Property Summary

NCBI Gene PubMed Count 30
Grant Count 12
R01 Count 12
Funding $994,657.82
PubMed Score 319.94
PubTator Score 439.55

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
malignant mesothelioma -1.300 0.000

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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