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This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alternate promoters have been observed for this gene. [provided by RefSeq, Sep 2017] See more...
Aliases for B3GALT5 Gene
Aliases for B3GALT5 Gene
- Beta-1,3-Galactosyltransferase 5 2 3 4 5
- Beta3Gal-T5 2 3 4
- UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,3-Galactosyltransferase 5 3 4
- UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase, Polypeptide 5 2 3
- Homolog Of C. Elegans Bt Toxin Resistance Gene Bre-5 2 3
- Beta-1,3-GalTase 5 3 4
- Beta-3-Gx-T5 3 4
- B3GalT-V 2 3
- GLCT5 2 3
External Ids for B3GALT5 Gene
- HGNC: 920
- Entrez Gene: 10317
- Ensembl: ENSG00000183778
- OMIM: 604066
- UniProtKB: Q9Y2C3
Previous GeneCards Identifiers for B3GALT5 Gene
- GC21P037603
- GC21P039950
- GC21P039949
- GC21P039951
- GC21P040928
- GC21P026498
Summaries for B3GALT5 Gene
-
This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alternate promoters have been observed for this gene. [provided by RefSeq, Sep 2017]
GeneCards Summary for B3GALT5 Gene
B3GALT5 (Beta-1,3-Galactosyltransferase 5) is a Protein Coding gene. Diseases associated with B3GALT5 include Pancreatic Cancer and Mood Disorder. Among its related pathways are Glycosphingolipid biosynthesis - lacto and neolacto series and Metabolism. Gene Ontology (GO) annotations related to this gene include galactosyltransferase activity and UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity. An important paralog of this gene is B3GALT2.
UniProtKB/Swiss-Prot Summary for B3GALT5 Gene
-
Catalyzes the transfer of Gal to GlcNAc-based acceptors with a preference for the core3 O-linked glycan GlcNAc(beta1,3)GalNAc structure. Can use glycolipid LC3Cer as an efficient acceptor.
Additional gene information for B3GALT5 Gene
- HGNC(920)
- Entrez Gene(10317)
- Ensembl(ENSG00000183778)
- OMIM(604066)
- UniProtKB(Q9Y2C3)
- Open Targets Platform(ENSG00000183778)
- Monarch Initiative
- Search for B3GALT5 at DataMed
- Search for B3GALT5 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B3GALT5 Gene
Genomics for B3GALT5 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for B3GALT5 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH21J039656 | Promoter/Enhancer | 0.9 | EPDnew Ensembl ENCODE dbSUPER | 606 | +100.8 | 100786 | 1.8 | SCRT2 | B3GALT5 RF00994-605 piR-60331 lnc-IGSF5-3 IGSF5 ENSG00000225330 PCP4 | |
| GH21J039556 | Enhancer | 0.3 | Ensembl | 600.7 | -0.1 | -141 | 1 | RFX1 BMI1 | B3GALT5 lnc-SH3BGR-3 B3GALT5-AS1 LCA5L piR-42002-010 SH3BGR | |
| GH21J039608 | Promoter | 0.3 | EPDnew | 600.2 | +52.2 | 52182 | 0.1 | piR-43325-061 B3GALT5 B3GALT5-AS1 lnc-SH3BGR-5 IGSF5 | ||
| GH21J039673 | Enhancer | 1.4 | FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 23.1 | +119.0 | 119006 | 4.1 | SP1 CREB1 CTCF FOXA1 POLR2A SCRT2 MNT RELB RUNX3 CTBP1 | B3GALT5 B3GALT5-AS1 SH3BGR piR-60331 IGSF5 ENSG00000225330 LOC107985499 PCP4 | |
| GH21J039527 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 24 | -28.3 | -28341 | 2.6 | REST CTBP1 ZNF316 MAFF ESRRA MAFK PKNOX1 ZNF217 MAFG MIER1 | B3GALT5 LCA5L SH3BGR JCADP1 lnc-SH3BGR-1 piR-36588-257 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around B3GALT5 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B3GALT5
- Top Transcription factor binding sites by QIAGEN in the B3GALT5 gene promoter:
-
- ATF6
- c-Myc
- FOXL1
- Lmo2
- Max1
- p53
- RORalpha1
- RP58
- Sox9
- SRY
Genomic Locations for B3GALT5 Gene
Genomic Locations for B3GALT5 Gene
- chr21:39,556,442-39,673,137
- (GRCh38/hg38)
- Size:
- 116,696 bases
- Orientation:
- Plus strand
- chr21:40,928,369-41,045,064
- (GRCh37/hg19)
- Size:
- 116,696 bases
- Orientation:
- Plus strand
Genomic View for B3GALT5 Gene
Genes around B3GALT5 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.2 by HGNC
- 21q22.2 by Entrez Gene
- 21q22.2 by Ensembl
B3GALT5 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 B3GALT5 Gene
Proteins for B3GALT5 Gene
-
Protein details for B3GALT5 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y2C3-B3GT5_HUMAN
- Recommended name:
- Beta-1,3-galactosyltransferase 5
- Protein Accession:
- Q9Y2C3
- A8KA86
- D3DSI3
- Q2M3L5
- Q53Z19
- Q9NY96
- Q9P1X6
- Q9P1X7
Protein attributes for B3GALT5 Gene
- Size:
- 310 amino acids
- Molecular mass:
- 36189 Da
- Quaternary structure:
- No Data Available
Protein Expression for B3GALT5 Gene
Selected DME Specific Peptides for B3GALT5 Gene
- Q9Y2C3:
-
- TTRFFTG
- YLTELLLKKN
- AIRQTWG
- GALCLYFSM
- VMKTDSD
- IKLEDVFVGLCL
- PPFLVLLVTSSHKQLA
- FCSGTGY
Post-translational modifications for B3GALT5 Gene
Other Protein References for B3GALT5 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ B3GALT5 Antibody
-
Custom Antibody ServicesOriGene Antibodies for B3GALT5
- Novus Biologicals Antibodies for B3GALT5
-
Abcam antibodies for B3GALT5
- Invitrogen Antibodies for B3GALT5 (AFLGC-B3GALT5)
-
Biorbyt antibodies for B3GALT5
-
Boster Bio Antibodies for B3GALT5
Protein Products
-
OriGene Purified Proteins for B3GALT5
- Search Origene for MassSpec and Protein Over-expression Lysates for B3GALT5
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- Sino Biological Recombinant Proteins for B3GALT5
- Sino Biological Cell Lysates for B3GALT5
- antibodies-online: Show 14 available B3GALT5 Proteins ranked by validation data
- Compare Top B3GALT5 Proteins
-
Quality Products:
-
Abcam proteins for B3GALT5
Assay Products
Domains & Families for B3GALT5 Gene
Gene Families for B3GALT5 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for B3GALT5 Gene
- InterPro:
- Blocks:
-
- Glycosyl transferase, family 31
- ProtoNet:
Suggested Antigen Peptide Sequences for B3GALT5 Gene
- GenScript: Design optimal peptide antigens:
-
- UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 5 (B3GT5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y2C3- Family:
-
- Belongs to the glycosyltransferase 31 family.
Function for B3GALT5 Gene
Molecular function for B3GALT5 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the transfer of Gal to GlcNAc-based acceptors with a preference for the core3 O-linked glycan GlcNAc(beta1,3)GalNAc structure. Can use glycolipid LC3Cer as an efficient acceptor.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=globoside Gb4Cer (d18:1(4E)) + UDP-alpha-D-galactose = globoside GalGb4Cer (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:41996, ChEBI:CHEBI:15378, ChEBI:CHEBI:18259, ChEBI:CHEBI:58223, ChEBI:CHEBI:62571, ChEBI:CHEBI:66914; Evidence={ECO:0000269|PubMed:10406968, ECO:0000269|PubMed:10837462};.
- GENATLAS Biochemistry:
- UDP galactose : beta-N-acetylglutamine beta 1,3-galactosyltransferase,most probable candidate responsible for the synthesis of the type I Lewis antigen in gastrointestinal and pancreatic epithelia and tumor cells derived thereform. Key enzyme that determines the amount of type I Lewis antigen,including the sialyl Lewis a antigen
Enzyme Numbers (IUBMB) for B3GALT5 Gene
Phenotypes From GWAS Catalog for B3GALT5 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008375 | acetylglucosaminyltransferase activity | IBA | 21873635 |
| GO:0008376 | acetylgalactosaminyltransferase activity | IBA | 21873635 |
| GO:0008378 | galactosyltransferase activity | IEA | -- |
| GO:0008499 | UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity | TAS | -- |
| GO:0008532 | N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity | IBA | 21873635 |
Phenotypes for B3GALT5 Gene
- MGI mutant phenotypes for B3GALT5:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for B3GALT5:
Animal Models for B3GALT5 Gene
- MGI Knock Outs for B3GALT5:
-
- B3galt5 B3galt5<tm1Dgen>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for B3GALT5 - Select products 50% OFF >
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OriGene CRISPR knockouts for B3GALT5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B3GALT5
-
Santa Cruz Biotechnology (SCBT) CRISPR for B3GALT5
miRNA for B3GALT5 Gene
- miRTarBase miRNAs that target B3GALT5
-
- mmu-miR-362-5p (MIRT008985)
- mmu-miR-340-5p (MIRT010240)
- mmu-miR-15a-5p (MIRT011657)
- mmu-miR-149-5p (MIRT014532)
- hsa-miR-6780a-5p (MIRT487670)
- hsa-miR-6779-5p (MIRT487671)
- hsa-miR-3689c (MIRT487672)
- hsa-miR-3689b-3p (MIRT487673)
- hsa-miR-3689a-3p (MIRT487674)
- hsa-miR-30b-3p (MIRT487675)
- hsa-miR-1273h-5p (MIRT487676)
- hsa-miR-6799-5p (MIRT487677)
- hsa-miR-6825-5p (MIRT487678)
- hsa-miR-6883-5p (MIRT487679)
- hsa-miR-6785-5p (MIRT487680)
- hsa-miR-4728-5p (MIRT487681)
- hsa-miR-149-3p (MIRT487682)
- hsa-miR-7106-5p (MIRT487683)
- hsa-miR-4261 (MIRT487684)
- hsa-miR-6871-5p (MIRT487685)
- hsa-miR-6783-5p (MIRT487686)
- hsa-miR-6885-3p (MIRT527896)
- hsa-miR-3977 (MIRT527897)
- hsa-miR-1251-3p (MIRT527898)
- hsa-miR-7162-5p (MIRT527899)
- hsa-miR-516b-3p (MIRT527900)
- hsa-miR-516a-3p (MIRT527901)
- hsa-miR-2115-5p (MIRT527902)
- hsa-miR-7152-5p (MIRT527903)
- hsa-miR-3074-5p (MIRT527904)
- hsa-miR-1200 (MIRT527905)
- hsa-miR-378a-5p (MIRT527906)
- hsa-miR-4465 (MIRT527907)
- hsa-miR-26b-5p (MIRT527908)
- hsa-miR-26a-5p (MIRT527909)
- hsa-miR-1297 (MIRT527910)
- hsa-miR-4540 (MIRT527911)
- hsa-miR-6723-5p (MIRT527912)
- hsa-miR-4682 (MIRT527913)
- hsa-miR-544b (MIRT527914)
- hsa-miR-4324 (MIRT527915)
- hsa-miR-5697 (MIRT527916)
- mmu-miR-590-3p (MIRT595648)
- mmu-miR-677-5p (MIRT595649)
- mmu-miR-136-5p (MIRT595750)
- hsa-miR-6790-5p (MIRT610215)
- hsa-miR-4658 (MIRT610216)
- hsa-miR-3941 (MIRT610217)
- hsa-miR-644a (MIRT610218)
- hsa-miR-3659 (MIRT610219)
- hsa-miR-574-5p (MIRT610220)
- hsa-miR-622 (MIRT610221)
- hsa-miR-603 (MIRT610222)
- hsa-miR-362-3p (MIRT615470)
- hsa-miR-329-3p (MIRT615471)
- hsa-miR-8485 (MIRT615472)
- hsa-miR-6818-3p (MIRT624602)
- hsa-miR-6888-3p (MIRT624603)
- hsa-miR-376b-3p (MIRT624604)
- hsa-miR-376a-3p (MIRT624605)
- hsa-miR-593-3p (MIRT624606)
- hsa-miR-6895-3p (MIRT624607)
- hsa-miR-3120-5p (MIRT624608)
- hsa-miR-6739-3p (MIRT624609)
- hsa-miR-4677-5p (MIRT624610)
- hsa-miR-7156-5p (MIRT624611)
- hsa-miR-4273 (MIRT624612)
- hsa-miR-502-5p (MIRT624613)
- hsa-miR-22-5p (MIRT624614)
- hsa-miR-2116-5p (MIRT624615)
- hsa-miR-8064 (MIRT624616)
- hsa-miR-4693-3p (MIRT635299)
- hsa-miR-4712-3p (MIRT635300)
- hsa-miR-2681-5p (MIRT660393)
- hsa-miR-6720-5p (MIRT660394)
- hsa-miR-6512-3p (MIRT660395)
- hsa-miR-5100 (MIRT660396)
- hsa-miR-4777-3p (MIRT660397)
- hsa-miR-6758-3p (MIRT660398)
- hsa-miR-4267 (MIRT660399)
- hsa-miR-10b-3p (MIRT660400)
- hsa-miR-892c-5p (MIRT660401)
- hsa-miR-141-5p (MIRT660402)
- hsa-miR-566 (MIRT662532)
- hsa-miR-6789-3p (MIRT662533)
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for B3GALT5 - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG204357
- MG216786
- MR204357
- MR204357L3
- MR204357L4
- MR216786
- MR216786L3
- MR216786L4
- RC211183
- RC211183L3
- RC211183L4
- RC213317
- RC213317L3
- RC213317L4
- RC214669
- RC214669L3
- RC214669L4
- RC214721
- RC214721L3
- RC214721L4
- RC215430
- RC215430L3
- RC215430L4
- RC237364
- RG211183
- RG213317
- RG214669
- RG214721
- RG215430
- RR206042
- RR206042L3
- RR206042L4
- MR204357L3V
- MR204357L4V
- MR216786L3V
- MR216786L4V
- RC211183L3V
- RC211183L4V
- RC213317L3V
- RC213317L4V
- RC214669L3V
- RC214669L4V
- RC214721L3V
- RC214721L4V
- RC215430L3V
- RC215430L4V
- RR206042L3V
- RR206042L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for B3GALT5
- Addgene plasmids for B3GALT5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B3GALT5
Cell Line Products
-
Horizon Cell Lines for B3GALT5
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for B3GALT5 Gene
Localization for B3GALT5 Gene
Subcellular locations from UniProtKB/Swiss-Prot for B3GALT5 Gene
- Golgi apparatus membrane. Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| endoplasmic reticulum | 4 |
| extracellular | 3 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | IEA | -- |
| GO:0005783 | endoplasmic reticulum | IBA,HDA | 16780588 |
| GO:0005794 | Golgi apparatus | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for B3GALT5 Gene
Pathways & Interactions for B3GALT5 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Globo Sphingolipid Metabolism | ||
| 2 | Glycosphingolipid biosynthesis - lacto and neolacto series | ||
| 3 | Metabolism | ||
Pathways by source for B3GALT5 Gene
1 BioSystems pathway for B3GALT5 Gene
3 KEGG pathways for B3GALT5 Gene
UniProtKB/Swiss-Prot Q9Y2C3-B3GT5_HUMAN
- Pathway: Protein modification; protein glycosylation.
Interacting Proteins for B3GALT5 Gene
Selected Interacting proteins:
Q9Y2C3-B3GT5_HUMAN
ENSP00000381699
for B3GALT5 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for B3GALT5
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006486 | protein glycosylation | TAS,IBA | 21873635 |
| GO:0006487 | protein N-linked glycosylation | IBA | -- |
| GO:0006493 | protein O-linked glycosylation | IBA | -- |
| GO:0009312 | oligosaccharide biosynthetic process | IBA | -- |
| GO:0009617 | response to bacterium | IEA | -- |
No data available for SIGNOR curated interactions for B3GALT5 Gene
Drugs & Compounds for B3GALT5 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Phytosphingosine | Experimental | Pharma | 0 | |||
| Sphingosine | Experimental | Pharma | 0 | |||
| sphinganine | Pharma | 0 | ||||
| Sphingosine-1-phosphate | Pharma | Agonist, Full agonist | endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 | 0 |
| 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 B3GALT5 Gene
mRNA/cDNA for B3GALT5 Gene
- 9 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000380620 13170 nts (view in UCSC)
- ENST00000475838 658 nts (view in UCSC)
- ENST00000380618 2763 nts (view in UCSC)
- ENST00000398714 2341 nts (view in UCSC)
- ENST00000615480 2617 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for B3GALT5 - Select products 50% OFF >
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-
OriGene CRISPR knockouts for B3GALT5
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for B3GALT5
-
Santa Cruz Biotechnology (SCBT) CRISPR for B3GALT5
miRNA Products
Inhibitory RNA Products
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Clone Products
- Applied Biological Materials (abm): Clones for B3GALT5 - Select products 50% OFF >
- * B3GALT5 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
-
- MG204357
- MG216786
- MR204357
- MR204357L3
- MR204357L4
- MR216786
- MR216786L3
- MR216786L4
- RC211183
- RC211183L3
- RC211183L4
- RC213317
- RC213317L3
- RC213317L4
- RC214669
- RC214669L3
- RC214669L4
- RC214721
- RC214721L3
- RC214721L4
- RC215430
- RC215430L3
- RC215430L4
- RC237364
- RG211183
- RG213317
- RG214669
- RG214721
- RG215430
- RR206042
- RR206042L3
- RR206042L4
- MR204357L3V
- MR204357L4V
- MR216786L3V
- MR216786L4V
- RC211183L3V
- RC211183L4V
- RC213317L3V
- RC213317L4V
- RC214669L3V
- RC214669L4V
- RC214721L3V
- RC214721L4V
- RC215430L3V
- RC215430L4V
- RR206042L3V
- RR206042L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for B3GALT5
- Addgene plasmids for B3GALT5
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for B3GALT5
Relevant External Links for B3GALT5 Gene
- GeneLoc Exon Structure for
- B3GALT5
Expression for B3GALT5 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Pre-Granulosa Cells Primordial Follicle
- Granulosa Cells Primary Follicle
- Oviduct
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Cerebral Cortex
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Intestine (Gastrointestinal Tract)
-
Colon (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for B3GALT5 Gene
This gene is overexpressed in Colon - Transverse (x15.7) and Small Intestine - Terminal Ileum (x10.1).
This gene is overexpressed in Heart (47.9) and Colon (21.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for B3GALT5 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B3GALT5
SOURCE GeneReport for Unigene cluster for B3GALT5 Gene:
Hs.733638mRNA Expression by UniProt/SwissProt for B3GALT5 Gene:
Q9Y2C3-B3GT5_HUMAN
Tissue specificity:
Expressed in stomach, jejunum, colon, pancreas, small intestine, testis and gastrointestinal and pancreatic cancer cell lines. Hardly detected in lung, liver, adrenal gland and peripheral blood leukocytes.
Evidence on tissue expression from TISSUES for B3GALT5 Gene
- Intestine(4.5)
Primer Products
-
OriGene qPCR primer pairs for B3GALT5
-
OriGene qPCR primer pairs and template standards for B3GALT5
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GALT5 Gene
Orthologs for B3GALT5 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | B3GALT5 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | B3GALT5 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | B3GALT5 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | B3galt5 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | B3galt5 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | B3GALT5 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | B3GALT5 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | B3GALT5 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100495133 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.16252 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | CR759791.2 31 |
|
ManyToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG8673 30 |
|
||
| CG8668 32 |
|
|
|||
| brn 32 |
|
|
|||
| Rice (Oryza sativa) |
Liliopsida | Os02g0577300 30 |
|
- Species where no ortholog for B3GALT5 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)
- 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 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 B3GALT5 Gene
- ENSEMBL:
- Gene Tree for B3GALT5 (if available)
- TreeFam:
- Gene Tree for B3GALT5 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for B3GALT5: view image
Paralogs for B3GALT5 Gene
Paralogs for B3GALT5 Gene
(9) SIMAP similar genes for B3GALT5 Gene using alignment to 1 proteins:
- B3GT5_HUMAN
Variants for B3GALT5 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B3GALT5 Gene
| SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs12627708 | - | p.Ser27Arg | |||
| rs3746887 | - | p.Met85Thr | |||
| rs734411 | - | p.Arg144His |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv27418 | CNV | gain | 19812545 |
| esv3568195 | CNV | loss | 25503493 |
| esv3647020 | CNV | gain | 21293372 |
| esv3647022 | CNV | loss | 21293372 |
| esv3647023 | CNV | loss | 21293372 |
| nsv1061454 | CNV | gain | 25217958 |
| nsv587484 | CNV | loss | 21841781 |
| nsv587485 | CNV | loss | 21841781 |
Residual Variation Intolerance Score:
29.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.04;
21.32% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for B3GALT5 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- B3GALT5
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GALT5 Gene
Disorders for B3GALT5 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| pancreatic cancer |
|
|
| mood disorder |
|
|
Search B3GALT5 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for B3GALT5
- 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 UniProtKB/Swiss-Prot and Genatlas for B3GALT5 Gene
Publications for B3GALT5 Gene
- Cloning, expression, and characterization of a novel UDP-galactose:beta-N-acetylglucosamine beta1,3-galactosyltransferase (beta3Gal-T5) responsible for synthesis of type 1 chain in colorectal and pancreatic epithelia and tumor cells derived therefrom. (PMID: 10212226) Isshiki S … Narimatsu H (The Journal of biological chemistry 1999) 2 3 4 23
- Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept. (PMID: 19567891) Hamshere ML … Craddock N (The British journal of psychiatry : the journal of mental science 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
- An endogenous retroviral long terminal repeat is the dominant promoter for human beta1,3-galactosyltransferase 5 in the colon. (PMID: 14534330) Dunn CA … Mager DL (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4
- Lewis type 1 antigen synthase (beta3Gal-T5) is transcriptionally regulated by homeoproteins. (PMID: 12855703) Isshiki S … Narimatsu H (The Journal of biological chemistry 2003) 3 23
ExternalLinks
Products for B3GALT5 Gene
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Sources for B3GALT5 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
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- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
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- (75) Invitrogen
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