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Aliases for A4GALT Gene

Aliases for A4GALT Gene

  • Alpha 1,4-Galactosyltransferase 2 3
  • Globotriaosylceramide Synthase 2 3 4
  • CD77 Synthase 2 3 4
  • UDP-Galactose:Beta-D-Galactosyl-Beta1-R 4-Alpha-D-Galactosyltransferase 3 4
  • Lactosylceramide 4-Alpha-Galactosyltransferase 2 3
  • Alpha-1,4-N-Acetylglucosaminyltransferase 3 4
  • P1/Pk Synthase 3 4
  • Gb3 Synthase 2 4
  • Alpha4Gal-T1 3 4
  • EC 2.4.1.228 4 63
  • A14GALT 3 4
  • A4GALT1 3 4
  • P1PK 3 6
  • Alpha 1,4-Galactosyltransferase (Globotriaosylceramide Synthase, P Blood Group) 2
  • Alpha-1,4-Galactosyltransferase 4
  • P Blood Group (P One Antigen) 3
  • P(K) Antigen Synthase 3
  • GB3 Synthase 3
  • Gb3S 3
  • P(K) 3
  • Pk 3
  • P1 3

External Ids for A4GALT Gene

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. The encoded protein, which is a type II membrane protein found in the Golgi, is also required for the synthesis of the bacterial verotoxins receptor. [provided by RefSeq, Jul 2008]

GeneCards Summary for A4GALT Gene

A4GALT (Alpha 1,4-Galactosyltransferase) is a Protein Coding gene. Diseases associated with A4GALT include nor polyagglutination syndrome and caffey disease. Among its related pathways are Metabolism and Glycosphingolipid biosynthesis - globo series. 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 for A4GALT Gene

  • Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the transfer of galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis of the receptor for bacterial verotoxins

Gene Wiki entry for A4GALT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for A4GALT Gene

Genomics for A4GALT Gene

Regulatory Elements for A4GALT Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for A4GALT Gene

Start:
42,692,117 bp from pter
End:
42,721,301 bp from pter
Size:
29,185 bases
Orientation:
Minus strand

Genomic View for A4GALT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for A4GALT Gene at MOPED

Post-translational modifications for A4GALT Gene

  • Glycosylation at Asn121 and Asn203
  • Modification sites at PhosphoSitePlus

Other Protein References for A4GALT Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for A4GALT Gene

Graphical View of Domain Structure for InterPro Entry

Q9NPC4

UniProtKB/Swiss-Prot:

A4GAT_HUMAN :
  • Q9NPC4
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

No data available for Gene Families for A4GALT Gene

Function for A4GALT Gene

Molecular function for A4GALT Gene

UniProtKB/Swiss-Prot CatalyticActivity: UDP-alpha-D-galactose + beta-D-galactosyl-(1->4)-D-glucosyl-(1<->1)-ceramide = UDP + alpha-D-galactosyl-(1->4)-beta-D-galactosyl-(1->4)-D-glucosyl-(1<->1)-ceramide
UniProtKB/Swiss-Prot Function: Necessary for the biosynthesis of the Pk antigen of blood histogroup P. Catalyzes the transfer of galactose to lactosylceramide and galactosylceramide. Necessary for the synthesis of the receptor for bacterial verotoxins

Enzyme Numbers (IUBMB) 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:0050512 lactosylceramide 4-alpha-galactosyltransferase activity IEA --
genes like me logo Genes that share ontologies with A4GALT: view

Phenotypes for A4GALT Gene

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

Animal Models for A4GALT Gene

MGI Knock Outs for A4GALT:

Animal Model Products

miRNA for A4GALT Gene

miRTarBase miRNAs that target A4GALT

No data available for Transcription Factor Targeting 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
Jensen Localization Image for A4GALT Gene COMPARTMENTS Subcellular localization image for A4GALT gene
Compartment Confidence
golgi apparatus 5
cytosol 2
extracellular 2
mitochondrion 2
plasma membrane 2
nucleus 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for A4GALT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 10748143
GO:0030173 integral component of Golgi membrane NAS 10748143
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with A4GALT: view

Pathways 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: Protein modification; protein glycosylation

Interacting Proteins for A4GALT Gene

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:0006688 glycosphingolipid biosynthetic process NAS 10748143
GO:0007009 plasma membrane organization IDA 10747952
genes like me logo Genes that share ontologies with A4GALT: view

Compounds for A4GALT Gene

(41) HMDB Compounds for A4GALT Gene

Compound Synonyms Cas Number PubMed IDs
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4
3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))
  • Sulfatide (d18:1/18:1(9Z))
Not Available

(7) Novoseek inferred chemical compound relationships for A4GALT Gene

Compound -log(P) Hits PubMed IDs
lactosylceramide 86.6 5
shiga toxin 81.8 1
verotoxins 78.7 1
glucosylceramide 69.5 2
ceramide 61.2 3
genes like me logo Genes that share compounds with A4GALT: view

Transcripts for A4GALT Gene

Unigene Clusters for A4GALT Gene

Alpha 1,4-galactosyltransferase:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for A4GALT

Primer Products

Flow Cytometry 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 for A4GALT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for A4GALT Gene

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

In Situ Assay Products

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 35
  • 99.43 (n)
  • 99.43 (a)
A4GALT 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia A4GALT 35
  • 87.5 (n)
  • 86.65 (a)
A4GALT 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia A4GALT 35
  • 87.82 (n)
  • 86.4 (a)
A4GALT 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia A4galt 35
  • 80.65 (n)
  • 78.45 (a)
A4galt 16
A4galt 36
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia A4GALT 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia A4galt 35
  • 80.42 (n)
  • 81.09 (a)
chicken
(Gallus gallus)
Aves A4GALT 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia A4GALT 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia a4galt 35
  • 65.36 (n)
  • 59.64 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008258 35
  • 47.9 (n)
  • 34.81 (a)
fruit fly
(Drosophila melanogaster)
Insecta alpha4GT1 35
  • 46.63 (n)
  • 33.84 (a)
alpha4GT1 36
  • 27 (a)
ManyToMany
alpha4GT2 36
  • 22 (a)
ManyToMany
CG17223 37
  • 31 (a)
Species with no ortholog for A4GALT:
  • 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)

Paralogs for A4GALT Gene

Paralogs for A4GALT Gene

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

Variants for A4GALT Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for A4GALT Gene

Q9NPC4-A4GAT_HUMAN
Genetic variation in A4GALT is responsible for the P 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

Sequence variations from dbSNP and Humsavar for A4GALT Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs130392 -- 42,694,708(+) catga(A/G)acccc intron-variant
rs130393 -- 42,695,190(+) GACTC(-/AG)TGACT intron-variant, utr-variant-5-prime, upstream-variant-2KB
rs130394 -- 42,695,335(+) GAGCT(A/G)AGAGT intron-variant, utr-variant-5-prime, upstream-variant-2KB
rs130395 -- 42,695,348(+) GTCCC(C/T)TCCCA intron-variant, utr-variant-5-prime, upstream-variant-2KB
rs130396 -- 42,696,845(+) CCTCA(A/C)ACGGC intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv428391 CNV Gain 18775914
dgv4983n71 CNV Loss 21882294
nsv915185 CNV Gain 21882294
nsv915186 CNV Loss 21882294
nsv915187 CNV Loss 21882294
nsv915188 CNV Gain 21882294
esv2724288 CNV Deletion 23290073
esv2661754 CNV Deletion 23128226
nsv191539 CNV Loss 16902084
esv2724289 CNV Deletion 23290073
esv2672336 CNV Deletion 23128226
nsv915189 CNV Loss 21882294
dgv4984n71 CNV Loss 21882294
dgv4985n71 CNV Loss 21882294

Relevant External Links for A4GALT Gene

HapMap Linkage Disequilibrium report
A4GALT
Human Gene Mutation Database (HGMD)
A4GALT
Blood Group Antigen Gene Mutation Database (BGMUT)
Blood Group

Disorders for A4GALT Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for A4GALT Gene including...

Search for A4GALT Gene in MalaCards »

(1) OMIM Diseases for A4GALT Gene (607922)

(2) University of Copenhagen DISEASES for A4GALT Gene

(1) Novoseek inferred disease relationships for A4GALT Gene

Disease -log(P) Hits PubMed IDs
tumors 0 1

Relevant External Links for A4GALT

Genetic Association Database (GAD)
A4GALT
Human Genome Epidemiology (HuGE) Navigator
A4GALT
genes like me logo Genes that share disorders with A4GALT: view

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

Publications for A4GALT Gene

  1. Cloning and expression of the histo-blood group Pk UDP- galactose:Galbeta1-4Glcbeta1-Cer alpha1,4-galactosyltransferase. Molecular genetic basis of the p phenotype. (PMID: 10747952) Steffensen R. … Clausen H. (J. Biol. Chem. 2000) 3 4 23
  2. 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 J.J. … Baenziger J.U. (J. Biol. Chem. 2000) 2 3 23
  3. 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. (J. Biol. Chem. 2000) 3 4 23
  4. 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
  5. Genetic heterogeneity at the glycosyltransferase loci underlying the GLOB blood group system and collection. (PMID: 15142124) Hellberg A. … Olsson M.L. (Br. J. Haematol. 2004) 3 23

Products for A4GALT Gene

Sources for A4GALT Gene

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