Property Summary

NCBI Gene PubMed Count 30
PubMed Score 319.94
PubTator Score 439.55

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Expression

  Differential Expression (1)

Disease log2 FC p
malignant mesothelioma -1.300 0.000

Synonym

Accession Q9NPC4 B2R7C4 Q9P1X5
Symbols P1
PK
Gb3S
P(k)
P1PK
A14GALT
A4GALT1

Gene

PANTHER Protein Class (2)

  Ortholog (10)

Gene RIF (21)

PMID Text
26773500 This is the first direct biochemical evidence that Gb3/CD77 synthase is able to synthesize two different glycosphingolipid antigens: P(k) and P1, and when p.Q211E substitution is present, the NOR antigen is also synthesized.
25863098 Mutation in the A4GALT gene is associated with rare p phenotype in P1Pk blood group system.
25041587 The results of this investigation demonstrate a consistent association of A4GALT SNPs rs2143918 and rs5751348 with the P1/P2 phenotypes and suggest that SNP rs5751348 may lead to allelic variations in A4GALT gene expression
24417201 these data elucidate a new explanation underlying the p phenotype, implicating the deleted regions of A4GALT as crucial for P1 and P(k) synthesis, possibly due to loss of binding sites for erythroid transcription factors.
24082034 P1-decorated PSGL-1/mIgG2b bound with high avidity to both Stx1 and Stx2, and as such constitutes a potential therapeutic inhibitor of these toxins.
23927681 several P1PK-null alleles were identified.
22965229 Results suggest that the C631G mutation alters the acceptor specificity of Gb3/CD77 synthase, rendering it able to catalyze synthesis of the Gal(alpha1-4)Gal and Gal(alpha1-4)GalNAc moieties.
21186071 Total urinary protein isoforms of globotriaosylceramide were used to identify Fabry disease in women.
21092013 2 Taiwanese individuals with p phenotype were homozygous for a & 428. No expression of P(k) & no enzyme activity were observed in cells transfected with the mutant construct.
20971946 of A4GALT mRNA in cultured human bone marrow cells revealed novel transcripts containing only the noncoding exon 1 and a sequence (here termed exon 2a) from intron 1.
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AA Sequence

MSKPPDLLLRLLRGAPRQRVCTLFIIGFKFTFFVSIMIYWHVVGEPKEKGQLYNLPAEIPCPTLTPPTPP      1 - 70
SHGPTPGNIFFLETSDRTNPNFLFMCSVESAARTHPESHVLVLMKGLPGGNASLPRHLGISLLSCFPNVQ     71 - 140
MLPLDLRELFRDTPLADWYAAVQGRWEPYLLPVLSDASRIALMWKFGGIYLDTDFIVLKNLRNLTNVLGT    141 - 210
QSRYVLNGAFLAFERRHEFMALCMRDFVDHYNGWIWGHQGPQLLTRVFKKWCSIRSLAESRACRGVTTLP    211 - 280
PEAFYPIPWQDWKKYFEDINPEELPRLLSATYAVHVWNKKSQGTRFEATSRALLAQLHARYCPTTHEAMK    281 - 350
MYL                                                                       351 - 353
//

Text Mined References (33)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26773500 2016 Human Gb3/CD77 synthase reveals specificity toward two or four different acceptors depending on amino acid at position 211, creating P(k), P1 and NOR blood group antigens.
25863098 2015 [Molecular basis for an individual with rare p phenotype in P1Pk blood group system].
25041587 2014 A systematic study of single-nucleotide polymorphisms in the A4GALT gene suggests a molecular genetic basis for the P1/P2 blood groups.
24417201 2014 Large deletions involving the regulatory upstream regions of A4GALT give rise to principally novel P1PK-null alleles.
24082034 2014 Shiga-like toxin binds with high avidity to multivalent O-linked blood group P1 determinants on mucin-type fusion proteins.
23927681 2013 P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22965229 2012 A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome.
21186071 2011 Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.
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