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
  • B4Gal-T5 3 4
  • UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 5 2
  • UDP-Gal:BetaGlcNAc Beta 1,4-Galactosyltransferase, Polypeptide 5 3
  • Beta-1.4-Galactosyltransferase V 3
  • Beta-1,4-GalT IV 3
  • BETA4-GALT-IV 3
  • EC 2.4.1.274 4
  • Beta4GalT-V 3
  • EC 2.4.1.- 4
  • Gt-V 3

External Ids for B4GALT5 Gene

Previous GeneCards Identifiers for B4GALT5 Gene

  • GC20M047977
  • GC20M048887
  • GC20M048935
  • GC20M048936
  • GC20M047682
  • GC20M048249
  • GC20M044999

Summaries for B4GALT5 Gene

Entrez Gene Summary 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).

Gene Wiki entry for B4GALT5 Gene

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:
B4GALT5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B4GALT5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

neXtProt entry for B4GALT5 Gene

Post-translational modifications for B4GALT5 Gene

  • Glycosylation at Thr59, Asn77, Asn81, Asn90, Asn111, Asn128, Asn364, and Asn373
  • Modification sites at PhosphoSitePlus

Other Protein References for B4GALT5 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

UniProtKB/Swiss-Prot:

B4GT5_HUMAN :
  • Belongs to the glycosyltransferase 7 family.
Family:
  • Belongs to the glycosyltransferase 7 family.
genes like me logo Genes that share domains with B4GALT5: view

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

Gene Ontology (GO) - Molecular Function 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 --
genes like me logo Genes that share ontologies with B4GALT5: view
genes like me logo Genes that share phenotypes with B4GALT5: view

Animal Model Products

  • Taconic Biosciences Mouse Models for B4GALT5

CRISPR Products

miRNA for B4GALT5 Gene

miRTarBase miRNAs that target B4GALT5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT5

Clone Products

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}.

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 B4GALT5 gene
Compartment Confidence
golgi apparatus 5
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for B4GALT5 Gene

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 --
genes like me logo Genes that share ontologies with B4GALT5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B4GALT5 Gene

Pathways & Interactions for B4GALT5 Gene

genes like me logo Genes that share pathways with B4GALT5: view

Pathways by source 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.

Gene Ontology (GO) - Biological Process for B4GALT5 Gene

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 --
genes like me logo Genes that share ontologies with B4GALT5: view

No data available for SIGNOR curated interactions for B4GALT5 Gene

Drugs & Compounds for B4GALT5 Gene

(1) Drugs for B4GALT5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 51
genes like me logo Genes that share compounds with B4GALT5: view

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 :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B4GALT5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT5 Gene

No ASD Table

Relevant External Links for B4GALT5 Gene

GeneLoc Exon Structure for
B4GALT5

Expression for B4GALT5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for B4GALT5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B4GALT5 Gene

This gene is overexpressed in Whole Blood (x5.2).

Protein differential expression in normal tissues from HIPED for B4GALT5 Gene

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.370487

mRNA 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)
genes like me logo Genes that share expression patterns with B4GALT5: view

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.

Orthologs for B4GALT5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B4GALT5 31 30
  • 99.48 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B4GALT5 31
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B4GALT5 31
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B4GALT5 31 30
  • 92 (n)
OneToOne
cow
(Bos Taurus)
Mammalia B4GALT5 31 30
  • 89.73 (n)
OneToOne
mouse
(Mus musculus)
Mammalia B4galt5 17 31 30
  • 86.82 (n)
chicken
(Gallus gallus)
Aves B4GALT5 31 30
  • 82.82 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B4GALT5 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b4galt6 30
  • 75.42 (n)
zebrafish
(Danio rerio)
Actinopterygii b4galt5 31 30
  • 66.85 (n)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta BcDNA:GH13356 32
  • 38 (a)
CG14517 32
  • 38 (a)
beta4GalT7 31
  • 25 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea W02B12.11 32 30
  • 46.86 (n)
Y73E7A.7 32
  • 41 (a)
sqv-3 31
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
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

Paralogs for B4GALT5 Gene

(5) SIMAP similar genes for B4GALT5 Gene using alignment to 1 proteins:

  • B4GT5_HUMAN
genes like me logo Genes that share paralogs with B4GALT5: view

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

Additional dbSNP identifiers (rs#s) for B4GALT5 Gene

Structural Variations from Database of Genomic Variants (DGV) for B4GALT5 Gene

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

Variation tolerance for B4GALT5 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B4GALT5 Gene

Disorders for B4GALT5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for B4GALT5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
brain stem glioma
  • brainstem neuroglial tumor
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for B4GALT5

genes like me logo Genes that share disorders with B4GALT5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for B4GALT5 Gene

Publications for B4GALT5 Gene

  1. The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PMID: 9597550) Lo NW … Shaper NL (Glycobiology 1998) 2 3 4 54
  2. 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
  3. 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
  4. Establishment of HeLa cell mutants deficient in sphingolipid-related genes using TALENs. (PMID: 24498430) Yamaji T … Hanada K (PloS one 2014) 3 4 54
  5. 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

Products for B4GALT5 Gene

  • Biorbyt antibodies for B4GALT5

Sources for B4GALT5 Gene