Gene Gene information from NCBI Gene database.
Entrez ID 2683
Gene name Beta-1,4-galactosyltransferase 1
Gene symbol B4GALT1
Synonyms (NCBI Gene)
B4GAL-T1CDG2DCLDLFIBGGTB2GT1GTBbeta4Gal-T1
Chromosome 9
Chromosome location 9p21.1
Summary This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to si
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs182359666 T>A,C Conflicting-interpretations-of-pathogenicity, uncertain-significance Intron variant
rs1564035076 ->G Pathogenic Coding sequence variant, frameshift variant, intron variant
miRNA miRNA information provided by mirtarbase database.
1320
miRTarBase ID miRNA Experiments Reference
MIRT002675 hsa-miR-124-3p Microarray 15685193
MIRT020817 hsa-miR-155-5p Proteomics 18668040
MIRT021980 hsa-miR-128-3p Microarray 17612493
MIRT002675 hsa-miR-124-3p Microarray 18668037
MIRT002675 hsa-miR-124-3p Microarray 15685193
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Activation 17557191
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
76
GO ID Ontology Definition Evidence Reference
GO:0000138 Component Golgi trans cisterna IDA 6121819
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0002064 Process Epithelial cell development IEA
GO:0002526 Process Acute inflammatory response IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
137060 924 ENSG00000086062
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P15291
Protein name Beta-1,4-galactosyltransferase 1 (Beta-1,4-GalTase 1) (Beta4Gal-T1) (b4Gal-T1) (EC 2.4.1.-) (Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase) (Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase) (EC 2.4.1.38) (Lactose
Protein function [Beta-1,4-galactosyltransferase 1]: The Golgi complex form catalyzes the production of lactose in the lactating mammary gland and could also be responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well
PDB 2AE7 , 2AEC , 2AES , 2AGD , 2AH9 , 2FY7 , 2FYA , 2FYB , 3EE5 , 4EE3 , 4EE4 , 4EE5 , 4EEA , 4EEG , 4EEM , 4EEO , 4L41 , 6FWT , 6FWU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13733 Glyco_transf_7N 130 263 N-terminal region of glycosyl transferase group 7 Domain
PF02709 Glyco_transf_7C 267 344 N-terminal domain of galactosyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, but at very low levels in fetal and adult brain.
Sequence
MRLREPLLSGSAAMPGASLQRACRLLVAVCALHLGVTLVYYLAGRDLSRLPQLVGVSTPL
QGGSNSAAAIGQSSGELRTGGARPPPPLGASSQPRPGGDSSPVVDSGPGPASNLTSVPVP
HTTALSLPACPEESPLLVGPMLIEFNMPVDLELVAKQNPNVKMGGRYAPRDCVSPHKVAI
IIPFRNRQEHLKYWLYYLHPVLQRQQLDYGIYVINQAGDTIFNRAKLLNVGFQEALKDYD
YTCFVFSDVDLIPMNDHNAYRCF
SQPRHISVAMDKFGFSLPYVQYFGGVSALSKQQFLTI
NGFPNNYWGWGGEDDDIFNRLVFRGMSISRPNAVVGRCRMIRHS
RDKKNEPNPQRFDRIA
HTKETMLSDGLNSLTYQVLDVQRYPLYTQITVDIGTPS
Sequence length 398
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Galactose metabolism
N-Glycan biosynthesis
Various types of N-glycan biosynthesis
Other types of O-glycan biosynthesis
Mannose type O-glycan biosynthesis
Glycosaminoglycan biosynthesis - keratan sulfate
Glycosphingolipid biosynthesis - lacto and neolacto series
Metabolic pathways
  Keratan sulfate biosynthesis
Interaction With Cumulus Cells And The Zona Pellucida
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
Lactose synthesis
Neutrophil degranulation
N-Glycan antennae elongation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
36
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
B4GALT1-congenital disorder of glycosylation Pathogenic rs1564035076, rs1840249855 RCV000017616
RCV001293779
Combined low LDL and fibrinogen Pathogenic rs551564683 RCV003228703
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
B4GALT1-related disorder Likely benign; Benign rs769719479, rs756049904, rs9169, rs886063874, rs749540740, rs374769857, rs773016727, rs749157379, rs114438904 RCV003923603
RCV003966504
RCV003950300
RCV003933391
RCV003921413
RCV003959860
RCV003968995
RCV003942428
RCV003962899
Congenital disorder of glycosylation Uncertain significance; Likely benign rs886063861, rs754771244, rs886063865, rs537888935, rs886063859, rs751351046, rs886063871, rs779761525, rs886063864, rs113144091, rs3841451, rs753854896, rs150774756 RCV000400836
RCV000392424
RCV000264743
RCV000323528
RCV000277205
RCV000300707
RCV000361915
RCV000317423
RCV000313639
RCV000287084
RCV000366157
RCV000393571
RCV000326771
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 37303063
Adenocarcinoma of Lung Associate 31847905, 37303063
Alzheimer Disease Associate 37188790
Carcinoma Ovarian Epithelial Associate 23551967
Carcinoma Renal Cell Associate 27092876
Congenital Disorders of Glycosylation Associate 21920538, 32157688
Disease Associate 21920538
Glioblastoma Associate 35111402
Glycogen Storage Disease XIV Associate 31800099
Hepatitis C Chronic Associate 37763696