UniProtKB - Q9BYV1 (AGT2_HUMAN)
Protein
Alanine--glyoxylate aminotransferase 2, mitochondrial
Gene
AGXT2
Organism
Homo sapiens (Human)
Status
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
Cofactori
GO - Molecular functioni
- (R)-3-amino-2-methylpropionate-pyruvate transaminase activity Source: UniProtKB-EC
- alanine-glyoxylate transaminase activity Source: UniProtKB
- pyridoxal phosphate binding Source: InterPro
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 function | Aminotransferase, Transferase |
Ligand | Pyridoxal phosphate |
Enzyme and pathway databases
BioCyci | MetaCyc:HS03685-MONOMER |
PathwayCommonsi | Q9BYV1 |
Reactomei | R-HSA-389661, Glyoxylate metabolism and glycine degradation R-HSA-73621, Pyrimidine catabolism |
Names & Taxonomyi
Protein namesi | |
Gene namesi | Name:AGXT2 Synonyms:AGT2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000113492.13 |
HGNCi | HGNC:14412, AGXT2 |
MIMi | 612471, gene |
neXtProti | NX_Q9BYV1 |
Subcellular locationi
Mitochondrion
- Mitochondrion 2 Publications
Mitochondrion
- mitochondrial matrix Source: Reactome
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Organism-specific databases
DisGeNETi | 64902 |
MalaCardsi | AGXT2 |
MIMi | 210100, phenotype |
OpenTargetsi | ENSG00000113492 |
PharmGKBi | PA24634 |
Miscellaneous databases
Pharosi | Q9BYV1, Tbio |
Chemistry databases
DrugBanki | DB00160, Alanine DB00145, Glycine DB00114, Pyridoxal phosphate DB00119, Pyruvic acid |
Polymorphism and mutation databases
BioMutai | AGXT2 |
DMDMi | 17432913 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 41 | Mitochondrion1 PublicationAdd BLAST | 41 | |
ChainiPRO_0000001269 | 42 – 514 | Alanine--glyoxylate aminotransferase 2, mitochondrialAdd BLAST | 473 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 71 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 71 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 84 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 262 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 262 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 304 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 350 | N6-(pyridoxal phosphate)lysineBy similarity | 1 | |
Modified residuei | 417 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 417 | N6-succinyllysine; alternateBy similarity | 1 | |
Modified residuei | 420 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 420 | N6-succinyllysine; alternateBy similarity | 1 |
Keywords - PTMi
AcetylationProteomic databases
MassIVEi | Q9BYV1 |
PaxDbi | Q9BYV1 |
PeptideAtlasi | Q9BYV1 |
PRIDEi | Q9BYV1 |
ProteomicsDBi | 19698 79711 [Q9BYV1-1] |
PTM databases
iPTMneti | Q9BYV1 |
PhosphoSitePlusi | Q9BYV1 |
Expressioni
Gene expression databases
Bgeei | ENSG00000113492, Expressed in kidney epithelium and 44 other tissues |
Genevisiblei | Q9BYV1, HS |
Organism-specific databases
HPAi | ENSG00000113492, Group enriched (kidney, liver) |
Interactioni
Subunit structurei
Homotetramer.
By similarityProtein-protein interaction databases
BioGRIDi | 122342, 3 interactors |
IntActi | Q9BYV1, 2 interactors |
STRINGi | 9606.ENSP00000231420 |
Miscellaneous databases
RNActi | Q9BYV1, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG1404, Eukaryota |
GeneTreei | ENSGT00940000156125 |
HOGENOMi | CLU_016922_8_0_1 |
InParanoidi | Q9BYV1 |
OMAi | GWGLING |
OrthoDBi | 145181at2759 |
PhylomeDBi | Q9BYV1 |
TreeFami | TF105945 |
Family and domain databases
CDDi | cd00610, OAT_like, 1 hit |
Gene3Di | 3.40.640.10, 1 hit 3.90.1150.10, 1 hit |
InterProi | View protein in InterPro IPR005814, Aminotrans_3 IPR015424, PyrdxlP-dep_Trfase IPR015422, PyrdxlP-dep_Trfase_dom1 IPR015421, PyrdxlP-dep_Trfase_major |
Pfami | View protein in Pfam PF00202, Aminotran_3, 1 hit |
PIRSFi | PIRSF000521, Transaminase_4ab_Lys_Orn, 1 hit |
SUPFAMi | SSF53383, SSF53383, 1 hit |
PROSITEi | View protein in PROSITE PS00600, AA_TRANSFER_CLASS_3, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q9BYV1-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_061006 | 102 | S → I. Corresponds to variant dbSNP:rs37370Ensembl. | 1 | |
Natural variantiVAR_023483 | 102 | S → N3 PublicationsCorresponds to variant dbSNP:rs37370Ensembl. | 1 | |
Natural variantiVAR_061007 | 102 | S → T. Corresponds to variant dbSNP:rs37370Ensembl. | 1 | |
Natural variantiVAR_048231 | 132 | G → R. Corresponds to variant dbSNP:rs16870794Ensembl. | 1 | |
Natural variantiVAR_022140 | 140 | V → 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_022141 | 212 | T → I3 PublicationsCorresponds to variant dbSNP:rs180749Ensembl. | 1 | |
Natural variantiVAR_048232 | 492 | P → R. Corresponds to variant dbSNP:rs17245714Ensembl. | 1 | |
Natural variantiVAR_029513 | 498 | V → L Polymorphism; higher plasma and urinary beta-aminoisobutyrate (BAIB) concentrations. 2 PublicationsCorresponds to variant dbSNP:rs16899974Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_055802 | 321 – 395 | Missing in isoform 2. 1 PublicationAdd BLAST | 75 |
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 |
CCDSi | CCDS3908.1 [Q9BYV1-1] CCDS78000.1 [Q9BYV1-2] |
RefSeqi | NP_001293102.1, NM_001306173.1 [Q9BYV1-2] NP_114106.1, NM_031900.3 [Q9BYV1-1] XP_016865237.1, XM_017009748.1 [Q9BYV1-2] |
Genome annotation databases
Ensembli | ENST00000231420; ENSP00000231420; ENSG00000113492 [Q9BYV1-1] ENST00000510428; ENSP00000422799; ENSG00000113492 [Q9BYV1-2] ENST00000618015; ENSP00000479154; ENSG00000113492 [Q9BYV1-2] |
GeneIDi | 64902 |
KEGGi | hsa:64902 |
UCSCi | uc003jjf.4, human [Q9BYV1-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS3908.1 [Q9BYV1-1] CCDS78000.1 [Q9BYV1-2] |
RefSeqi | NP_001293102.1, NM_001306173.1 [Q9BYV1-2] NP_114106.1, NM_031900.3 [Q9BYV1-1] XP_016865237.1, XM_017009748.1 [Q9BYV1-2] |
3D structure databases
SMRi | Q9BYV1 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 122342, 3 interactors |
IntActi | Q9BYV1, 2 interactors |
STRINGi | 9606.ENSP00000231420 |
Chemistry databases
DrugBanki | DB00160, Alanine DB00145, Glycine DB00114, Pyridoxal phosphate DB00119, Pyruvic acid |
PTM databases
iPTMneti | Q9BYV1 |
PhosphoSitePlusi | Q9BYV1 |
Polymorphism and mutation databases
BioMutai | AGXT2 |
DMDMi | 17432913 |
Proteomic databases
MassIVEi | Q9BYV1 |
PaxDbi | Q9BYV1 |
PeptideAtlasi | Q9BYV1 |
PRIDEi | Q9BYV1 |
ProteomicsDBi | 19698 79711 [Q9BYV1-1] |
Protocols and materials databases
Antibodypediai | 43482, 136 antibodies |
Genome annotation databases
Ensembli | ENST00000231420; ENSP00000231420; ENSG00000113492 [Q9BYV1-1] ENST00000510428; ENSP00000422799; ENSG00000113492 [Q9BYV1-2] ENST00000618015; ENSP00000479154; ENSG00000113492 [Q9BYV1-2] |
GeneIDi | 64902 |
KEGGi | hsa:64902 |
UCSCi | uc003jjf.4, human [Q9BYV1-1] |
Organism-specific databases
CTDi | 64902 |
DisGeNETi | 64902 |
EuPathDBi | HostDB:ENSG00000113492.13 |
GeneCardsi | AGXT2 |
HGNCi | HGNC:14412, AGXT2 |
HPAi | ENSG00000113492, Group enriched (kidney, liver) |
MalaCardsi | AGXT2 |
MIMi | 210100, phenotype 612471, gene |
neXtProti | NX_Q9BYV1 |
OpenTargetsi | ENSG00000113492 |
PharmGKBi | PA24634 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1404, Eukaryota |
GeneTreei | ENSGT00940000156125 |
HOGENOMi | CLU_016922_8_0_1 |
InParanoidi | Q9BYV1 |
OMAi | GWGLING |
OrthoDBi | 145181at2759 |
PhylomeDBi | Q9BYV1 |
TreeFami | TF105945 |
Enzyme and pathway databases
BioCyci | MetaCyc:HS03685-MONOMER |
PathwayCommonsi | Q9BYV1 |
Reactomei | R-HSA-389661, Glyoxylate metabolism and glycine degradation R-HSA-73621, Pyrimidine catabolism |
Miscellaneous databases
BioGRID-ORCSi | 64902, 1 hit in 844 CRISPR screens |
ChiTaRSi | AGXT2, human |
GenomeRNAii | 64902 |
Pharosi | Q9BYV1, Tbio |
PROi | PR:Q9BYV1 |
RNActi | Q9BYV1, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000113492, Expressed in kidney epithelium and 44 other tissues |
Genevisiblei | Q9BYV1, HS |
Family and domain databases
CDDi | cd00610, OAT_like, 1 hit |
Gene3Di | 3.40.640.10, 1 hit 3.90.1150.10, 1 hit |
InterProi | View protein in InterPro IPR005814, Aminotrans_3 IPR015424, PyrdxlP-dep_Trfase IPR015422, PyrdxlP-dep_Trfase_dom1 IPR015421, PyrdxlP-dep_Trfase_major |
Pfami | View protein in Pfam PF00202, Aminotran_3, 1 hit |
PIRSFi | PIRSF000521, Transaminase_4ab_Lys_Orn, 1 hit |
SUPFAMi | SSF53383, SSF53383, 1 hit |
PROSITEi | View protein in PROSITE PS00600, AA_TRANSFER_CLASS_3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AGT2_HUMAN | |
Accessioni | Q9BYV1Primary (citable) accession number: Q9BYV1 Secondary accession number(s): B7ZM47 Q5W7Q1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 5, 2001 |
Last sequence update: | June 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 159 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations