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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]
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.
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 |
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Globo Sphingolipid Metabolism | ||
2 | Glycosphingolipid biosynthesis - lacto and neolacto series | ||
3 | Metabolism |
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 | -- |
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 |
|
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 |
|
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pancreatic cancer |
|
|
mood disorder |
|
|