{ "uniprot_canonical_ac": "Q9UBV7-1", "uniprot_ac": "Q9UBV7", "uniprot_id": "B4GT7_HUMAN", "mass": { "chemical_mass": 37406.0, "monoisotopic_mass": 37406.0 }, "refseq": { "ac": "NP_009186", "name": "beta-1,4-galactosyltransferase 7", "summary": "This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186" }, "gene_names": [ { "name": "B4GALT7", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9UBV7", "id": "Q9UBV7" }, { "name": "B4GALT7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186", "id": "NP_009186" }, { "name": "EDSP1; EDSSLA; EDSSPD1; XGALT1; XGPT; XGPT1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186", "id": "NP_009186" }, { "name": "PRO1478", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9UBV7", "id": "Q9UBV7" }, { "name": "XGALT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9UBV7", "id": "Q9UBV7" } ], "protein_names": [ { "name": "Beta-1,4-galactosyltransferase 7", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9UBV7" }, { "name": "2.4.1.-", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UBV7" }, { "name": "2.4.1.133", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UBV7" }, { "name": "Beta-1,4-GalTase 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UBV7" }, { "name": "Beta4Gal-T7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UBV7" }, { "name": "Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UBV7" }, { "name": "UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UBV7" }, { "name": "UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UBV7" }, { "name": "UDP-galactose:beta-xylose beta-1,4-galactosyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UBV7" }, { "name": "XGPT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UBV7" }, { "name": "XGalT-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UBV7" }, { "name": "Xylosylprotein 4-beta-galactosyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UBV7" }, { "name": "Xylosylprotein beta-1,4-galactosyltransferase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UBV7" }, { "name": "b4Gal-T7", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9UBV7" }, { "name": "beta-1,4-galactosyltransferase 7", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186", "id": "NP_009186" }, { "name": "beta-1,4-galactosyltransferase VII; beta4Gal-T7; beta4GalT-VII; UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7; galactosyltransferase I; proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I; beta-1,4-GalTase 7; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7; xylosylprotein 4-beta-galactosyltransferase; xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7; xylosylprotein beta-1,4-galactosyltransferase; UDP-galactose:beta-xylose beta-1,4-galactosyltransferase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186", "id": "NP_009186" } ], "function": [ { "annotation": "Define some of the clinical features of B4GALT7 and B3GALT6-related conditions and underlined the extreme hypermobility of distal joints and the soft, doughy skin on the hands and feet as features that may be useful as the first clues for a correct diagnosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_009186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186" }, { "database": "PubMed", "id": "31614862", "url": "https://glygen.org/publication/PubMed/31614862" } ] }, { "annotation": "Identified two key structural features forming stacking interactions with the aglycone, and the hydrogen bond between the His(195) nitrogen backbone and the carbonyl group of the coumarinyl molecule to develop a tight binder of hbeta4GalT7", "evidence": [ { "database": "RefSeq", "id": "NP_009186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186" }, { "database": "PubMed", "id": "25568325", "url": "https://glygen.org/publication/PubMed/25568325" } ] }, { "annotation": "Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7#function" }, { "database": "PubMed", "id": "24052259", "url": "https://glygen.org/publication/PubMed/24052259" } ] }, { "annotation": "The findings in this family expand the clinical phenotype of B4GALT7-related linkeropathies to include perinatal lethal skeletal dysplasia", "evidence": [ { "database": "RefSeq", "id": "NP_009186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186" }, { "database": "PubMed", "id": "31278392", "url": "https://glygen.org/publication/PubMed/31278392" } ] }, { "annotation": "The phenotypes described in this article caused by bi-allelic mutations in B4GALT7 would benefit from reclassification and loss of its current association with PEDS. These conditions would be better grouped with the other linkeropathies.", "evidence": [ { "database": "RefSeq", "id": "NP_009186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186" }, { "database": "PubMed", "id": "26940150", "url": "https://glygen.org/publication/PubMed/26940150" } ] }, { "annotation": "This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009].", "evidence": [ { "database": "RefSeq", "id": "NP_009186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186" } ] } ], "disease": [ { "disease_id": "DOID:0080738", "recommended_name": { "id": "DOID:0080738", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080738", "name": "Ehlers-Danlos syndrome spondylodysplastic type 1", "description": "An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35." }, "synonyms": [ { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1", "description": "" }, { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "EDSSPD1", "description": "" }, { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "Ehlers-Danlos syndrome with Short stature and Limb anomalies", "description": "" }, { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "Ehlers-Danlos syndrome, progeroid type 1", "description": "" }, { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "Ehlers-Danlos syndrome, progeroid type, 1", "description": "" }, { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1", "description": "" }, { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "PDS, defective biosynthesis of", "description": "" }, { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "XGPT deficiency", "description": "" }, { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "dermatan sulfate proteoglycan", "description": "" }, { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "dermatan sulphate proteoglycan", "description": "" }, { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "galactosyltransferase 1 deficiency", "description": "" }, { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "proteodermatan sulfate, defective biosynthesis of", "description": "" }, { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "xylosylprotein 4-Beta-galactosyltransferase deficiency", "description": "" }, { "id": "MONDO:0020682", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0020682", "name": "Ehlers-Danlos syndrome, progeroid type, 1, formerly", "description": "" }, { "id": "MIM:130070", "resource": "MIM", "url": "https://www.omim.org/entry/130070", "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1", "description": "Ehlers-Danlos syndrome, spondylodysplastic type, 1" } ], "evidence": [ { "id": "130070", "database": "MIM", "url": "https://www.omim.org/entry/130070" }, { "id": "B4GALT7", "database": "Genomics England", "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/B4GALT7/#!details" }, { "id": "11285", "database": "GlyCosmos", "url": "https://glycosmos.org/glycogenes/show/11285#disease" } ] }, { "disease_id": "MONDO:0007526", "recommended_name": { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "Ehlers-Danlos syndrome, spondylodysplastic type", "description": "A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars." }, "synonyms": [ { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "B4GALT7-CDG", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "EDS, progeroid type", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "Ehlers-Danlos syndrome progeroid type", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "PDS", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "defective biosynthesis of proteodermatan sulfate", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "defective biosynthesis of proteodermatan sulphate", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "galactosyltransferase I deficiency", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "EDSSPD1", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "Ehlers-Danlos syndrome with short stature and limb anomalies", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "Ehlers-Danlos syndrome, spondylodysplastic type, 1", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "Pds, defective biosynthesis of", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "XGPT deficiency", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "dermatan sulfate proteoglycan", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "dermatan sulphate proteoglycan", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "galactosyltransferase 1 deficiency", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "proteodermatan sulfate, defective biosynthesis of", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "xylosylprotein 4-beta-galactosyltransferase deficiency", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "Ehlers-Danlos syndrome, progeroid type", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "Ehlers-Danlos syndrome, progeroid type (former)", "description": "" }, { "id": "MONDO:0007526", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526", "name": "spondylodysplastic Ehlers-Danlos syndrome", "description": "" } ], "evidence": [ { "id": "0007526", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007526" } ] } ], "snv": [ { "evidence": [ { "id": "Q9UBV7", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9UBV7" } ], "glycoeffect": [], "start_pos": 103, "end_pos": 103, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", "sequence_mut": "K", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "5", "chr_pos": "177604435", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "E103", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" 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"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": "" 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"" }, { "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", 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"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 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"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, 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in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial 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": "Q9UBV7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UBV7" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "Q9UBV7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UBV7" } ], "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": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "Q9UBV7", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9UBV7" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"start_pos": 177607338, "end_pos": 177604471, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505468.1", "url": "https://www.ensembl.org/id/ENST00000505468.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000420886.1", "url": "https://www.ensembl.org/id/ENSP00000420886.1" } ] } }, { "isoform_ac": "D6RJI5-1", "url": "", "sequence": { "sequence": "MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARAVRGQGQETSGPPRACPPEPPPEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLSRKKIRHHIYVLNQVDHFSLAHPAQVQPGSAHQRGLPGEQQQHGLHCHARR", "length": 170, "header": "tr|D6RJI5-1|B4GT7_HUMAN Computationally mapped isoform of Beta-1,4-galactosyltransferase 7 OS=Homo sapiens OX=9606 GN=B4GALT7 PE=1 SV=1 CANONICAL=Q9UBV7-1" }, "locus": { "chromosome": "5", "start_pos": 177607379, "end_pos": 177600211, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000505433.5", "url": "https://www.ensembl.org/id/ENST00000505433.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000425591.1", "url": "https://www.ensembl.org/id/ENSP00000425591.1" } ] } }, { "isoform_ac": "H0Y9D6-1", "url": "", "sequence": { "sequence": "RGQGQETSGPPRACPPEPPPEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLSRKKIRHHIYVLNQVDHFR", "length": 77, "header": "tr|H0Y9D6-1|H0Y9D6_HUMAN Computationally mapped isoform of Beta-1,4-galactosyltransferase 7 OS=Homo sapiens OX=9606 GN=B4GALT7 PE=1 SV=1 CANONICAL=Q9UBV7-1" }, "locus": { "chromosome": "5", "start_pos": 177605045, "end_pos": 177604312, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000507061.1", "url": "https://www.ensembl.org/id/ENST00000507061.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000423868.1", "url": "https://www.ensembl.org/id/ENSP00000423868.1" } ] } }, { "isoform_ac": "Q9UBV7-1", "url": "", "sequence": { "sequence": "MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARAVRGQGQETSGPPRACPPEPPPEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLSRKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTALSVGGAPCTVLNIMLDCDKTATPWCTFS", "length": 327, "header": "sp|Q9UBV7-1|B4GT7_HUMAN Isoform 1 of Beta-1,4-galactosyltransferase 7 OS=Homo sapiens OX=9606 GN=B4GALT7 PE=1 SV=1 CANONICAL=Q9UBV7-1" }, "locus": { "chromosome": "5", "start_pos": 177609692, "end_pos": 177600211, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000029410.10", "url": "https://www.ensembl.org/id/ENST00000029410.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000029410.5", "url": "https://www.ensembl.org/id/ENSP00000029410.5" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 154, "start_aa": "Asn", "end_pos": 154, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn154", "evidence": [ { "id": "Q9UBV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBV7#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme", "glycosyltransferase-activity", "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Okajima T, Yoshida K, Kondo T, Furukawa K", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "reference": [ { "type": "PubMed", "id": "10438455", "url": "https://glygen.org/publication/PubMed/10438455" } ] }, { "title": "Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Almeida R, Levery SB, Mandel U, Kresse H, Schwientek T, Bennett EP, Clausen H", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" }, { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10473568", "url": "https://glygen.org/publication/PubMed/10473568" } ] }, { "title": "Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene.", "journal": "J. Biol. Chem.", "date": "1999", "authors": "Okajima T, Fukumoto S, Furukawa K, Urano T", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" }, { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10506123", "url": "https://glygen.org/publication/PubMed/10506123" } ] }, { "title": "Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions.", "journal": "Biochim. Biophys. Acta", "date": "1999", "authors": "Clausen H., Schwientek T., Almeida R., Amado M.", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "reference": [ { "type": "PubMed", "id": "10580128", "url": "https://glygen.org/publication/PubMed/10580128" } ] }, { "title": "Structure/function of the human Ga1beta1,3-glucuronosyltransferase. Dimerization and functional activity are mediated by two crucial cysteine residues.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Ouzzine M, Gulberti S, Netter P, Magdalou J, Fournel-Gigleux S", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "10842173", "url": "https://glygen.org/publication/PubMed/10842173" } ] }, { "title": "Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II.", "journal": "Journal of molecular biology", "date": "2000", "authors": "Gotting C, Kuhn J, Zahn R, Brinkmann T, Kleesiek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "11099377", "url": "https://glygen.org/publication/PubMed/11099377" } ] }, { "title": "Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6).", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Bai X, Zhou D, Brown JR, Crawford BE, Hennet T, Esko JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "11551958", "url": "https://glygen.org/publication/PubMed/11551958" } ] }, { "title": "Cloning, characterization, and chromosome mapping of the human GlcAT-S gene.", "journal": "Journal of human genetics", "date": "2002", "authors": "Marcos I, Galan JJ, Borrego S, Antinolo G", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "12522689", "url": "https://glygen.org/publication/PubMed/12522689" } ] }, { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Structural basis for acceptor substrate recognition of a human glucuronyltransferase, GlcAT-P, an enzyme critical in the biosynthesis of the carbohydrate epitope HNK-1.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Kakuda S, Shiba T, Ishiguro M, Tagawa H, Oka S, Kajihara Y, Kawasaki T, Wakatsuki S, Kato R", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "14993226", "url": "https://glygen.org/publication/PubMed/14993226" } ] }, { "title": "A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.", "journal": "American journal of medical genetics. Part A", "date": "2004", "authors": "Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, Al-Mureikhi MS, Kennedy S, Al-Thani G, Tsui LC, Teebi AS", "evidence": [ { "database": "Reactome", "id": "R-HSA-3560783", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560783" } ], "reference": [ { "type": "PubMed", "id": "15211654", "url": "https://glygen.org/publication/PubMed/15211654" } ] }, { "title": "Analysis of the DXD motifs in human xylosyltransferase I required for enzyme activity.", "journal": "The Journal of biological chemistry", "date": "2004", "authors": "Gotting C, Muller S, Schottler M, Schon S, Prante C, Brinkmann T, Kuhn J, Kleesiek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "15294915", "url": "https://glygen.org/publication/PubMed/15294915" } ] }, { "title": "Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity.", "journal": "The Biochemical journal", "date": "2005", "authors": "Muller S, Schottler M, Schon S, Prante C, Brinkmann T, Kuhn J, Gotting C, Kleesiek K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "15461586", "url": "https://glygen.org/publication/PubMed/15461586" } ] }, { "title": "XT-II, the second isoform of human peptide-O-xylosyltransferase, displays enzymatic activity.", "journal": "The Journal of biological chemistry", "date": "2007", "authors": "Voglmeir J, Voglauer R, Wilson IB", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "17194707", "url": "https://glygen.org/publication/PubMed/17194707" } ] }, { "title": "Molecular characterization of beta1,4-galactosyltransferase 7 genetic mutations linked to the progeroid form of Ehlers-Danlos syndrome (EDS).", "journal": "FEBS letters", "date": "2010", "authors": "Bui C, Talhaoui I, Chabel M, Mulliert G, Coughtrie MW, Ouzzine M, Fournel-Gigleux S", "evidence": [ { "database": "Reactome", "id": "R-HSA-3560783", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560783" } ], "reference": [ { "type": "PubMed", "id": "20691685", "url": "https://glygen.org/publication/PubMed/20691685" } ] }, { "title": "Crystal structures of beta-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate Binding.", "journal": "J. Biol. Chem.", "date": "2013", "authors": "Tsutsui Y, Ramakrishnan B, Qasba PK", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "reference": [ { "type": "PubMed", "id": "24052259", "url": "https://glygen.org/publication/PubMed/24052259" } ] }, { "title": "Ehlers-Danlos syndrome associated with glycosaminoglycan abnormalities.", "journal": "Advances in experimental medicine and biology", "date": "2014", "authors": "Miyake N, Kosho T, Matsumoto N", "evidence": [ { "database": "Reactome", "id": "R-HSA-3560783", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560783" } ], "reference": [ { "type": "PubMed", "id": "24443026", "url": "https://glygen.org/publication/PubMed/24443026" } ] }, { "title": "Probing the acceptor active site organization of the human recombinant beta1,4-galactosyltransferase 7 and design of xyloside-based inhibitors.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Saliba M, Ramalanjaona N, Gulberti S, Bertin-Jung I, Thomas A, Dahbi S, Lopin-Bon C, Jacquinet JC, Breton C, Ouzzine M, Fournel-Gigleux S", "evidence": [ { "database": "RefSeq", "id": "NP_009186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186" } ], "reference": [ { "type": "PubMed", "id": "25568325", "url": "https://glygen.org/publication/PubMed/25568325" } ] }, { "title": "Further defining the phenotypic spectrum of B4GALT7 mutations.", "journal": "American journal of medical genetics. Part A", "date": "2016", "authors": "Salter CG, Davies JH, Moon RJ, Fairhurst J, Bunyan D, Foulds N", "evidence": [ { "database": "RefSeq", "id": "NP_009186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186" } ], "reference": [ { "type": "PubMed", "id": "26940150", "url": "https://glygen.org/publication/PubMed/26940150" } ] }, { "title": "Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia.", "journal": "European journal of human genetics : EJHG", "date": "2019", "authors": "Mihalic Mosher T, Zygmunt DA, Koboldt DC, Kelly BJ, Johnson LR, McKenna DS, Hood BC, Hickey SE, White P, Wilson RK, Martin PT, McBride KL", "evidence": [ { "database": "RefSeq", "id": "NP_009186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186" } ], "reference": [ { "type": "PubMed", "id": "31278392", "url": "https://glygen.org/publication/PubMed/31278392" } ] }, { "title": "Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.", "journal": "Genes", "date": "2019", "authors": "Caraffi SG, Maini I, Ivanovski I, Pollazzon M, Giangiobbe S, Valli M, Rossi A, Sassi S, Faccioli S, Rocco MD, Magnani C, Campos-Xavier B, Unger S, Superti-Furga A, Garavelli L", "evidence": [ { "database": "RefSeq", "id": "NP_009186", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_009186" } ], "reference": [ { "type": "PubMed", "id": "31614862", "url": "https://glygen.org/publication/PubMed/31614862" } ] }, { "title": "Molecular cloning and expression of glucuronyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Kitagawa H, Tone Y, Tamura J, Neumann KW, Ogawa T, Oka S, Kawasaki T, Sugahara K", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "9506957", "url": "https://glygen.org/publication/PubMed/9506957" } ] }, { "title": "A beta-1,3-N-acetylglucosaminyltransferase with poly-N-acetyllactosamine synthase activity is structurally related to beta-1,3-galactosyltransferases.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Zhou D, Dinter A, Gutierrez Gallego R, Kamerling JP, Vliegenthart JF, Berger EG, Hennet T", "evidence": [ { "database": "Reactome", "id": "R-HSA-1971475", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475" } ], "reference": [ { "type": "PubMed", "id": "9892646", "url": "https://glygen.org/publication/PubMed/9892646" } ] } ], "pathway": [ { "id": "hsa:11285", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:11285", "resource": "KEGG Pathway" }, { "id": "R-HSA-1971475", "name": "A tetrasaccharide linker sequence is required for GAG synthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1971475", "resource": "Reactome", "description": "A tetrasaccharide linker sequence is required for GAG synthesis" }, { "id": "R-HSA-3560783", "name": "Defective B4GALT7 causes EDS, progeroid type", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560783", "resource": "Reactome", "description": "Defective B4GALT7 causes EDS, progeroid type" } ], "orthologs": [ { "uniprot_canonical_ac": "F7ETN7-1", "protein_name": "Beta-1,4-galactosyltransferase", "gene_name": "B4galt7", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MLPSRRKAAQLPWEDGRLLPGGLRRKCSIFHLFIAFLLLVFFSLLWLQLSCSGDVAQVTRGQGQETSGPPRACPPEPPPEHWEEDESWGPHRLAVLVPFRERFEELLVFVPHMHRFLSRKKIQHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEAGPFHVASPELHPLYHYKTYVGGILLLSKQHYQLCNGMSNRFWGWGREDDEFYRRIKGAGLQLFRPLGITTGYQTFRHLHDPAWRKRDQKRIAAQKQEQFKVDREGGLNTVRYRVDSRTALSVGGAPCTVLNVMLDCDKTATPWCTFG", "length": 325 }, "evidence": [ { "id": "45226212", "url": "http://www.informatics.jax.org/homology/45226212", "database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q8R087-1", "protein_name": "Beta-1,4-galactosyltransferase 7", "gene_name": "B4galt7", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"https://www.ebi.ac.uk/QuickGO/term/GO:0098588", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "Golgi membrane", "id": "GO:0000139", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0000139", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "Golgi cisterna membrane", "id": "GO:0032580", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032580", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 10, "go_terms": [ { "name": "carbohydrate metabolic process", "id": "GO:0005975", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005975", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "protein modification process", "id": "GO:0036211", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036211", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "negative regulation of fibroblast proliferation", "id": "GO:0048147", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048147", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "protein N-linked glycosylation", "id": "GO:0006487", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006487", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "glycosaminoglycan biosynthetic process", "id": "GO:0006024", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006024", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "glycosaminoglycan metabolic process", "id": "GO:0030203", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030203", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "proteoglycan metabolic process", "id": "GO:0006029", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006029", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "supramolecular fiber organization", "id": "GO:0097435", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097435", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "proteoglycan biosynthetic process", "id": "GO:0030166", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030166", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "glycosylation", "id": "GO:0070085", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070085", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "glycosyltransferase activity", "id": "GO:0016757", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016757", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "galactosyltransferase activity", "id": "GO:0008378", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008378", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "manganese ion binding", "id": "GO:0030145", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030145", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity", "id": "GO:0003831", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003831", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" }, { "name": "xylosylprotein 4-beta-galactosyltransferase activity", "id": "GO:0046525", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046525", "evidence": [ { "database": "UniProtKB", "id": "Q9UBV7", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 154, "end_pos": 156, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "15297", "name": "", "equation": "3-O-(beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-galactose = 3-O-(beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBV7-1", "Q8R087-1", "Q9VBZ9-1" ], "evidence": [ { "id": "15297", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/15297" } ] }, { "id": "R-HSA-1889981", "name": "B4GALT7 transfers Gal group to xylosyl-unit of the tetrasaccharide linker", "equation": "", "summary": "Beta-1,4-galactosyltransferase 7 (B4GALT7) adds galactose (Gal) to beta-xyloside in a beta-1,4 linkage creating the second unit in the formation of the tetrasaccharide linker, the precursor required for glycosaminoglycan (GAG) synthesis (Almeida et al. 1999). Defects in B4GALT7 cause Ehlers-Danlos syndrome progeroid type (EDSP) (MIM:130070) (Okajima et al. 1999).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBV7-1" ], "evidence": [ { "id": "R-HSA-1889981", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1889981" } ] }, { "id": "R-HSA-3560804", "name": "Defective B4GALT7 does not transfer Gal to xylosyl-unit of the tetrasaccharide linker", "equation": "", "summary": "Beta 1,4 galactosyltransferase 7 (B4GALT7) adds galactose (Gal) to beta-xyloside in a beta-1,4-linkage creating the second unit in the tetrasaccharide linker sequence in proteoglycans, the precursor required for extension of glycosaminoglycan (GAG) chains (Almeida et al. 1999). Defects in B4GALT7 does not transfer Gal to the xylosyl-unit and therefore the tetrasaccharide linker sequence necessary for extension of the GAG chain cannot be completed, affecting GAG synthesis and causing Ehlers Danlos syndrome progeroid type (EDSP) (MIM:130070) (Okajima et al. 1999, Miyake et al. 2014). Mutations causing EDSP are A186D, L206P and R270C (Okajima et al. 1999, Almeida et al. 1999, Bui et al. 2010, Faiyaz-Ul-Haque et al. 2004).", "cellular_location": "Golgi lumen, Golgi membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q9UBV7-1" ], "evidence": [ { "id": "R-HSA-3560804", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3560804" } ] } ], "reaction_participants": [], "reaction_enzymes": [ { "uniprot_ac": "Q8R087", "gene_name": "B4galt7", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q8R087", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R087" } ] }, { "ec_number": "2.4.1.133", "activity": "3-O-(beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-galactose = 3-O-(beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q8R087", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q8R087" } ] } ] }, { "uniprot_ac": "Q9UBV7", "gene_name": "B4GALT7", "activity": [ { "ec_number": "2.4.1.-", "activity": "", "evidence": [ { "id": "Q9UBV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ] }, { "ec_number": "2.4.1.133", "activity": "3-O-(beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-galactose = 3-O-(beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9UBV7", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9UBV7" } ] } ] }, { "uniprot_ac": "Q9VBZ9", "gene_name": "beta4GalT7", "activity": [ { "ec_number": "2.4.1.133", "activity": "3-O-(beta-D-xylosyl)-L-seryl-[protein] + UDP-alpha-D-galactose = 3-O-(beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-seryl-[protein] + H(+) + UDP.", "evidence": [ { "id": "Q9VBZ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VBZ9" } ] }, { "ec_number": "2.4.1.133", "activity": "", "evidence": [ { "id": "Q9VBZ9", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9VBZ9" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 1 }, { "field": "total_sites", "count": 1 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 1 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 6 } ], "sort_fields": [ "start_pos", "end_pos", "subjects_tested", "subjects_positive", "frequency", "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": 2 }, { "field": "total_sites", "count": 2 } ], "sort_fields": [ 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