AGXT

Protein identityUniProt · HPA

UniProt accession

P21549

Gene

AGXT

Ensembl

ENSG00000172482

Chromosome

2

Canonical length

392 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Vesicles

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

392 residues, UniProt reviewed canonical sequence.

>P21549|AGXT
     1  MASHKLLVTP PKALLKPLSI PNQLLLGPGP SNLPPRIMAA GGLQMIGSMS KDMYQIMDEI
    61  KEGIQYVFQT RNPLTLVISG SGHCALEAAL VNVLEPGDSF LVGANGIWGQ RAVDIGERIG
   121  ARVHPMTKDP GGHYTLQEVE EGLAQHKPVL LFLTHGESST GVLQPLDGFG ELCHRYKCLL
   181  LVDSVASLGG TPLYMDRQGI DILYSGSQKA LNAPPGTSLI SFSDKAKKKM YSRKTKPFSF
   241  YLDIKWLANF WGCDDQPRMY HHTIPVISLY SLRESLALIA EQGLENSWRQ HREAAAYLHG
   301  RLQALGLQLF VKDPALRLPT VTTVAVPAGY DWRDIVSYVI DHFDIEIMGG LGPSTGKVLR
   361  IGLLGCNATR ENVDRVTEAL RAALQHCPKK KL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AGXT can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

1,192 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AGXT.

Disease | AllUniProt

Conditions AGXT is implicated in, by any mechanism.

• Hyperoxaluria primary 1 (HP1) MIM:259900

Disease | GeneticClinVar

343 pathogenic / likely-pathogenic of 1,033 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Primary hyperoxaluria, type I
• Primary hyperoxaluria
• AGXT-related disorder
• Nephrocalcinosis
• Kidney stone

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.03

gnomAD pLI

0

gnomAD missense Z

-0.27

DepMap mean gene effect

0.05

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• glycine biosynthetic process, by transamination of glyoxylate
• glyoxylate catabolic process
• glyoxylate metabolic process
• L-alanine catabolic process
• L-cysteine catabolic process
• L-serine metabolic process
• Notch signaling pathway
• oxalic acid secretion

Molecular functions

• alanine-glyoxylate transaminase activity
• amino acid binding
• identical protein binding
• protein homodimerization activity
• pyridoxal phosphate binding
• transaminase activity
• L-serine-pyruvate transaminase activity

Cellular components

• cytosol
• peroxisomal matrix
• peroxisome

Protein domainsUniProt · Pfam · InterPro

• Aminotransferase class V domain
• Pyridoxal phosphate-dependent transferase, major domain
• Pyridoxal phosphate-dependent transferase, small domain
• Pyridoxal phosphate-dependent transferase
• Aminotransferase class-V, pyridoxal-phosphate binding site
• Aminotransferase class-V
• Serine-pyruvate aminotransferase/2-aminoethylphosphonate-pyruvate transaminase

KeywordsUniProt

• Acetylation
• Aminotransferase
• Peroxisome
• Phosphoprotein
• Pyridoxal phosphate
• Transferase