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

2007-02-01  

Identity

HGNC
A4GALT
LOCATION
22q13.2
LOCUSID
53947
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
385017482024Identification of a novel A4GALT*299A allele associated with the rare p phenotype in one Chinese family.0
385017482024Identification of a novel A4GALT*299A allele associated with the rare p phenotype in one Chinese family.0
359291002022Identification of a novel P1PK allele (A4GALT*c.1-504_1044del1548) in two Chinese sisters with a history of recurrent spontaneous abortion.0
359291002022Identification of a novel P1PK allele (A4GALT*c.1-504_1044del1548) in two Chinese sisters with a history of recurrent spontaneous abortion.0
333144392021Blood group P1 prediction using multiplex PCR genotyping of A4GALT among Thai blood donors.1
334606512021Human Gb3/CD77 synthase produces P1 glycotope-capped N-glycans, which mediate Shiga toxin 1 but not Shiga toxin 2 cell entry.5
339787352021Missing the sweet spot: one of the two N-glycans on human Gb3/CD77 synthase is expendable.1
333144392021Blood group P1 prediction using multiplex PCR genotyping of A4GALT among Thai blood donors.1
334606512021Human Gb3/CD77 synthase produces P1 glycotope-capped N-glycans, which mediate Shiga toxin 1 but not Shiga toxin 2 cell entry.5
339787352021Missing the sweet spot: one of the two N-glycans on human Gb3/CD77 synthase is expendable.1
325070262020The interaction between flagellin and the glycosphingolipid Gb3 on host cells contributes to Bacillus cereus acute infection.5
326678202020Two Thai Burmese descendants with A4GALT*01N.21, p phenotype, and anti-PP1Pk.0
325070262020The interaction between flagellin and the glycosphingolipid Gb3 on host cells contributes to Bacillus cereus acute infection.5
326678202020Two Thai Burmese descendants with A4GALT*01N.21, p phenotype, and anti-PP1Pk.0
313740052019The synonymous 903C>G mutation in the alpha 1,4-galactosyltransferase gene in a Chinese woman with habitual abortion: A case report.1

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-(alpha-1-4-galactosyltransferase-(p-blood-group))