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Q9BYV1

- AGT2_HUMAN

UniProt

Q9BYV1 - AGT2_HUMAN

Protein

Alanine--glyoxylate aminotransferase 2, mitochondrial

Gene

AGXT2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 114 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    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
    5. transaminase activity Source: InterPro

    GO - Biological processi

    1. cellular nitrogen compound metabolic process Source: Reactome
    2. glycine biosynthetic process, by transamination of glyoxylate Source: BHF-UCL
    3. glyoxylate catabolic process Source: BHF-UCL
    4. glyoxylate metabolic process Source: Reactome
    5. L-alanine catabolic process, by transamination Source: BHF-UCL
    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

    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

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24634.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 4141Mitochondrion1 PublicationAdd
    BLAST
    Chaini42 – 514473Alanine--glyoxylate aminotransferase 2, mitochondrialPRO_0000001269Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei71 – 711N6-acetyllysine; alternateBy similarity
    Modified residuei71 – 711N6-succinyllysine; alternateBy similarity
    Modified residuei84 – 841N6-acetyllysineBy similarity
    Modified residuei262 – 2621N6-acetyllysine; alternateBy similarity
    Modified residuei262 – 2621N6-succinyllysine; alternateBy similarity
    Modified residuei304 – 3041N6-succinyllysineBy similarity
    Modified residuei350 – 3501N6-(pyridoxal phosphate)lysineBy similarity
    Modified residuei417 – 4171N6-acetyllysine; alternateBy similarity
    Modified residuei417 – 4171N6-succinyllysine; alternateBy similarity
    Modified residuei420 – 4201N6-acetyllysine; alternateBy similarity
    Modified residuei420 – 4201N6-succinyllysine; alternateBy 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.
    ModBaseiSearch...
    MobiDBiSearch...

    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.3 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.3 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. 1 PublicationVSP_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. [Q9BYV1-1]
    ENST00000510428; ENSP00000422799; ENSG00000113492. [Q9BYV1-2]
    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...
    MobiDBi Search...

    Protein-protein interaction databases

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

    Chemistry

    DrugBanki DB00145. Glycine.
    DB00160. L-Alanine.
    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 . [Q9BYV1-1 ]
    ENST00000510428 ; ENSP00000422799 ; ENSG00000113492 . [Q9BYV1-2 ]
    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

    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: October 1, 2014
    This is version 114 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