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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 B4GALT5 Gene
Aliases for B4GALT5 Gene
- Beta-1,4-Galactosyltransferase 5 2 3 4 5
- UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 5 3 4
- UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 5 3 4
- Glucosylceramide Beta-1,4-Galactosyltransferase 3 4
- Lactosylceramide Synthase 3 4
- Beta-1,4-GalTase 5 3 4
- Beta-1,4-GalT II 3 4
- LacCer Synthase 3 4
- Beta4-GalT IV 2 3
- Beta4Gal-T5 3 4
External Ids for B4GALT5 Gene
- HGNC: 928
- Entrez Gene: 9334
- Ensembl: ENSG00000158470
- OMIM: 604016
- UniProtKB: O43286
Previous GeneCards Identifiers for B4GALT5 Gene
- GC20M047977
- GC20M048887
- GC20M048935
- GC20M048936
- GC20M047682
- GC20M048249
- GC20M044999
Summaries for B4GALT5 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. The function of the enzyme encoded by this gene is not clear. This gene was previously designated as B4GALT4 but was renamed to B4GALT5. In the literature it is also referred to as beta4GalT2. [provided by RefSeq, Jul 2008]
GeneCards Summary for B4GALT5 Gene
B4GALT5 (Beta-1,4-Galactosyltransferase 5) is a Protein Coding gene. Diseases associated with B4GALT5 include Brain Stem Glioma. Among its related pathways are Metabolism of proteins and Sweet Taste Signaling. Gene Ontology (GO) annotations related to this gene include galactosyltransferase activity. An important paralog of this gene is B4GALT6.
UniProtKB/Swiss-Prot Summary for B4GALT5 Gene
-
Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (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). Plays a role in the glycosylation of BMPR1A and regulation of its protein stability (By similarity). Essential for extraembryonic development during early embryogenesis (By similarity).
Additional gene information for B4GALT5 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B4GALT5 Gene
Genomics for B4GALT5 Gene
GeneHancer (GH) Regulatory Elements for B4GALT5 Gene
Promoters and enhancers for B4GALT5 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 B4GALT5 on UCSC Golden Path with GeneCards custom track
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B4GALT5
- Top Transcription factor binding sites by QIAGEN in the B4GALT5 gene promoter:
-
- AP-4
- Egr-1
- HEN1
- HOXA9
- HOXA9B
- Meis-1b
- Pax-5
- PPAR-gamma1
- PPAR-gamma2
- Spz1
Genomic Locations for B4GALT5 Gene
Genomic Locations for B4GALT5 Gene
- chr20:49,632,945-49,713,884
- (GRCh38/hg38)
- Size:
- 80,940 bases
- Orientation:
- Minus strand
- chr20:48,249,482-48,330,421
- (GRCh37/hg19)
- Size:
- 80,940 bases
- Orientation:
- Minus strand
Genomic View for B4GALT5 Gene
Genes around B4GALT5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 20q13.13 by HGNC
- 20q13.13 by Entrez Gene
- 20q13.13 by Ensembl
B4GALT5 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 B4GALT5 Gene
Proteins for B4GALT5 Gene
-
Protein details for B4GALT5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O43286-B4GT5_HUMAN
- Recommended name:
- Beta-1,4-galactosyltransferase 5
- Protein Accession:
- O43286
- E1P625
- Q2M394
- Q9UJQ8
- U6C5D7
Protein attributes for B4GALT5 Gene
- Size:
- 388 amino acids
- Molecular mass:
- 45119 Da
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
- No Data Available
Protein Expression for B4GALT5 Gene
Post-translational modifications for B4GALT5 Gene
Other Protein References for B4GALT5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ B4GALT5 Antibody
- Creative Diagnostics Anti-B4GALT5 monoclonal antibody, clone 5C0
- Creative Biolabs Mouse Anti-B4GALT5 (N-Terminus) Recombinant Antibody (CBYY-0098)
- Novus Biologicals Antibodies for B4GALT5
-
Abcam antibodies for B4GALT5
- Invitrogen Antibodies for B4GALT5 (AFLGC-B4GALT5)
-
Biorbyt antibodies for B4GALT5
Protein Products
-
OriGene Purified Proteins for B4GALT5
- Search Origene for MassSpec and Protein Over-expression Lysates for B4GALT5
- Origene Custom Protein Services for B4GALT5
- Novus Biologicals proteins for B4GALT5
-
Abcam proteins for B4GALT5
Assay Products
- Aviva Systems Biology B4GALT5 ELISA Kit (Human) (OKEH01652)
- antibodies-online: Show 7 available B4GALT5 Elisa Kits ranked by validation data
- Compare Top B4GALT5 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for B4GALT5 Gene
Domains & Families for B4GALT5 Gene
Gene Families for B4GALT5 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for B4GALT5 Gene
- Blocks:
-
- Metazoa galactosyltransferase
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for B4GALT5 Gene
- GenScript: Design optimal peptide antigens:
-
- UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5 (B4GT5_HUMAN)
- Beta-1.4-galactosyltransferase V (Q7LFU8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O43286- Family:
-
- Belongs to the glycosyltransferase 7 family.
Function for B4GALT5 Gene
Molecular function for B4GALT5 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer) (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). Plays a role in the glycosylation of BMPR1A and regulation of its protein stability (By similarity). Essential for extraembryonic development during early embryogenesis (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=. ;.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated in subcutaneous adipose tissue during obesity and diabetes.
- GENATLAS Biochemistry:
- UDP galactose
Enzyme Numbers (IUBMB) for B4GALT5 Gene
Phenotypes From GWAS Catalog for B4GALT5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003945 | N-acetyllactosamine synthase activity | IEA | -- |
| GO:0008378 | galactosyltransferase activity | TAS | 9597550 |
| GO:0008489 | UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity | IMP | 24498430 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
Phenotypes for B4GALT5 Gene
- MGI mutant phenotypes for B4GALT5:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for B4GALT5:
-
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Synthetic lethal with Ras
- Mildly decreased CFP-tsO45G cell surface transport
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
- Decreased shRNA abundance
Animal Model Products
-
Taconic Biosciences Mouse Models for B4GALT5
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for B4GALT5 - Select products 50% OFF >
- * B4GALT5 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * B4GALT5 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for B4GALT5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B4GALT5
- genomics-online: gRNA clones - Search results for available B4GALT5 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for B4GALT5
miRNA for B4GALT5 Gene
- miRTarBase miRNAs that target B4GALT5
-
- hsa-mir-335-5p (MIRT018798)
- hsa-mir-124-3p (MIRT023032)
- hsa-mir-503-5p (MIRT041131)
- hsa-mir-29b-3p (MIRT048365)
- hsa-mir-152-3p (MIRT437640)
- hsa-mir-34a-5p (MIRT437746)
- hsa-mir-502-3p (MIRT437748)
- hsa-mir-205-5p (MIRT441131)
- hsa-mir-6796-5p (MIRT485751)
- hsa-mir-6763-5p (MIRT485752)
- hsa-mir-3150a-3p (MIRT485753)
- hsa-mir-6742-5p (MIRT485754)
- hsa-mir-4472 (MIRT485755)
- hsa-mir-4447 (MIRT485756)
- hsa-mir-3151-5p (MIRT485757)
- hsa-mir-491-5p (MIRT485758)
- hsa-mir-6881-5p (MIRT485759)
- hsa-mir-6825-5p (MIRT485760)
- hsa-mir-939-5p (MIRT485761)
- hsa-mir-1343-5p (MIRT485762)
- hsa-mir-3175 (MIRT485763)
- hsa-mir-8085 (MIRT485764)
- hsa-mir-6731-5p (MIRT485765)
- hsa-mir-4764-5p (MIRT485766)
- hsa-mir-4644 (MIRT485767)
- hsa-mir-4306 (MIRT485768)
- hsa-mir-185-5p (MIRT485769)
- hsa-mir-1273f (MIRT485770)
- hsa-mir-299-3p (MIRT485771)
- hsa-mir-1265 (MIRT485772)
- hsa-mir-6888-5p (MIRT485773)
- hsa-mir-2278 (MIRT485774)
- hsa-mir-4524b-3p (MIRT485775)
- hsa-mir-641 (MIRT485776)
- hsa-mir-3617-5p (MIRT485777)
- hsa-mir-561-5p (MIRT568339)
- hsa-mir-6830-5p (MIRT568340)
- hsa-mir-4495 (MIRT568341)
- hsa-mir-551b-5p (MIRT568342)
- hsa-mir-7844-5p (MIRT568343)
- hsa-mir-30a-5p (MIRT568344)
- hsa-mir-30b-5p (MIRT568345)
- hsa-mir-30c-5p (MIRT568346)
- hsa-mir-30d-5p (MIRT568347)
- hsa-mir-30e-5p (MIRT568348)
- hsa-mir-3941 (MIRT615122)
- hsa-mir-5195-5p (MIRT615123)
- hsa-mir-4789-3p (MIRT615124)
- hsa-mir-603 (MIRT615125)
- hsa-mir-362-3p (MIRT615126)
- hsa-mir-329-3p (MIRT615127)
- hsa-mir-8485 (MIRT615128)
- hsa-mir-139-3p (MIRT737542)
- hsa-mir-873-3p (MIRT760290)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B4GALT5
- Browse OriGene Inhibitory RNA Products For B4GALT5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT5
- genomics-online: shRNA clones - Search results for available B4GALT5 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for B4GALT5 - Select products 50% OFF >
- * B4GALT5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * B4GALT5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for B4GALT5
- Addgene plasmids for B4GALT5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALT5
- genomics-online: cdna clones - Search results for available B4GALT5 gene related products
- orf clones - Search results for available B4GALT5 gene related products
Cell Line Products
-
Horizon Cell Lines for B4GALT5
No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for B4GALT5 Gene
Localization for B4GALT5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for B4GALT5 Gene
- Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Golgi apparatus. Note=Trans cisternae of Golgi stack. {ECO:0000250 UniProtKB:P15291}.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| plasma membrane | 2 |
| cytosol | 2 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| 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 B4GALT5 Gene
Pathways & Interactions for B4GALT5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.40
|
|
| 2 | Transport to the Golgi and subsequent modification | ||
| 3 | Glycosaminoglycan metabolism | ||
| 4 | Keratan sulfate/keratin metabolism | ||
| 5 | Metabolism of proteins | ||
Pathways by source for B4GALT5 Gene
13 Reactome pathways for B4GALT5 Gene
2 KEGG pathways for B4GALT5 Gene
1 Qiagen pathway for B4GALT5 Gene
- Sperm Motility
UniProtKB/Swiss-Prot O43286-B4GT5_HUMAN
- Pathway: Protein modification; protein glycosylation.
- Pathway: Sphingolipid metabolism.
Interacting Proteins for B4GALT5 Gene
GPS-Prot Interaction Network for B4GALT5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0006486 | protein glycosylation | ISS | -- |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006665 | sphingolipid metabolic process | IEA | -- |
| GO:0010706 | ganglioside biosynthetic process via lactosylceramide | IEA,ISS | -- |
No data available for SIGNOR curated interactions for B4GALT5 Gene
Drugs & Compounds for B4GALT5 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Manganese | Approved | Nutra | 51 |
Transcripts for B4GALT5 Gene
mRNA/cDNA for B4GALT5 Gene
- 1 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000371711 4722 bps (ENST00000371711.4)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for B4GALT5 - Select products 50% OFF >
- * B4GALT5 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * B4GALT5 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for B4GALT5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B4GALT5
- genomics-online: gRNA clones - Search results for available B4GALT5 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for B4GALT5
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for B4GALT5
- Browse OriGene Inhibitory RNA Products For B4GALT5
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT5
- genomics-online: shRNA clones - Search results for available B4GALT5 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for B4GALT5 - Select products 50% OFF >
- * B4GALT5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * B4GALT5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for B4GALT5
- Addgene plasmids for B4GALT5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B4GALT5
- genomics-online: cdna clones - Search results for available B4GALT5 gene related products
- orf clones - Search results for available B4GALT5 gene related products
Relevant External Links for B4GALT5 Gene
- GeneLoc Exon Structure for
- B4GALT5
Expression for B4GALT5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
mRNA differential expression in normal tissues according to GTEx for B4GALT5 Gene
This gene is overexpressed in Whole Blood (x5.2).
This gene is overexpressed in Milk (24.6) and Urine (9.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for B4GALT5 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B4GALT5
SOURCE GeneReport for Unigene cluster for B4GALT5 Gene:
Hs.370487mRNA Expression by UniProt/SwissProt for B4GALT5 Gene:
O43286-B4GT5_HUMAN
Tissue specificity:
Ubiquitously expressed.
Evidence on tissue expression from TISSUES for B4GALT5 Gene
- Nervous system(4.7)
- Lung(4.6)
- Intestine(2.5)
- Lymph node(2.3)
- Heart(2.1)
Primer Products
-
OriGene qPCR primer pairs for B4GALT5
-
OriGene qPCR primer pairs and template standards for B4GALT5
- genomics-online: primer clones - Search results for available B4GALT5 gene related products
Gene Expression Assay Products
No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for B4GALT5 Gene
Orthologs for B4GALT5 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | B4GALT5 31 30 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | B4GALT5 31 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | B4GALT5 31 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | B4GALT5 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | B4GALT5 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | B4galt5 17 31 30 |
|
||
| chicken (Gallus gallus) |
Aves | B4GALT5 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | B4GALT5 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | b4galt6 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | b4galt5 31 30 |
|
ManyToMany | |
| fruit fly (Drosophila melanogaster) |
Insecta | BcDNA:GH13356 32 |
|
|
|
| CG14517 32 |
|
|
|||
| beta4GalT7 31 |
|
OneToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | W02B12.11 32 30 |
|
||
| Y73E7A.7 32 |
|
|
|||
| sqv-3 31 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for B4GALT5 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
- rat (Rattus norvegicus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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 B4GALT5 Gene
- ENSEMBL:
- Gene Tree for B4GALT5 (if available)
- TreeFam:
- Gene Tree for B4GALT5 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for B4GALT5: view image
Paralogs for B4GALT5 Gene
Variants for B4GALT5 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B4GALT5 Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs2273086 | - | p.Gly61Ser | |||
| rs235035 | - | p.Asp368Asn | |||
| rs35195217 | - | p.Tyr371Asp |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3646017 | CNV | gain | 21293372 |
| esv3646018 | CNV | gain | 21293372 |
| esv3646019 | CNV | loss | 21293372 |
| esv3646020 | CNV | gain | 21293372 |
| esv3646021 | CNV | gain | 21293372 |
| nsv1065418 | CNV | gain | 25217958 |
| nsv1065852 | CNV | loss | 25217958 |
| nsv819562 | CNV | loss | 19587683 |
| nsv954056 | CNV | duplication | 24416366 |
Residual Variation Intolerance Score:
51.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.15;
69.45% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for B4GALT5 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- B4GALT5
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALT5 Gene
Disorders for B4GALT5 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| brain stem glioma |
|
|
Search B4GALT5 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for B4GALT5
No data available for UniProtKB/Swiss-Prot and Genatlas for B4GALT5 Gene
Publications for B4GALT5 Gene
- The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PMID: 9597550) Lo NW … Shaper NL (Glycobiology 1998) 2 3 4 54
- Molecular cloning of a human cDNA encoding beta-1,4-galactosyltransferase with 37% identity to mammalian UDP-Gal:GlcNAc beta-1,4-galactosyltransferase. (PMID: 9435216) Sato T … Van Die I (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 54
- Downregulation of β1,4-galactosyltransferase 5 improves insulin resistance by promoting adipocyte commitment and reducing inflammation. (PMID: 29415997) Li SF … Li X (Cell death & disease 2018) 3 4 54
- Establishment of HeLa cell mutants deficient in sphingolipid-related genes using TALENs. (PMID: 24498430) Yamaji T … Hanada K (PloS one 2014) 3 4 54
- 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 54
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