_005899" } ], "protein_names": [ { "name": "Beta-mannosidase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O00462" }, { "name": "3.2.1.25", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00462" }, { "name": "Lysosomal beta A mannosidase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00462" }, { "name": "Mannanase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00462" }, { "name": "Mannase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O00462" }, { "name": "beta-mannosidase precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899", "id": "NP_005899" }, { "name": "mannase; mannanase; lysosomal beta A mannosidase; mannosidase, beta A, lysosomal; beta-mannosidase A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899", "id": "NP_005899" } ], "function": [ { "annotation": "A novel genetic variant potentially altering the expression of MANBA in the cerebellum associated with attention deficit hyperactivity disorder in Han Chinese children.", "evidence": [ { "database": "RefSeq", "id": "NP_005899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" }, { "database": "PubMed", "id": "34870556", "url": "https://glygen.org/publication/PubMed/34870556" } ] }, { "annotation": "Exoglycosidase that cleaves the single beta-linked mannose residue from the non-reducing end of all N-linked glycoprotein oligosaccharides.", "evidence": [ { "database": "UniProtKB", "id": "E9PFW2", "url": "https://www.uniprot.org/uniprot/E9PFW2#function" }, { "database": "UniProtKB", "id": "ARBA00003150", "url": "https://www.uniprot.org/uniprot/ARBA00003150#function" }, { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462#function" }, { "database": "PubMed", "id": "30552791", "url": "https://glygen.org/publication/PubMed/30552791" }, { "database": "PubMed", "id": "12890191", "url": "https://glygen.org/publication/PubMed/12890191" }, { "database": "UniProtKB", "id": "A0A2R8YEC9", "url": "https://www.uniprot.org/uniprot/A0A2R8YEC9#function" } ] }, { "annotation": "Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" }, { "database": "PubMed", "id": "35897697", "url": "https://glygen.org/publication/PubMed/35897697" } ] }, { "annotation": "Independent putative primary functional variants in NFKB1/MANBA and showed the distinct molecular mechanism by which each putative primary functional variant conferred susceptibility to Primary biliary cholangitis, were identified.", "evidence": [ { "database": "RefSeq", "id": "NP_005899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" }, { "database": "PubMed", "id": "30528300", "url": "https://glygen.org/publication/PubMed/30528300" } ] }, { "annotation": "Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity.", "evidence": [ { "database": "RefSeq", "id": "NP_005899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" }, { "database": "PubMed", "id": "33441424", "url": "https://glygen.org/publication/PubMed/33441424" } ] }, { "annotation": "The MANBA genotypes for a polymorphic CA repeat were related to colorectal cancer risk in a Swedish population but not a Chinese one. In the Swedish population, individuals with < 22 CAs/< 22 CAs had a significantly increased risk for CRC. GeneRIF: Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_005899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" }, { "database": "PubMed", "id": "17899454", "url": "https://glygen.org/publication/PubMed/17899454" } ] }, { "annotation": "The present analysis of the c.1922G>A MANBA mutation underlines the lack of genotype-phenotype correlation in beta-mannosidosis Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_005899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" }, { "database": "PubMed", "id": "19728872", "url": "https://glygen.org/publication/PubMed/19728872" } ] }, { "annotation": "This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" } ] } ], "disease": [ { "disease_id": "DOID:3633", "recommended_name": { "id": "DOID:3633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3633", "name": "beta-mannosidosis", "description": "A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism." }, "synonyms": [ { "id": "DOID:3633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3633", "name": "Beta-D-mannosidosis", "description": "" }, { "id": "DOID:3633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3633", "name": "beta-mannosidase deficiency", "description": "" }, { "id": "DOID:3633", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3633", "name": "lysosomal beta-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009562", "name": "beta-mannosidosis", "description": "Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity." }, { "id": "MONDO:0009562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009562", "name": "Beta-D-mannosidosis", "description": "" }, { "id": "MONDO:0009562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009562", "name": "Beta-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009562", "name": "beta-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009562", "name": "beta-mannosidosis", "description": "" }, { "id": "MONDO:0009562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009562", "name": "lysosomal beta-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009562", "name": "mannosidosis, beta", "description": "" }, { "id": "MONDO:0009562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009562", "name": "MANSB", "description": "" }, { "id": "MONDO:0009562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009562", "name": "lysosomal Beta-mannosidase deficiency", "description": "" }, { "id": "MONDO:0009562", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009562", "name": "mannosidosis, BETA A, lysosomal", "description": "" }, { "id": "MIM:248510", "resource": "MIM", "url": "https://www.omim.org/entry/248510", "name": "Mannosidosis, beta A, lysosomal", "description": "Mannosidosis, beta A, lysosomal" } ], "evidence": [ { "id": "0009562", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009562" }, { "id": "248510", "database": "MIM", "url": "https://www.omim.org/entry/248510" } ] } ], "snv": [ { "evidence": [ { "id": "rs1390760777", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1390760777" }, { "id": "rs1390760777", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1390760777" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 140, "end_pos": 140, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSI->NST).", "chr_id": "4", "chr_pos": "102723001", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I140", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs756753847", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756753847" }, { "id": "rs756753847", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756753847" }, { "id": "rs756753847", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs756753847" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 280, "end_pos": 280, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->SIS).", "chr_id": "4", "chr_pos": "102690606", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N280", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1249324336", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1249324336" }, { "id": "rs1249324336", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1249324336#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 282, "end_pos": 282, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NIS->NIN).", "chr_id": "4", "chr_pos": "102690600", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S282", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1020345959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1020345959" }, { "id": "rs1020345959", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1020345959" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 30, "end_pos": 30, "sequence_org": "S", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWS->NWI).", "chr_id": "4", "chr_pos": "102760806", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S30", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs761444230", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761444230" }, { "id": "rs761444230", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761444230" }, { "id": "rs761444230", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761444230" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 30, "end_pos": 30, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWS->NWR).", "chr_id": "4", "chr_pos": "102760807", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S30", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs369403321", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369403321" }, { "id": "rs369403321", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369403321" }, { "id": "rs369403321", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs369403321" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 348, "end_pos": 348, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGF->NGS).", "chr_id": "4", "chr_pos": "102673988", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F348", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1194057591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194057591" }, { "id": "rs1194057591", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1194057591#frequency_tab" }, { "id": "rs1194057591", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194057591" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 37, "end_pos": 37, "sequence_org": "S", "sequence_mut": "L", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGL).", "chr_id": "4", "chr_pos": "102760785", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S37", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1194057591", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1194057591" }, { "id": "rs1194057591", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1194057591#frequency_tab" }, { "id": "rs1194057591", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1194057591" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 37, "end_pos": 37, "sequence_org": "S", "sequence_mut": "W", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGS->NGW).", "chr_id": "4", "chr_pos": "102760785", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S37", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1307797015", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1307797015" }, { "id": "rs1307797015", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1307797015" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 497, "end_pos": 497, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DKS->NKS).", "chr_id": "4", "chr_pos": "102657897", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D497", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1018072704", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1018072704" }, { "id": "rs1018072704", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1018072704#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 528, "end_pos": 528, "sequence_org": "F", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYF->NYS).", "chr_id": "4", "chr_pos": "102657803", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "F528", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1229910595", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1229910595" }, { "id": "rs1229910595", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1229910595#frequency_tab" }, { "id": "rs1229910595", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1229910595" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 574, "end_pos": 574, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DWS->NWS).", "chr_id": "4", "chr_pos": "102650686", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D574", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs758082396", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758082396" }, { "id": "rs758082396", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs758082396" }, { "id": "rs758082396", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs758082396" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 71, "end_pos": 71, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NYR->NYS).", "chr_id": "4", "chr_pos": "102726648", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R71", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1376939666", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1376939666" }, { "id": "rs1376939666", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1376939666#frequency_tab" }, { "id": "rs1376939666", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1376939666" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 763, "end_pos": 763, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->KCT).", "chr_id": "4", "chr_pos": "102634914", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N763", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1335559712", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1335559712" }, { "id": "rs1335559712", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1335559712" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 765, "end_pos": 765, "sequence_org": "T", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NCT->NCP).", "chr_id": "4", "chr_pos": "102634910", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T765", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1439374701", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1439374701" }, { "id": "rs1439374701", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1439374701" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 77, "end_pos": 77, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NWT->DWT).", "chr_id": "4", "chr_pos": "102726632", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N77", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { 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"sequence_org": "R", "sequence_mut": "H", "comment": "No effect on enzyme activity (in vitro). Decreased protein stability.", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" }, { "database": "PubMed", "id": "30552791", "url": "https://glygen.org/publication/PubMed/30552791" } ] }, { "start_pos": 749, "end_pos": 749, "sequence_org": "L", "sequence_mut": "H", "comment": "No effect on enzyme activity (in vitro). No effect on protein stability.", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" }, { "database": "PubMed", "id": "30552791", "url": "https://glygen.org/publication/PubMed/30552791" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.98", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109323", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109323" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "73.81", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109323", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109323" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": 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"database": "Bgee", "id": "ENSG00000109323", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109323" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "68.85", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000109323", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109323" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.33", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109323", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000109323" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "85.25", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000109323", "url": 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"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", 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"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": 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"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 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"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", 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{ "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O00462", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00462" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O00462" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YCE9", "url": "https://www.uniprot.org/uniprot/A0A2R8YCE9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YCE9-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YCE9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YE79", "url": "https://www.uniprot.org/uniprot/A0A2R8YE79", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YE79-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YE79-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YEC9", "url": "https://www.uniprot.org/uniprot/A0A2R8YEC9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YEC9-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YEC9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YG98", "url": "https://www.uniprot.org/uniprot/A0A2R8YG98", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YG98-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YG98-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RA01", "url": "https://www.uniprot.org/uniprot/D6RA01", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "D6RA01-1", "url": "https://www.uniprot.org/uniprot/D6RA01-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PFW2", "url": "https://www.uniprot.org/uniprot/E9PFW2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "E9PFW2-1", "url": "https://www.uniprot.org/uniprot/E9PFW2-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O00462-1", "url": "https://www.uniprot.org/uniprot/O00462-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPADSFQDRVTSELLRLLLQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVWQDFMFACALYPTDQGFLDSVTAEVAYQIKRLKSHPSIIIWSGNNENEEALMMNWYHISFTDRPIYIKDYVTLYVKNIRELVLAGDKSRPFITSSPTNGAETVAEAWVSQNPNSNYFGDVHFYDYISDCWNWKVFPKARFASEYGYQSWPSFSTLEKVSSTEDWSFNSKFSLHRQHHEGGNKQMLYQAGLHFKLPQSTDPLRTFKDTIYLTQVMQAQCVKTETEFYRRSRSEIVDQQGHTMGALYWQLNDIWQAPSWASLEYGGKWKMLHYFAQNFFAPLLPVGFENENTFYIYGVSDLHSDYSMTLSVRVHTWSSLEPVCSRVTERFVMKGGEAVCLYEEPVSELLRRCGNCTRESCVVSFYLSADHELLSPTNYHFLSSPKEAVGLCKAQITAIISQQGDIFVFDLETSAVAPFVWLDVGSIPGRFSDNGFLMTEKTRTILFYPWEPTSKNELEQSFHVTSLTDIY", "length": 879, "header": "sp|O00462-1|MANBA_HUMAN Isoform 1 of Beta-mannosidase OS=Homo sapiens OX=9606 GN=MANBA PE=1 SV=3 CANONICAL=O00462-1" }, "isoforms": [ { "isoform_ac": "A0A2R8Y211-1", "url": "", "sequence": { "sequence": "MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKSWRLESKIKVSAELCSFRRLWERILPCPFQFLIIAGNPWLVDASL", "length": 365, "header": "tr|A0A2R8Y211-1|A0A2R8Y211_HUMAN Computationally mapped isoform of beta-mannosidase OS=Homo sapiens OX=9606 GN=MANBA PE=1 SV=1 CANONICAL=O00462-1" }, "locus": { "chromosome": "4", "start_pos": 102760894, "end_pos": 102682748, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646311.1", "url": "https://www.ensembl.org/id/ENST00000646311.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493465.1", "url": "https://www.ensembl.org/id/ENSP00000493465.1" } ] } }, { "isoform_ac": "A0A2R8Y4U7-1", "url": "", "sequence": { "sequence": "MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPADSFQDRVTSELLRLLLQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVWQDFMFACALYPTDQGFLDSVTAEVAYQIKRLKSHPSIIIWSGNNENEEALMMNWYHISFTDRPIYIKDYVTLYVKNIRELVLACGKMPDTIDLTNTC", "length": 509, "header": "tr|A0A2R8Y4U7-1|MANBA_HUMAN Computationally mapped isoform of Beta-mannosidase OS=Homo sapiens OX=9606 GN=MANBA PE=1 SV=1 CANONICAL=O00462-1" }, "locus": { "chromosome": "4", "start_pos": 102760894, "end_pos": 102658987, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644545.1", "url": "https://www.ensembl.org/id/ENST00000644545.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493992.1", "url": "https://www.ensembl.org/id/ENSP00000493992.1" } ] } }, { "isoform_ac": "A0A2R8Y524-1", "url": "", "sequence": { "sequence": "MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPADSFQDRVTSELLRLLLQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVWQDFMFACALYPTDQGFLDSVTAEVAYQIKRLKSHPSIIIWSGNNENEEALMMNWYHISFTDRPIYIKDYVTLYVKNIRELVLAGDKSRPFITSSPTNGAETVAEAWVSQNPNSNYFGDVHFYDYISDCWNWKVFPKARFASEYGYQSWPSFSTLEKVSSTEDWSFNSKFSLHRQHHEGGNKQMLYQAGLHFKLPQSTDPLRTFKDTIYLTQVMQAQCVKTETEFYRRSRSEIVDQQGHTMGALYWQLNDIWQAPSWASLEYGGKWKMLHYFAQNFFAPLLPVGFENENTFYIYGVSDLHSDYSMTLSVRVHTWSSLEPVCSRVTERFVMKGGEAVCLYEEPVSELLRRCGNCTRESCVVSFYLSADHELLSPTNYHFLSSPKEAVGLCKAQITGASLNPRLCSQTYREEISNPTKITSISMTPASLSALVLEQQKLMLPWQLPGQAGMSRMNLVPVAALGPSLEQLGGHHLSAR", "length": 886, "header": "tr|A0A2R8Y524-1|A0A2R8Y524_HUMAN Computationally mapped isoform of beta-mannosidase OS=Homo sapiens OX=9606 GN=MANBA PE=1 SV=1 CANONICAL=O00462-1" }, "locus": { "chromosome": "4", "start_pos": 102760894, "end_pos": 102632262, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644159.1", "url": "https://www.ensembl.org/id/ENST00000644159.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494462.1", "url": "https://www.ensembl.org/id/ENSP00000494462.1" } ] } }, { "isoform_ac": "A0A2R8Y7A0-1", "url": "", "sequence": { "sequence": "MSKAEWDTDQWKTENYINESTEAQSKQKEQKSSEDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIY", "length": 199, "header": "tr|A0A2R8Y7A0-1|A0A2R8Y7A0_HUMAN Computationally mapped isoform of Mannosidase beta OS=Homo sapiens OX=9606 GN=MANBA PE=1 SV=1 CANONICAL=O00462-1" }, "locus": { "chromosome": "4", "start_pos": 102727369, "end_pos": 102714439, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646451.1", "url": "https://www.ensembl.org/id/ENST00000646451.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495846.1", "url": "https://www.ensembl.org/id/ENSP00000495846.1" } ] } }, { "isoform_ac": "A0A2R8Y7A7-1", "url": "", "sequence": { "sequence": "SKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKL", "length": 215, "header": "tr|A0A2R8Y7A7-1|A0A2R8Y7A7_HUMAN Computationally mapped isoform of beta-mannosidase OS=Homo sapiens OX=9606 GN=MANBA PE=1 SV=1 CANONICAL=O00462-1" }, "locus": { "chromosome": "4", "start_pos": 102723921, "end_pos": 102679707, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000647129.1", "url": "https://www.ensembl.org/id/ENST00000647129.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496137.1", "url": "https://www.ensembl.org/id/ENSP00000496137.1" } ] } }, { "isoform_ac": "A0A2R8Y7N1-1", "url": "", "sequence": { "sequence": "XDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPADSFQDRVTSEFWGWVGCGPSAQLGQLVSLPWCLC", "length": 230, "header": "tr|A0A2R8Y7N1-1|A0A2R8Y7N1_HUMAN Computationally mapped isoform of beta-mannosidase OS=Homo sapiens OX=9606 GN=MANBA PE=1 SV=1 CANONICAL=O00462-1" }, "locus": { "chromosome": "4", "start_pos": 102722925, "end_pos": 102671983, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645558.1", "url": "https://www.ensembl.org/id/ENST00000645558.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000496399.1", "url": "https://www.ensembl.org/id/ENSP00000496399.1" } ] } }, { "isoform_ac": "A0A2R8YCE9-1", "url": "", "sequence": { "sequence": "MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPADSFQDRVTSELLRLLLQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVCI", "length": 413, "header": "tr|A0A2R8YCE9-1|MANBA_HUMAN Computationally mapped isoform of Beta-mannosidase OS=Homo sapiens OX=9606 GN=MANBA PE=1 SV=1 CANONICAL=O00462-1" }, "locus": { "chromosome": "4", "start_pos": 102760894, "end_pos": 102671003, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000646727.1", "url": "https://www.ensembl.org/id/ENST00000646727.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000493519.1", "url": "https://www.ensembl.org/id/ENSP00000493519.1" } ] } }, { "isoform_ac": "A0A2R8YE79-1", "url": "", "sequence": { "sequence": "MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPADSFQDRVTSEFWGWVGCGPSAQLGQLVTAPFTVCCGC", "length": 397, "header": "tr|A0A2R8YE79-1|MANBA_HUMAN Computationally mapped isoform of Beta-mannosidase OS=Homo sapiens OX=9606 GN=MANBA PE=1 SV=1 CANONICAL=O00462-1" }, "locus": { "chromosome": "4", "start_pos": 102760894, "end_pos": 102671366, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000645348.1", "url": "https://www.ensembl.org/id/ENST00000645348.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495363.1", "url": "https://www.ensembl.org/id/ENSP00000495363.1" } ] } }, { "isoform_ac": "A0A2R8YEC9-1", "url": "", "sequence": { "sequence": "MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPADSFQDRVTSELFHKKMKFFSRHSHGIIGSIFFLFKCSSPLPAGAGLAVVLQPNWANWLRLLLQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVWQDFMFACALYPTDQGFLDSVTAEVAYQIKRLKSHPSIIIWSGNNENEEALMMNWYHISFTDRPIYIKDYVTLYVKNIRELVLAGDKSRPFITSSPTNGAETVAEAWVSQNPNSNYFGDVHFYDYISDCWNWKVFPKARFASEYGYQSWPSFSTLEKVSSTEDWSFNSKFSLHRQHHEGGNKQMLYQAGLHFKLPQSTDPLRTFKDTIYLTQVMQAQCVKTETEFYRRSRSEIVDQQGHTMGALYWQLNDIWQAPSWASLEYGGKWKMLHYFAQNFFAPLLPVGFENENTFYIYGVSDLHSDYSMTLSVRVHTWSSLEPVCSRVTERFVMKGGEAVCLYEEPVSELLRRCGNCTRESCVVSFYLSADHELLSPTNYHFLSSPKEAVGLCKAQITAIISQQGDIFVFDLETSAVAPFVWLDVGSIPGRFSDNGFLMTEKTRTILFYPWEPTSKNELEQSFHVTSLTDIY", "length": 925, "header": "tr|A0A2R8YEC9-1|MANBA_HUMAN Computationally mapped isoform of Beta-mannosidase OS=Homo sapiens OX=9606 GN=MANBA PE=1 SV=1 CANONICAL=O00462-1" }, "locus": { "chromosome": "4", "start_pos": 102760894, "end_pos": 102632060, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642252.1", "url": "https://www.ensembl.org/id/ENST00000642252.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495483.1", "url": "https://www.ensembl.org/id/ENSP00000495483.1" } ] } }, { "isoform_ac": "A0A2R8YG98-1", "url": "", "sequence": { "sequence": "MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQKEQ", "length": 62, "header": "tr|A0A2R8YG98-1|A0A2R8YG98_HUMAN Computationally mapped isoform of Mannosidase beta OS=Homo sapiens OX=9606 GN=MANBA PE=4 SV=1 CANONICAL=O00462-1" }, "locus": { "chromosome": "4", "start_pos": 102760894, "end_pos": 102734563, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000644965.1", "url": "https://www.ensembl.org/id/ENST00000644965.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000495818.1", "url": "https://www.ensembl.org/id/ENSP00000495818.1" } ] } }, { "isoform_ac": "D6RA01-1", "url": "", "sequence": { "sequence": "MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQSLTLSPRLE", "length": 68, "header": "tr|D6RA01-1|D6RA01_HUMAN Computationally mapped isoform of Mannosidase beta OS=Homo sapiens OX=9606 GN=MANBA PE=4 SV=1 CANONICAL=O00462-1" }, "locus": { "chromosome": "4", "start_pos": 102760894, "end_pos": 102753969, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000511813.1", "url": "https://www.ensembl.org/id/ENST00000511813.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000422001.1", "url": "https://www.ensembl.org/id/ENSP00000422001.1" } ] } }, { "isoform_ac": "E9PFW2-1", "url": "", "sequence": { "sequence": "MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPADSFQDRVTSELLRLLLQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVWQDFMFACALYPTDQGFLDSVTAEVAYQIKRLKSHPSIIIWSGNNENEEALMMNWYHISFTDRPIYIKDYVTLYVKNIRELVLAGDKSRPFITSSPTNGAETVAEAWVSQNPNSNYFGDVHFYDYISDCWNWKVFPKARFASEYGYQSWPSFSTLEKVSSTEDWSFNSKFSLHRQHHEGGNKQMLYQAGLHFKLPQSTDPLRTFKDTIYLTQVMQAQCVKTETEFYRRSRSEIVDQQGHTMGALYWQLNDIWQAPSWASLEYGGKWKMLHYFAQNFFAPLLPVGFENENTFYIYGVSDLHSDYSMTLSVRVHTWSSLEPVCSRVTERFVMKGGEAVCLYEEPVSELLRRCGNCTRESCVVSFYLSADHELLSPTNYHFLSSPKEAVGLCKAQITAIISQQGDIFVFDLETSAVAPFVWLDVGSIPGRFSDNGFLMTEKTRTILFYPWEPTSKNELEQSFHVTSLTDIY", "length": 822, "header": "tr|E9PFW2-1|MANBA_HUMAN Computationally mapped isoform of Beta-mannosidase OS=Homo sapiens OX=9606 GN=MANBA PE=1 SV=1 CANONICAL=O00462-1" }, "locus": { "chromosome": "4", "start_pos": 102760894, "end_pos": 102632060, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505239.1", "url": "https://www.ensembl.org/id/ENST00000505239.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000427322.1", "url": "https://www.ensembl.org/id/ENSP00000427322.1" } ] } }, { "isoform_ac": "O00462-1", "url": "", "sequence": { "sequence": "MRLHLLLLLALCGAGTTAAELSYSLRGNWSICNGNGSLELPGAVPGCVHSALFQQGLIQDSYYRFNDLNYRWVSLDNWTYSKEFKIPFEISKWQKVNLILEGVDTVSKILFNEVTIGETDNMFNRYSFDITNVVRDVNSIELRFQSAVLYAAQQSKAHTRYQVPPDCPPLVQKGECHVNFVRKEQCSFSWDWGPSFPTQGIWKDVRIEAYNICHLNYFTFSPIYDKSAQEWNLEIESTFDVVSSKPVGGQVIVAIPKLQTQQTYSIELQPGKRIVELFVNISKNITVETWWPHGHGNQTGYNMTVLFELDGGLNIEKSAKVYFRTVELIEEPIKGSPGLSFYFKINGFPIFLKGSNWIPADSFQDRVTSELLRLLLQSVVDANMNTLRVWGGGIYEQDEFYELCDELGIMVWQDFMFACALYPTDQGFLDSVTAEVAYQIKRLKSHPSIIIWSGNNENEEALMMNWYHISFTDRPIYIKDYVTLYVKNIRELVLAGDKSRPFITSSPTNGAETVAEAWVSQNPNSNYFGDVHFYDYISDCWNWKVFPKARFASEYGYQSWPSFSTLEKVSSTEDWSFNSKFSLHRQHHEGGNKQMLYQAGLHFKLPQSTDPLRTFKDTIYLTQVMQAQCVKTETEFYRRSRSEIVDQQGHTMGALYWQLNDIWQAPSWASLEYGGKWKMLHYFAQNFFAPLLPVGFENENTFYIYGVSDLHSDYSMTLSVRVHTWSSLEPVCSRVTERFVMKGGEAVCLYEEPVSELLRRCGNCTRESCVVSFYLSADHELLSPTNYHFLSSPKEAVGLCKAQITAIISQQGDIFVFDLETSAVAPFVWLDVGSIPGRFSDNGFLMTEKTRTILFYPWEPTSKNELEQSFHVTSLTDIY", "length": 879, "header": "sp|O00462-1|MANBA_HUMAN Isoform 1 of Beta-mannosidase OS=Homo sapiens OX=9606 GN=MANBA PE=1 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"url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G14669DU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 77, "start_aa": "Asn", "end_pos": 77, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn77", "evidence": [ { "id": "1041", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1041" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 77, "start_aa": "Asn", "end_pos": 77, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn77", "evidence": [ { "id": "O00462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00462#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" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] } ], "phosphorylation": [ { "start_pos": 485, "end_pos": 485, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Tyr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O00462", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O00462" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Tyr485" } ], "glycation": [], "keywords": [ "enzyme", "glycohydrolase-activity", "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Lysosomal alpha-D-mannosidase.", "journal": "Bioscience reports", "date": "1999", "authors": "Beccari T, Stinchi S, Orlacchio A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853383" } ], "reference": [ { "type": "PubMed", "id": "10513892", "url": "https://glygen.org/publication/PubMed/10513892" } ] }, { "title": "Purification and characterization of recombinant human lysosomal alpha-mannosidase.", "journal": "Molecular genetics and metabolism", "date": "2001", "authors": "Berg T, King B, Meikle PJ, Nilssen O, Tollersrud OK, Hopwood JJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853383" } ], "reference": [ { "type": "PubMed", "id": "11350179", "url": "https://glygen.org/publication/PubMed/11350179" } ] }, { "title": "Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.", "journal": "The British journal of dermatology", "date": "2003-07", "authors": "Uchino Y, Fukushige T, Yotsumoto S, Hashiguchi T, Taguchi H, Suzuki N, Konohana I, Kanzaki T", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "reference": [ { "type": "PubMed", "id": "12890191", "url": "https://glygen.org/publication/PubMed/12890191" } ] }, { "title": "Mammalian beta-D-mannosidase and beta-mannosidosis.", "journal": "Biochimie", "date": "1992", "authors": "Percheron F, Foglietti MJ, Bernard M, Ricard B", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853383" } ], "reference": [ { "type": "PubMed", "id": "1576208", "url": "https://glygen.org/publication/PubMed/1576208" } ] }, { "title": "Characterization of a human core-specific lysosomal {alpha}1,6-mannosidase involved in N-glycan catabolism.", "journal": "The Journal of biological chemistry", "date": "2005", "authors": "Park C, Meng L, Stanton LH, Collins RE, Mast SW, Yi X, Strachan H, Moremen KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853383", "url": 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"https://www.uniprot.org/uniprot/O00462" } ], "reference": [ { "type": "PubMed", "id": "16904924", "url": "https://glygen.org/publication/PubMed/16904924" } ] }, { "title": "Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.", "journal": "Journal of the American Academy of Dermatology", "date": "2007", "authors": "Molho-Pessach V, Bargal R, Abramowitz Y, Doviner V, Ingber A, Raas-Rothschild A, Ne'eman Z, Zeigler M, Zlotogorski A", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853383" } ], "reference": [ { "type": "PubMed", "id": "17420068", "url": "https://glygen.org/publication/PubMed/17420068" } ] }, { "title": "MANBA polymorphism was related to increased risk of colorectal cancer in Swedish but not in Chinese populations.", "journal": "Acta oncologica (Stockholm, Sweden)", "date": "2008", "authors": "Gao J, Arbman G, He L, Qiao F, Zhang Z, Zhao Z, Rosell J, Sun XF", "evidence": [ { "database": "RefSeq", "id": "NP_005899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" } ], "reference": [ { "type": "PubMed", "id": "17899454", "url": "https://glygen.org/publication/PubMed/17899454" } ] }, { "title": "Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.", "journal": "Molecular genetics and metabolism", "date": "2008", "authors": "Riise Stensland HMF, Persichetti E, Sorriso C, Hansen GM, Bibi L, Paciotti S, Balducci C, Beccari T", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "reference": [ { "type": "PubMed", "id": "18565776", "url": "https://glygen.org/publication/PubMed/18565776" } ] }, { "title": "Human lysosomal alpha-mannosidases exhibit different inhibition and metal binding properties.", "journal": "Protein science : a publication of the Protein Society", "date": "2009", "authors": "Venkatesan M, Kuntz DA, Rose DR", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853383" } ], "reference": [ { "type": "PubMed", "id": "19722277", "url": "https://glygen.org/publication/PubMed/19722277" } ] }, { "title": "A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.", "journal": "BMC medical genetics", "date": "2009", "authors": "Sabourdy F, Labauge P, Stensland HM, Nieto M, Garces VL, Renard D, Castelnovo G, de Champfleur N, Levade T", "evidence": [ { "database": "RefSeq", "id": "NP_005899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" } ], "reference": [ { "type": "PubMed", "id": "19728872", "url": "https://glygen.org/publication/PubMed/19728872" } ] }, { "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": "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": "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": "Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment.", "journal": "Pediatric endocrinology reviews : PER", "date": "2014", "authors": "Borgwardt L, Lund AM, Dali CI", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853383" } ], "reference": [ { "type": "PubMed", "id": "25345101", "url": "https://glygen.org/publication/PubMed/25345101" } ] }, { "title": "amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in alpha-mannosidosis.", "journal": "Human mutation", "date": "2015", "authors": "Riise Stensland HM, Frantzen G, Kuokkanen E, Buvang EK, Klenow HB, Heikinheimo P, Malm D, Nilssen O", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853383" } ], "reference": [ { "type": "PubMed", "id": "25762455", "url": "https://glygen.org/publication/PubMed/25762455" } ] }, { "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": "1041", "url": "https://glyconnect.expasy.org/browser/proteins/1041" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional Variants.", "journal": "Cellular and molecular gastroenterology and hepatology", "date": "2019", "authors": "Hitomi Y, Nakatani K, Kojima K, Nishida N, Kawai Y, Kawashima M, Aiba Y, Nagasaki M, Nakamura M, Tokunaga K", "evidence": [ { "database": "RefSeq", "id": "NP_005899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" } ], "reference": [ { "type": "PubMed", "id": "30528300", "url": "https://glygen.org/publication/PubMed/30528300" } ] }, { "title": "The structure of mammalian beta-mannosidase provides insight into beta-mannosidosis and nystagmus.", "journal": "The FEBS journal", "date": "2019", "authors": "Gytz H, Liang J, Liang Y, Gorelik A, Illes K, Nagar B", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "reference": [ { "type": "PubMed", "id": "30552791", "url": "https://glygen.org/publication/PubMed/30552791" } ] }, { "title": "Kidney disease genetic risk variants alter lysosomal beta-mannosidase (MANBA) expression and disease severity.", "journal": "Science translational medicine", "date": "2021", "authors": "Gu X, Yang H, Sheng X, Ko YA, Qiu C, Park J, Huang S, Kember R, Judy RL, Park J, Damrauer SM, Nadkarni G, Loos RJF, My VTH, Chaudhary K, Bottinger EP, Paranjpe I, Saha A, Brown C, Akilesh S, Hung AM, Palmer M, Baras A, Overton JD, Reid J, Ritchie M, Rader DJ, Susztak K", "evidence": [ { "database": "RefSeq", "id": "NP_005899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" } ], "reference": [ { "type": "PubMed", "id": "33441424", "url": "https://glygen.org/publication/PubMed/33441424" } ] }, { "title": "A novel genetic variant potentially altering the expression of MANBA in the cerebellum associated with attention deficit hyperactivity disorder in Han Chinese children.", "journal": "The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry", "date": "2022-09", "authors": "Chen Xinzhen, Yao Ting, Cai Jinliang, Zhang Qi, Li Shanyawen, Li Huiru, Fu Xihang, Wu Jing", "evidence": [ { "database": "RefSeq", "id": "NP_005899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" } ], "reference": [ { "type": "PubMed", "id": "34870556", "url": "https://glygen.org/publication/PubMed/34870556" } ] }, { "title": "Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation.", "journal": "International journal of molecular sciences", "date": "2022", "authors": "Gonzalez-Jimenez A, Lopez-Cotarelo P, Agudo-Jimenez T, Casanova I, Silanes CL, Martin-Requero A, Matesanz F, Urcelay E, Espino-Paisan L", "evidence": [ { "database": "RefSeq", "id": "NP_005899", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005899" } ], "reference": [ { "type": "PubMed", "id": "35897697", "url": "https://glygen.org/publication/PubMed/35897697" } ] }, { "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" } ] }, { "title": "Cloning, expression, purification, and characterization of the human broad specificity lysosomal acid alpha-mannosidase.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Liao YF, Lal A, Moremen KW", "evidence": [ { "database": "Reactome", "id": "R-HSA-8853383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853383" } ], "reference": [ { "type": "PubMed", "id": "8910458", "url": "https://glygen.org/publication/PubMed/8910458" } ] }, { "title": "Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.", "journal": "Human molecular genetics", "date": "1998", "authors": "Alkhayat AH, Kraemer SA, Leipprandt JR, Macek M, Kleijer WJ, Friderici KH", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" }, { "database": "Reactome", "id": "R-HSA-8853383", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853383" } ], "reference": [ { "type": "PubMed", "id": "9384606", "url": "https://glygen.org/publication/PubMed/9384606" } ] } ], "pathway": [ { "id": "hsa:4126", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:4126", "resource": "KEGG Pathway" }, { "id": "R-HSA-6798695", "name": "Neutrophil degranulation", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "resource": "Reactome", "description": "Neutrophil degranulation" }, { "id": "R-HSA-8853383", "name": "Lysosomal oligosaccharide catabolism", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853383", "resource": "Reactome", "description": "Lysosomal oligosaccharide catabolism" } ], "orthologs": [ { "uniprot_canonical_ac": "Q4FZV0-1", "protein_name": "Beta-mannosidase", "gene_name": "Manba", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MHLHLLFLLALCGAGCMAAGPSYSLRGSWRVSNGNSSLELPATVPGYVHSALQQHGLIQDPYYRFNDLNYRWISLDNWTYSTEFKIPFNRSEWQKVKLIFDGVDTVAEILFNNVTIGKTDNMFTRYSFDVTNVVKDVNSLKLRFQSAVQYAECQSKAHTQYRVPPECPPVEQKGECHVNFIRKEQCSFSWDWGPSFPSQGIWKDVRIEAYNIAHLDHLTFLPLYDNTSQAWTIEIEASFDVVSTKPVGGQVTIAIPELKTQQANHIELQHGQRIVKLLVKIRKDVTVETWWPHGHGNQTGYNTTILFALDGGLKIEKAAKVYFRTVQLIEEPITGSPGLSFYFKINGLPIFLKGSNWIPADSFQDKVTSELLQLLLQSAVDANMNTLRVWGGGIYEQDEFYALCDELGIMVWQDFMFASALYPTEPGFLESVRKEVTYQVRRLKSHPSVIIWSGNNENEVALRVNWFHVNPRDLGTYINDYVTLYVKTIREIVLSEDRSRPFIASSPTNGVKTMTEGWISKDPYSTQYGDMHFYDYFSDCWDWKVFPKARLVSEYGYQSWPSFSTLQKVSRQEDWSYSSRFSLHRQHHGNGNNEMLHQVQLHFQLPQRRDPVRAFKDTIYLTQVMQAQCIKTETEFYLRSRSEIVNGEGHTMGALYWQLNDIWQAPSWASLEYGGKWKMLHYFAQRFFAPLLPVGFEDEGVFYVYGVSDLHKDYPTKLTVRLHRWSSQKPLCTFVSLSAVIKAGEAMVLFQMPVSKLLKRCKECTRDTCVVSFYLSTDNELFSPTNYHFLSSLKDAKGMVKANITVSISQKGDLFVFDLKSSTSAITPFVWLDVGSIPGRFSDNGFLMIKKELSVLFYPWKPTSKSELQQAFSVTSLTDLY", "length": 881 }, "evidence": [ { "id": "45929566", "url": "http://www.informatics.jax.org/homology/45929566", "database": "MGI" }, { "id": "O00462", "url": "https://omabrowser.org/oma/group/O00462/", "database": "OMA" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8K2I4-1", "protein_name": "Beta-mannosidase", "gene_name": "Manba", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MHLHLLLILALFRAGCVVAGPSYSLSGSWRVSNGNGSLELPATVPGYVHSALHQHGLIQDPYYRFNDLNYRWISLDNWTYSTEFKIPFNLSEWQKVKLIFDGVDTVAEILFNNVTIGKTDNMFTGYSFDITNVVKDVNSLKLQFRSAVQYAECQSKAHTSYRVPPECPPVEQKGECHVNFIRKAQCSFSWDWGPSFPSQGIWKDVRIEAYNIAHLDYLTFLPVYDNASQAWNIEIKASFDVASSKSVGGQVTVAIPQLKTQQTNDIELQQEQRIVKLLVKIRKDVAVETWWPRGHGNQTGYNMTILFALDGGLKIEKAAKVYFRTVQLIEEGIKGSPGLSFYFKINGLPIFLKGSNWIPADSFQDKVTSDRLQLLFQSVVDANMNTLRVWGGGIYEQDEFYALCDELGIMVWQDFMFASALYPTEPGFLASVRKEVTYQVRRLKSHPSIIIWSGNNENEVALSVNWFHVNPRDMKTYIDDYVTLYVKNIRKIVLSEDKSRPFIASSPTNGMKTMEEGWISYDPYSIQYGDIHFYNYADDCWNWKIFPKARLVSEYGYQSWPSFSTLEKVSSQEDWAYNSRFSLHRQHHEDGNHQMLHQVKMHFKLPQGTDPLRTFKDTIYLTQVMQAQCIKTETEFYLRSRSEIVDGKGHTMGALYWQLNDIWQAPSWASLEYGGKWKMLHYFARRFFAPLLPVGFEDEGVFYVYGVSDLHKDHHTQLTVRLHHWSSPKPLCSLVNSSIVVKAGEAVVLFQMPVSELLKRCRGCTRETCVVSFYFSTDKELFSPTNYHFLSSLKDAKGLLEANITVNISQKGNVFVFDLETSAVAPFVWLDVGSIPGRFSDNGFLMIRKKLSVLFYPWKPTSKSELQQAFSVTSLTDTY", "length": 879 }, "evidence": [ { "id": "45929566", "url": "http://www.informatics.jax.org/homology/45929566", "database": "MGI" } ], "common_name": "Mouse" }, { "uniprot_canonical_ac": "Q9VMY5-1", "protein_name": "beta-mannosidase", "gene_name": "beta-Man", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MKYGCGLLRNGTTGAVMVGLVCGLYVCSGQCDKVEVIELSNWTITNQNGSLTIANQTLPLGIYSAFAPQVLDSYNDVGLRYLAYDNFTFSNFFQFDVHHFNRGHINLTFHGIDTVSEIRLNHQLLGRTDNMFVRYSYEVSSLLQAENFLEVEIQSPVVAALARANALKEAKKSVPPECPNERYHGECHMNMLRKMQASFSWDWGPAAPSAGIWKNVELEIYEVAVIREVDVDVSRVNGSYWNMHIRCFLDAGGWQNFNGRLVLYAVELLDRPVVVDRYAIKNISHLAPVIEFDQAVPNGKVVTWWPNGYGEQKLYPLHFTLKTWLGPDGPEVRSKTKSHKSLRVGFRTLDLVEDPAPDGVGNTFLFRVNGVEMFMKGSNYIPSHLLPEMQTNEQISHLLRSAKEAHMNMLRVWGGGVYESDYFYQLADSLGLLIWQDMMFACAMYPVNDEFLSSVREEVRQNAMRLSHHPSVAIFVTNNENEAALVQNWYGTLFERDRFESEYRELYLANVIHELKLVSHSSRPQPLVSSPSNGKASEPDNYISSNPQDNQNGDVHFYDYTKDGWDPGIFPRPRFVSEFGFQSFPGAYAWQRSKGEDDDLLGLITHRQHHPLGNVPVIALVERHLPLPFPENENYATALIYFSQIAQAMATKVETELYRSLRDTPHRTMGALYWQLNDVWVAPSWSSIDFYGNWKLLHYWARDFLAPISIVALYEKSTDSLNISLICDQLEVDPRELNVVANVHLWSQLLPRQSTSWDVTLRPNGVQYDKVIAISDLLQGEFTRTNAFLELQLRRGQDVISRTHFFPSSIAGAVGIEDPGLEFEIASRTCLNTTNVVRNSVSISIQVKRPAVFVYLELLKPYRYTLSENGFMQTEPMHVVYLTFDAPLCARLLRKSDLRVLTVNDFMR", "length": 908 }, "evidence": [ { "id": "O00462", "url": "https://omabrowser.org/oma/group/O00462/", "database": "OMA" } ], "common_name": "Fruit fly" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "pmid": "" }, { "name": "azurophil granule membrane", "id": "GO:0035577", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035577", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "pmid": "" }, { "name": "lysosomal lumen", "id": "GO:0043202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043202", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "pmid": "" }, { "name": "metabolic process", "id": "GO:0008152", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008152", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "pmid": "" }, { "name": "protein modification process", "id": "GO:0036211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036211", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "pmid": "" }, { "name": "oligosaccharide catabolic process", "id": "GO:0009313", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009313", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "pmid": "" }, { "name": "glycoprotein catabolic process", "id": "GO:0006516", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006516", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 4, "go_terms": [ { "name": "beta-mannosidase activity", "id": "GO:0004567", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004567", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "pmid": "" }, { "name": "hydrolase activity, acting on glycosyl bonds", "id": "GO:0016798", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016798", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "pmid": "" }, { "name": "hydrolase activity, hydrolyzing O-glycosyl compounds", "id": "GO:0004553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004553", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "pmid": "" }, { "name": "mannose binding", "id": "GO:0005537", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005537", "evidence": [ { "database": "UniProtKB", "id": "O00462", "url": "https://www.uniprot.org/uniprot/O00462" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 280, "end_pos": 282, "annotation": "n_glycosylation_sequon" }, { "start_pos": 284, "end_pos": 286, "annotation": "n_glycosylation_sequon" }, { "start_pos": 28, "end_pos": 30, "annotation": "n_glycosylation_sequon" }, { "start_pos": 297, "end_pos": 299, "annotation": "n_glycosylation_sequon" }, { "start_pos": 302, "end_pos": 304, "annotation": "n_glycosylation_sequon" }, { "start_pos": 35, "end_pos": 37, "annotation": "n_glycosylation_sequon" }, { "start_pos": 763, "end_pos": 765, "annotation": "n_glycosylation_sequon" }, { "start_pos": 77, "end_pos": 79, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "R-HSA-6798739", "name": "Exocytosis of azurophil granule membrane proteins", "equation": "", "summary": "Azurophil or primary granules were originally defined by their high content of myeloperoxidase (MPO) and their affinity for the basic dye azure A (Spicer & Hardin 1969). Azurophil granules are generally described as spherical. Like lysosomes, they contain CD63 in their membrane (Cham et al. 1994) but are regarded as specialized secretory granules rather than lysosomes (Cieutat et al. 1998). Azurophil granules undergo limited exocytosis in response to stimulation (Sengelov et al. 1993, Faurschou et al. 2002), their primary role is believed to be killing and degradation of engulfed microbes in the phagolysosome (Joiner et al. 1989).", "cellular_location": "plasma membrane, azurophil granule membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P51148-1", "P42785-1", "P61224-1", "P49768-1", "Q86UQ4-1", "Q9Y2Q0-1", "Q9Y2G3-1", "P10253-1", "P15291-1", "O95497-1", "Q8NF37-1", "O00462-1", "P10620-1", "P15309-1" ], "evidence": [ { "id": "R-HSA-6798739", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798739" } ] }, { "id": "R-HSA-8853710", "name": "MANBA hydrolyses GlcNAc:Man", "equation": "", "summary": "Beta-mannosidase (MANBA) is the final exoglycosidase in the degradation pathway for N-linked oligosaccharides of glycoproteins, cleaving the beta-mannoside linkage of the disaccharide Man-1,4-GlcNAc (Alkhayat et al. 1998, Percheron et al. 1992). Defects in MANBA causes beta-mannosidosis (MIM:248510), a lysosomal storage disease of glycoprotein catabolism. A wide range of symptoms are observed, dependent on age of onset. The disease is associated with various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy (Alkhayat et al. 1998, Molho-Pessach et al. 2007).", "cellular_location": "lysosomal lumen", "input_participant_list": [ "R-ALL-8853719" ], "output_participant_list": [], "enzyme_list": [ "O00462-1" ], "evidence": [ { "id": "R-HSA-8853710", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8853710" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-8853719", "participant_name": "GlcNAc:Man [lysosomal lumen]", "crossref": [ { "id": "71553", "database": "ChEBI", "url": "" }, { "id": "G90333CG", "database": "GlyTouCan", "url": "" }, { "id": "000013532414", "database": "ZINC", "url": "" }, { "id": "HMDB0006535", "database": "HMDB Metabolite", "url": "" }, { "id": "71553", "database": "ChEBI", "url": "" }, { "id": "G90333CG", "database": "GlyTouCan", "url": "" }, { "id": "000013532414", "database": "ZINC", "url": "" }, { "id": "HMDB0006535", "database": "HMDB Metabolite", "url": "" }, { "id": "71553", "database": "ChEBI", "url": "" }, { "id": "G90333CG", "database": "GlyTouCan", "url": "" }, { "id": "000013532414", "database": "ZINC", "url": "" }, { "id": "HMDB0006535", "database": "HMDB Metabolite", "url": "" }, { "id": "71553", "database": "ChEBI", "url": "" }, { "id": "G90333CG", "database": "GlyTouCan", "url": "" }, { "id": "000013532414", "database": "ZINC", "url": "" }, { "id": "HMDB0006535", "database": "HMDB Metabolite", "url": "" }, { "id": "71553", "database": "ChEBI", "url": "" }, { "id": "G90333CG", "database": "GlyTouCan", "url": "" }, { "id": "000013532414", "database": "ZINC", "url": "" }, { "id": "HMDB0006535", "database": "HMDB Metabolite", "url": "" }, { "id": "71553", "database": "ChEBI", "url": "" }, { "id": "G90333CG", "database": "GlyTouCan", "url": "" }, { "id": "000013532414", "database": "ZINC", "url": "" }, { "id": "HMDB0006535", "database": "HMDB Metabolite", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "O00462", "gene_name": "MANBA", "activity": [ { "ec_number": "3.2.1.25", "activity": "Hydrolysis of terminal, non-reducing beta-D-mannose residues in beta-D-mannosides.", "evidence": [ { "id": "O00462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00462" } ] }, { "ec_number": "3.2.1.25", "activity": "", "evidence": [ { "id": "O00462", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O00462" } ] } ] }, { "uniprot_ac": "O95497", "gene_name": "VNN1", "activity": [ { "ec_number": "3.5.1.92", "activity": "(R)-pantetheine + H2O = (R)-pantothenate + cysteamine.", "evidence": [ { "id": "O95497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95497" } ] }, { "ec_number": "3.5.1.92", "activity": "", "evidence": [ { "id": "O95497", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95497" } ] } ] }, { "uniprot_ac": "P10253", "gene_name": "GAA", "activity": [ { "ec_number": "3.2.1.20", "activity": "Hydrolysis of terminal, non-reducing (1->4)-linked alpha-D-glucose residues with release of alpha-D-glucose.", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10253" } ] }, { "ec_number": "3.2.1.20", "activity": "", "evidence": [ { "id": "P10253", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10253" } ] } ] }, { "uniprot_ac": "P10620", "gene_name": "MGST1", "activity": [ { "ec_number": "2.5.1.18", "activity": "glutathione + RX = a halide anion + an S-substituted glutathione + H(+).", "evidence": [ { "id": "P10620", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10620" } ] }, { "ec_number": "2.5.1.18", "activity": "", "evidence": [ { "id": "P10620", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P10620" } ] } ] }, { "uniprot_ac": "P15291", "gene_name": "B4GALT1", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.275", "activity": "a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a neolactoside nLc4Cer(d18:1(4E)) + H(+) + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.22", "activity": "D-glucose + UDP-alpha-D-galactose = H(+) + lactose + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.38", "activity": "an N-acetyl-beta-D-glucosaminyl derivative + UDP-alpha-D-galactose = a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] }, { "ec_number": "2.4.1.90", "activity": "N-acetyl-D-glucosamine + UDP-alpha-D-galactose = beta-D-galactosyl-(1->4)-N-acetyl-D-glucosamine + H(+) + UDP.", "evidence": [ { "id": "P15291", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15291" } ] } ] }, { "uniprot_ac": "P15309", "gene_name": "ACP3", "activity": [ { "ec_number": "3.1.3.5", "activity": "a ribonucleoside 5'-phosphate + H2O = a ribonucleoside + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] }, { "ec_number": "3.1.3.2", "activity": "a phosphate monoester + H2O = an alcohol + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] }, { "ec_number": "3.1.3.48", "activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] }, { "ec_number": "3.1.3.2", "activity": "", "evidence": [ { "id": "P15309", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P15309" } ] } ] }, { "uniprot_ac": "P42785", "gene_name": "PRCP", "activity": [ { "ec_number": "3.4.16.2", "activity": "Cleavage of a -Pro-|-Xaa bond to release a C-terminal amino acid.", "evidence": [ { "id": "P42785", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42785" } ] }, { "ec_number": "3.4.16.2", "activity": "", "evidence": [ { "id": "P42785", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P42785" } ] } ] }, { "uniprot_ac": "P49768", "gene_name": "PSEN1", "activity": [ { "ec_number": "3.4.23.-", "activity": "", "evidence": [ { "id": "P49768", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P49768" } ] } ] }, { "uniprot_ac": "P51148", "gene_name": "RAB5C", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P51148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51148" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P51148", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51148" } ] } ] }, { "uniprot_ac": "P61224", "gene_name": "RAP1B", "activity": [ { "ec_number": "3.6.5.2", "activity": "GTP + H2O = GDP + H(+) + phosphate.", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61224" } ] }, { "ec_number": "3.6.5.2", "activity": "", "evidence": [ { "id": "P61224", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P61224" } ] } ] }, { "uniprot_ac": "Q86UQ4", "gene_name": "ABCA13", "activity": [ { "ec_number": "7.6.2.-", "activity": "", "evidence": [ { "id": "Q86UQ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q86UQ4" } ] } ] }, { "uniprot_ac": "Q8NF37", "gene_name": "LPCAT1", "activity": [ { "ec_number": "2.3.1.51", "activity": "a 1-acyl-sn-glycero-3-phosphate + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphate + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] }, { "ec_number": "2.3.1.23", "activity": "a 1-acyl-sn-glycero-3-phosphocholine + an acyl-CoA = a 1,2-diacyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] }, { "ec_number": "2.3.1.67", "activity": "1-O-alkyl-sn-glycero-3-phosphocholine + acetyl-CoA = a 1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] }, { "ec_number": "2.3.1.25", "activity": "1-O-(1Z-alkenyl)-sn-glycero-3-phosphocholine + an acyl-CoA = 1-O-(1Z-alkenyl)-2-acyl-sn-glycero-3-phosphocholine + CoA.", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] }, { "ec_number": "2.3.1.23", "activity": "", "evidence": [ { "id": "Q8NF37", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8NF37" } ] } ] }, { "uniprot_ac": "Q9Y2G3", "gene_name": "ATP11B", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2G3" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2G3", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2G3" } ] } ] }, { "uniprot_ac": "Q9Y2Q0", "gene_name": "ATP8A1", "activity": [ { "ec_number": "7.6.2.1", "activity": "ATP + H2O + phospholipidSide 1 = ADP + phosphate + phospholipidSide 2.", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] }, { "ec_number": "7.6.2.1", "activity": "", "evidence": [ { "id": "Q9Y2Q0", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9Y2Q0" } ] } ] } ], "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": [ 28, 35, 77, 280, 284, 297, 302, 763 ], "o_linked_sites": [], "snv_sites": [ 30, 37, 71, 77, 99, 140, 280, 282, 348, 497, 528, 574, 763, 765 ], "glycation_sites": [], "phosphorylation_sites": [ 485 ], "sequon_annotation_sites": [ { "start_pos": 280, "end_pos": 282 }, { "start_pos": 284, "end_pos": 286 }, { "start_pos": 28, "end_pos": 30 }, { "start_pos": 297, "end_pos": 299 }, { "start_pos": 302, "end_pos": 304 }, { "start_pos": 35, "end_pos": 37 }, { "start_pos": 763, "end_pos": 765 }, { "start_pos": 77, "end_pos": 79 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 10 }, { "field": "total_sites", "count": 8 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 9 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 2 }, { "field": "total_sites", "count": 2 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 2 }, { "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": 2 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 2 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 6 }, { "field": "total_sites", "count": 6 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 6 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 } ], "sort_fields": [ "start_pos", "end_pos", "kinase_uniprot_canonical_ac", "kinase_gene_name", "residue", "comment", "site_lbl" ] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 16 }, { "field": "total_sites", "count": 14 } ], "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": 16 }, { "field": "total_sites", "count": 14 } ], "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" ] } ] }