B4GALT7 (beta-1,4-galactosyltransferase 7)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11285
Gene name Gene Name - the full gene name approved by the HGNC.
Beta-1,4-galactosyltransferase 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
B4GALT7
Synonyms (NCBI Gene) Gene synonyms aliases
EDSP1, EDSSLA, EDSSPD1, XGALT1, XGPT, XGPT1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 distinc
SNPs SNP information provided by dbSNP.
Gene SNPs Other IDs Associated diseases
Show/Hide all(10)
SNP ID Visualize variation Clinical significance Consequence
rs28937869 C>T Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs121917817 C>A Pathogenic Coding sequence variant, missense variant
rs121917818 T>C Pathogenic Coding sequence variant, missense variant
rs142476892 C>G,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant, 5 prime UTR variant
rs187063864 C>T Likely-pathogenic, pathogenic Missense variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(222)
miRTarBase ID miRNA Experiments Reference
MIRT036015 hsa-miR-1301-3p CLASH 23622248
MIRT697141 hsa-miR-1910-3p HITS-CLIP 23313552
MIRT697140 hsa-miR-6511a-5p HITS-CLIP 23313552
MIRT682062 hsa-miR-4257 HITS-CLIP 23313552
MIRT682061 hsa-miR-1247-3p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0003831 Function Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IDA 24052259
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005794 Component Golgi apparatus IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
604327 930 ENSG00000027847
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID Q9UBV7
Protein name Beta-1,4-galactosyltransferase 7 (Beta-1,4-GalTase 7) (Beta4Gal-T7) (b4Gal-T7) (EC 2.4.1.-) (Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I) (UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7) (UDP-galactose:beta-N-acetylglucosa
Protein function Required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.
PDB 4IRP , 4IRQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13733 Glyco_transf_7N 79 → 177 N-terminal region of glycosyl transferase group 7 Domain
PF02709 Glyco_transf_7C 181 → 259 N-terminal domain of galactosyltransferase Family
Tissue specificity TISSUE SPECIFICITY: High expression in heart, pancreas and liver, medium in placenta and kidney, low in brain, skeletal muscle and lung.
Sequence 
MFPSRRKAAQLPWEDGRSGLLSGGLPRKCSVFHLFVACLSLGFFSLLWLQLSCSGDVARA
VRGQGQETSGPPRACPPEPPPEHWEEDASWGPHRLAVLVPFRERFEELLVFVPHMRRFLS
RKKIRHHIYVLNQVDHFRFNRAALINVGFLESSNSTDYIAMHDVDLLPLNEELDYGFPEA
GPFHVASPELHPLYHYKTYVGGILLLSKQHYRLCNGMSNRFWGWGREDDEFYRRIKGAGL
QLFRPSGITTGYKTFRHLHDPAWRKRDQKRIAAQKQEQFKVDREGGLNTVKYHVASRTAL
SVGGAPCTVLNIMLDCDKTATPWCTFS
Sequence length 327
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ehlers-Danlos Syndrome Ehlers-Danlos syndrome progeroid type, ehlers-danlos syndrome, spondylodysplastic type, 1 rs187063864, rs121917817, rs121917818, rs28937869, rs375845310 N/A
Larsen-Like Syndrome larsen-like syndrome, b3gat3 type rs28937869 N/A
Show/Hide Text Mining Associations (21)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Atlanto Axial Fusion Associate 24668659
Carcinoma Hepatocellular Associate 38025683
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 10473568
Developmental Disabilities Associate 24668659
Ehlers Danlos Syndrome Associate 10473568, 2106134, 24755949
Ehlers Danlos syndrome progeroid form Associate 28882145, 30914273, 34193099
Ehlers Danlos syndrome type 3 Associate 28882145, 31614862
Glioblastoma Associate 33553434
Growth Disorders Associate 31614862
HEM dysplasia Associate 31278392, 31614862