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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 similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycocon... See more...
Aliases for B4GALT1 Gene
Aliases for B4GALT1 Gene
- Beta-1,4-Galactosyltransferase 1 2 3 4 5
- Beta4Gal-T1 2 3 4
- UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 1 3 4
- Beta-N-Acetylglucosaminylglycopeptide Beta-1,4-Galactosyltransferase 3 4
- Beta-N-Acetylglucosaminyl-Glycolipid Beta-1,4-Galactosyltransferase 3 4
- UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 1 2 3
- Neolactotriaosylceramide Beta-1,4-Galactosyltransferase 3 4
- UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 1 3 4
- N-Acetyllactosamine Synthase 3 4
- Lactose Synthase A Protein 3 4
- Beta-1,4-GalTase 1 3 4
- Nal Synthase 3 4
External Ids for B4GALT1 Gene
- HGNC: 924
- NCBI Entrez Gene: 2683
- Ensembl: ENSG00000086062
- OMIM®: 137060
- UniProtKB/Swiss-Prot: P15291
Previous HGNC Symbols for B4GALT1 Gene
- GGTB2
Previous GeneCards Identifiers for B4GALT1 Gene
- GC09M033422
- GC09M033280
- GC09M033094
Summaries for B4GALT1 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 similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT 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 and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008]
GeneCards Summary for B4GALT1 Gene
B4GALT1 (Beta-1,4-Galactosyltransferase 1) is a Protein Coding gene. Diseases associated with B4GALT1 include Congenital Disorder Of Glycosylation, Type Iid and Immunodeficiency 47. Among its related pathways are Pre-NOTCH Expression and Processing and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and cytoskeletal protein binding. An important paralog of this gene is B4GALT2.
UniProtKB/Swiss-Prot Summary for B4GALT1 Gene
-
[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 as the carbohydrate moieties of glycolipids.
-
[Processed beta-1,4-galactosyltransferase 1]: The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix.
Additional gene information for B4GALT1 Gene
- HGNC (924)
- NCBI Entrez Gene (2683)
- Ensembl (ENSG00000086062)
- OMIM® (137060)
- UniProtKB/Swiss-Prot (P15291)
- Open Targets Platform(ENSG00000086062)
- Monarch Initiative
- Alliance of Genome Resources
- Search for B4GALT1 at DataMed
- Search for B4GALT1 at HumanCyc
No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B4GALT1 Gene
Genomics for B4GALT1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for B4GALT1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around B4GALT1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B4GALT1
- Top Transcription factor binding sites by QIAGEN in the B4GALT1 gene promoter:
-
- CUTL1
- FOXO4
- NF-kappaB
- NF-kappaB1
- NRSF form 1
- NRSF form 2
- Pax-5
- RelA
- S8
Genomic Locations for B4GALT1 Gene
Latest Assembly
- chr9:33,104,077-33,167,356
- (GRCh38/hg38)
- Size:
- 63,280 bases
- Orientation:
- Minus strand
Previous Assembly
- chr9:33,104,075-33,167,334
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 63,260 bases
- Orientation:
- Minus strand
Genomic View for B4GALT1 Gene
Genes around B4GALT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 9p21.1 by HGNC
- 9p21.1 by Entrez Gene
- 9p21.1 by Ensembl
B4GALT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for B4GALT1 Gene
Proteins for B4GALT1 Gene
-
Protein details for B4GALT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P15291-B4GT1_HUMAN
- Recommended name:
- Beta-1,4-galactosyltransferase 1
- Protein Accession:
- P15291
- B2R710
- D3DRL2
- Q12909
- Q12910
- Q12911
- Q14456
- Q14509
- Q14523
Protein attributes for B4GALT1 Gene
- Size:
- 398 amino acids
- Molecular mass:
- 43920 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
-
- Homodimer; and heterodimer with alpha-lactalbumin to form lactose synthase. Interacts (via N-terminal cytoplasmic domain) with UBE2Q1 (via N-terminus); the interaction is direct (By similarity).
Three dimensional structures from OCA and Proteopedia for B4GALT1 Gene
Protein Expression for B4GALT1 Gene
Post-translational modifications for B4GALT1 Gene
- The soluble form derives from the membrane forms by proteolytic processing.
-
Glycosylation at Asn113
- NX_P15291 (NX_P15291-1)
- Modification sites at PhosphoSitePlus
Other Protein References for B4GALT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ B4GALT1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for B4GALT1
- Novus Biologicals Antibodies for B4GALT1
- Invitrogen Antibodies for B4GALT1 (AFLGC-B4GALT1)
-
Custom Antibody ServicesProSci Antibodies for B4GALT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for B4GALT1
- Sino Biological Antibodies for B4GALT1
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for B4GALT1
- Origene Custom Protein Services for B4GALT1
- Sino Biological Recombinant Proteins for B4GALT1
- Sino Biological Cell Lysates for B4GALT1
Assay products for research
- G Biosciences Immunotag™ Beta-1,4-galactosyltransferase 1 ELISA Kit
- RayBiotech Custom Human B4GalT1 ELISA
-
Custom Assay ServicesOriGene ELISA Kits for B4GALT1
-
Boster Bio ELISA Kits for B4GALT1
- Sino Biological Assays for B4GALT1
No data available for DME Specific Peptides for B4GALT1 Gene
Domains & Families for B4GALT1 Gene
Gene Families for B4GALT1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted membrane proteins
Protein Domains for B4GALT1 Gene
- InterPro:
- Blocks:
-
- Metazoa galactosyltransferase
Suggested Antigen Peptide Sequences for B4GALT1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ57328, highly similar to Beta-1,4-galactosyltransferase 1 (EC 2.4.1.-) (B4DMM8_HUMAN)
- UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1 (B4GT1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P15291- Family:
-
- Belongs to the glycosyltransferase 7 family.
Function for B4GALT1 Gene
Molecular function for B4GALT1 Gene
- UniProtKB/Swiss-Prot 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 as the carbohydrate moieties of glycolipids.
- UniProtKB/Swiss-Prot Function:
- [Processed beta-1,4-galactosyltransferase 1]: The cell surface form functions as a recognition molecule during a variety of cell to cell and cell to matrix interactions, as those occurring during development and egg fertilization, by binding to specific oligosaccharide ligands on opposing cells or in the extracellular matrix.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=D-glucose + UDP-alpha-D-galactose = H(+) + lactose + UDP; Xref=Rhea:RHEA:12404, ChEBI:CHEBI:4167, ChEBI:CHEBI:15378, ChEBI:CHEBI:17716, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914; EC=2.4.1.22; Evidence={ECO:0000269|PubMed:16157350};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=an N-acetyl-beta-D-glucosaminyl derivative + UDP-alpha-D-galactose = a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + H(+) + UDP; Xref=Rhea:RHEA:22932, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:61631, ChEBI:CHEBI:66914, ChEBI:CHEBI:133507; EC=2.4.1.38; Evidence={ECO:0000269|PubMed:16157350};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=N-acetyl-D-glucosamine + UDP-alpha-D-galactose = beta-D-galactosyl-(1->4)-N-acetyl-D-glucosamine + H(+) + UDP; Xref=Rhea:RHEA:17745, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:60152, ChEBI:CHEBI:66914, ChEBI:CHEBI:506227; EC=2.4.1.90; Evidence={ECO:0000269|PubMed:16157350};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-alpha-D-galactose = a neolactoside nLc4Cer(d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:31499, ChEBI:CHEBI:15378, ChEBI:CHEBI:17006, ChEBI:CHEBI:17103, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914; EC=2.4.1.275; Evidence={ECO:0000250|UniProtKB:P08037};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=beta-D-glucosylceramide + UDP-alpha-D-galactose = beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide + H(+) + UDP; Xref=Rhea:RHEA:62552, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:79208, ChEBI:CHEBI:83264; Evidence={ECO:0000250|UniProtKB:P08037};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a neolactoside IV(3)-beta-GlcNAc-nLc4Cer + UDP-alpha-D-galactose = beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide + H(+) + UDP; Xref=Rhea:RHEA:62548, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:90357, ChEBI:CHEBI:144378; Evidence={ECO:0000250|UniProtKB:P08037};.
- GENATLAS Biochemistry:
- UDP galactose:beta-N-acetyl glucosamine beta 1,4,galactosylransferase 1,ubiquitously expressed,involved in lactose biosynthesis,down-regulated by CDKN2A
Enzyme Numbers (IUBMB) for B4GALT1 Gene
Phenotypes From GWAS Catalog for B4GALT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003831 | beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity | IEA,IDA | 33805 |
| GO:0003945 | N-acetyllactosamine synthase activity | IEA,IDA | 33805 |
| GO:0004461 | lactose synthase activity | EXP,IDA | 33805 |
| GO:0005515 | protein binding | IPI | -- |
| GO:0008092 | cytoskeletal protein binding | IBA | 21873635 |
Phenotypes for B4GALT1 Gene
- MGI mutant phenotypes for B4GALT1:
-
inferred from 3 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- renal/urinary system phenotype
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- integument phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for B4GALT1:
-
- Decreased NF-kappaB reporter expression
- Decreased viability
- shRNA abundance <= 25%
- Reduced mammosphere formation
- no effect
- Increased S DNA content
- Decreased viability in glioblastoma multiforme (GBM) lineage
- Decreased West Nile virus (WNV) infection
- Decreased infection with West Nile virus (WNV)
- Cell division defect
Animal Models for B4GALT1 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for B4GALT1 - Starting at $85 >
- * B4GALT1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for B4GALT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B4GALT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for B4GALT1
miRNA for B4GALT1 Gene
- miRTarBase miRNAs that target B4GALT1
-
- hsa-miR-124-3p (MIRT002675)
- mmu-miR-124-3p (MIRT004099)
- mmu-miR-7b-5p (MIRT009325)
- mmu-miR-9-5p (MIRT015482)
- hsa-miR-155-5p (MIRT020817)
- hsa-miR-128-3p (MIRT021980)
- hsa-miR-122-5p (MIRT023282)
- hsa-miR-1-3p (MIRT023802)
- hsa-miR-16-5p (MIRT031774)
- hsa-miR-484 (MIRT042255)
- hsa-miR-15b-5p (MIRT046468)
- hsa-miR-18a-5p (MIRT050738)
- hsa-miR-185-5p (MIRT174676)
- hsa-miR-4306 (MIRT174681)
- hsa-miR-1207-5p (MIRT382106)
- hsa-miR-4763-3p (MIRT382110)
- hsa-miR-550a-5p (MIRT409442)
- hsa-miR-550a-3-5p (MIRT409443)
- hsa-miR-1271-3p (MIRT409444)
- hsa-miR-550b-2-5p (MIRT409445)
- hsa-miR-6889-3p (MIRT409446)
- hsa-miR-125a-5p (MIRT437583)
- hsa-miR-4668-5p (MIRT481066)
- hsa-miR-766-5p (MIRT481067)
- hsa-miR-4533 (MIRT481068)
- hsa-miR-6722-3p (MIRT481069)
- hsa-miR-1909-3p (MIRT481070)
- hsa-miR-4490 (MIRT481071)
- hsa-miR-940 (MIRT481072)
- hsa-miR-6893-5p (MIRT481073)
- hsa-miR-6808-5p (MIRT481074)
- hsa-miR-6876-5p (MIRT481075)
- hsa-miR-4476 (MIRT481076)
- hsa-miR-6859-5p (MIRT481077)
- hsa-miR-3916 (MIRT481078)
- hsa-miR-3125 (MIRT481079)
- hsa-miR-6891-5p (MIRT481080)
- hsa-miR-3173-3p (MIRT481081)
- hsa-miR-4511 (MIRT481082)
- hsa-miR-582-3p (MIRT481083)
- hsa-miR-7-2-3p (MIRT481084)
- hsa-miR-7-1-3p (MIRT481085)
- hsa-miR-5688 (MIRT481086)
- hsa-miR-495-3p (MIRT481087)
- hsa-miR-583 (MIRT481088)
- hsa-miR-6773-5p (MIRT705279)
- hsa-miR-6724-5p (MIRT705280)
- hsa-miR-4792 (MIRT705281)
- hsa-miR-296-5p (MIRT705282)
- hsa-miR-4687-3p (MIRT705283)
- hsa-miR-7974 (MIRT705284)
- hsa-miR-4312 (MIRT705285)
- hsa-miR-4641 (MIRT705286)
- hsa-miR-1233-3p (MIRT705287)
- hsa-miR-1225-3p (MIRT705288)
- hsa-miR-6774-5p (MIRT705289)
- hsa-miR-635 (MIRT705290)
- hsa-miR-6504-5p (MIRT705291)
- hsa-miR-3064-5p (MIRT705292)
- hsa-miR-3189-3p (MIRT705293)
- hsa-miR-4726-3p (MIRT705294)
- hsa-miR-125a-3p (MIRT705295)
- hsa-miR-4712-3p (MIRT705296)
- hsa-miR-598-3p (MIRT705297)
- hsa-miR-30d-5p (MIRT728229)
- hsa-miR-30e-5p (MIRT728230)
- hsa-miR-30c-5p (MIRT728231)
- hsa-miR-30b-5p (MIRT728232)
- hsa-miR-30a-5p (MIRT728233)
- hsa-miR-19b-3p (MIRT728234)
- hsa-miR-19a-3p (MIRT728235)
- hsa-miR-195-5p (MIRT728236)
- hsa-miR-15a-5p (MIRT728237)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B4GALT1
- Browse OriGene Inhibitory RNA Products For B4GALT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT1
Clone products for research
- Applied Biological Materials (abm): Clones for B4GALT1 - Starting at $45 >
- * B4GALT1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for B4GALT1
- Addgene plasmids for B4GALT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALT1
Cell Lines for research
-
Horizon Cell Lines for B4GALT1
No data available for Transcription Factor Targets and HOMER Transcription for B4GALT1 Gene
Localization for B4GALT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for B4GALT1 Gene
- [Isoform Long]: Golgi apparatus, Golgi stack membrane. Single-pass type II membrane protein. Cell membrane. Single-pass type II membrane protein. Cell surface. Cell projection, filopodium. Note=Found in trans cisternae of Golgi but is mainly localized at the plasma membrane (PubMed:1714903). B4GALT1 cell surface expression is regulated by UBE2Q1 (By similarity). {ECO:0000250 UniProtKB:P15535, ECO:0000269 PubMed:1714903}.
- [Isoform Short]: Golgi apparatus, Golgi stack membrane. Single-pass type II membrane protein. Note=Found in trans cisternae of Golgi. {ECO:0000269 PubMed:1714903}.
- [Processed beta-1,4-galactosyltransferase 1]: Secreted. Note=Soluble form found in body fluids. {ECO:0000303 PubMed:2120039}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| golgi apparatus | 5 |
| extracellular | 4 |
| lysosome | 4 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| nucleus | 1 |
| endosome | 1 |
- Golgi apparatus (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000138 | Golgi trans cisterna | IDA | 6121819 |
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005615 | extracellular space | HDA | 16502470 |
| GO:0005794 | Golgi apparatus | IDA | 7744867 |
Pathways & Interactions for B4GALT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Keratan sulfate/keratin metabolism | ||
| 2 | Reproduction |
1.00
1.00
|
|
| 3 | Innate Immune System |
.61
|
|
| 4 | Galactose metabolism |
Galactose metabolism
.38
|
|
| 5 | Metabolism |
.40
|
|
Pathways by source for B4GALT1 Gene
22 Reactome pathways for B4GALT1 Gene
1 GeneGo (Thomson Reuters) pathway for B4GALT1 Gene
- Galactose metabolism
1 Qiagen pathway for B4GALT1 Gene
- Sperm Motility
UniProtKB/Swiss-Prot P15291-B4GT1_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for B4GALT1 Gene
GPS-Prot Interaction Network for B4GALT1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002064 | epithelial cell development | IEA | -- |
| GO:0002526 | acute inflammatory response | IEA | -- |
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0005989 | lactose biosynthetic process | IEA,TAS | -- |
| GO:0006012 | galactose metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for B4GALT1 Gene
Drugs & Compounds for B4GALT1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| N-Acetyl-D-glucosamine | Approved, Investigational | Nutra | Target | 0 | ||
| D-glucose | Approved, Experimental, Investigational, Vet_approved | Pharma | 0 | |||
| lactose | Approved, Experimental, Investigational | Pharma | 0 | |||
| Manganese | Approved | Nutra | 65 | |||
| Uridine diphosphategalactose | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| beta-Lactose |
|
5965-66-2 |
|
|||
| n-acetyllactosamine |
|
32181-59-2 |
|
Transcripts for B4GALT1 Gene
mRNA/cDNA for B4GALT1 Gene
- 4 REFSEQ mRNAs :
- 22 NCBI additional mRNA sequence :
- 2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000379731 4176 nts (view in UCSC)
- ENST00000535206 1535 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for B4GALT1 - Starting at $85 >
- * B4GALT1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for B4GALT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B4GALT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for B4GALT1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B4GALT1
- Browse OriGene Inhibitory RNA Products For B4GALT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT1
Clone products for research
- Applied Biological Materials (abm): Clones for B4GALT1 - Starting at $45 >
- * B4GALT1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for B4GALT1
- Addgene plasmids for B4GALT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALT1
Relevant External Links for B4GALT1 Gene
- GeneLoc Exon Structure for
- B4GALT1
Expression for B4GALT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
- Ovary (Reproductive System)
- Blood (Hematopoietic System)
-
Gall Bladder (Hepatobiliary System)
This gene is overexpressed in Milk (34.4) and Urine (16.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for B4GALT1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B4GALT1
SOURCE GeneReport for Unigene cluster for B4GALT1 Gene:
Hs.272011mRNA Expression by UniProt/SwissProt for B4GALT1 Gene:
P15291-B4GT1_HUMAN
Tissue specificity:
Ubiquitously expressed, but at very low levels in fetal and adult brain.
Evidence on tissue expression from TISSUES for B4GALT1 Gene
- Liver(4.6)
- Lung(3.2)
- Kidney(2.6)
- Intestine(2.6)
- Spleen(2.4)
- Heart(2.4)
- Blood(2.2)
- Nervous system(2.2)
- Bone marrow(2.2)
- Skin(2.2)
- Lymph node(2.1)
- Thyroid gland(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALT1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- head
- meninges
- skull
General:
- blood
- coagulation system
Primer products for research
-
OriGene qPCR primer pairs for B4GALT1
-
OriGene qPCR primer pairs and template standards for B4GALT1
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for B4GALT1 Gene
Orthologs for B4GALT1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | B4GALT1 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | B4GALT1 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | B4galt1 29 |
|
||
| Cow (Bos Taurus) |
Mammalia | B4GALT1 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | B4galt1 29 16 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | B4GALT1 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | B4GALT1 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | B4GALT1 29 |
|
||
| CKI 30 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | B4GALT1 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | b4galt1.1 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | zgc:154116 29 |
|
||
| B4GALT1 (2 of 2) 30 |
|
OneToMany | |||
| b4galt1 30 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | BcDNA:GH13356 31 |
|
|
|
| CG14517 31 |
|
|
|||
| beta4GalNAcTA 30 |
|
ManyToMany | |||
| beta4GalNAcTB 30 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | Y73E7A.7 31 |
|
|
|
| W02B12.11 31 |
|
|
|||
| bre-4 30 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
ManyToMany | |
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany | |||
| -- 30 |
|
ManyToMany |
- Species where no ortholog for B4GALT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for B4GALT1 Gene
- ENSEMBL:
- Gene Tree for B4GALT1 (if available)
- TreeFam:
- Gene Tree for B4GALT1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for B4GALT1: view image
- Alliance of Genome Resources:
- Additional Orthologs for B4GALT1
Paralogs for B4GALT1 Gene
Variants for B4GALT1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B4GALT1 Gene
| SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1031989 | Uncertain Significance: B4GALT1-CDG | 33,120,444(-) |
C/T NM_001497.4(B4GALT1):c.811G>A (p.Val271Ile) |
MISSENSE_VARIANT,INTRON | |
| 1038234 | Uncertain Significance: not provided | 33,120,455(-) |
C/T NM_001497.4(B4GALT1):c.800G>A (p.Arg267Gln) |
MISSENSE_VARIANT,INTRON | |
| 967178 | Uncertain Significance: not provided | 33,113,521(-) |
T/C NM_001497.4(B4GALT1):c.1130A>G (p.Gln377Arg) |
MISSENSE_VARIANT,INTRON | |
| 998093 | Pathogenic: B4GALT1-CDG | 33,135,258(-) |
G/C NM_001497.4(B4GALT1):c.579C>G (p.Tyr193Ter) |
NONSENSE | |
| 998094 | Uncertain Significance: B4GALT1-CDG | 33,167,109(-) |
G/A NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv4305e59 | CNV | tandem duplication | 20981092 |
| dgv7515n100 | CNV | gain | 25217958 |
| dgv7516n100 | CNV | gain | 25217958 |
| esv1668110 | CNV | insertion | 17803354 |
| esv2762813 | CNV | gain | 21179565 |
| esv3303944 | CNV | mobile element insertion | 20981092 |
| esv3308660 | CNV | mobile element insertion | 20981092 |
| esv3321590 | CNV | insertion | 20981092 |
| esv3324161 | CNV | duplication | 20981092 |
| esv3342329 | CNV | insertion | 20981092 |
| esv3351325 | CNV | insertion | 20981092 |
| esv3362596 | CNV | duplication | 20981092 |
| esv3573223 | CNV | loss | 25503493 |
| nsv1132979 | CNV | insertion | 24896259 |
| nsv1142551 | CNV | tandem duplication | 24896259 |
| nsv509299 | CNV | insertion | 20534489 |
| nsv519369 | CNV | gain | 19592680 |
| nsv527001 | CNV | loss | 19592680 |
| nsv614143 | CNV | gain | 21841781 |
| nsv6523 | CNV | deletion | 18451855 |
Residual Variation Intolerance Score:
39.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.39;
27.46% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for B4GALT1 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALT1 Gene
Disorders for B4GALT1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| congenital disorder of glycosylation, type iid |
|
|
| immunodeficiency 47 |
|
|
| congenital disorder of glycosylation, type iim |
|
|
| congenital disorder of glycosylation, type iif |
|
|
| tibialis tendinitis |
|
|
Search B4GALT1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
B4GT1_HUMAN- Congenital disorder of glycosylation 2D (CDG2D) [MIM:607091]: A multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. {ECO:0000269 PubMed:11901181}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for B4GALT1
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for B4GALT1 Gene
Publications for B4GALT1 Gene
- Oligosaccharide preferences of beta1,4-galactosyltransferase-I: crystal structures of Met340His mutant of human beta1,4-galactosyltransferase-I with a pentasaccharide and trisaccharides of the N-glycan moiety. (PMID: 16157350) Ramasamy V … Qasba PK (Journal of molecular biology 2005) 3 4 22 25
- Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. (PMID: 11901181) Hansske B … Körner C (The Journal of clinical investigation 2002) 3 4 72
- Golgi N-glycosyltransferases form both homo- and heterodimeric enzyme complexes in live cells. (PMID: 20378551) Hassinen A … Kellokumpu S (The Journal of biological chemistry 2010) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
- Deoxygenated disaccharide analogs as specific inhibitors of beta1-4-galactosyltransferase 1 and selectin-mediated tumor metastasis. (PMID: 19106107) Brown JR … Esko JD (The Journal of biological chemistry 2009) 3 4
ExternalLinks
Products for B4GALT1 Gene
- View all 5 R&D Systems B4GALT1 ("beta-1,4-Galactosyltransferase 1/B4GalT1") Products
- View all 2 R&D Systems B4GALT1 ("beta-1,4-Galactosyltransferase 1/B4GalT1") Proteins and Enzymes
- View all 3 R&D Systems B4GALT1 ("beta-1,4-Galactosyltransferase 1/B4GalT1") Primary Antibodies
- Learn more about R&D Systems custom B4GALT1 antibody, protein, and immunoassay development services
- Custom Antibody ServicesOriGene Antibodies for B4GALT1
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- Browse OriGene Inhibitory RNA Products For B4GALT1
- OriGene qPCR primer pairs for B4GALT1
- OriGene qPCR primer pairs and template standards for B4GALT1
- OriGene CRISPR knockouts for B4GALT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For B4GALT1
- Sino Biological Human cDNA Clone for B4GALT1
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- Sino Biological Antibodies for B4GALT1
- Sino Biological Assays for B4GALT1
- Browse Recombinant Proteins
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- Novus Biologicals proteins and lysates for B4GALT1
- Browse Antibodies
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- Invitrogen Antibodies for B4GALT1 (AFLGC-B4GALT1)
- VectorBuilder Custom and pre-made DNA vectors for B4GALT1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for B4GALT1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for B4GALT1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for B4GALT1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for B4GALT1
- Addgene plasmids for B4GALT1
- antibodies-online: Show 28 available B4GALT1 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for B4GALT1
- Search Santa Cruz Biotechnology (SCBT) for B4GALT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for B4GALT1
- Horizon Cell Lines for B4GALT1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B4GALT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALT1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for B4GALT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT1
Sources for B4GALT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
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- (84) PaxDb
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- (87) antibodies-online
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- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
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- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
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- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
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- (166)