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Q9BYV1

- AGT2_HUMAN

UniProt

Q9BYV1 - AGT2_HUMAN

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Protein
Alanine--glyoxylate aminotransferase 2, mitochondrial
Gene
AGXT2, AGT2
Organism
Homo sapiens (Human)
Status
Reviewed - 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.2 Publications

Catalytic activityi

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

Cofactori

Pyridoxal phosphate.

GO - Molecular functioni

  1. (R)-3-amino-2-methylpropionate-pyruvate transaminase activity Source: UniProtKB-EC
  2. alanine-glyoxylate transaminase activity Source: BHF-UCL
  3. beta-alanine-pyruvate transaminase activity Source: Ensembl
  4. pyridoxal phosphate binding Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. L-alanine catabolic process, by transamination Source: BHF-UCL
  2. cellular nitrogen compound metabolic process Source: Reactome
  3. glycine biosynthetic process, by transamination of glyoxylate Source: BHF-UCL
  4. glyoxylate catabolic process Source: BHF-UCL
  5. glyoxylate metabolic process Source: Reactome
  6. nucleobase-containing small molecule metabolic process Source: Reactome
  7. positive regulation of nitric oxide biosynthetic process Source: BHF-UCL
  8. pyrimidine nucleobase metabolic process Source: Reactome
  9. pyrimidine nucleoside catabolic process Source: Reactome
  10. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Aminotransferase, Transferase

Keywords - Ligandi

Pyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS03685-MONOMER.
ReactomeiREACT_1023. Pyrimidine catabolism.
REACT_16925. Glyoxylate metabolism.

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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:14412. AGXT2.

Subcellular locationi

Mitochondrion 1 Publication

GO - Cellular componenti

  1. mitochondrial matrix Source: Reactome
  2. mitochondrion Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24634.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 4141Mitochondrion1 Publication
Add
BLAST
Chaini42 – 514473Alanine--glyoxylate aminotransferase 2, mitochondrial
PRO_0000001269Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei71 – 711N6-acetyllysine; alternate By similarity
Modified residuei71 – 711N6-succinyllysine; alternate By similarity
Modified residuei84 – 841N6-acetyllysine By similarity
Modified residuei262 – 2621N6-acetyllysine; alternate By similarity
Modified residuei262 – 2621N6-succinyllysine; alternate By similarity
Modified residuei304 – 3041N6-succinyllysine By similarity
Modified residuei350 – 3501N6-(pyridoxal phosphate)lysine By similarity
Modified residuei417 – 4171N6-acetyllysine; alternate By similarity
Modified residuei417 – 4171N6-succinyllysine; alternate By similarity
Modified residuei420 – 4201N6-acetyllysine; alternate By similarity
Modified residuei420 – 4201N6-succinyllysine; alternate By similarity

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiQ9BYV1.
PRIDEiQ9BYV1.

PTM databases

PhosphoSiteiQ9BYV1.

Expressioni

Gene expression databases

ArrayExpressiQ9BYV1.
BgeeiQ9BYV1.
CleanExiHS_AGXT2.
GenevestigatoriQ9BYV1.

Organism-specific databases

HPAiHPA037382.

Interactioni

Subunit structurei

Homotetramer By similarity.

Protein-protein interaction databases

BioGridi122342. 2 interactions.
IntActiQ9BYV1. 2 interactions.
STRINGi9606.ENSP00000231420.

Structurei

3D structure databases

ProteinModelPortaliQ9BYV1.
SMRiQ9BYV1. Positions 61-512.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0160.
HOGENOMiHOG000020206.
HOVERGENiHBG004196.
InParanoidiQ9BYV1.
KOiK00827.
OMAiQHFNTFG.
OrthoDBiEOG79KPF2.
PhylomeDBiQ9BYV1.
TreeFamiTF105945.

Family and domain databases

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. 1 hit.
PfamiPF00202. Aminotran_3. 1 hit.
[Graphical view]
PIRSFiPIRSF000521. Transaminase_4ab_Lys_Orn. 1 hit.
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. Align

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

MTLIWRHLLR PLCLVTSAPR ILEMHPFLSL GTSRTSVTKL SLHTKPRMPP    50
CDFMPERYQS LGYNRVLEIH KEHLSPVVTA YFQKPLLLHQ GHMEWLFDAE 100
GSRYLDFFSG IVTVSVGHCH PKVNAVAQKQ LGRLWHTSTV FFHPPMHEYA 150
EKLAALLPEP LKVIFLVNSG SEANELAMLM ARAHSNNIDI ISFRGAYHGC 200
SPYTLGLTNV GTYKMELPGG TGCQPTMCPD VFRGPWGGSH CRDSPVQTIR 250
KCSCAPDCCQ AKDQYIEQFK DTLSTSVAKS IAGFFAEPIQ GVNGVVQYPK 300
GFLKEAFELV RARGGVCIAD EVQTGFGRLG SHFWGFQTHD VLPDIVTMAK 350
GIGNGFPMAA VITTPEIAKS LAKCLQHFNT FGGNPMACAI GSAVLEVIKE 400
ENLQENSQEV GTYMLLKFAK LRDEFEIVGD VRGKGLMIGI EMVQDKISCR 450
PLPREEVNQI HEDCKHMGLL VGRGSIFSQT FRIAPSMCIT KPEVDFAVEV 500
FRSALTQHME RRAK 514
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti102 – 1021S → I.
Corresponds to variant rs37370 [ dbSNP | Ensembl ].
VAR_061006
Natural varianti102 – 1021S → N.2 Publications
Corresponds to variant rs37370 [ dbSNP | Ensembl ].
VAR_023483
Natural varianti102 – 1021S → T.
Corresponds to variant rs37370 [ dbSNP | Ensembl ].
VAR_061007
Natural varianti132 – 1321G → R.
Corresponds to variant rs16870794 [ dbSNP | Ensembl ].
VAR_048231
Natural varianti140 – 1401V → I.2 Publications
Corresponds to variant rs37369 [ dbSNP | Ensembl ].
VAR_022140
Natural varianti212 – 2121T → I.2 Publications
Corresponds to variant rs180749 [ dbSNP | Ensembl ].
VAR_022141
Natural varianti492 – 4921P → R.
Corresponds to variant rs17245714 [ dbSNP | Ensembl ].
VAR_048232
Natural varianti498 – 4981V → L.1 Publication
Corresponds to variant rs16899974 [ dbSNP | Ensembl ].
VAR_029513

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei321 – 39575Missing in isoform 2.
VSP_055802Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
RefSeqiNP_114106.1. NM_031900.3.
UniGeneiHs.34494.

Genome annotation databases

EnsembliENST00000231420; ENSP00000231420; ENSG00000113492.
ENST00000510428; ENSP00000422799; ENSG00000113492.
GeneIDi64902.
KEGGihsa:64902.
UCSCiuc003jjf.3. human.

Polymorphism databases

DMDMi17432913.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
RefSeqi NP_114106.1. NM_031900.3.
UniGenei Hs.34494.

3D structure databases

ProteinModelPortali Q9BYV1.
SMRi Q9BYV1. Positions 61-512.
ModBasei Search...

Protein-protein interaction databases

BioGridi 122342. 2 interactions.
IntActi Q9BYV1. 2 interactions.
STRINGi 9606.ENSP00000231420.

Chemistry

DrugBanki DB00145. Glycine.
DB00160. L-Alanine.
DB00114. Pyridoxal Phosphate.
DB00119. Pyruvic acid.

PTM databases

PhosphoSitei Q9BYV1.

Polymorphism databases

DMDMi 17432913.

Proteomic databases

PaxDbi Q9BYV1.
PRIDEi Q9BYV1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000231420 ; ENSP00000231420 ; ENSG00000113492 .
ENST00000510428 ; ENSP00000422799 ; ENSG00000113492 .
GeneIDi 64902.
KEGGi hsa:64902.
UCSCi uc003jjf.3. human.

Organism-specific databases

CTDi 64902.
GeneCardsi GC05M035033.
HGNCi HGNC:14412. AGXT2.
HPAi HPA037382.
MIMi 612471. gene.
neXtProti NX_Q9BYV1.
PharmGKBi PA24634.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0160.
HOGENOMi HOG000020206.
HOVERGENi HBG004196.
InParanoidi Q9BYV1.
KOi K00827.
OMAi QHFNTFG.
OrthoDBi EOG79KPF2.
PhylomeDBi Q9BYV1.
TreeFami TF105945.

Enzyme and pathway databases

BioCyci MetaCyc:HS03685-MONOMER.
Reactomei REACT_1023. Pyrimidine catabolism.
REACT_16925. Glyoxylate metabolism.

Miscellaneous databases

ChiTaRSi AGXT2. human.
GenomeRNAii 64902.
NextBioi 67053.
PROi Q9BYV1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BYV1.
Bgeei Q9BYV1.
CleanExi HS_AGXT2.
Genevestigatori Q9BYV1.

Family and domain databases

Gene3Di 3.40.640.10. 1 hit.
3.90.1150.10. 1 hit.
InterProi IPR005814. Aminotrans_3.
IPR015424. PyrdxlP-dep_Trfase.
IPR015421. PyrdxlP-dep_Trfase_major_sub1.
IPR015422. PyrdxlP-dep_Trfase_major_sub2.
[Graphical view ]
PANTHERi PTHR11986. PTHR11986. 1 hit.
Pfami PF00202. Aminotran_3. 1 hit.
[Graphical view ]
PIRSFi PIRSF000521. Transaminase_4ab_Lys_Orn. 1 hit.
SUPFAMi SSF53383. SSF53383. 1 hit.
PROSITEi PS00600. AA_TRANSFER_CLASS_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human ortholog for rat alanine-glyoxylate aminotransferase 2."
    Jenne D.E.
    Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. "Human beta-alanine-pyruvate aminotransferase cDNA."
    Matsuda K., Horikawa Y., Kaneko M., Sakata S., Tamaki N.
    Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS ASN-102; ILE-140 AND ILE-212.
  3. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS ASN-102; ILE-140; ILE-212 AND LEU-498.
    Tissue: Kidney.
  4. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANTS ASN-102 AND ILE-212.
    Tissue: Testis.
  6. "Human alanine-glyoxylate aminotransferase 2 lowers asymmetric dimethylarginine and protects from inhibition of nitric oxide production."
    Rodionov R.N., Murry D.J., Vaulman S.F., Stevens J.W., Lentz S.R.
    J. Biol. Chem. 285:5385-5391(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF N-TERMINUS, FUNCTION, TRANSIT PEPTIDE CLEAVAGE SITE, SUBCELLULAR LOCATION.
  7. "Alanine-Glyoxylate aminotransferase-2 metabolizes endogenous methylarginines, regulates NO, and controls blood pressure."
    Caplin B., Wang Z., Slaviero A., Tomlinson J., Dowsett L., Delahaye M., Salama A., Wheeler D.C., Leiper J.
    Arterioscler. Thromb. Vasc. Biol. 32:2892-2900(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.

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: September 3, 2014
This is version 113 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

External Data

Dasty 3

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