A4GALT (alpha 1,4-galactosyltransferase (P blood group))

2007-02-01  

Identity

HGNC
LOCATION
22q13.2
LOCUSID
ALIAS
A14GALT,A4GALT1,Gb3S,P(k),P1,P1PK,PK

Other Information

Locus ID:

NCBI: 53947
MIM: 607922
HGNC: 18149
Ensembl: ENSG00000128274

Variants:

dbSNP: 53947
ClinVar: 53947
TCGA: ENSG00000128274
COSMIC: A4GALT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128274ENST00000249005Q9NPC4
ENSG00000128274ENST00000249005A0A0S2Z5J1
ENSG00000128274ENST00000381278Q9NPC4
ENSG00000128274ENST00000381278A0A0S2Z5J1
ENSG00000128274ENST00000401850Q9NPC4
ENSG00000128274ENST00000401850A0A0S2Z5J1
ENSG00000128274ENST00000642412Q9NPC4
ENSG00000128274ENST00000642412A0A0S2Z5J1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
Glycosphingolipid biosynthesis - lacto and neolacto seriesKEGGko00601
Glycosphingolipid biosynthesis - lacto and neolacto seriesKEGGhsa00601
Glycosphingolipid biosynthesis - globo and isoglobo seriesKEGGhsa00603
Metabolic pathwaysKEGGhsa01100
Glycosphingolipid biosynthesis, globo-series, LacCer => Gb4CerKEGGhsa_M00068
Glycosphingolipid biosynthesis, globo-series, LacCer => Gb4CerKEGGM00068

References

Pubmed IDYearTitleCitations
207329962010Human intestinal tissue and cultured colonic cells contain globotriaosylceramide synthase mRNA and the alternate Shiga toxin receptor globotetraosylceramide.30
208374692010Transmembrane BAX inhibitor motif containing (TMBIM) family proteins perturbs a trans-Golgi network enzyme, Gb3 synthase, and reduces Gb3 biosynthesis.22
191390812009The human P(k) histo-blood group antigen provides protection against HIV-1 infection.16
209719462011Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups.15
128885652003The blood group P1 synthase gene is identical to the Gb3/CD77 synthase gene. A clue to the solution of the P1/P2/p puzzle.11
194702472009Globotriaosylceramide (Gb3) content in HeLa cells is correlated to Shiga toxin-induced cytotoxicity and Gb3 synthase expression.11
209618632011Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease.9
229652292012A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome.8
267735002016Human 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.8
211860712011Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.6

Citation

Dessen P

A4GALT (alpha 1,4-galactosyltransferase (P blood group))

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46235/a4galt