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Aliases for A4GALT Gene

Aliases for A4GALT Gene

  • Alpha 1,4-Galactosyltransferase 2 3 5
  • 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 61
  • A14GALT 3 4
  • A4GALT1 3 4
  • Alpha 1,4-Galactosyltransferase (Globotriaosylceramide Synthase, P Blood Group) 2
  • Truncated Alpha 1,4-Galactosyltransferase 3
  • Alpha-1,4-Galactosyltransferase 4
  • 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
  • P1 3
  • PK 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. 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) is a Protein Coding gene. Diseases associated with A4GALT include Nor Polyagglutination Syndrome and Caffey Disease. Among its related pathways are Globo Sphingolipid Metabolism and Metabolism. 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

Enhancers for A4GALT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F042742 1.2 Ensembl ENCODE 48.7 -23.0 -23016 3.0 SOX13 TFAP4 ZFP64 ZNF266 DMAP1 THRB RARA ZNF121 PRDM10 FOS A4GALT CYB5R3 ATP5L2 GC22M042763 ENSG00000200448
GH22F042720 0.2 ENCODE 37.8 +0.4 352 0.2 SP3 ZBTB48 POLR2A SCRT2 ZNF76 KDM1A EBF1 EZH2 A4GALT GC22M042668
GH22F042716 0.9 Ensembl ENCODE 37.5 +4.2 4245 1.9 PKNOX1 WRNIP1 KLF17 SIN3A EGR1 SCRT2 ETV6 EGR2 ZNF263 SP3 A4GALT GC22M042668
GH22F042711 0.7 Ensembl ENCODE 36.1 +9.2 9195 1.6 EBF1 ZNF121 JUND GATA3 RAD51 IKZF1 KDM1A SETDB1 A4GALT GC22M042668
GH22F042747 1.3 Ensembl ENCODE 32.4 -27.3 -27333 2.4 HDGF PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 SLC30A9 ZNF143 ZNF207 A4GALT CYB5R3 ATP5L2 ENSG00000200448 GC22M042763
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around A4GALT on UCSC Golden Path with GeneCards custom track

Promoters for A4GALT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000619032 1001 2201 HDGF CTCF ZFP64 TEAD4 ZNF223 ZNF76 EBF1 GATA3 ZNF366 POLR2A

Genomic Location for A4GALT Gene

Chromosome:
22
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

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 Asn 121 and Asn 203
  • Modification sites at PhosphoSitePlus

Domains & Families for A4GALT Gene

Gene Families for A4GALT Gene

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 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: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

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for A4GALT Gene COMPARTMENTS Subcellular localization image for A4GALT gene
Compartment Confidence
extracellular 5
golgi apparatus 5
cytosol 2
mitochondrion 2
plasma membrane 2
nucleus 1
peroxisome 1

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
GO:0070062 extracellular exosome IDA 23376485
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: 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: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 diphosphategalactose Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0

(38) 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

Unigene Clusters for A4GALT Gene

Alpha 1,4-galactosyltransferase:
Representative Sequences:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and 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.
genes like me logo Genes that share expression patterns with A4GALT: view

Primer 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 34 35
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia A4GALT 34 35
  • 87.82 (n)
cow
(Bos Taurus)
Mammalia A4GALT 34 35
  • 87.5 (n)
mouse
(Mus musculus)
Mammalia A4galt 34 16 35
  • 80.65 (n)
rat
(Rattus norvegicus)
Mammalia A4galt 34
  • 80.42 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia A4GALT 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves A4GALT 35
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia A4GALT 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia a4galt 34
  • 65.36 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008258 34
  • 47.9 (n)
fruit fly
(Drosophila melanogaster)
Insecta alpha4GT1 34 35
  • 46.63 (n)
CG17223 36
  • 31 (a)
alpha4GT2 35
  • 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)

Paralogs for A4GALT Gene

Variants for A4GALT Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for A4GALT Gene

A4GAT_HUMAN-Q9NPC4
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
rs28940571 other 42,693,200(-) GGGCC(A/C/T)GCAGC reference, missense
rs28940572 other 42,693,392(-) GTTCG(A/G)CGGCA reference, missense
rs387906279 other 42,693,710(-) ATCTT(-/CTT)CCTGG cds-indel
rs387906280 other 42,692,922(-) GCCCC(-/C)ACGAC reference, frameshift-variant
rs397514502 other 42,693,321(-) GCACC(C/G)AGTCC reference, missense

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)

Relevant External Links for A4GALT Gene

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

Disorders for A4GALT Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
nor polyagglutination syndrome
caffey disease
  • cortical congenital hyperostosis
fabry disease
  • fabry disease, cardiac variant
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for A4GALT

Genetic Association Database (GAD)
A4GALT
Human Genome Epidemiology (HuGE) Navigator
A4GALT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
A4GALT
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 22 64
  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 22 64
  3. 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 22 64
  4. 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 22 64
  5. Globotriaosylceramide (Gb3) content in HeLa cells is correlated to Shiga toxin-induced cytotoxicity and Gb3 synthase expression. (PMID: 19470247) Shin I.S. … Kim B.W. (BMB Rep 2009) 3 22 64

Products for A4GALT Gene

Sources for A4GALT Gene

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