This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related... See more...

Aliases for B3GALNT1 Gene

Aliases for B3GALNT1 Gene

  • Beta-1,3-N-Acetylgalactosaminyltransferase 1 (Globoside Blood Group) 2 3 5
  • Globoside Synthase 2 3 4
  • UDP-N-Acetylgalactosamine:Globotriaosylceramide Beta-1,3-N-Acetylgalactosaminyltransferase 3 4
  • UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase, Polypeptide 3 (Globoside Blood Group) 2 3
  • Galactosylgalactosylglucosylceramide Beta-D-Acetyl-Galactosaminyltransferase 3 4
  • UDP-GalNAc:Beta-1,3-N-Acetylgalactosaminyltransferase 1 3 4
  • Beta-1,3-Galactosyltransferase 3 3 4
  • Beta-1,3-GalNAc-T1 3 4
  • Beta-1,3-GalTase 3 3 4
  • P Antigen Synthase 2 3
  • Beta-3-Gx-T3 3 4
  • Beta3Gal-T3 3 4
  • EC 2.4.1.79 4 52
  • B3Gal-T3 3 4
  • B3GALT3 3 4
  • UDP-GalNAc:BetaGlcNAc Beta-1,3-Galactosaminyltransferase, Polypeptide 1 (Globoside Blood Group) 3
  • UDP-GalNAc:BetaGlcNAc Beta 1,3-Galactosaminyltransferase, Polypeptide 1 (Globoside Blood Group) 2
  • Globotriaosylceramide 3-Beta-N-Acetylgalactosaminyltransferase 3
  • P Blood Group Globoside 3
  • Beta3GalT3 4
  • Brainiac1 3
  • Gb4Cer 3
  • GLCT3 3
  • GalT3 3
  • GLOB 3
  • P1 3
  • P 3

External Ids for B3GALNT1 Gene

Previous HGNC Symbols for B3GALNT1 Gene

  • B3GALT3

Previous GeneCards Identifiers for B3GALNT1 Gene

  • GC03M162285
  • GC03M160801
  • GC03M158200

Summaries for B3GALNT1 Gene

Entrez Gene Summary for B3GALNT1 Gene

  • This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017]

GeneCards Summary for B3GALNT1 Gene

B3GALNT1 (Beta-1,3-N-Acetylgalactosaminyltransferase 1 (Globoside Blood Group)) is a Protein Coding gene. Diseases associated with B3GALNT1 include Blood Group, P1pk System and Blood Group, Globoside System. Among its related pathways are Sphingolipid metabolism and Globo Sphingolipid Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity. An important paralog of this gene is B3GALT1.

UniProtKB/Swiss-Prot Summary for B3GALNT1 Gene

  • Transfers N-acetylgalactosamine onto globotriaosylceramide (PubMed:10993897). Plays a critical role in preimplantation stage embryonic development (By similarity).

Gene Wiki entry for B3GALNT1 Gene

Additional gene information for B3GALNT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B3GALNT1 Gene

Genomics for B3GALNT1 Gene

GeneHancer (GH) Regulatory Elements for B3GALNT1 Gene

Promoters and enhancers for B3GALNT1 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
GH03J161104 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 511.7 +0.6 629 2 ZNF217 MYC TEAD4 ZFX POLR2A CLOCK ZBTB26 HDAC2 CTBP1 SIN3A B3GALNT1 HSALNG0030253 NMD3 lnc-B3GALNT1-1 SPTSSB
GH03J161220 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 18.6 -116.7 -116679 4.2 ZBTB40 ZNF217 EP300 TCF12 POLR2G SP1 PHF8 ZFX REST POLR2A NMD3 ENSG00000271052 lnc-B3GALNT1-2 SPTSSB B3GALNT1 PSMC1P7 IFT80 EEF1GP4 piR-56883-117
GH03J161067 Enhancer 1 Ensembl ENCODE 25.1 +35.9 35929 7 ZNF217 JUND EP300 RFX1 RELA RCOR1 TRIM22 ATF2 EZH2 CTBP1 B3GALNT1 NMD3 PSMC1P7 lnc-NMD3-1 piR-34822-235 PPM1L
GH03J161162 Enhancer 0.8 Ensembl ENCODE 19.7 -57.7 -57670 1 JUND FOS TRIM28 ZNF316 TRIM24 JUN NFE2 FOSL1 EZH2 EHMT2 B3GALNT1 SPTSSB NMD3 LOC105374186
GH03J160980 Enhancer 0.8 ENCODE 21.1 +124.2 124179 1.1 ZNF623 ZNF510 RELA ZNF266 SRF ZBTB11 ZNF426 OVOL3 ZNF213 BATF B3GALNT1 NMD3 IFT80 SMC4 piR-60146-115 piR-40476-051 PPM1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around B3GALNT1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B3GALNT1

Top Transcription factor binding sites by QIAGEN in the B3GALNT1 gene promoter:
  • GATA-1
  • GATA-2
  • POU2F1
  • POU2F1a
  • TBP

Genomic Locations for B3GALNT1 Gene

Genomic Locations for B3GALNT1 Gene
chr3:161,083,883-161,105,630
(GRCh38/hg38)
Size:
21,748 bases
Orientation:
Minus strand
chr3:160,801,671-160,823,172
(GRCh37/hg19)
Size:
21,502 bases
Orientation:
Minus strand

Genomic View for B3GALNT1 Gene

Genes around B3GALNT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GALNT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GALNT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GALNT1 Gene

Proteins for B3GALNT1 Gene

  • Protein details for B3GALNT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75752-B3GL1_HUMAN
    Recommended name:
    UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1
    Protein Accession:
    O75752
    Secondary Accessions:
    • D3DNM4
    • Q3Y531
    • Q6IAI5
    • Q8NFM8
    • Q8NFM9
    • Q9HA06

    Protein attributes for B3GALNT1 Gene

    Size:
    331 amino acids
    Molecular mass:
    39512 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available

neXtProt entry for B3GALNT1 Gene

Selected DME Specific Peptides for B3GALNT1 Gene

O75752:
  • LALSLEDEH
  • LYGDIIRQDFLDTYNNLTLKTIMAFRWV
  • FTLREHSNCS

Post-translational modifications for B3GALNT1 Gene

  • Glycosylation at Asn72, Asn154, Asn198, Asn212, Ser225, and Asn326
  • Modification sites at PhosphoSitePlus

Domains & Families for B3GALNT1 Gene

Gene Families for B3GALNT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Blood group antigen proteins
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for B3GALNT1 Gene

Blocks:
  • Glycosyl transferase, family 31
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for B3GALNT1 Gene

GenScript: Design optimal peptide antigens:
  • UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase (B3GL1_HUMAN)
  • Beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group) (Q49AT3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75752

UniProtKB/Swiss-Prot:

B3GL1_HUMAN :
  • Belongs to the glycosyltransferase 31 family.
Family:
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GALNT1: view

Function for B3GALNT1 Gene

Molecular function for B3GALNT1 Gene

UniProtKB/Swiss-Prot Function:
Transfers N-acetylgalactosamine onto globotriaosylceramide (PubMed:10993897). Plays a critical role in preimplantation stage embryonic development (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=globoside Gb3Cer (d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = globoside Gb4Cer (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:22252, ChEBI:CHEBI:15378, ChEBI:CHEBI:18259, ChEBI:CHEBI:18313, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138; EC=2.4.1.79; Evidence=. ;.

Enzyme Numbers (IUBMB) for B3GALNT1 Gene

Phenotypes From GWAS Catalog for B3GALNT1 Gene

Gene Ontology (GO) - Molecular Function for B3GALNT1 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 IBA 21873635
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with B3GALNT1: view
genes like me logo Genes that share phenotypes with B3GALNT1: view

Animal Models for B3GALNT1 Gene

MGI Knock Outs for B3GALNT1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B3GALNT1

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for B3GALNT1 Gene

Localization for B3GALNT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GALNT1 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 B3GALNT1 gene
Compartment Confidence
golgi apparatus 5
extracellular 3
endoplasmic reticulum 3
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for B3GALNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005794 Golgi apparatus IBA,IEA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B3GALNT1: view

Pathways & Interactions for B3GALNT1 Gene

genes like me logo Genes that share pathways with B3GALNT1: view

UniProtKB/Swiss-Prot O75752-B3GL1_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B3GALNT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA,IBA 21873635
GO:0006487 protein N-linked glycosylation IBA 21873635
GO:0006493 protein O-linked glycosylation IBA 21873635
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0009312 oligosaccharide biosynthetic process IBA 21873635
genes like me logo Genes that share ontologies with B3GALNT1: view

No data available for SIGNOR curated interactions for B3GALNT1 Gene

Drugs & Compounds for B3GALNT1 Gene

(2) Drugs for B3GALNT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0

(15) Additional Compounds for B3GALNT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lactosamine
  • 2-amino-2-Deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-amino-2-Deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
13000-25-4
N-Acetylgalactosamine
  • 2-(acetylamino)-2-Deoxy-alpha-D-galactopyranose
  • alpha-GalNAc
  • alpha-GalpNAc
  • GalNAc-alpha
  • Tn
1811-31-0
Tetrahexosylceramide (d18:1/12:0)
  • CQH
  • Cytolipin K
  • GalNAc-beta1->3gal-alpha1->3gal-beta1->4GLC-beta1->1'cer
  • Ganglioside GB4
  • Ganglioside GL 4
Trihexosylceramide (d18:1/12:0)
  • Ceramide trihexoside
  • D-Galactosyl-1,4-D-galactosyl-1,4-D-glucosylceramide
  • delta-Galactosyl-1,4-delta-galactosyl-1,4-delta-glucosylceramide
  • Fabry glycolipid
  • Gal-alpha1->4gal-beta1->4GLC-beta1->1'cer
Trihexosylceramide (d18:1/16:0)
  • Ceramide trihexoside
  • D-Galactosyl-1,4-D-galactosyl-1,4-D-glucosylceramide
  • delta-Galactosyl-1,4-delta-galactosyl-1,4-delta-glucosylceramide
  • Fabry glycolipid
  • Gal-alpha1->4gal-beta1->4GLC-beta1->1'cer
genes like me logo Genes that share compounds with B3GALNT1: view

Transcripts for B3GALNT1 Gene

mRNA/cDNA for B3GALNT1 Gene

39 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
51 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 B3GALNT1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B3GALNT1 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
SP1:
SP2: - - -
SP3: - -
SP4: - - -
SP5: - - - -
SP6: -
SP7:

Relevant External Links for B3GALNT1 Gene

GeneLoc Exon Structure for
B3GALNT1

Expression for B3GALNT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for B3GALNT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for B3GALNT1 Gene

This gene is overexpressed in Vitreous humor (49.1), Heart (10.2), and Plasma (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for B3GALNT1 Gene



Protein tissue co-expression partners for B3GALNT1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B3GALNT1

SOURCE GeneReport for Unigene cluster for B3GALNT1 Gene:

Hs.418062

mRNA Expression by UniProt/SwissProt for B3GALNT1 Gene:

O75752-B3GL1_HUMAN
Tissue specificity: Higher expression in heart and brain, and to a lesser extent in lung, placenta, kidney and testis. Lower expression in liver, spleen and stomach. No expression in skeletal muscle.

Evidence on tissue expression from TISSUES for B3GALNT1 Gene

  • Kidney(4.4)
  • Nervous system(4.4)
  • Heart(2)
genes like me logo Genes that share expression patterns with B3GALNT1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GALNT1 Gene

Orthologs for B3GALNT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for B3GALNT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia B3GALNT1 31 30
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia B3GALNT1 31 30
  • 93.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia B3GALNT1 31 30
  • 92.35 (n)
OneToOne
mouse
(Mus musculus)
Mammalia B3galnt1 17 31 30
  • 88.42 (n)
rat
(Rattus norvegicus)
Mammalia B3galnt1 30
  • 87.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia B3GALNT1 31
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B3GALNT1 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves B3GALNT1 31 30
  • 69.92 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B3GALNT1 31
  • 58 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:194551 31
  • 26 (a)
ManyToMany
Species where no ortholog for B3GALNT1 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for B3GALNT1 Gene

ENSEMBL:
Gene Tree for B3GALNT1 (if available)
TreeFam:
Gene Tree for B3GALNT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for B3GALNT1: view image

Paralogs for B3GALNT1 Gene

(21) SIMAP similar genes for B3GALNT1 Gene using alignment to 14 proteins:

  • B3GL1_HUMAN
  • C9J0F8_HUMAN
  • C9J6I7_HUMAN
  • C9J8U7_HUMAN
  • C9JD16_HUMAN
  • C9JRV6_HUMAN
  • C9JXR0_HUMAN
  • E7EVF0_HUMAN
  • E7EVS2_HUMAN
  • Q49AT3_HUMAN
  • R4X5Z0_HUMAN
  • R4X5Z4_HUMAN
  • R4X601_HUMAN
  • R4X604_HUMAN

Pseudogenes.org Pseudogenes for B3GALNT1 Gene

genes like me logo Genes that share paralogs with B3GALNT1: view

Variants for B3GALNT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for B3GALNT1 Gene

B3GL1_HUMAN-O75752
Genetic variation in B3GALNT1 is responsible for the blood group P1PK system [MIM:111400]. Different combinations or absence of the P1PK antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and P. The P1(k) and P2(k) phenotypes are rare and characterized by lack of the P antigen.
B3GL1_HUMAN-O75752
B3GALNT1 activity is responsible for the globoside blood group system (GLOB), which is defined by the P antigen [MIM:615021].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B3GALNT1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
6633 Affects: p phenotype 161,086,553(-) G/A NONSENSE
6634 Affects: p phenotype 161,086,217(-) C/CT FRAMESHIFT_VARIANT
rs104893683 Affects: p phenotype. - 161,085,944(-) C/Tp.Gly271Arg MISSENSE_VARIANT
rs28937582 Affects: p phenotype. - 161,085,958(-) T/Gp.Glu266Ala MISSENSE_VARIANT
rs2231257 - p.Asp126Asn

Additional dbSNP identifiers (rs#s) for B3GALNT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for B3GALNT1 Gene

Variant ID Type Subtype PubMed ID
nsv592128 CNV loss 21841781

Variation tolerance for B3GALNT1 Gene

Residual Variation Intolerance Score: 34.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.28; 62.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B3GALNT1 Gene

Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
Human Gene Mutation Database (HGMD)
B3GALNT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
B3GALNT1

Disorders for B3GALNT1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for B3GALNT1 Gene - From: OMIM, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
blood group, p1pk system
  • blood group, p1pk system, p phenotype
blood group, globoside system
  • glob
urethral calculus
  • urethral stone
acute orbital inflammation
  • acute inflammation of orbit
orbital cellulitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for B3GALNT1

genes like me logo Genes that share disorders with B3GALNT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for B3GALNT1 Gene

Publications for B3GALNT1 Gene

  1. Expression cloning of human globoside synthase cDNAs. Identification of beta 3Gal-T3 as UDP-N-acetylgalactosamine:globotriaosylceramide beta 1,3-N-acetylgalactosaminyltransferase. (PMID: 10993897) Okajima T … Furukawa K (The Journal of biological chemistry 2000) 2 3 4 23 54
  2. A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family. (PMID: 9582303) Amado M … Clausen H (The Journal of biological chemistry 1998) 2 3 4 54
  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 54
  4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 54
  5. Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene. (PMID: 12023287) Hellberg A … Olsson ML (The Journal of biological chemistry 2002) 3 4 54

Products for B3GALNT1 Gene

Sources for B3GALNT1 Gene