Aliases for B3GNT5 Gene
Aliases for B3GNT5 Gene
- UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 5 2 3 5
- UDP-GlcNAc:Beta-Gal Beta-1,3-N-Acetylglucosaminyltransferase 5 3 4
- Lactosylceramide 1,3-N-Acetyl-Beta-D-Glucosaminyltransferase 2 3
- Beta-1,3-N-Acetylglucosaminyltransferase 5 3 4
- Lactotriaosylceramide Synthase 3 4
- Lc(3)Cer Synthase 3 4
- Beta-1,3-Gn-T5 3 4
- Lc3 Synthase 3 4
External Ids for B3GNT5 Gene
- HGNC: 15684
- Entrez Gene: 84002
- Ensembl: ENSG00000176597
- OMIM: 615333
- UniProtKB: Q9BYG0
Previous GeneCards Identifiers for B3GNT5 Gene
- GC03P179760
- GC03P183826
- GC03P184373
- GC03P184291
- GC03P184453
- GC03P182971
- GC03P180376
Summaries for B3GNT5 Gene
-
This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008]
GeneCards Summary for B3GNT5 Gene
B3GNT5 (UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 5) is a Protein Coding gene. Among its related pathways are O-linked glycosylation and Metabolism of proteins. GO annotations related to this gene include oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen and beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity. An important paralog of this gene is B3GNT7.
UniProtKB/Swiss-Prot for B3GNT5 Gene
-
Beta-1,3-N-acetylglucosaminyltransferase that plays a key role in the synthesis of lacto- or neolacto-series carbohydrate chains on glycolipids, notably by participating in biosynthesis of HNK-1 and Lewis X carbohydrate structures. Has strong activity toward lactosylceramide (LacCer) and neolactotetraosylceramide (nLc(4)Cer; paragloboside), resulting in the synthesis of Lc(3)Cer and neolactopentaosylceramide (nLc(5)Cer), respectively. Probably plays a central role in regulating neolacto-series glycolipid synthesis during embryonic development.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GNT5 Gene
Genomics for B3GNT5 Gene
Regulatory Elements for B3GNT5 Gene
Enhancers for B3GNT5 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around B3GNT5 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the B3GNT5 gene promoter:
Regulatory Element Products
Genomic Location for B3GNT5 Gene
- Chromosome:
- 3
- Start:
- 183,253,226 bp from pter
- End:
- 183,298,504 bp from pter
- Size:
- 45,279 bases
- Orientation:
- Plus strand
Genomic View for B3GNT5 Gene
Genes around B3GNT5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q27.1 by Ensembl
- 3q27.1 by Entrez Gene
- 3q27.1 by HGNC
B3GNT5 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 B3GNT5 Gene
Proteins for B3GNT5 Gene
-
Protein details for B3GNT5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BYG0-B3GN5_HUMAN
- Recommended name:
- Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase
- Protein Accession:
- Q9BYG0
- D3DNS5
- Q59FE3
- Q7L9Z5
- Q8WWP9
Protein attributes for B3GNT5 Gene
- Size:
- 378 amino acids
- Molecular mass:
- 44053 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAD92754.1; Type=Frameshift; Positions=347; Evidence={ECO:0000305};
Protein Expression for B3GNT5 Gene
Selected DME Specific Peptides for B3GNT5 Gene
- Q9BYG0:
-
- ISKGFFGQIYCR
- YPDYTAGA
- YIDDVFMG
- QDFWIGRVH
- PYHPCIY
- KSYSYRYL
- MMTSHGH
Post-translational modifications for B3GNT5 Gene
Other Protein References for B3GNT5 Gene
Antibody Products
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- Invitrogen Antibodies for B3GNT5
- antibodies-online Antibodies for B3GNT5: See all 28
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Protein Products
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Assay Products
Domains & Families for B3GNT5 Gene
Gene Families for B3GNT5 Gene
Protein Domains for B3GNT5 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for B3GNT5 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9BYG0- Family:
-
- Belongs to the glycosyltransferase 31 family.
Function for B3GNT5 Gene
Molecular function for B3GNT5 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = UDP + N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide.
- UniProtKB/Swiss-Prot Function:
- Beta-1,3-N-acetylglucosaminyltransferase that plays a key role in the synthesis of lacto- or neolacto-series carbohydrate chains on glycolipids, notably by participating in biosynthesis of HNK-1 and Lewis X carbohydrate structures. Has strong activity toward lactosylceramide (LacCer) and neolactotetraosylceramide (nLc(4)Cer; paragloboside), resulting in the synthesis of Lc(3)Cer and neolactopentaosylceramide (nLc(5)Cer), respectively. Probably plays a central role in regulating neolacto-series glycolipid synthesis during embryonic development.
- UniProtKB/Swiss-Prot Induction:
- Up-regulated by stimulation with retinoic acid and down-regulated with 12-O-tetradecanoylphorbol-13-acetate (TPA).
Enzyme Numbers (IUBMB) for B3GNT5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008378 | galactosyltransferase activity | IEA | -- |
| GO:0008457 | beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity | IDA | 11384981 |
| GO:0008499 | UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity | TAS | -- |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0016757 | transferase activity, transferring glycosyl groups | IEA | -- |
Phenotypes for B3GNT5 Gene
- MGI mutant phenotypes for B3GNT5:
- inferred from 5 alleles
- GenomeRNAi human phenotypes for B3GNT5:
-
- Increased vaccinia virus (VACV) infection
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability ratio
- Dynamic nuclei (hole, folded or small irregular)
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Increased shRNA abundance (Z-score > 2)
Animal Models for B3GNT5 Gene
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miRNA for B3GNT5 Gene
- miRTarBase miRNAs that target B3GNT5
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
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Horizon Cell Lines for B3GNT5
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Flow Cytometry Products
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for B3GNT5 Gene
Localization for B3GNT5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for B3GNT5 Gene
- Golgi apparatus membrane; Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| extracellular | 2 |
| nucleus | 2 |
| plasma membrane | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005622 | intracellular | IDA | 11384981 |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
Pathways & Interactions for B3GNT5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism of proteins | ||
| 2 | O-linked glycosylation | ||
| 3 | Glycosphingolipid biosynthesis - lacto and neolacto series | ||
| 4 | Metabolism | ||
Pathways by source for B3GNT5 Gene
4 Reactome pathways for B3GNT5 Gene
2 KEGG pathways for B3GNT5 Gene
UniProtKB/Swiss-Prot Q9BYG0-B3GN5_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for B3GNT5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006486 | protein glycosylation | IEA,TAS | 11384981 |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007417 | central nervous system development | IDA | 11384981 |
| GO:0007420 | brain development | IEA | -- |
| GO:0009247 | glycolipid biosynthetic process | TAS | 11384981 |
No data available for SIGNOR curated interactions for B3GNT5 Gene
Drugs & Compounds for B3GNT5 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-Dehydrosphinganine |
|
16105-69-4 |
|
|||
| 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 |
|
Transcripts for B3GNT5 Gene
mRNA/cDNA for B3GNT5 Gene
- (10) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (123) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for B3GNT5 Gene
CRISPR Products
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-
Santa Cruz Biotechnology (SCBT) CRISPR for B3GNT5
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miRNA Products
- Search ViGene Biosciences for B3GNT5
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for B3GNT5
- Browse OriGene Inhibitory RNA Products For B3GNT5
-
ViGene Biosciences ready-to-package AAV shRNAs for B3GNT5 gene
Clone Products
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- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for B3GNT5
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for B3GNT5
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||
| SP4: | - | - | - | - | - | - | |||||||||||||||
| SP5: | - | - | - | - | - |
Expression for B3GNT5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Brain (Nervous System)
- Eye (Sensory Organs)
- Adipose (Muscoskeletal System)
-
Colon (Gastrointestinal Tract)
-
Skeletal Muscle (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for B3GNT5 Gene
This gene is overexpressed in Esophagus - Mucosa (x5.3) and Muscle - Skeletal (x4.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for B3GNT5 Gene
NURSA nuclear receptor signaling pathways regulating expression of B3GNT5 Gene:
B3GNT5SOURCE GeneReport for Unigene cluster for B3GNT5 Gene:
Hs.718506mRNA Expression by UniProt/SwissProt for B3GNT5 Gene:
Q9BYG0-B3GN5_HUMAN
Tissue specificity:
Widely expressed. Highly expressed in lung, colon, placenta, testis, pituitary gland and cerebellum. Weakly expressed in brain, liver, spleen, lymph node and thymus.
Evidence on tissue expression from TISSUES for B3GNT5 Gene
- Nervous system(4.2)
Primer Products
-
OriGene qPCR primer pairs and template standards for B3GNT5
-
OriGene qPCR primer pairs for B3GNT5
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 B3GNT5 Gene
Orthologs for B3GNT5 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | B3GNT5 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | B3GNT5 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | B3GNT5 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | B3gnt5 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | B3gnt5 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | B3GNT5 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | B3GNT5 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | B3GNT5 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | B3GNT5 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | b3gnt5 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | b3gnt5a 34 35 |
|
||
| b3gnt5b 35 |
|
OneToMany |
- Species where no ortholog for B3GNT5 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)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (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)
Paralogs for B3GNT5 Gene
Paralogs for B3GNT5 Gene
(10) SIMAP similar genes for B3GNT5 Gene using alignment to 4 proteins:
Pseudogenes.org Pseudogenes for B3GNT5 Gene
Variants for B3GNT5 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000127211 | -- | 183,265,117(+) | ATAAT(G/T)TTTAC | intron-variant, upstream-variant-2KB | |
| rs1000350122 | -- | 183,255,695(+) | CAGAA(C/G)AGTTT | intron-variant, utr-variant-5-prime | |
| rs1000384316 | -- | 183,254,905(+) | CAGAG(A/G)CAATT | intron-variant, upstream-variant-2KB | |
| rs1000612932 | -- | 183,254,098(+) | TCGGC(C/T)GAGCG | intron-variant, upstream-variant-2KB, utr-variant-5-prime | |
| rs1000688159 | -- | 183,254,382(+) | CCGCC(C/T)TCTGA | intron-variant, upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2726288 | CNV | deletion | 23290073 |
| esv2726289 | CNV | deletion | 23290073 |
| esv3893833 | CNV | gain | 25118596 |
| nsv1006872 | CNV | loss | 25217958 |
| nsv1145008 | CNV | deletion | 24896259 |
Residual Variation Intolerance Score:
47.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.42;
27.83% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for B3GNT5 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- B3GNT5
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GNT5 Gene
Disorders for B3GNT5 Gene
Relevant External Links for B3GNT5
No disorders were found for B3GNT5 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for B3GNT5 Gene
Publications for B3GNT5 Gene
- Molecular cloning and characterization of UDP-GlcNAc:lactosylceramide beta 1,3-N-acetylglucosaminyltransferase (beta 3Gn-T5), an essential enzyme for the expression of HNK-1 and Lewis X epitopes on glycolipids. (PMID: 11283017) Togayachi A. … Narimatsu H. (J. Biol. Chem. 2001) 2 3 4 64
- A large-scale candidate gene association study of age at menarche and age at natural menopause. (PMID: 20734064) He C. … Hunter D.J. (Hum. Genet. 2010) 3 46 64
- Cloning of a mouse beta 1,3 N-acetylglucosaminyltransferase GlcNAc(beta 1,3)Gal(beta 1,4)Glc-ceramide synthase gene encoding the key regulator of lacto-series glycolipid biosynthesis. (PMID: 11384981) Henion T.R. … Hennet T. (J. Biol. Chem. 2001) 3 4 64
- High expression of lactotriaosylceramide, a differentiation-associated glycosphingolipid, in the bone marrow of acute myeloid leukemia patients. (PMID: 22411838) Wang Z. … Li Y. (Glycobiology 2012) 3 64
- Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3 64
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for B3GNT5 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
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