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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 Show/Hide all (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 Show/Hide all (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
PF02709 Glyco_transf_7C 267 → 344 N-terminal domain of galactosyltransferase Family
PF13733 Glyco_transf_7N 130 → 263 N-terminal region of glycosyl transferase group 7 Domain
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 Pathway Reactome Pathway
Galactose metabolism Keratan sulfate biosynthesis
N-Glycan biosynthesis Interaction With Cumulus Cells And The Zona Pellucida
Various types of N-glycan biosynthesis Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
Other types of O-glycan biosynthesis Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
Mannose type O-glycan biosynthesis Lactose synthesis
Glycosaminoglycan biosynthesis - keratan sulfate Neutrophil degranulation
Glycosphingolipid biosynthesis - lacto and neolacto series N-Glycan antennae elongation
Metabolic pathways  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
B4GALT1-congenital disorder of glycosylation Pathogenic rs1564035076, rs1840249855 RCV000017616
RCV001293779
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined low LDL and fibrinogen Pathogenic rs551564683 RCV003228703
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (6)
Phenotype Name Clinical Significance Source Reference Evidence Score
B4GALT1-related disorder Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation Uncertain significance; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2D — CTD, Disgenet
CTD, Disgenet
—
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID — HPO —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION — Disgenet 11901181,21920538,32157688
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (54)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 22927297
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31717588
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 37188790 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
B4GALT1-CDG Congenital Disorder Of Glycosylation Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 29793447
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 22982306
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 29793447
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31717588
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 23551967 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 27092876 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only