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Protein

Alanine--glyoxylate aminotransferase 2, mitochondrial

Gene

AGXT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Can metabolize asymmetric dimethylarginine (ADMA) via transamination to alpha-keto-delta-(NN-dimethylguanidino) valeric acid (DMGV). ADMA is a potent inhibitor of nitric-oxide (NO) synthase, and this activity provides mechanism through which the kidney regulates blood pressure.3 Publications

Catalytic activityi

L-alanine + glyoxylate = pyruvate + glycine.
(R)-3-amino-2-methylpropanoate + pyruvate = 2-methyl-3-oxopropanoate + L-alanine.

Cofactori

GO - Molecular functioni

GO - Biological processi

  • glycine biosynthetic process, by transamination of glyoxylate Source: BHF-UCL
  • glyoxylate catabolic process Source: BHF-UCL
  • glyoxylate metabolic process Source: Reactome
  • L-alanine catabolic process, by transamination Source: BHF-UCL
  • positive regulation of nitric oxide biosynthetic process Source: BHF-UCL

Keywordsi

Molecular functionAminotransferase, Transferase
LigandPyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS03685-MONOMER
ReactomeiR-HSA-389661 Glyoxylate metabolism and glycine degradation
R-HSA-73621 Pyrimidine catabolism

Names & Taxonomyi

Protein namesi
Recommended name:
Alanine--glyoxylate aminotransferase 2, mitochondrial (EC:2.6.1.44)
Short name:
AGT 2
Alternative name(s):
(R)-3-amino-2-methylpropionate--pyruvate transaminase (EC:2.6.1.40)
Beta-ALAAT II
Beta-alanine-pyruvate aminotransferase
D-AIBAT
Gene namesi
Name:AGXT2
Synonyms:AGT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000113492.13
HGNCiHGNC:14412 AGXT2
MIMi612471 gene
neXtProtiNX_Q9BYV1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi64902
MalaCardsiAGXT2
MIMi210100 phenotype
OpenTargetsiENSG00000113492
PharmGKBiPA24634

Chemistry databases

DrugBankiDB00145 Glycine
DB00160 L-Alanine
DB00114 Pyridoxal Phosphate
DB00119 Pyruvic acid

Polymorphism and mutation databases

BioMutaiAGXT2
DMDMi17432913

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 41Mitochondrion1 PublicationAdd BLAST41
ChainiPRO_000000126942 – 514Alanine--glyoxylate aminotransferase 2, mitochondrialAdd BLAST473

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei71N6-acetyllysine; alternateBy similarity1
Modified residuei71N6-succinyllysine; alternateBy similarity1
Modified residuei84N6-acetyllysineBy similarity1
Modified residuei262N6-acetyllysine; alternateBy similarity1
Modified residuei262N6-succinyllysine; alternateBy similarity1
Modified residuei304N6-succinyllysineBy similarity1
Modified residuei350N6-(pyridoxal phosphate)lysineBy similarity1
Modified residuei417N6-acetyllysine; alternateBy similarity1
Modified residuei417N6-succinyllysine; alternateBy similarity1
Modified residuei420N6-acetyllysine; alternateBy similarity1
Modified residuei420N6-succinyllysine; alternateBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiQ9BYV1
PeptideAtlasiQ9BYV1
PRIDEiQ9BYV1

PTM databases

iPTMnetiQ9BYV1
PhosphoSitePlusiQ9BYV1

Expressioni

Gene expression databases

BgeeiENSG00000113492
CleanExiHS_AGXT2
GenevisibleiQ9BYV1 HS

Organism-specific databases

HPAiHPA037382

Interactioni

Subunit structurei

Homotetramer.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122342, 2 interactors
IntActiQ9BYV1, 2 interactors
STRINGi9606.ENSP00000231420

Structurei

3D structure databases

ProteinModelPortaliQ9BYV1
SMRiQ9BYV1
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1404 Eukaryota
COG0160 LUCA
GeneTreeiENSGT00530000062907
HOGENOMiHOG000020206
HOVERGENiHBG004196
InParanoidiQ9BYV1
KOiK00827
OMAiGIATCTL
OrthoDBiEOG091G06LW
PhylomeDBiQ9BYV1
TreeFamiTF105945

Family and domain databases

CDDicd00610 OAT_like, 1 hit
Gene3Di3.40.640.10, 1 hit
3.90.1150.10, 2 hits
InterProiView protein in InterPro
IPR005814 Aminotrans_3
IPR015424 PyrdxlP-dep_Trfase
IPR015422 PyrdxlP-dep_Trfase_dom1
IPR015421 PyrdxlP-dep_Trfase_major
PfamiView protein in Pfam
PF00202 Aminotran_3, 1 hit
PIRSFiPIRSF000521 Transaminase_4ab_Lys_Orn, 1 hit
SUPFAMiSSF53383 SSF53383, 1 hit
PROSITEiView protein in PROSITE
PS00600 AA_TRANSFER_CLASS_3, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9BYV1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MTLIWRHLLR PLCLVTSAPR ILEMHPFLSL GTSRTSVTKL SLHTKPRMPP
60 70 80 90 100
CDFMPERYQS LGYNRVLEIH KEHLSPVVTA YFQKPLLLHQ GHMEWLFDAE
110 120 130 140 150
GSRYLDFFSG IVTVSVGHCH PKVNAVAQKQ LGRLWHTSTV FFHPPMHEYA
160 170 180 190 200
EKLAALLPEP LKVIFLVNSG SEANELAMLM ARAHSNNIDI ISFRGAYHGC
210 220 230 240 250
SPYTLGLTNV GTYKMELPGG TGCQPTMCPD VFRGPWGGSH CRDSPVQTIR
260 270 280 290 300
KCSCAPDCCQ AKDQYIEQFK DTLSTSVAKS IAGFFAEPIQ GVNGVVQYPK
310 320 330 340 350
GFLKEAFELV RARGGVCIAD EVQTGFGRLG SHFWGFQTHD VLPDIVTMAK
360 370 380 390 400
GIGNGFPMAA VITTPEIAKS LAKCLQHFNT FGGNPMACAI GSAVLEVIKE
410 420 430 440 450
ENLQENSQEV GTYMLLKFAK LRDEFEIVGD VRGKGLMIGI EMVQDKISCR
460 470 480 490 500
PLPREEVNQI HEDCKHMGLL VGRGSIFSQT FRIAPSMCIT KPEVDFAVEV
510
FRSALTQHME RRAK
Length:514
Mass (Da):57,156
Last modified:June 1, 2001 - v1
Checksum:iCA562F84FF39B5AC
GO
Isoform 2 (identifier: Q9BYV1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     321-395: Missing.

Note: No experimental confirmation available.
Show »
Length:439
Mass (Da):49,297
Checksum:i00C1D064946D2A8F
GO

Polymorphismi

Genetic variants in AGXT2 are association with beta-aminoisobutyric aciduria (BAIBA)[MIMi:210100]. Excretion of beta-aminoisobutyric acid in urine is a common, benign, metabolic trait.1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061006102S → I. Corresponds to variant dbSNP:rs37370Ensembl.1
Natural variantiVAR_023483102S → N3 PublicationsCorresponds to variant dbSNP:rs37370Ensembl.1
Natural variantiVAR_061007102S → T. Corresponds to variant dbSNP:rs37370Ensembl.1
Natural variantiVAR_048231132G → R. Corresponds to variant dbSNP:rs16870794Ensembl.1
Natural variantiVAR_022140140V → I Polymorphism; associated with an increased risk for coronary heart disease (CHD) in smoker and diabetic mellitus (DM) patients in a Chinese population; higher plasma symmetric (SDMA) dimethylarginine as well as plasma and urinary beta-aminoisobutyrate (BAIB) concentrations; localized to the mitochondrion as the wild-type; reduces alanine-glyoxylate aminotransferase activity. 4 PublicationsCorresponds to variant dbSNP:rs37369EnsemblClinVar.1
Natural variantiVAR_022141212T → I3 PublicationsCorresponds to variant dbSNP:rs180749Ensembl.1
Natural variantiVAR_048232492P → R. Corresponds to variant dbSNP:rs17245714Ensembl.1
Natural variantiVAR_029513498V → L Polymorphism; higher plasma and urinary beta-aminoisobutyrate (BAIB) concentrations. 2 PublicationsCorresponds to variant dbSNP:rs16899974Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055802321 – 395Missing in isoform 2. 1 PublicationAdd BLAST75

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ292204 mRNA Translation: CAC24841.1
AB193309 mRNA Translation: BAD66662.1
AK223128 mRNA Translation: BAD96848.1
AK223144 mRNA No translation available.
AK223375 mRNA Translation: BAD97095.1
AC010368 Genomic DNA No translation available.
BC144268 mRNA Translation: AAI44269.1
BC150603 mRNA Translation: AAI50604.1
CCDSiCCDS3908.1 [Q9BYV1-1]
CCDS78000.1 [Q9BYV1-2]
RefSeqiNP_001293102.1, NM_001306173.1 [Q9BYV1-2]
NP_114106.1, NM_031900.3 [Q9BYV1-1]
XP_016865237.1, XM_017009748.1 [Q9BYV1-2]
UniGeneiHs.34494

Genome annotation databases

EnsembliENST00000231420; ENSP00000231420; ENSG00000113492 [Q9BYV1-1]
ENST00000510428; ENSP00000422799; ENSG00000113492 [Q9BYV1-2]
ENST00000618015; ENSP00000479154; ENSG00000113492 [Q9BYV1-2]
GeneIDi64902
KEGGihsa:64902
UCSCiuc003jjf.4 human [Q9BYV1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAGT2_HUMAN
AccessioniPrimary (citable) accession number: Q9BYV1
Secondary accession number(s): B7ZM47
, E9PDL7, Q53FB4, Q53FY7, Q53G03, Q5W7Q1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: June 1, 2001
Last modified: May 23, 2018
This is version 143 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

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