Alanine--glyoxylate aminotransferase 2, mitochondrial precursor

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Q9BYV1 (AGT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 100. History...

Clusters with 100%, 90%, 50% identity |

Documents (5) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
Alanine--glyoxylate aminotransferase 2, mitochondrial
Short name=AGT 2
EC=2.6.1.44

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 names

Name:	AGXT2
Synonyms:	AGT2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	514 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.4 Ref.5
Catalytic activity	L-alanine + glyoxylate = pyruvate + glycine. (R)-3-amino-2-methylpropanoate + pyruvate = 2-methyl-3-oxopropanoate + L-alanine.
Cofactor	Pyridoxal phosphate.
Subunit structure	Homotetramer By similarity.
Subcellular location	Mitochondrion Ref.4.
Sequence similarities	Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.

Ontologies

Keywords
Cellular component	Mitochondrion
Coding sequence diversity	Polymorphism
Domain	Transit peptide
Ligand	Pyridoxal phosphate
Molecular function	Aminotransferase Transferase
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	L-alanine catabolic process, by transamination Inferred from direct assay Ref.4. Source: BHF-UCL glycine biosynthetic process, by transamination of glyoxylate Inferred from direct assay Ref.4. Source: BHF-UCL glyoxylate catabolic process Inferred from direct assay Ref.4. Source: BHF-UCL positive regulation of nitric oxide biosynthetic process Inferred from direct assay Ref.4. Source: BHF-UCL pyrimidine nucleobase metabolic process Traceable author statement. Source: Reactome pyrimidine nucleoside catabolic process Traceable author statement. Source: Reactome
Cellular_component	mitochondrial matrix Traceable author statement. Source: Reactome
Molecular_function	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity Inferred from electronic annotation. Source: EC alanine-glyoxylate transaminase activity Inferred from direct assay Ref.4. Source: BHF-UCL beta-alanine-pyruvate transaminase activity Inferred from electronic annotation. Source: Compara pyridoxal phosphate binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Transit peptide

1 – 41

Mitochondrion Ref.4

Chain

42 – 514

473

Alanine--glyoxylate aminotransferase 2, mitochondrial

PRO_0000001269

Amino acid modifications

Modified residue

350

N6-(pyridoxal phosphate)lysine By similarity

Natural variations

Natural variant

102

S → I.
Corresponds to variant rs37370 [ dbSNP | Ensembl ].

VAR_061006

Natural variant

102

S → N. Ref.2 Ref.3
Corresponds to variant rs37370 [ dbSNP | Ensembl ].

VAR_023483

Natural variant

102

S → T.
Corresponds to variant rs37370 [ dbSNP | Ensembl ].

VAR_061007

Natural variant

132

G → R.
Corresponds to variant rs16870794 [ dbSNP | Ensembl ].

VAR_048231

Natural variant

140

V → I. Ref.2 Ref.3
Corresponds to variant rs37369 [ dbSNP | Ensembl ].

VAR_022140

Natural variant

212

T → I. Ref.2 Ref.3
Corresponds to variant rs180749 [ dbSNP | Ensembl ].

VAR_022141

Natural variant

492

P → R.
Corresponds to variant rs17245714 [ dbSNP | Ensembl ].

VAR_048232

Natural variant

498

V → L. Ref.3
Corresponds to variant rs16899974 [ dbSNP | Ensembl ].

VAR_029513

Sequences

Sequence

Length

Mass (Da)

Tools

Q9BYV1 [UniParc].

Last modified June 1, 2001. Version 1.
Checksum: CA562F84FF39B5AC
Show »

FASTA

514

57,156

        10         20         30         40         50         60 
MTLIWRHLLR PLCLVTSAPR ILEMHPFLSL GTSRTSVTKL SLHTKPRMPP CDFMPERYQS 

        70         80         90        100        110        120 
LGYNRVLEIH KEHLSPVVTA YFQKPLLLHQ GHMEWLFDAE GSRYLDFFSG IVTVSVGHCH 

       130        140        150        160        170        180 
PKVNAVAQKQ LGRLWHTSTV FFHPPMHEYA EKLAALLPEP LKVIFLVNSG SEANELAMLM 

       190        200        210        220        230        240 
ARAHSNNIDI ISFRGAYHGC SPYTLGLTNV GTYKMELPGG TGCQPTMCPD VFRGPWGGSH 

       250        260        270        280        290        300 
CRDSPVQTIR KCSCAPDCCQ AKDQYIEQFK DTLSTSVAKS IAGFFAEPIQ GVNGVVQYPK 

       310        320        330        340        350        360 
GFLKEAFELV RARGGVCIAD EVQTGFGRLG SHFWGFQTHD VLPDIVTMAK GIGNGFPMAA 

       370        380        390        400        410        420 
VITTPEIAKS LAKCLQHFNT FGGNPMACAI GSAVLEVIKE ENLQENSQEV GTYMLLKFAK 

       430        440        450        460        470        480 
LRDEFEIVGD VRGKGLMIGI EMVQDKISCR PLPREEVNQI HEDCKHMGLL VGRGSIFSQT 

       490        500        510 
FRIAPSMCIT KPEVDFAVEV FRSALTQHME RRAK

« Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[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].
[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], 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], VARIANTS ASN-102; ILE-140; ILE-212 AND LEU-498. Tissue: Kidney.
[4]	"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, SUBCELLULAR LOCATION.
[5]	"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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00011075.
RefSeq	NP_114106.1. NM_031900.3.
UniGene	Hs.34494.
3D structure databases
ProteinModelPortal	Q9BYV1.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9BYV1. 2 interactions.
STRING	9606.ENSP00000231420.
PTM databases
PhosphoSite	Q9BYV1.
Polymorphism databases
DMDM	17432913.
Proteomic databases
PaxDb	Q9BYV1.
PRIDE	Q9BYV1.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000231420; ENSP00000231420; ENSG00000113492.
GeneID	64902.
KEGG	hsa:64902.
UCSC	uc003jjf.3. human.
Organism-specific databases
CTD	64902.
GeneCards	GC05M035033.
HGNC	HGNC:14412. AGXT2.
HPA	HPA037382.
MIM	612471. gene.
neXtProt	NX_Q9BYV1.
PharmGKB	PA24634.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0160.
HOGENOM	HOG000020206.
HOVERGEN	HBG004196.
InParanoid	Q9BYV1.
KO	K00827.
OMA	GGTGCQP.
OrthoDB	EOG4Q84X7.
PhylomeDB	Q9BYV1.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	Q9BYV1.
Bgee	Q9BYV1.
CleanEx	HS_AGXT2.
Genevestigator	Q9BYV1.
GermOnline	ENSG00000113492. Homo sapiens.
Family and domain databases
Gene3D	3.40.640.10. 1 hit. 3.90.1150.10. 1 hit.
InterPro	IPR005814. Aminotrans_3. IPR015424. PyrdxlP-dep_Trfase. IPR015421. PyrdxlP-dep_Trfase_major_sub1. IPR015422. PyrdxlP-dep_Trfase_major_sub2. [Graphical view]
PANTHER	PTHR11986. PTHR11986. 1 hit.
Pfam	PF00202. Aminotran_3. 1 hit. [Graphical view]
SUPFAM	SSF53383. PyrdxlP-dep_Trfase_major. 1 hit.
PROSITE	PS00600. AA_TRANSFER_CLASS_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	AGXT2. human.
DrugBank	DB00145. Glycine. DB00160. L-Alanine. DB00114. Pyridoxal Phosphate. DB00119. Pyruvic acid.
GenomeRNAi	64902.
NextBio	67053.
SOURCE	Search...

Entry information

Entry name

AGT2_HUMAN

Accession

Primary (citable) accession number: Q9BYV1
Secondary accession number(s): Q53FB4

Q5W7Q1

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 5, 2001
Last sequence update:	June 1, 2001
Last modified:	May 1, 2013
This is version 100 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.

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List of human entries with polymorphisms or disease mutations

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

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Amino acid modifications

Natural variations

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents