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AGXT alanine--glyoxylate and serine--pyruvate aminotransferase [ Homo sapiens (human) ]

Gene ID: 189, updated on 13-Mar-2020

Summary

Official Symbol
AGXTprovided by HGNC
Official Full Name
alanine--glyoxylate and serine--pyruvate aminotransferaseprovided by HGNC
Primary source
HGNC:HGNC:341
See related
Ensembl:ENSG00000172482 MIM:604285
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AGT; PH1; SPT; AGT1; SPAT; TLH6; AGXT1
Summary
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]
Expression
Restricted expression toward liver (RPKM 387.9) See more
Orthologs

Genomic context

See AGXT in Genome Data Viewer
Location:
2q37.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (240868824..240880500)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241808162..241818536)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene aquaporin 12A Neighboring gene kinesin family member 1A Neighboring gene mab-21 like 4 Neighboring gene ciliary rootlet coiled-coil, rootletin family member 2 Neighboring gene uncharacterized LOC112268440

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
alanine-glyoxylate transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
alanine-glyoxylate transaminase activity IDA
Inferred from Direct Assay
more info
PubMed 
alanine-glyoxylate transaminase activity TAS
Traceable Author Statement
more info
PubMed 
amino acid binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
protein self-association IDA
Inferred from Direct Assay
more info
PubMed 
pyridoxal phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
pyridoxal phosphate binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
serine-pyruvate transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transaminase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
L-alanine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
L-cysteine catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
glycine biosynthetic process, by transamination of glyoxylate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glycine biosynthetic process, by transamination of glyoxylate IDA
Inferred from Direct Assay
more info
PubMed 
glyoxylate catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
glyoxylate metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxalic acid secretion IEA
Inferred from Electronic Annotation
more info
 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
pyruvate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
response to cAMP IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
 
peroxisomal matrix IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal matrix TAS
Traceable Author Statement
more info
 
peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
serine--pyruvate aminotransferase
Names
L-alanine: glyoxylate aminotransferase 1
alanine-glyoxylate aminotransferase
hepatic peroxisomal alanine:glyoxylate aminotransferase
NP_000021.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008005.1 RefSeqGene

    Range
    5080..16756
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000030.3NP_000021.1  serine--pyruvate aminotransferase

    See identical proteins and their annotated locations for NP_000021.1

    Status: REVIEWED

    Source sequence(s)
    AA857309, AC104809, CB156891, X53414
    Consensus CDS
    CCDS2543.1
    UniProtKB/Swiss-Prot
    P21549
    Related
    ENSP00000302620.3, ENST00000307503.4
    Conserved Domains (1) summary
    cd06451
    Location:24385
    AGAT_like; Alanine-glyoxylate aminotransferase (AGAT) family. This family belongs to pyridoxal phosphate (PLP)-dependent aspartate aminotransferase superfamily (fold I). The major groups in this CD correspond to alanine-glyoxylate aminotransferase (AGAT), ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    240868824..240880500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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