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Aliases for B3GALT5 Gene

Aliases for B3GALT5 Gene

  • Beta-1,3-Galactosyltransferase 5 2 3 5
  • 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
  • Beta3Gal-T5 3 4
  • UDP-Gal:Beta-GlcNAc Beta-1,3-Galactosyltransferase 5 4
  • UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase 5 2
  • GlcNAc-Beta-1,3-Galactosyltransferase 5 2
  • Beta3GalT5 4
  • EC 2.4.1.- 4
  • B3GalT-V 3
  • B3Gal-T5 4
  • EC 2.4.1 56
  • B3GalTx 3
  • GLCT5 3
  • B3T5 3

External Ids for B3GALT5 Gene

Previous GeneCards Identifiers for B3GALT5 Gene

  • GC21P037603
  • GC21P039950
  • GC21P039949
  • GC21P039951
  • GC21P040928
  • GC21P026498

Summaries for B3GALT5 Gene

Entrez Gene Summary 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. Among its related pathways are Globo Sphingolipid Metabolism 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 B3GALT1.

UniProtKB/Swiss-Prot 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.

Gene Wiki entry for B3GALT5 Gene

Additional gene information for B3GALT5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GALT5 Gene

Genomics for B3GALT5 Gene

GeneHancer (GH) Regulatory Elements for B3GALT5 Gene

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
GH21I039610 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 555.7 +55.6 55607 3.1 ZSCAN4 KLF17 SIN3A ZNF335 GLIS2 ZNF366 ZNF143 EGR2 ELF1 ZNF518A B3GALT5-AS1 B3GALT5 LCA5L PCP4 SH3BGR PIR53138
GH21I039630 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 561 +76.1 76127 5 CTCF JUN SP1 JUND ATF4 ZNF692 CREB1 FOS FOSL2 B3GALT5 GC21P039633 B3GALT5-AS1 ENSG00000225330
GH21I039656 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 556 +100.8 100786 1.8 GATA3 SCRT2 B3GALT5 PIR55330 GC21P039633 ENSG00000225330
GH21I039673 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 23.1 +119.2 119183 3.7 CTCF ESRRA CLOCK FOXA2 BATF CTBP1 GATA3 POLR2A SCRT2 RCOR1 B3GALT5 B3GALT5-AS1 SH3BGR PIR55330 ENSG00000225330 IGSF5
GH21I039527 Enhancer 1.1 Ensembl ENCODE dbSUPER 24 -28.1 -28134 1.3 PKNOX1 ESRRA NFIB ZFHX2 CTBP1 GATA3 VEZF1 NR2F6 EGR2 RXRA B3GALT5 LCA5L LOC729056
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around B3GALT5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B3GALT5 gene promoter:

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)

Genomic View for B3GALT5 Gene

Genes around B3GALT5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GALT5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GALT5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

neXtProt entry 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

  • Glycosylation at posLast=130130, posLast=174174, and Asn231
  • Modification sites at PhosphoSitePlus

Domains & Families for B3GALT5 Gene

Gene Families for B3GALT5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for B3GALT5 Gene

Suggested Antigen Peptide Sequences for B3GALT5 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2C3

UniProtKB/Swiss-Prot:

B3GT5_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GALT5: view

Function for B3GALT5 Gene

Molecular function for B3GALT5 Gene

GENATLAS Biochemistry:
UDP galactose
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.

Enzyme Numbers (IUBMB) for B3GALT5 Gene

Phenotypes From GWAS Catalog for B3GALT5 Gene

Gene Ontology (GO) - Molecular Function for B3GALT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008378 galactosyltransferase activity IEA --
GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity TAS 10212226
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with B3GALT5: view
genes like me logo Genes that share phenotypes with B3GALT5: view

Animal Models for B3GALT5 Gene

MGI Knock Outs for B3GALT5:

Animal Model Products

miRNA for B3GALT5 Gene

miRTarBase miRNAs that target B3GALT5

Clone Products

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for B3GALT5 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
extracellular 3

Gene Ontology (GO) - Cellular Components for B3GALT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum HDA,IDA 16780588
GO:0005794 Golgi apparatus IEA,HDA 16780588
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B3GALT5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B3GALT5 Gene

Pathways & Interactions for B3GALT5 Gene

genes like me logo Genes that share pathways with B3GALT5: view

Pathways by source for B3GALT5 Gene

UniProtKB/Swiss-Prot Q9Y2C3-B3GT5_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B3GALT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation TAS,IEA --
genes like me logo Genes that share ontologies with B3GALT5: view

No data available for SIGNOR curated interactions for B3GALT5 Gene

Drugs & Compounds for B3GALT5 Gene

(3) Drugs for B3GALT5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
sphingosine 1-phosphate Pharma Full agonist, Agonist 0

(462) Additional Compounds for B3GALT5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with B3GALT5: view

Transcripts for B3GALT5 Gene

Unigene Clusters for B3GALT5 Gene

UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B3GALT5 Gene

No ASD Table

Relevant External Links for B3GALT5 Gene

GeneLoc Exon Structure for
B3GALT5
ECgene alternative splicing isoforms for
B3GALT5

Expression for B3GALT5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B3GALT5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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).

Protein differential expression in normal tissues from HIPED for B3GALT5 Gene

This gene is overexpressed in Heart (47.9) and Colon (21.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for B3GALT5 Gene



Protein tissue co-expression partners for B3GALT5 Gene

NURSA nuclear receptor signaling pathways regulating expression of B3GALT5 Gene:

B3GALT5

SOURCE GeneReport for Unigene cluster for B3GALT5 Gene:

Hs.733638

mRNA 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(4.4)
genes like me logo Genes that share expression patterns with B3GALT5: view

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.

Orthologs for B3GALT5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B3GALT5 33 34
  • 98.41 (n)
dog
(Canis familiaris)
Mammalia B3GALT5 33 34
  • 78.17 (n)
cow
(Bos Taurus)
Mammalia B3GALT5 33 34
  • 75.65 (n)
rat
(Rattus norvegicus)
Mammalia B3galt5 33
  • 75.35 (n)
mouse
(Mus musculus)
Mammalia B3galt5 33 16 34
  • 74.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia B3GALT5 34
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B3GALT5 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves B3GALT5 33 34
  • 61.87 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 57 (a)
OneToMany
-- 34
  • 51 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495133 33
  • 60.42 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16252 33
zebrafish
(Danio rerio)
Actinopterygii CR759791.2 34
  • 30 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8673 33
  • 49.78 (n)
CG8668 35
  • 35 (a)
brn 35
  • 33 (a)
rice
(Oryza sativa)
Liliopsida Os02g0577300 33
  • 41.28 (n)
Species where no ortholog for B3GALT5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Evolution for B3GALT5 Gene

ENSEMBL:
Gene Tree for B3GALT5 (if available)
TreeFam:
Gene Tree for B3GALT5 (if available)

Paralogs for B3GALT5 Gene

(9) SIMAP similar genes for B3GALT5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with B3GALT5: view

Variants for B3GALT5 Gene

Sequence variations from dbSNP and Humsavar for B3GALT5 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000052312 -- 39,637,787(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000112770 -- 39,636,533(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000126124 -- 39,656,088(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000174079 -- 39,618,157(+) AAAAAAAA/AAAAAAA genic_upstream_transcript_variant, intron_variant
rs1000294625 -- 39,653,332(+) A/G genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for B3GALT5 Gene

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

Variation tolerance for B3GALT5 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GALT5 Gene

Disorders for B3GALT5 Gene

Additional Disease Information for B3GALT5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for B3GALT5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for B3GALT5 Gene

Publications for B3GALT5 Gene

  1. 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 22 58
  2. 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 44 58
  3. 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 58
  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 58
  5. 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 22 58

Products for B3GALT5 Gene

Sources for B3GALT5 Gene

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