Free for academic non-profit institutions. Other users need a Commercial license
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. 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... See more...
Aliases for B4GALT6 Gene
Aliases for B4GALT6 Gene
- Beta-1,4-Galactosyltransferase 6 2 3 4 5
- UDP-Gal:Glucosylceramide Beta-1,4-Galactosyltransferase 2 3 4
- UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 6 3 4
- UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 6 2 3
- UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 6 3 4
- Glucosylceramide Beta-1,4-Galactosyltransferase 3 4
- Lactosylceramide Synthase 3 4
External Ids for B4GALT6 Gene
- HGNC: 929
- NCBI Entrez Gene: 9331
- Ensembl: ENSG00000118276
- OMIM®: 604017
- UniProtKB/Swiss-Prot: Q9UBX8
Previous GeneCards Identifiers for B4GALT6 Gene
- GC18M029226
- GC18M029022
- GC18M027455
- GC18M027457
- GC18M026059
Summaries for B4GALT6 Gene
-
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. 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. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. [provided by RefSeq, Jan 2020]
GeneCards Summary for B4GALT6 Gene
B4GALT6 (Beta-1,4-Galactosyltransferase 6) is a Protein Coding gene. Diseases associated with B4GALT6 include Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 and Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy. Among its related pathways are O-linked glycosylation and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and galactosyltransferase activity. An important paralog of this gene is B4GALT5.
UniProtKB/Swiss-Prot Summary for B4GALT6 Gene
-
Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (PubMed:3099851, PubMed:1551920, PubMed:24498430). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity).
Additional gene information for B4GALT6 Gene
- HGNC (929)
- NCBI Entrez Gene (9331)
- Ensembl (ENSG00000118276)
- OMIM® (604017)
- UniProtKB/Swiss-Prot (Q9UBX8)
- Open Targets Platform(ENSG00000118276)
- Monarch Initiative
- Search for B4GALT6 at DataMed
- Search for B4GALT6 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B4GALT6 Gene
Genomics for B4GALT6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for B4GALT6 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 B4GALT6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B4GALT6
- Top Transcription factor binding sites by QIAGEN in the B4GALT6 gene promoter:
-
- AhR
- CUTL1
- E47
- HFH-1
- POU2F1
- POU2F1a
- POU3F2
- POU3F2 (N-Oct-5a)
- POU3F2 (N-Oct-5b)
- RORalpha1
Genomic Locations for B4GALT6 Gene
Latest Assembly
- chr18:31,622,246-31,724,670
- (GRCh38/hg38)
- Size:
- 102,425 bases
- Orientation:
- Minus strand
Previous Assembly
- chr18:29,202,209-29,266,006
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 63,798 bases
- Orientation:
- Minus strand
- chr18:29,202,210-29,265,799
- (GRCh37/hg19 by Ensembl)
- Size:
- 63,590 bases
- Orientation:
- Minus strand
Genomic View for B4GALT6 Gene
Genes around B4GALT6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q12.1 by HGNC
- 18q12.1 by Entrez Gene
- 18q12.1 by Ensembl
B4GALT6 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 B4GALT6 Gene
Proteins for B4GALT6 Gene
-
Protein details for B4GALT6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UBX8-B4GT6_HUMAN
- Recommended name:
- Beta-1,4-galactosyltransferase 6
- Protein Accession:
- Q9UBX8
- O60514
- Q6NT09
Protein attributes for B4GALT6 Gene
- Size:
- 382 amino acids
- Molecular mass:
- 44914 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Quaternary structure:
- No Data Available
Protein Expression for B4GALT6 Gene
Post-translational modifications for B4GALT6 Gene
Other Protein References for B4GALT6 Gene
Antibodies for research
- G Biosciences Immunotag™ B4GALT6 Antibody
-
Custom Antibody ServicesOriGene Antibodies for B4GALT6
- Novus Biologicals Antibodies for B4GALT6
- Invitrogen Antibodies for B4GALT6 (AFLGC-B4GALT6)
-
Biorbyt antibodies for B4GALT6
-
Custom Antibody ServicesProSci Antibodies for B4GALT6
- Sino Biological Antibodies for B4GALT6
Protein products for research
-
OriGene Purified Proteins for B4GALT6
- Search Origene for MassSpec and Protein Over-expression Lysates for B4GALT6
- Origene Custom Protein Services for B4GALT6
- Novus Biologicals proteins for B4GALT6
Assay products for research
No data available for DME Specific Peptides for B4GALT6 Gene
Domains & Families for B4GALT6 Gene
Gene Families for B4GALT6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for B4GALT6 Gene
- InterPro:
- Blocks:
-
- Metazoa galactosyltransferase
- ProtoNet:
Suggested Antigen Peptide Sequences for B4GALT6 Gene
- GenScript: Design optimal peptide antigens:
-
- UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6 (B4GT6_HUMAN)
- UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase 6 (Q6NT00_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UBX8- Family:
-
- Belongs to the glycosyltransferase 7 family.
Function for B4GALT6 Gene
Molecular function for B4GALT6 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (PubMed:3099851, PubMed:1551920, PubMed:24498430). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation (By similarity).
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=a beta-D-glucosyl-(1<->1')-N-acylsphing-4-enine + UDP-alpha-D-galactose = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:31495, ChEBI:CHEBI:15378, ChEBI:CHEBI:17950, ChEBI:CHEBI:22801, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914; EC=2.4.1.274; Evidence={ECO:0000269|PubMed:1551920, ECO:0000269|PubMed:24498430, ECO:0000269|PubMed:3099851};.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=3 uM for glucosylceramide {ECO:0000269|PubMed:3099851}; KM=0.5 uM for UDP-galactose {ECO:0000269|PubMed:3099851}; Vmax=0.06 nmol/h/mg enzyme toward glucosylceramide {ECO:0000269|PubMed:3099851}; Vmax=86 nmol/h/mg enzyme toward UDP-galactose {ECO:0000269|PubMed:3099851};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by EDTA.
- GENATLAS Biochemistry:
- UDP galactose:beta-N-acetylglucosamine beta 1,4,galactosyltransferase 6,? expressed
Enzyme Numbers (IUBMB) for B4GALT6 Gene
Phenotypes From GWAS Catalog for B4GALT6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008378 | galactosyltransferase activity | IDA | 10320813 |
| GO:0008489 | UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity | ISS | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for B4GALT6 Gene
- MGI mutant phenotypes for B4GALT6:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for B4GALT6:
Animal Models for B4GALT6 Gene
- MGI Knock Outs for B4GALT6:
-
- B4galt6 B4galt6<tm1Kfk>
Animal Models for research
-
Taconic Biosciences Mouse Models for B4GALT6
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for B4GALT6 - Starting at $85 >
- * B4GALT6 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 B4GALT6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B4GALT6
-
Santa Cruz Biotechnology (SCBT) CRISPR for B4GALT6
miRNA for B4GALT6 Gene
- miRTarBase miRNAs that target B4GALT6
-
- mmu-miR-301b-3p (MIRT007927)
- mmu-miR-15a-5p (MIRT011708)
- mmu-miR-19b-3p (MIRT012444)
- mmu-miR-297a-5p (MIRT012989)
- mmu-miR-30e-5p (MIRT013375)
- hsa-miR-335-5p (MIRT018554)
- hsa-miR-215-5p (MIRT024717)
- hsa-miR-192-5p (MIRT026806)
- hsa-miR-190a-3p (MIRT079902)
- hsa-miR-3941 (MIRT198553)
- hsa-miR-4789-3p (MIRT198556)
- hsa-miR-5011-5p (MIRT198557)
- hsa-miR-205-5p (MIRT441130)
- mmu-miR-1187 (MIRT584653)
- mmu-miR-466a-5p (MIRT584654)
- mmu-miR-466p-5p (MIRT584655)
- mmu-miR-466e-5p (MIRT584656)
- mmu-miR-466l-5p (MIRT584657)
- mmu-miR-466i-5p (MIRT584658)
- mmu-miR-466d-5p (MIRT584659)
- mmu-miR-466k (MIRT584660)
- mmu-miR-466j (MIRT584661)
- mmu-miR-466h-5p (MIRT584662)
- mmu-miR-466n-5p (MIRT584663)
- mmu-miR-669m-5p (MIRT584664)
- mmu-miR-466m-5p (MIRT584665)
- mmu-miR-218-5p (MIRT584666)
- mmu-miR-466i-3p (MIRT584667)
- mmu-miR-3471 (MIRT601158)
- mmu-miR-3110-5p (MIRT601159)
- mmu-miR-5125 (MIRT601160)
- mmu-miR-1186a (MIRT605197)
- mmu-miR-1186b (MIRT605198)
- mmu-miR-1981-5p (MIRT605199)
- mmu-miR-1971 (MIRT605200)
- hsa-miR-6868-3p (MIRT660376)
- hsa-miR-9-3p (MIRT660377)
- hsa-miR-1248 (MIRT660378)
- hsa-miR-1237-3p (MIRT660379)
- hsa-miR-3667-3p (MIRT660380)
- hsa-miR-6734-3p (MIRT660381)
- hsa-miR-4789-5p (MIRT708189)
- hsa-miR-603 (MIRT708190)
- hsa-miR-362-3p (MIRT708191)
- hsa-miR-329-3p (MIRT708192)
- hsa-miR-8485 (MIRT708193)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B4GALT6
- Browse OriGene Inhibitory RNA Products For B4GALT6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT6
Clone products for research
- Applied Biological Materials (abm): Clones for B4GALT6 - Starting at $45 >
- * B4GALT6 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 B4GALT6
- Addgene plasmids for B4GALT6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALT6
Cell Lines for research
-
Horizon Cell Lines for B4GALT6
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for B4GALT6 Gene
Localization for B4GALT6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for B4GALT6 Gene
- Golgi apparatus, Golgi stack membrane. Single-pass type II membrane protein. Note=Trans cisternae of Golgi stack. {ECO:0000250 UniProtKB:P15291}.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| mitochondrion | 2 |
| cytosol | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | IEA,IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0032580 | Golgi cisterna membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for B4GALT6 Gene
Pathways & Interactions for B4GALT6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Sphingolipid metabolism | ||
| 3 | Transport to the Golgi and subsequent modification | ||
| 4 | Glycosaminoglycan metabolism | ||
| 5 | Keratan sulfate/keratin metabolism | ||
Pathways by source for B4GALT6 Gene
1 BioSystems pathway for B4GALT6 Gene
13 Reactome pathways for B4GALT6 Gene
2 KEGG pathways for B4GALT6 Gene
1 Qiagen pathway for B4GALT6 Gene
- Sperm Motility
UniProtKB/Swiss-Prot Q9UBX8-B4GT6_HUMAN
- Pathway: Protein modification; protein glycosylation.
- Pathway: Sphingolipid metabolism.
Interacting Proteins for B4GALT6 Gene
GPS-Prot Interaction Network for B4GALT6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001572 | lactosylceramide biosynthetic process | IDA | 10320813 |
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0006486 | protein glycosylation | IEA | -- |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006665 | sphingolipid metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for B4GALT6 Gene
Drugs & Compounds for B4GALT6 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-O-Sulfogalactosylceramide (d18:1/12:0) |
|
852100-88-0 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/14:0) |
|
|
||||
| 3-O-Sulfogalactosylceramide (d18:1/16:0) |
|
862509-48-6 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:0) |
|
244215-65-4 |
|
|||
| 3-O-Sulfogalactosylceramide (d18:1/18:1(9Z)) |
|
|
Transcripts for B4GALT6 Gene
mRNA/cDNA for B4GALT6 Gene
- 4 REFSEQ mRNAs :
- 10 NCBI additional mRNA sequence :
- 5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000237019 2128 nts (view in UCSC)
- ENST00000306851 3891 nts (view in UCSC)
- ENST00000383131 1239 nts (view in UCSC)
- ENST00000578114 4427 nts (view in UCSC)
- ENST00000579372 339 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for B4GALT6 - Starting at $85 >
- * B4GALT6 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 B4GALT6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B4GALT6
-
Santa Cruz Biotechnology (SCBT) CRISPR for B4GALT6
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B4GALT6
- Browse OriGene Inhibitory RNA Products For B4GALT6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT6
Clone products for research
- Applied Biological Materials (abm): Clones for B4GALT6 - Starting at $45 >
- * B4GALT6 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 B4GALT6
- Addgene plasmids for B4GALT6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALT6
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||
| SP4: | - | - |
Relevant External Links for B4GALT6 Gene
- GeneLoc Exon Structure for
- B4GALT6
Expression for B4GALT6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
-
Blood (Cardiovascular System)
- Double Negative 2 Thymocytes Thymus
- Conventional Dendritic Cells II Spleen
- Neural Tube (Nervous System)
-
Hair (Integumentary System)
- Fetal Matrix Cells Hair Follicle
-
Epithelial Cells
- Fetal Matrix Cells Hair Follicle
-
Thymus (Hematopoietic System)
- Double Negative 2 Thymocytes Thymus
- Spleen (Hematopoietic System)
- Gut Tube (Gastrointestinal Tract)
- Kidney (Urinary System)
mRNA differential expression in normal tissues according to GTEx for B4GALT6 Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.9), Brain - Frontal Cortex (BA9) (x4.4), and Brain - Anterior cingulate cortex (BA24) (x4.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for B4GALT6 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B4GALT6
SOURCE GeneReport for Unigene cluster for B4GALT6 Gene:
Hs.591063mRNA Expression by UniProt/SwissProt for B4GALT6 Gene:
Q9UBX8-B4GT6_HUMAN
Tissue specificity:
High expression in brain and adrenal gland, lower in liver, lung, colon and peripheral white blood cells.
Evidence on tissue expression from TISSUES for B4GALT6 Gene
- Nervous system(4.5)
- Lung(4.2)
Primer products for research
-
OriGene qPCR primer pairs for B4GALT6
-
OriGene qPCR primer pairs and template standards for B4GALT6
Gene Expression Assays for research
No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALT6 Gene
Orthologs for B4GALT6 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | B4GALT6 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | B4GALT6 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | B4GALT6 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | B4GALT6 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | B4galt6 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | B4galt6 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | B4GALT6 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | B4GALT6 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | B4GALT6 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | b4galt5 30 |
|
||
| Str.17604 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | b4galt6 30 31 |
|
OneToOne | |
| zgc55730 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | BcDNA:GH13356 32 |
|
|
|
| CG14517 32 |
|
|
|||
| beta4GalT7 31 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | W02B12.11 32 |
|
|
|
| sqv-3 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for B4GALT6 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 B4GALT6 Gene
- ENSEMBL:
- Gene Tree for B4GALT6 (if available)
- TreeFam:
- Gene Tree for B4GALT6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for B4GALT6: view image
Paralogs for B4GALT6 Gene
(5) SIMAP similar genes for B4GALT6 Gene using alignment to 5 proteins:
- B4GT6_HUMAN
- G3XA83_HUMAN
- J3QQY9_HUMAN
- Q6NT00_HUMAN
- Q6NT09_HUMAN
Variants for B4GALT6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B4GALT6 Gene
| SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs35210437 | Benign: not provided | 31,684,333(-) |
T/C NM_004775.4(B4GALT6):c.94A>G (p.Ile32Val) |
MISSENSE | |
| rs34683195 | - |
p.Ile379Val |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2577449 | CNV | deletion | 19546169 |
| esv2716936 | CNV | deletion | 23290073 |
| esv3642131 | CNV | loss | 21293372 |
| esv3893086 | CNV | gain | 25118596 |
| nsv1118784 | CNV | deletion | 24896259 |
| nsv819046 | CNV | loss | 19587683 |
Residual Variation Intolerance Score:
30.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.65;
45.63% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for B4GALT6 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- B4GALT6
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALT6 Gene
Disorders for B4GALT6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ehlers-danlos syndrome, spondylodysplastic type, 2 |
|
|
| spinal muscular atrophy with progressive myoclonic epilepsy |
|
|
| meester-loeys syndrome |
|
|
Search B4GALT6 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for B4GALT6
- Genetic Association Database
- (GAD)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for B4GALT6 Gene
Publications for B4GALT6 Gene
- cDNA cloning and expression of human lactosylceramide synthase. (PMID: 10320813) Takizawa M … Matsuo N (Biochimica et biophysica acta 1999) 3 4 23
- The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PMID: 9597550) Lo NW … Shaper NL (Glycobiology 1998) 2 3 4
- Establishment of HeLa cell mutants deficient in sphingolipid-related genes using TALENs. (PMID: 24498430) Yamaji T … Hanada K (PloS one 2014) 3 4
- Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PMID: 19451621) Landers JE … Brown RH (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 41
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
ExternalLinks
Products for B4GALT6 Gene
- Custom Antibody ServicesOriGene Antibodies for B4GALT6
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for B4GALT6
- Search Origene for MassSpec and Protein Over-expression Lysates for B4GALT6
- Origene Custom Protein Services for B4GALT6
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B4GALT6
- Browse OriGene Inhibitory RNA Products For B4GALT6
- OriGene qPCR primer pairs for B4GALT6
- OriGene qPCR primer pairs and template standards for B4GALT6
- OriGene CRISPR knockouts for B4GALT6
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For B4GALT6
- Sino Biological Human cDNA Clone for B4GALT6
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for B4GALT6
- Browse Sino Biological Assays
- Browse Antibodies
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for B4GALT6
- Novus Biologicals proteins for B4GALT6
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Taconic Biosciences Mouse Models for B4GALT6
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for B4GALT6 (AFLGC-B4GALT6)
- VectorBuilder Custom and pre-made DNA vectors for B4GALT6 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for B4GALT6 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for B4GALT6 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for B4GALT6 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for B4GALT6
- Addgene plasmids for B4GALT6
- antibodies-online: Show 12 available B4GALT6 Antibodies ranked by validation data
- Compare Top B4GALT6 Antibodies
- antibodies-online: Show 3 available B4GALT6 Elisa Kits ranked by validation data
- Compare Top B4GALT6 Elisa Kits
- antibodies-online: Show 6 available B4GALT6 Proteins ranked by validation data
- Compare Top B4GALT6 Proteins
- Custom Antibody ServicesProSci Antibodies for B4GALT6
- Search for B4GALT6 Proteins at ProSci
- Horizon Cell Lines for B4GALT6
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B4GALT6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALT6
- Search GeneCopoeia for miRNA 3'UTR Target clone products for B4GALT6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT6
- Biorbyt antibodies for B4GALT6
Sources for B4GALT6 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (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) MedlinePlus Genetics
- (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) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB