Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2683
Gene name Gene Name - the full gene name approved by the HGNC.
Beta-1,4-galactosyltransferase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
B4GALT1
Synonyms (NCBI Gene) Gene synonyms aliases
B4GAL-T1, CDG2D, CLDLFIB, GGTB2, GT1, GTB, beta4Gal-T1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CDG2D, CLDLFIB, GT1
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
SP1 Activation 17557191
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000138 Component Golgi trans cisterna IDA 6121819
GO:0000139 Component Golgi membrane TAS
GO:0002064 Process Epithelial cell development IEA
GO:0002526 Process Acute inflammatory response IEA
GO:0003831 Function Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
137060 924 ENSG00000086062
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Congenital disorder of glycosylation Congenital disorder of glycosylation type 2D, B4GALT1-CDG rs121434387, rs1264383808, rs766244312, rs1555497568, rs1555496968, rs267606740, rs1568296260, rs1562937199, rs28939378, rs121908583, rs1568757730, rs28936415, rs587776874, rs387906831, rs151173406
View all (80 more)
11901181, 21920538, 27604308
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Unknown
Disease term Disease name Evidence References Source
Gout Gout GWAS
Associations from Text Mining
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