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

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000128274	ENST00000249005	Q9NPC4
ENSG00000128274	ENST00000249005	A0A0S2Z5J1
ENSG00000128274	ENST00000381278	Q9NPC4
ENSG00000128274	ENST00000381278	A0A0S2Z5J1
ENSG00000128274	ENST00000401850	Q9NPC4
ENSG00000128274	ENST00000401850	A0A0S2Z5J1
ENSG00000128274	ENST00000642412	Q9NPC4
ENSG00000128274	ENST00000642412	A0A0S2Z5J1

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Expression (GTEx)

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

Pathway	Source	External ID
Glycosphingolipid biosynthesis - globo and isoglobo series	KEGG	hsa00603
Glycosphingolipid biosynthesis - lacto and neolacto series	KEGG	ko00601
Glycosphingolipid biosynthesis - lacto and neolacto series	KEGG	hsa00601
Glycosphingolipid biosynthesis, globo-series, LacCer => Gb4Cer	KEGG	hsa_M00068
Glycosphingolipid biosynthesis, globo-series, LacCer => Gb4Cer	KEGG	M00068
Metabolic pathways	KEGG	hsa01100

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References

Pubmed ID	Year	Title	Citations
31374005	2019	The synonymous 903C>G mutation in the alpha 1,4-galactosyltransferase gene in a Chinese woman with habitual abortion: A case report.	1
32507026	2020	The interaction between flagellin and the glycosphingolipid Gb3 on host cells contributes to Bacillus cereus acute infection.	5
32507026	2020	The interaction between flagellin and the glycosphingolipid Gb3 on host cells contributes to Bacillus cereus acute infection.	5
32667820	2020	Two Thai Burmese descendants with A4GALT*01N.21, p phenotype, and anti-PP1Pk.	0
32667820	2020	Two Thai Burmese descendants with A4GALT*01N.21, p phenotype, and anti-PP1Pk.	0
33314439	2021	Blood group P1 prediction using multiplex PCR genotyping of A4GALT among Thai blood donors.	1
33314439	2021	Blood group P1 prediction using multiplex PCR genotyping of A4GALT among Thai blood donors.	1
33460651	2021	Human Gb3/CD77 synthase produces P1 glycotope-capped N-glycans, which mediate Shiga toxin 1 but not Shiga toxin 2 cell entry.	5
33460651	2021	Human Gb3/CD77 synthase produces P1 glycotope-capped N-glycans, which mediate Shiga toxin 1 but not Shiga toxin 2 cell entry.	5
33978735	2021	Missing the sweet spot: one of the two N-glycans on human Gb3/CD77 synthase is expendable.	1

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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))