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Protein

Alanine--glyoxylate aminotransferase 2, mitochondrial

Gene

AGXT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

Keywords - Molecular functioni

Aminotransferase, Transferase

Keywords - Ligandi

Pyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS03685-MONOMER.
ZFISH: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

HGNCiHGNC:14412. AGXT2.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial matrix Source: Reactome
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi64902.
OpenTargetsiENSG00000113492.
PharmGKBiPA24634.

Chemistry databases

DrugBankiDB00145. Glycine.
DB00160. L-Alanine.
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.
OMAiLRHVECI.
OrthoDBiEOG091G06LW.
PhylomeDBiQ9BYV1.
TreeFamiTF105945.

Family and domain databases

CDDicd00610. OAT_like. 1 hit.
Gene3Di3.40.640.10. 1 hit.
3.90.1150.10. 1 hit.
InterProiIPR005814. Aminotrans_3.
IPR015424. PyrdxlP-dep_Trfase.
IPR015421. PyrdxlP-dep_Trfase_major_sub1.
IPR015422. PyrdxlP-dep_Trfase_major_sub2.
[Graphical view]
PANTHERiPTHR11986. PTHR11986. 2 hits.
PfamiPF00202. Aminotran_3. 1 hit.
[Graphical view]
SUPFAMiSSF53383. SSF53383. 1 hit.
PROSITEiPS00600. AA_TRANSFER_CLASS_3. 1 hit.
[Graphical view]

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_061006102S → I.Corresponds to variant rs37370dbSNPEnsembl.1
Natural variantiVAR_023483102S → N.3 PublicationsCorresponds to variant rs37370dbSNPEnsembl.1
Natural variantiVAR_061007102S → T.Corresponds to variant rs37370dbSNPEnsembl.1
Natural variantiVAR_048231132G → R.Corresponds to variant rs16870794dbSNPEnsembl.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 rs37369dbSNPEnsembl.1
Natural variantiVAR_022141212T → I.3 PublicationsCorresponds to variant rs180749dbSNPEnsembl.1
Natural variantiVAR_048232492P → R.Corresponds to variant rs17245714dbSNPEnsembl.1
Natural variantiVAR_029513498V → L Polymorphism; higher plasma and urinary beta-aminoisobutyrate (BAIB) concentrations. 2 PublicationsCorresponds to variant rs16899974dbSNPEnsembl.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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9BYV1.
SMRiQ9BYV1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122342. 2 interactors.
IntActiQ9BYV1. 2 interactors.
STRINGi9606.ENSP00000231420.

Chemistry databases

DrugBankiDB00145. Glycine.
DB00160. L-Alanine.
DB00119. Pyruvic acid.

PTM databases

iPTMnetiQ9BYV1.
PhosphoSitePlusiQ9BYV1.

Polymorphism and mutation databases

BioMutaiAGXT2.
DMDMi17432913.

Proteomic databases

PaxDbiQ9BYV1.
PeptideAtlasiQ9BYV1.
PRIDEiQ9BYV1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi64902.
DisGeNETi64902.
GeneCardsiAGXT2.
HGNCiHGNC:14412. AGXT2.
HPAiHPA037382.
MIMi612471. gene.
neXtProtiNX_Q9BYV1.
OpenTargetsiENSG00000113492.
PharmGKBiPA24634.
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiAGXT2. human.
GenomeRNAii64902.
PROiQ9BYV1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000113492.
CleanExiHS_AGXT2.
GenevisibleiQ9BYV1. HS.

Family and domain databases

CDDicd00610. OAT_like. 1 hit.
Gene3Di3.40.640.10. 1 hit.
3.90.1150.10. 1 hit.
InterProiIPR005814. Aminotrans_3.
IPR015424. PyrdxlP-dep_Trfase.
IPR015421. PyrdxlP-dep_Trfase_major_sub1.
IPR015422. PyrdxlP-dep_Trfase_major_sub2.
[Graphical view]
PANTHERiPTHR11986. PTHR11986. 2 hits.
PfamiPF00202. Aminotran_3. 1 hit.
[Graphical view]
SUPFAMiSSF53383. SSF53383. 1 hit.
PROSITEiPS00600. AA_TRANSFER_CLASS_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiAGT2_HUMAN
AccessioniPrimary (citable) accession number: Q9BYV1
Secondary accession number(s): B7ZM47
, E9PDL7, Q53FB4, Q53FY7, Q53G03, Q5W7Q1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 5, 2001
Last sequence update: June 1, 2001
Last modified: November 2, 2016
This is version 134 of the entry and version 1 of the sequence. [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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.