The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been... See more...

Aliases for A4GALT Gene

Aliases for A4GALT Gene

  • Alpha 1,4-Galactosyltransferase (P Blood Group) 2 3 5
  • Lactosylceramide 4-Alpha-Galactosyltransferase 2 3 4
  • Globotriaosylceramide Synthase 2 3 4
  • CD77 Synthase 2 3 4
  • UDP-Galactose:Beta-D-Galactosyl-Beta1-R 4-Alpha-D-Galactosyltransferase 3 4
  • Alpha-1,4-N-Acetylglucosaminyltransferase 3 4
  • Alpha-1,4-Galactosyltransferase 3 4
  • P One Antigen (P Blood Group) 2 3
  • P1/Pk Synthase 3 4
  • Alpha4Gal-T1 3 4
  • Gb3 Synthase 2 4
  • EC 2.4.1.228 4 54
  • A14GALT 3 4
  • A4GALT1 3 4
  • Alpha 1,4-Galactosyltransferase (Globotriaosylceramide Synthase, P Blood Group) 2
  • Truncated Alpha 1,4-Galactosyltransferase 3
  • Alpha 14-Galactosyltransferase 3
  • P Blood Group (P One Antigen) 3
  • P(K) Antigen Synthase 3
  • GB3 Synthase 3
  • Gb3S 3
  • P(K) 3
  • P1PK 3
  • PK 3
  • P1 3

External Ids for A4GALT Gene

Previous HGNC Symbols for A4GALT Gene

  • P1

Previous GeneCards Identifiers for A4GALT Gene

  • GC22M039690
  • GC22M041319
  • GC22M041412
  • GC22M043088
  • GC22M026048

Summaries for A4GALT Gene

Entrez Gene Summary for A4GALT Gene

  • The protein encoded by this gene catalyzes the transfer of galactose to lactosylceramide to form globotriaosylceramide, which has been identified as the P(k) antigen of the P blood group system. This protein, a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for A4GALT Gene

A4GALT (Alpha 1,4-Galactosyltransferase (P Blood Group)) is a Protein Coding gene. Diseases associated with A4GALT include Blood Group, P1pk System and Caffey Disease. Among its related pathways are Metabolism and Globo Sphingolipid Metabolism. Gene Ontology (GO) annotations related to this gene include galactosyltransferase activity and lactosylceramide 4-alpha-galactosyltransferase activity. An important paralog of this gene is A4GNT.

UniProtKB/Swiss-Prot Summary for A4GALT Gene

  • Catalyzes the transfer of galactose from UDP-alpha-D-galactose to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)) (PubMed:10748143). Also able to transfer galactose to galactosylceramide/beta-D-Gal-(1<->1')-Cer (PubMed:10748143). Globoside Gb3Cer is a glycosphingolipid of the globo serie, one of the major types of neutral root structures of glycosphingolipids, that constitute a significant portion of mammalian cell membranes (Probable). Globotriaosylceramide/globoside Gb3Cer in blood and tissue cell membranes is the antigen Pk of blood histogroup P (PubMed:10747952).
  • (Microbial infection) Globotriaosylceramide is one of the cellular ligands for bacterial verotoxins.

Gene Wiki entry for A4GALT Gene

Additional gene information for A4GALT Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for A4GALT Gene

Genomics for A4GALT Gene

GeneHancer (GH) Regulatory Elements for A4GALT Gene

Promoters and enhancers for A4GALT 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
GH22J042719 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 788.1 +1.2 1200 3 NKRF POLR2A MLLT1 ZNF687 PRDM1 IKZF1 ZBTB8A IKZF2 SP2 ZNF561 A4GALT CYB5R3 lnc-A4GALT-2 piR-55985-124 RRP7BP RN7SKP80 RRP7A SERHL2 lnc-SERHL2-3
GH22J042695 Promoter/Enhancer 0.8 EPDnew ENCODE dbSUPER 760.2 +25.7 25704 0.7 ZNF143 A4GALT CYB5R3 lnc-A4GALT-3 lnc-SERHL2-3 lnc-A4GALT-2
GH22J042751 Enhancer 1.3 FANTOM5 Ensembl ENCODE 32.7 -32.6 -32600 5.8 MLX SMARCE1 POLR2A NR2F6 CREB1 MIXL1 ZNF362 RELA ZNF121 TEAD4 A4GALT NAGA piR-42700-086 piR-50308-434 ENSG00000200448
GH22J042747 Enhancer 0.9 Ensembl ENCODE 45.3 -27.1 -27100 3.2 ZNF362 ZNF133 ZNF121 ZNF384 ZBTB8A PRDM10 ZEB2 CEBPB ZNF629 PATZ1 piR-31432-460 piR-53431-466 A4GALT RRP7BP RN7SKP80 CYB5R3 ATP5MGL piR-60051-070
GH22J042716 Enhancer 1 ENCODE dbSUPER 37.4 +4.4 4352 1.7 ZNF24 ETV6 TEAD4 NKRF MLLT1 SP7 POLR2A ZNF687 PRDM1 RELA lnc-SERHL2-3 piR-55985-124 A4GALT lnc-A4GALT-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around A4GALT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the A4GALT gene promoter:
  • AP-1
  • ATF
  • COUP
  • COUP-TF
  • COUP-TF1
  • CREB
  • HNF-4alpha1
  • HNF-4alpha2
  • Max1
  • NF-kappaB1

Genomic Locations for A4GALT Gene

Genomic Locations for A4GALT Gene
chr22:42,692,117-42,721,301
(GRCh38/hg38)
Size:
29,185 bases
Orientation:
Minus strand
chr22:43,088,127-43,117,304
(GRCh37/hg19)
Size:
29,178 bases
Orientation:
Minus strand

Genomic View for A4GALT Gene

Genes around A4GALT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
A4GALT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for A4GALT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for A4GALT Gene

Proteins for A4GALT Gene

  • Protein details for A4GALT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NPC4-A4GAT_HUMAN
    Recommended name:
    Lactosylceramide 4-alpha-galactosyltransferase
    Protein Accession:
    Q9NPC4
    Secondary Accessions:
    • B2R7C4
    • Q9P1X5

    Protein attributes for A4GALT Gene

    Size:
    353 amino acids
    Molecular mass:
    40499 Da
    Quaternary structure:
    No Data Available

neXtProt entry for A4GALT Gene

Selected DME Specific Peptides for A4GALT Gene

Q9NPC4:
  • HEFMALCM
  • ESRACRGVT
  • ALLAQLHARYCPTTH
  • LGISLLSCFPNV
  • YNGWIWGHQGPQLLTRVFKKWCSI
  • LPVLSDASRIAL
  • CSVESAA
  • LPPEAFYPIPWQ
  • WKFGGIYLDTDFIVLKNL

Post-translational modifications for A4GALT Gene

  • Glycosylation at Asn121 and Asn203
  • Modification sites at PhosphoSitePlus

Domains & Families for A4GALT Gene

Gene Families for A4GALT Gene

Suggested Antigen Peptide Sequences for A4GALT Gene

GenScript: Design optimal peptide antigens:
  • UDP-galactose:beta-D-galactosyl-beta1-R 4-alpha-D-galactosyltransferase (A4GAT_HUMAN)
  • Alpha-1,4-galactosyltransferase (B0L3P6_HUMAN)
  • Alpha-1,4-galactosyltransferase (B0L3P7_HUMAN)
  • Putative alpha 1,4-galactosyltransferase transcript variant IV (F2VPV4_HUMAN)
  • Putative alpha 1,4-galactosyltransferase transcript variant IV (F2VPV5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NPC4

UniProtKB/Swiss-Prot:

A4GAT_HUMAN :
  • The conserved DXD motif is involved in enzyme activity.
  • Belongs to the glycosyltransferase 32 family.
Domain:
  • The conserved DXD motif is involved in enzyme activity.
Family:
  • Belongs to the glycosyltransferase 32 family.
genes like me logo Genes that share domains with A4GALT: view

Function for A4GALT Gene

Molecular function for A4GALT Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of galactose from UDP-alpha-D-galactose to lactosylceramide/beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(d18:1(4E)) to produce globotriaosylceramide/globoside Gb3Cer (d18:1(4E)) (PubMed:10748143). Also able to transfer galactose to galactosylceramide/beta-D-Gal-(1<->1')-Cer (PubMed:10748143). Globoside Gb3Cer is a glycosphingolipid of the globo serie, one of the major types of neutral root structures of glycosphingolipids, that constitute a significant portion of mammalian cell membranes (Probable). Globotriaosylceramide/globoside Gb3Cer in blood and tissue cell membranes is the antigen Pk of blood histogroup P (PubMed:10747952).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Globotriaosylceramide is one of the cellular ligands for bacterial verotoxins.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide(d18:1(4E)) + UDP-alpha-D-galactose = globoside Gb3Cer (d18:1(4E)) + H(+) + UDP; Xref=Rhea:RHEA:11924, ChEBI:CHEBI:15378, ChEBI:CHEBI:17950, ChEBI:CHEBI:18313, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914; EC=2.4.1.228; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11925; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=beta-D-Gal-(1<->1')-Cer + UDP-alpha-D-galactose = alpha-D-Gal-(1->4)-beta-D-Gal-(1<->1')-Cer + H(+) + UDP; Xref=Rhea:RHEA:60044, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:143593, ChEBI:CHEBI:143594; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:60045; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=54.5 uM for beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)- ceramide(d18:1(4E)) {ECO:0000269 PubMed:10748143}; KM=132 uM for beta-D-Gal-(1<->1')-Cer {ECO:0000269 PubMed:10748143};

Enzyme Numbers (IUBMB) for A4GALT Gene

Phenotypes From GWAS Catalog for A4GALT Gene

Gene Ontology (GO) - Molecular Function for A4GALT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008378 galactosyltransferase activity IDA 10747952
GO:0015643 toxic substance binding IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0050512 lactosylceramide 4-alpha-galactosyltransferase activity IEA --
genes like me logo Genes that share ontologies with A4GALT: view
genes like me logo Genes that share phenotypes with A4GALT: view

Human Phenotype Ontology for A4GALT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for A4GALT Gene

MGI Knock Outs for A4GALT:

Animal Model Products

CRISPR Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for A4GALT Gene

Localization for A4GALT Gene

Subcellular locations from UniProtKB/Swiss-Prot for A4GALT 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 A4GALT gene
Compartment Confidence
golgi apparatus 5
plasma membrane 2
mitochondrion 2
cytosol 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for A4GALT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IDA 10748143
GO:0016021 integral component of membrane IEA --
GO:0030173 integral component of Golgi membrane NAS 10748143
genes like me logo Genes that share ontologies with A4GALT: view

Pathways & Interactions for A4GALT Gene

genes like me logo Genes that share pathways with A4GALT: view

Pathways by source for A4GALT Gene

UniProtKB/Swiss-Prot Q9NPC4-A4GAT_HUMAN

  • Pathway: Glycolipid biosynthesis.

Gene Ontology (GO) - Biological Process for A4GALT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001576 globoside biosynthetic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006688 glycosphingolipid biosynthetic process NAS 10748143
GO:0007009 plasma membrane organization IDA 10747952
genes like me logo Genes that share ontologies with A4GALT: view

No data available for SIGNOR curated interactions for A4GALT Gene

Drugs & Compounds for A4GALT Gene

(3) Drugs for A4GALT Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Uridine 5'-diphosphate Experimental Pharma 0
Uridine diphosphategalactose Experimental Pharma 0

(45) Additional Compounds for A4GALT Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
genes like me logo Genes that share compounds with A4GALT: view

Transcripts for A4GALT Gene

mRNA/cDNA for A4GALT Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for A4GALT Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d
SP1: - - -
SP2: - -
SP3: - -
SP4: -
SP5:

Relevant External Links for A4GALT Gene

GeneLoc Exon Structure for
A4GALT
ECgene alternative splicing isoforms for
A4GALT

Expression for A4GALT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for A4GALT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for A4GALT Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for A4GALT Gene



Protein tissue co-expression partners for A4GALT Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of A4GALT Gene:

A4GALT

SOURCE GeneReport for Unigene cluster for A4GALT Gene:

Hs.105956

mRNA Expression by UniProt/SwissProt for A4GALT Gene:

Q9NPC4-A4GAT_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in kidney, heart, spleen, liver, testis and placenta.

Evidence on tissue expression from TISSUES for A4GALT Gene

  • Heart(2.1)
  • Nervous system(2.1)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for A4GALT Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • immune
Regions:
General:
  • blood
  • red blood cell
genes like me logo Genes that share expression patterns with A4GALT: view

No data available for mRNA differential expression in normal tissues for A4GALT Gene

Orthologs for A4GALT Gene

This gene was present in the common ancestor of animals.

Orthologs for A4GALT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia A4GALT 33 32
  • 99.43 (n)
OneToOne
dog
(Canis familiaris)
Mammalia A4GALT 33 32
  • 87.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia A4GALT 33 32
  • 87.5 (n)
OneToOne
mouse
(Mus musculus)
Mammalia A4galt 17 33 32
  • 80.65 (n)
rat
(Rattus norvegicus)
Mammalia A4galt 32
  • 80.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia A4GALT 33
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves A4GALT 33
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia A4GALT 33
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia a4galt 32
  • 65.36 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008258 32
  • 47.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta alpha4GT1 33 32
  • 46.63 (n)
ManyToMany
CG17223 34
  • 31 (a)
alpha4GT2 33
  • 22 (a)
ManyToMany
Species where no ortholog for A4GALT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for A4GALT Gene

ENSEMBL:
Gene Tree for A4GALT (if available)
TreeFam:
Gene Tree for A4GALT (if available)
Aminode:
Evolutionary constrained regions (ECRs) for A4GALT: view image

Paralogs for A4GALT Gene

Paralogs for A4GALT Gene

(12) SIMAP similar genes for A4GALT Gene using alignment to 26 proteins:

  • A4GAT_HUMAN
  • B0L3P6_HUMAN
  • B0L3P7_HUMAN
  • F2VPV4_HUMAN
  • F2VPV5_HUMAN
  • M1KVK7_HUMAN
  • Q540I5_HUMAN
  • Q540I6_HUMAN
  • Q5D079_HUMAN
  • Q6RJV6_HUMAN
  • Q6RJV7_HUMAN
  • Q6RJV8_HUMAN
  • Q6RJV9_HUMAN
  • Q6RJW0_HUMAN
  • Q6RJW1_HUMAN
  • Q7Z2I1_HUMAN
  • Q7Z7C2_HUMAN
  • Q7Z7C3_HUMAN
  • Q7Z7C4_HUMAN
  • Q7Z7C5_HUMAN
  • Q7Z7C6_HUMAN
  • R4X5Z8_HUMAN
  • S6CPX2_HUMAN
  • S6CQ09_HUMAN
  • S6CQT5_HUMAN
  • S6CRD2_HUMAN
genes like me logo Genes that share paralogs with A4GALT: view

Variants for A4GALT Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for A4GALT Gene

A4GAT_HUMAN-Q9NPC4
Genetic variation in A4GALT is responsible for the P1PK system blood group phenotypes [MIM:111400]. Different combinations or absence of the P blood group system antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and p. Genetic variation in A4GALT determines the p phenotype, which is rare and does not express any antigens. It is also known as null phenotype; p individuals have antibodies against P, P1 and Pk antigens in their sera. These antibodies are clinically important because they can cause severe transfusion reactions and miscarriage (PubMed:10993874, PubMed:11896312). Genetic variation in A4GALT is also responsible for the NOR polyagglutination syndrome [MIM:111400]. Polyagglutination is the occurrence of red cell agglutination by virtually all human sera, but not by autologous serum or sera from newborns, creating a risk of complications during transfusions of NOR erythrocytes. It is caused by the unusual Gal(alpha1-4)GalNAc glycolipid epitope (PubMed:22965229).

Sequence variations from dbSNP and Humsavar for A4GALT Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs28940571 affects, p phenotype, - 42,693,200(-) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs28940572 affects, p phenotype, - 42,693,392(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs387906279 affects, p phenotype 42,693,709(-) GAAGAAGA/GAAGA coding_sequence_variant, genic_downstream_transcript_variant, inframe_deletion
rs387906280 affects, p phenotype 42,692,923(-) GGGG/GGGGG coding_sequence_variant, frameshift, genic_downstream_transcript_variant
rs397514502 affects, p phenotype, - 42,693,321(-) G/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for A4GALT Gene

Variant ID Type Subtype PubMed ID
dgv2463n106 CNV deletion 24896259
esv2661754 CNV deletion 23128226
esv2672336 CNV deletion 23128226
esv2724288 CNV deletion 23290073
esv2724289 CNV deletion 23290073
esv3028234 CNV deletion 24192839
esv3558195 CNV deletion 23714750
esv3558196 CNV deletion 23714750
esv3647838 CNV loss 21293372
esv3647839 CNV loss 21293372
nsv1072639 CNV deletion 25765185
nsv191539 CNV deletion 16902084
nsv428391 CNV gain 18775914
nsv955464 CNV deletion 24416366

Variation tolerance for A4GALT Gene

Residual Variation Intolerance Score: 26.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for A4GALT Gene

Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group System
Human Gene Mutation Database (HGMD)
A4GALT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
A4GALT

Disorders for A4GALT Gene

MalaCards: The human disease database

(4) MalaCards diseases for A4GALT Gene - From: HGMD, OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
blood group, p1pk system
  • blood group, p1pk system, p phenotype
caffey disease
  • infantile cortical hyperostosis
fabry disease
  • angiokeratoma corporis diffusum
blood group incompatibility
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for A4GALT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with A4GALT: view

No data available for UniProtKB/Swiss-Prot and Genatlas for A4GALT Gene

Publications for A4GALT Gene

  1. Three-base deletion and one-base insertion of the alpha(1,4)galactosyltransferase gene responsible for the P phenotype. (PMID: 11896312) Koda Y … Kimura H (Transfusion 2002) 3 4 23 56
  2. Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals. (PMID: 10993874) Furukawa K … Furukawa K (The Journal of biological chemistry 2000) 3 4 23 56
  3. Cloning and expression of the histo-blood group Pk UDP-galactose: Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular genetic basis of the p phenotype. (PMID: 10747952) Steffensen R … Clausen H (The Journal of biological chemistry 2000) 3 4 23 56
  4. Cloning of Gb3 synthase, the key enzyme in globo-series glycosphingolipid synthesis, predicts a family of alpha 1, 4-glycosyltransferases conserved in plants, insects, and mammals. (PMID: 10854428) Keusch JJ … Baenziger JU (The Journal of biological chemistry 2000) 2 3 23 56
  5. A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome. (PMID: 22965229) Suchanowska A … Czerwinski M (The Journal of biological chemistry 2012) 3 4 56

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