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GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found ... See more...
Aliases for B4GALNT1 Gene
Aliases for B4GALNT1 Gene
- Beta-1,4-N-Acetyl-Galactosaminyltransferase 1 2 3 5
- UDP-N-Acetyl-Alpha-D-Galactosamine:(N-Acetylneuraminyl)-Galactosylglucosylceramide N-Acetylgalactosaminyltransferase (GalNAc-T) 2 3
- UDP-Gal:BetaGlcNAc Beta-1,4-N-Acetylgalactosaminyltransferase Transferase 1 2 3
- Beta-1,4 N-Acetylgalactosaminyltransferase 1 3 4
- GD2 Synthase, GM2 Synthase 2 3
- GM2/GD2 Synthase 3 4
- EC 2.4.1.92 4 51
- GalNAc-T 3 4
- GALGT 3 4
External Ids for B4GALNT1 Gene
- HGNC: 4117
- Entrez Gene: 2583
- Ensembl: ENSG00000135454
- OMIM: 601873
- UniProtKB: Q00973
Previous HGNC Symbols for B4GALNT1 Gene
- GALGT
- SPG26
Previous GeneCards Identifiers for B4GALNT1 Gene
- GC12M056306
- GC12M058019
- GC12M055057
Summaries for B4GALNT1 Gene
-
GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
GeneCards Summary for B4GALNT1 Gene
B4GALNT1 (Beta-1,4-N-Acetyl-Galactosaminyltransferase 1) is a Protein Coding gene. Diseases associated with B4GALNT1 include Spastic Paraplegia 26, Autosomal Recessive and Spastic Paraplegia 26. Among its related pathways are Glycosphingolipid biosynthesis - ganglio series and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity and acetylgalactosaminyltransferase activity. An important paralog of this gene is B4GALNT2.
UniProtKB/Swiss-Prot Summary for B4GALNT1 Gene
-
Involved in the biosynthesis of gangliosides GM2, GD2, GT2 and GA2 from GM3, GD3, GT3 and GA3, respectively.
Additional gene information for B4GALNT1 Gene
- HGNC(4117)
- Entrez Gene(2583)
- Ensembl(ENSG00000135454)
- OMIM(601873)
- UniProtKB(Q00973)
- Open Targets Platform(ENSG00000135454)
- Monarch Initiative
- Search for B4GALNT1 at DataMed
- Search for B4GALNT1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B4GALNT1 Gene
Genomics for B4GALNT1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for B4GALNT1 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 B4GALNT1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B4GALNT1
- Top Transcription factor binding sites by QIAGEN in the B4GALNT1 gene promoter:
-
- AML1a
- c-Ets-1
- Cdc5
- En-1
- FOXD1
- GATA-2
- HEN1
- p53
- POU2F1
- POU2F1a
Genomic Locations for B4GALNT1 Gene
Genomic Locations for B4GALNT1 Gene
- chr12:57,623,409-57,633,239
- (GRCh38/hg38)
- Size:
- 9,831 bases
- Orientation:
- Minus strand
- chr12:58,017,193-58,027,138
- (GRCh37/hg19)
- Size:
- 9,946 bases
- Orientation:
- Minus strand
Genomic View for B4GALNT1 Gene
Genes around B4GALNT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q13.3 by HGNC
- 12q13.3 by Entrez Gene
- 12q13.3 by Ensembl
B4GALNT1 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 B4GALNT1 Gene
Proteins for B4GALNT1 Gene
-
Protein details for B4GALNT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q00973-B4GN1_HUMAN
- Recommended name:
- Beta-1,4 N-acetylgalactosaminyltransferase 1
- Protein Accession:
- Q00973
- B4DE26
- Q8N636
Protein attributes for B4GALNT1 Gene
- Size:
- 533 amino acids
- Molecular mass:
- 58882 Da
- Quaternary structure:
-
- Homodimer; disulfide-linked.
Protein Expression for B4GALNT1 Gene
Selected DME Specific Peptides for B4GALNT1 Gene
- Q00973:
-
- GVVNFFLA
- VGFDPRL
- MPFGKGWFAGRNLA
- SQVTTKYVLWVDDDF
Post-translational modifications for B4GALNT1 Gene
Other Protein References for B4GALNT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ B4GALNT1 Antibody
-
Custom Antibody ServicesOriGene Antibodies for B4GALNT1
- Novus Biologicals Antibodies for B4GALNT1
-
Abcam antibodies for B4GALNT1
- Invitrogen Antibodies for B4GALNT1 (AFLGC-B4GALNT1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for B4GALNT1
- Sino Biological Antibodies for B4GALNT1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for B4GALNT1
- Origene Custom Protein Services for B4GALNT1
- antibodies-online: Show 7 available B4GALNT1 Proteins ranked by validation data
- Compare Top B4GALNT1 Proteins
-
Quality Products:
-
Abcam proteins for B4GALNT1
Domains & Families for B4GALNT1 Gene
Gene Families for B4GALNT1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for B4GALNT1 Gene
- InterPro:
- Blocks:
-
- Glycosyl transferase, family 2
- ProtoNet:
Suggested Antigen Peptide Sequences for B4GALNT1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ55323, highly similar to Beta-1,4 N-acetylgalactosaminyltransferase 1 (EC 2.4.1.92) (B4DE26_HUMAN)
- GalNAc-T (B4GN1_HUMAN)
- Beta-1,4-N-acetyl-galactosaminyl transferase 1 isoform a (F8TDK4_HUMAN)
- Beta-1,4-N-acetyl-galactosaminyl transferase 1 isoform b (F8TDK5_HUMAN)
- Beta-1,4-N-acetyl-galactosaminyl transferase 1 isoform c (F8TDK6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q00973- Family:
-
- Belongs to the glycosyltransferase 2 family.
Function for B4GALNT1 Gene
Molecular function for B4GALNT1 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in the biosynthesis of gangliosides GM2, GD2, GT2 and GA2 from GM3, GD3, GT3 and GA3, respectively.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ganglioside GM3 (d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = ganglioside GM2 (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:12588, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:60065, ChEBI:CHEBI:67138, ChEBI:CHEBI:71502; EC=2.4.1.92; Evidence={ECO:0000269|PubMed:1601877, ECO:0000269|PubMed:7890749};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ganglioside GM3 + UDP-N-acetyl-alpha-D-galactosamine = ganglioside GM2 + H(+) + UDP; Xref=Rhea:RHEA:43268, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:79210, ChEBI:CHEBI:79218; Evidence={ECO:0000269|PubMed:7487055, ECO:0000269|PubMed:7890749};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ganglioside GD3 + UDP-N-acetyl-alpha-D-galactosamine = ganglioside GD2 + H(+) + UDP; Xref=Rhea:RHEA:43272, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:79214, ChEBI:CHEBI:79220; Evidence={ECO:0000269|PubMed:7487055, ECO:0000269|PubMed:7890749};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ganglioside GD3 (d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = ganglioside GD2 (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:41816, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:78436, ChEBI:CHEBI:78542; Evidence={ECO:0000269|PubMed:7890749};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = ganglioside GA2 (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:47564, ChEBI:CHEBI:15378, ChEBI:CHEBI:17950, ChEBI:CHEBI:27731, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138; Evidence={ECO:0000305|PubMed:7890749};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ganglioside GD1a + UDP-N-acetyl-alpha-D-galactosamine = H(+) + N-acetyl-beta-D-galactosaminyl-(1->4)-[N-acetyl-alpha-neuraminosyl-(2->3)]-beta-D-galactosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)-[N-acetyl-alpha-neuraminosyl-(2->3)]-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide + UDP; Xref=Rhea:RHEA:43276, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:82637, ChEBI:CHEBI:82945; Evidence={ECO:0000250|UniProtKB:Q10468};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ganglioside GT3 (d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = ganglioside GT2 (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:47580, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:78438, ChEBI:CHEBI:87788; Evidence={ECO:0000250|UniProtKB:Q10468};.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide + UDP-N-acetyl-alpha-D-galactosamine = H(+) + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1')-ceramide + UDP; Xref=Rhea:RHEA:62516, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:79208, ChEBI:CHEBI:90085; Evidence={ECO:0000269|PubMed:7890749};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=500 uM for GM3 {ECO:0000269|PubMed:7890749}; KM=40 uM for lactosylceramide {ECO:0000269|PubMed:7890749};
Enzyme Numbers (IUBMB) for B4GALNT1 Gene
Phenotypes From GWAS Catalog for B4GALNT1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003947 | (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity | TAS,IMP | 1601877 |
| GO:0008376 | acetylgalactosaminyltransferase activity | IEA,IBA | 21873635 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
| GO:0016758 | transferase activity, transferring hexosyl groups | IEA | -- |
Phenotypes for B4GALNT1 Gene
- MGI mutant phenotypes for B4GALNT1:
-
inferred from 2 alleles
- nervous system phenotype
- immune system phenotype
- respiratory system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- renal/urinary system phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- hematopoietic system phenotype
- GenomeRNAi human phenotypes for B4GALNT1:
Animal Models for B4GALNT1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for B4GALNT1 - Select products 50% OFF >
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OriGene CRISPR knockouts for B4GALNT1
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-
Santa Cruz Biotechnology (SCBT) CRISPR for B4GALNT1
miRNA for B4GALNT1 Gene
- miRTarBase miRNAs that target B4GALNT1
-
- mmu-miR-17-5p (MIRT009904)
- mmu-miR-9-5p (MIRT015295)
- hsa-miR-1827 (MIRT738082)
- hsa-miR-3612 (MIRT741549)
- hsa-miR-3660 (MIRT741980)
- hsa-miR-4293 (MIRT743768)
- hsa-miR-4526 (MIRT745941)
- hsa-miR-4645-3p (MIRT746405)
- hsa-miR-650 (MIRT752997)
- hsa-miR-6808-5p (MIRT756551)
- hsa-miR-6849-3p (MIRT757532)
- hsa-miR-6893-5p (MIRT758695)
- hsa-miR-940 (MIRT760792)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B4GALNT1
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Clone Products
- Applied Biological Materials (abm): Clones for B4GALNT1 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
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- MG208543
- MG208544
- MR208543
- MR208543L3
- MR208543L4
- MR208544
- MR208544L3
- MR208544L4
- MR228745
- MR228967
- RC212605
- RC212605L1
- RC212605L2
- RC212605L3
- RC212605L4
- RC233783
- RC234220
- RG212605
- RG233783
- RG234220
- RR200805
- RR200805L3
- RR200805L4
- MR208543L3V
- MR208543L4V
- MR208544L3V
- MR208544L4V
- RC212605L1V
- RC212605L2V
- RC212605L3V
- RC212605L4V
- RR200805L3V
- RR200805L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for B4GALNT1
- Addgene plasmids for B4GALNT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALNT1
Cell Line Products
-
Horizon Cell Lines for B4GALNT1
No data available for Transcription Factor Targets and HOMER Transcription for B4GALNT1 Gene
Localization for B4GALNT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for B4GALNT1 Gene
- Golgi apparatus membrane. Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| plasma membrane | 3 |
| extracellular | 2 |
| endoplasmic reticulum | 2 |
| lysosome | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | ISS | -- |
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0016020 | membrane | TAS | 1601877 |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for B4GALNT1 Gene
Pathways & Interactions for B4GALNT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Glycosphingolipid biosynthesis - ganglio series | ||
| 3 | Sphingolipid metabolism | ||
Pathways by source for B4GALNT1 Gene
1 BioSystems pathway for B4GALNT1 Gene
4 Reactome pathways for B4GALNT1 Gene
2 KEGG pathways for B4GALNT1 Gene
UniProtKB/Swiss-Prot Q00973-B4GN1_HUMAN
- Pathway: Sphingolipid metabolism.
Interacting Proteins for B4GALNT1 Gene
GPS-Prot Interaction Network for B4GALNT1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001574 | ganglioside biosynthetic process | IMP | 1601877 |
| GO:0005975 | carbohydrate metabolic process | TAS | 1601877 |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006665 | sphingolipid metabolic process | IEA | -- |
| GO:0006687 | glycosphingolipid metabolic process | TAS | -- |
No data available for SIGNOR curated interactions for B4GALNT1 Gene
Drugs & Compounds for B4GALNT1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Uridine 5'-diphosphate | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Ganglioside GA2 (d18:1/12:0) |
|
|
||||
| Ganglioside GA2 (d18:1/16:0) |
|
|
||||
| Ganglioside GA2 (d18:1/18:0) |
|
|
||||
| Ganglioside GA2 (d18:1/20:0) |
|
|
||||
| Ganglioside GA2 (d18:1/22:0) |
|
|
Transcripts for B4GALNT1 Gene
mRNA/cDNA for B4GALNT1 Gene
- 3 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000553142 5580 nts (view in UCSC)
- ENST00000341156 5368 nts (view in UCSC)
- ENST00000552468 2538 nts (view in UCSC)
- ENST00000418555 1861 nts (view in UCSC)
- ENST00000552798 1945 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for B4GALNT1 - Select products 50% OFF >
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miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for B4GALNT1 - Select products 50% OFF >
- * B4GALNT1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG208543
- MG208544
- MR208543
- MR208543L3
- MR208543L4
- MR208544
- MR208544L3
- MR208544L4
- MR228745
- MR228967
- RC212605
- RC212605L1
- RC212605L2
- RC212605L3
- RC212605L4
- RC233783
- RC234220
- RG212605
- RG233783
- RG234220
- RR200805
- RR200805L3
- RR200805L4
- MR208543L3V
- MR208543L4V
- MR208544L3V
- MR208544L4V
- RC212605L1V
- RC212605L2V
- RC212605L3V
- RC212605L4V
- RR200805L3V
- RR200805L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for B4GALNT1
- Addgene plasmids for B4GALNT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALNT1
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | · | 14c | ^ | 15a | · | 15b | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: |
| ExUns: | 15c |
|---|---|
| SP1: | |
| SP2: | |
| SP3: | |
| SP4: | |
| SP5: | |
| SP6: | |
| SP7: | |
| SP8: | |
| SP9: | |
| SP10: | |
| SP11: | |
| SP12: |
Relevant External Links for B4GALNT1 Gene
- GeneLoc Exon Structure for
- B4GALNT1
Expression for B4GALNT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Gut Tube (Gastrointestinal Tract)
-
Yolk Sac (Extraembryonic Tissues)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
-
Blood (Cardiovascular System)
- Definitive Hematopoietic Stem Cells Definitive Yolk Sac
-
Epiblast (Early Embryonic Tissues)
- Epiblast Cells Epiblast
- Bone (Muscoskeletal System)
- Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for B4GALNT1 Gene
This gene is overexpressed in Brain - Cerebellum (x6.0), Brain - Cerebellar Hemisphere (x5.9), Brain - Frontal Cortex (BA9) (x5.0), and Brain - Cortex (x4.9).
This gene is overexpressed in Bone (46.0), Liver (15.0), and Heart (8.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for B4GALNT1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B4GALNT1
SOURCE GeneReport for Unigene cluster for B4GALNT1 Gene:
Hs.159481Evidence on tissue expression from TISSUES for B4GALNT1 Gene
- Nervous system(4.8)
Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALNT1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- head
Thorax:
- diaphragm
- lung
- rib
- rib cage
Pelvis:
- pelvis
Limb:
- digit
- foot
- hand
- lower limb
- toe
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for B4GALNT1
-
OriGene qPCR primer pairs and template standards for B4GALNT1
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for B4GALNT1 Gene
Orthologs for B4GALNT1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | B4GALNT1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | GALGT 31 |
|
OneToOne | |
| B4GALNT1 30 |
|
||||
| Dog (Canis familiaris) |
Mammalia | B4GALNT1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | B4galnt1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | B4galnt1 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | B4GALNT1 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | B4GALNT1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | b4galnt1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC53523 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC793635 30 |
|
||
| B4GALNT1 (2 of 2) 31 |
|
OneToMany | |||
| b4galnt1a 31 |
|
OneToMany |
- Species where no ortholog for B4GALNT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- 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)
- Chicken (Gallus gallus)
- 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)
- Fruit Fly (Drosophila melanogaster)
- 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)
- Platypus (Ornithorhynchus anatinus)
- 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 Squirt (Ciona savignyi)
- 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)
- Worm (Caenorhabditis elegans)
Evolution for B4GALNT1 Gene
- ENSEMBL:
- Gene Tree for B4GALNT1 (if available)
- TreeFam:
- Gene Tree for B4GALNT1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for B4GALNT1: view image
Paralogs for B4GALNT1 Gene
(1) SIMAP similar genes for B4GALNT1 Gene using alignment to 15 proteins:
- B4GN1_HUMAN
- B4DE26_HUMAN
- B4DSP5_HUMAN
- F8TDK4_HUMAN
- F8TDK5_HUMAN
- F8TDK6_HUMAN
- F8TDK7_HUMAN
- F8VR44_HUMAN
- F8VSE0_HUMAN
- F8VU35_HUMAN
- F8VW33_HUMAN
- F8W1A7_HUMAN
- H0YHT1_HUMAN
- H0YI57_HUMAN
- Q8N636_HUMAN
Variants for B4GALNT1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B4GALNT1 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 639794 | Uncertain Significance: Spastic paraplegia | 57,630,495(-) | C/T | MISSENSE_VARIANT | |
| 645775 | Uncertain Significance: Spastic paraplegia | 57,631,323(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
| 648688 | Uncertain Significance: Spastic paraplegia | 57,627,624(-) | G/A | MISSENSE_VARIANT | |
| 652287 | Uncertain Significance: Spastic paraplegia | 57,629,059(-) | A/G | MISSENSE_VARIANT | |
| 653998 | Pathogenic: Spastic paraplegia | 57,631,291(-) | G/A | NONSENSE,INTRON_VARIANT |
Residual Variation Intolerance Score:
21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.48;
77.49% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for B4GALNT1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALNT1 Gene
Disorders for B4GALNT1 Gene
(8) MalaCards diseases for B4GALNT1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spastic paraplegia 26, autosomal recessive |
|
|
| spastic paraplegia 26 |
|
|
| paraplegia |
|
|
| complex hereditary spastic paraplegia |
|
|
| hereditary spastic paraplegia |
|
|
Search B4GALNT1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
B4GN1_HUMAN- Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG26 is a complicated form characterized by onset in the first 2 decades of life of gait abnormalities due to lower limb spasticity and muscle weakness. Some patients have upper limb involvement. Additional features include intellectual disability, peripheral neuropathy, dysarthria, cerebellar signs, extrapyramidal signs, and cortical atrophy. The disorder is slowly progressive. {ECO:0000269 PubMed:23746551}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for B4GALNT1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for B4GALNT1 Gene
Publications for B4GALNT1 Gene
- Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. (PMID: 23746551) Boukhris A … Stevanin G (American journal of human genetics 2013) 2 3 4
- Glycosyltransferase B4GALNT1 and type 1 diabetes in Croatian population: clinical investigation. (PMID: 19318031) Boraska V … Zemunik T (Clinical biochemistry 2009) 3 23 41
- Analysis of melanoma cells stably transfected with beta 1,4GalNAc transferase (GM2/GD2 synthase) cDNA: relative glycosyltransferase levels play a dominant role in determining ganglioside expression. (PMID: 7487055) Ruan S … Lloyd KO (Archives of biochemistry and biophysics 1995) 3 4 23
- Substrate specificity of beta 1,4-N-acetylgalactosaminyltransferase in vitro and in cDNA-transfected cells. GM2/GD2 synthase efficiently generates asialo-GM2 in certain cells. (PMID: 7890749) Yamashiro S … Furukawa K (The Journal of biological chemistry 1995) 3 4 23
- Expression cloning of beta 1,4 N-acetylgalactosaminyltransferase cDNAs that determine the expression of GM2 and GD2 gangliosides. (PMID: 1601877) Nagata Y … Furukawa K (The Journal of biological chemistry 1992) 2 3 4
ExternalLinks
Products for B4GALNT1 Gene
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Sources for B4GALNT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB