AGXT (alanine--glyoxylate and serine--pyruvate aminotransferase)

2014-11-01 Affiliation

Identity

HGNC

AGXT

LOCATION

2q37.3

LOCUSID

189

ALIAS

AGT,AGT1,AGXT1,PH1,SPAT,SPT,TLH6

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: 189
MIM: 604285
HGNC: 341
Ensembl: ENSG00000172482

Variants:

dbSNP: 189
ClinVar: 189
TCGA: ENSG00000172482
COSMIC: AGXT

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000172482	ENST00000307503	P21549

Expression (GTEx)

500

1000

1500

2000

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
Glycine, serine and threonine metabolism	KEGG	ko00260
Glyoxylate and dicarboxylate metabolism	KEGG	ko00630
Glycine, serine and threonine metabolism	KEGG	hsa00260
Glyoxylate and dicarboxylate metabolism	KEGG	hsa00630
Alanine, aspartate and glutamate metabolism	KEGG	ko00250
Alanine, aspartate and glutamate metabolism	KEGG	hsa00250
Peroxisome	KEGG	ko04146
Peroxisome	KEGG	hsa04146
Metabolic pathways	KEGG	hsa01100
Carbon metabolism	KEGG	hsa01200
Carbon metabolism	KEGG	ko01200
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Glyoxylate metabolism and glycine degradation	REACTOME	R-HSA-389661

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
12899834	2003	Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1.	31
17110443	2006	Alanine-glyoxylate aminotransferase-deficient mice, a model for primary hyperoxaluria that responds to adenoviral gene transfer.	30
15961951	2005	Molecular etiology of primary hyperoxaluria type 1: new directions for treatment.	24
15253729	2004	Clinical implications of mutation analysis in primary hyperoxaluria type 1.	22
23229545	2013	Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.	22
15327387	2004	Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.	21
20016466	2010	Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.	21
20016466	2010	Genotype-phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome.	21
17495019	2007	Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.	18
17495019	2007	Selected exonic sequencing of the AGXT gene provides a genetic diagnosis in 50% of patients with primary hyperoxaluria type 1.	18

Citation

Dessen P

AGXT (alanine--glyoxylate and serine--pyruvate aminotransferase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60211/agxt