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

Gene ID: 189, updated on 12-Dec-2023

Summary

Official Symbol
AGXTprovided by HGNC
Official Full Name
alanine--glyoxylate aminotransferaseprovided by HGNC
Primary source
HGNC:HGNC:341
See related
Ensembl:ENSG00000172482 MIM:604285; AllianceGenome:HGNC:341
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; Ser-PyrAT
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
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Genomic context

See AGXT in Genome Data Viewer
Location:
2q37.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (240868824..240880500)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (241367223..241379660)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (241808241..241819917)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241637868-241638651 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:241646918-241647077 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241651331-241652138 Neighboring gene aquaporin 12A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241673162-241673662 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:241678910-241680109 Neighboring gene kinesin family member 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241736458-241736958 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241736959-241737459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241737588-241738429 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241751150-241751760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241756052-241756691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241760048-241760622 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241771685-241772681 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241778610-241779110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241807760-241808260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241834201-241834836 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:241836109-241836744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241841593-241842094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241842095-241842594 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:241844406-241844906 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

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in peroxisomal matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in peroxisomal matrix TAS
Traceable Author Statement
more info
 
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in peroxisome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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  alanine--glyoxylate 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, Q53QU6
    UniProtKB/TrEMBL
    A2V838
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    241367223..241379660
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)