Reviewed, UniProtKB/Swiss-Prot Q9BYV1 (AGT2_HUMAN)

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-alanine-pyruvate aminotransferase
    Beta-ALAAT II
    D-AIBAT

Gene names

Name:	AGXT2
Synonyms:	AGT2

Organism

Homo sapiens (Human) [Complete 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)

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 Potential.
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
PTM	Acetylation
Technical term	Complete proteome
Gene Ontology (GO)
Cellular component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity Inferred from electronic annotation. Source: EC alanine-glyoxylate transaminase activity Inferred from electronic annotation. Source: EC 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	41	Mitochondrion By similarity
	Chain	42 – 514	473	Alanine--glyoxylate aminotransferase 2, mitochondrial		PRO_0000001269
Amino acid modifications
	Modified residue	129	1	N6-acetyllysine Ref.4
	Modified residue	350	1	N6-(pyridoxal phosphate)lysine By similarity
Natural variations
	Natural variant	102	1	S → I: dbSNP rs37370.		VAR_061006
	Natural variant	102	1	S → N: dbSNP rs37370. Ref.2 Ref.3		VAR_023483
	Natural variant	102	1	S → T: dbSNP rs37370.		VAR_061007
	Natural variant	132	1	G → R: dbSNP rs16870794.		VAR_048231
	Natural variant	140	1	V → I: dbSNP rs37369. Ref.2 Ref.3		VAR_022140
	Natural variant	212	1	T → I: dbSNP rs180749. Ref.2 Ref.3		VAR_022141
	Natural variant	492	1	P → R: dbSNP rs17245714.		VAR_048232
	Natural variant	498	1	V → L: dbSNP rs16899974. Ref.3		VAR_029513

Sequences

	Sequence		Length	Mass (Da)
	Q9BYV1-1 [UniParc]. Last modified June 1, 2001. Version 1. Checksum: CA562F84FF39B5AC	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

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]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-129, MASS SPECTROMETRY.
+	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.
UniGene	Hs.34494
3D structure databases
SMR	Q9BYV1. Positions 84-508.
ModBase	Search...
Protein-protein interaction databases
STRING	Q9BYV1.
PTM databases
PhosphoSite	Q9BYV1.
Proteomic databases
PRIDE	Q9BYV1.
Genome annotation databases
Ensembl	ENST00000231420; ENSP00000231420; ENSG00000113492; Homo sapiens. [Genome view]
GeneID	64902.
KEGG	hsa:64902.
UCSC	uc003jjf.1. human.
Organism-specific databases
CTD	64902.
GeneCards	GC05M035033.
HGNC	HGNC:14412. AGXT2.
MIM	612471. gene.
PharmGKB	PA24634.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG06182.
HOGENOM	HBG725944.
HOVERGEN	Q9BYV1.
InParanoid	Q9BYV1.
OMA	QKQLGRL.
OrthoDB	EOG9MWBRD.
PhylomeDB	Q9BYV1.
Enzyme and pathway databases
BRENDA	2.6.1.40. 247. 2.6.1.44. 247.
Gene expression databases
ArrayExpress	Q9BYV1.
Bgee	Q9BYV1.
CleanEx	HS_AGXT2.
Genevestigator	Q9BYV1.
GermOnline	ENSG00000113492. Homo sapiens.
Family and domain databases
InterPro	IPR005814. Aminotrans_3. IPR015424. PyrdxlP-dep_Trfase_major_dom. IPR015421. PyrdxlP-dep_Trfase_major_sub1. [Graphical view]
Gene3D	G3DSA:3.40.640.10. PyrdxlP-dep_Trfase_major_sub1. 1 hit.
PANTHER	PTHR11986. Aminotrans_3. 1 hit.
Pfam	PF00202. Aminotran_3. 1 hit. [Graphical view]
PROSITE	PS00600. AA_TRANSFER_CLASS_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00145. Glycine. DB00160. L-Alanine. DB00114. Pyridoxal Phosphate. DB00119. Pyruvic acid.
NextBio	67053.
SOURCE	Search...

Entry information

Entry name

AGT2_HUMAN

Accession

Primary (citable) accession number: Q9BYV1
Secondary accession number(s): Q53FB4 , Q53FY7, Q53G03, Q5W7Q1

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 5, 2001
Last sequence update:	June 1, 2001
Last modified:	January 19, 2010
This is version 74 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.