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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AGXT Gene

protein-coding   GIFtS: 68
GCID: GC02P241807

Alanine-Glyoxylate Aminotransferase


(Previous symbol: SPAT)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Alanine-Glyoxylate Aminotransferase1 2     Primary Hyperoxaluria Type 11
SPAT1 2 3 5     AGXT12
L-Alanine: Glyoxylate Aminotransferase 11 2     PH12
Serine:Pyruvate Aminotransferase1 2     TLH62
Alanine--Glyoxylate Aminotransferase2 3     Hepatic Peroxisomal Alanine:Glyoxylate Aminotransferase2
AGT2 3     Serine--Pyruvate Aminotransferase2
AGT12 3     Serine-Pyruvate Aminotransferase2
SPT2 3     EC 2.6.1.443
glycolicaciduria1     EC 2.6.1.513
Oxalosis I1     

External Ids:    HGNC: 3411   Entrez Gene: 1892   Ensembl: ENSG000001724827   OMIM: 6042855   UniProtKB: P215493   

Export aliases for AGXT gene to outside databases

Previous GC identifers: GC02P239620 GC02M240478 GC02P241827 GC02P242128 GC02P241528 GC02P241456 GC02P233568


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for AGXT Gene:
This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it
is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting,
have been associated with type I primary hyperoxaluria. (provided by RefSeq, Jul 2008)

GeneCards Summary for AGXT Gene: 
AGXT (alanine-glyoxylate aminotransferase) is a protein-coding gene. Diseases associated with AGXT include primary hyperoxaluria, and primary hyperoxaluria type 1, and among its related super-pathways are Glyoxylate metabolism and Metabolic pathways. GO annotations related to this gene include pyridoxal phosphate binding and protein homodimerization activity.

Gene Wiki entry for AGXT Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005416.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AGXT gene promoter:
         COUP-TF1   GR   GR-beta   COUP   HNF-4alpha2   HNF-4alpha1   COUP-TF   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAGXT promoter sequence
   Search SABiosciences Chromatin IP Primers for AGXT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AGXT


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.3

AGXT Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AGXT gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P241807:  view genomic region     (about GC identifiers)

Start:
241,807,896 bp from pter      End:
241,819,919 bp from pter
Size:
12,024 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPYA_HUMAN, P21549 (See protein sequence)
Recommended Name: Serine--pyruvate aminotransferase  
Size: 392 amino acids; 43010 Da
Cofactor: Pyridoxal phosphate
Subunit: Homodimer
Subcellular location: Peroxisome. Mitochondrion matrix. Note=Except in some HP1 patients where AGT is found in the
mitochondrial matrix
4 PDB 3D structures from and Proteopedia for AGXT:
1H0C (3D)        1J04 (3D)        3R9A (3D)        4I8A (3D)    
Secondary accessions: Q53QU6

Explore the universe of human proteins at neXtProt for AGXT: NX_P21549

Explore proteomics data for AGXT at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P21549

  • AGXT Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AGXT Protein Expression
    REFSEQ proteins: NP_000021.1  
    ENSEMBL proteins: 
     ENSP00000302620  
    Reactome Protein details: P21549
    Human Recombinant Protein Products for AGXT: 
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    Cloud-Clone Corp. Proteins for AGXT 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005759mitochondrial matrix IEA--
    GO:0005777peroxisome IDA1703535
    GO:0005782peroxisomal matrix TAS--

    AGXT for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR024169 SP_NH2Trfase/AEP_transaminase
     IPR020578 Aminotrans_V_PyrdxlP_BS
     IPR015424 PyrdxlP-dep_Trfase
     IPR000192 Aminotrans_V/Cys_dSase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1

    Graphical View of Domain Structure for InterPro Entry P21549

    ProtoNet protein and cluster: P21549

    1 Blocks protein domain: IPB000192 Aminotransferase

    UniProtKB/Swiss-Prot: SPYA_HUMAN, P21549
    Similarity: Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family


    AGXT for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPYA_HUMAN, P21549
    Catalytic activity: L-serine + pyruvate = 3-hydroxypyruvate + L-alanine
    Catalytic activity: L-alanine + glyoxylate = pyruvate + glycine

         Genatlas biochemistry entry for AGXT:
    alanine

         Enzyme Numbers (IUBMB): EC 2.6.1.441 EC 2.6.1.511

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004760serine-pyruvate transaminase activity IEA--
    GO:0005102receptor binding IPI--
    GO:0005515protein binding IPI15911627
    GO:0008453alanine-glyoxylate transaminase activity TAS2363689
    GO:0008483transaminase activity IDA18492492
         
    AGXT for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Agxt):
     homeostasis/metabolism  renal/urinary system 

    AGXT for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Agxttm1Ull for AGXT

       inGenious Targeting Laboratory - Custom generated mouse model solutions for AGXT 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AGXT

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for AGXT About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1glycine biosynthesis III
    Glyoxylate metabolism0.40
    glycine biosynthesis III0.40
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Carbon metabolism
    Carbon metabolism0.37
    4Peroxisome
    Peroxisome
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for AGXT
        Alanine and aspartate metabolism
    glycine biosynthesis III

    3        Reactome Pathways for AGXT
        Glyoxylate metabolism
    Metabolism
    Metabolism of amino acids and derivatives


    5/6         Kegg Pathways  (Kegg details for AGXT) (see all 6):
        Alanine, aspartate and glutamate metabolism
    Glycine, serine and threonine metabolism
    Glyoxylate and dicarboxylate metabolism
    Metabolic pathways
    Carbon metabolism


    AGXT for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AGXT

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/33 Interacting proteins for AGXT (P215492, 3 ENSP000003026204) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNCAIPQ9Y6H52, 3MINT-64297 I2D: score=4 
    PEX5P505423, ENSP000004074014I2D: score=1 STRING: ENSP00000407401
    YWHAEP622583I2D: score=1 
    AGXT2ENSP000002314204STRING: ENSP00000231420
    ALAS2ENSP000003323694STRING: ENSP00000332369
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006625protein targeting to peroxisome IMP1703535
    GO:0008152metabolic process ----
    GO:0009436glyoxylate catabolic process IDA--
    GO:0019265glycine biosynthetic process, by transamination of glyoxylate IDA--
    GO:0019448L-cysteine catabolic process IDA18492492

    AGXT for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    AGXT for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AGXT (SPYA)

    8 HMDB Compounds for AGXT    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    Glycine2-Aminoacetate (see all 15)56-40-6--
    Glyoxylic acidFormylformate (see all 16)298-12-4--
    Hydroxypyruvic acid3-Hydroxy-2-oxopropanoate (see all 8)1113-60-6--
    L-Alanine(2S)-2-Aminopropanoate (see all 35)56-41-7--
    L-Serine(-)-Serine (see all 26)56-45-1--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--
    Pyruvic acid2-Oxopropanoate (see all 14)127-17-3--

    7 DrugBank Compounds for AGXT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Alanine(2S)-2-Aminopropanoic acid (see all 15)56-41-7target--17139284 17110443 17016423 10453743 11562405
    L-Serine(-)-Serine (see all 11)56-45-1target--17654249 17322298 17557831 17559874
    Glycine2-Aminoacetic acid (see all 4)56-40-6target--16899523 17616291 16990263
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor16971151 17139284 17016423
    (Aminooxy)Acetic Acid-- 2921-14-4target--17139284 17016423
    N'-Pyridoxyl-Lysine-5'-Monophosphate-- --target--17139284 17016423
    4-(2-AMINOPHENYL)-4-OXOBUTANOIC ACID-- --target--10592235

    10/16 Novoseek inferred chemical compound relationships for AGXT gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glyoxylate 90.5 42 16309382 (3), 15464418 (2), 19887726 (2), 16922352 (2) (see all 26)
    oxalate 86.9 26 17110443 (2), 16922352 (2), 17975148 (2), 8692789 (1) (see all 19)
    calcium oxalate 78.4 4 15961951 (1), 15499210 (1), 14987413 (1), 15356974 (1)
    polyglycolic acid 73 10 16309382 (3), 11562405 (1), 16922352 (1), 10603104 (1) (see all 7)
    vitamin b6 69.9 2 11562405 (1), 12768081 (1)
    aminooxyacetic acid 68 2 12899834 (1), 8747487 (1)
    pyridoxal 5-phosphate 67.6 20 15802217 (3), 19346561 (2), 18289107 (2), 12899834 (1) (see all 8)
    o6-benzylguanine 48.2 8 10955780 (5), 9730821 (1)
    alanine 46.4 16 18492492 (3), 7559790 (1), 8747487 (1), 19545238 (1) (see all 8)
    tripeptide 33.5 5 7559790 (1), 11694530 (1), 15911627 (1)

    Search CenterWatch for drugs/clinical trials and news about AGXT / SPYA

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AGXT gene: 
    NM_000030.2  

    Unigene Cluster for AGXT:

    Alanine-glyoxylate aminotransferase
    Hs.144567  [show with all ESTs]
    Unigene Representative Sequence: NM_000030
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000307503(uc002waa.4) ENST00000472436(uc010zoi.1) ENST00000476698
    ENST00000470255(uc002wab.4)
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    Additional mRNA sequence: 

    AB292648.1 AK292754.1 AK298400.1 AK298420.1 AK315331.1 AK316495.1 BC132819.1 D13368.1 
    X53414.1 X56092.1 

    4 DOTS entries:

    DT.447308  DT.91741869  DT.91983090  DT.100786006 

    24/61 AceView cDNA sequences (see all 61):

    BX452398 D13368 H73643 BX646397 AL546520 BX367010 CR614071 BX427678 
    CR620771 CB116959 X56092 CR603072 CR598889 BX346041 BX448211 AI076583 
    X53414 NM_000030 N51032 BX445300 AF191687 BX463060 AI468633 T61292 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for AGXT    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                                                                                    
    SP2:                          -                 -                                       
    SP3:                                                                                    
    SP4:                          -                                                         
    SP5:                                            -     -                                 


    ECgene alternative splicing isoforms for AGXT

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AGXT expression in normal human tissues (normalized intensities)      AGXT embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCCTCCCGG
    AGXT Expression
    About this image


    AGXT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Human Hepatocyte (HH)   
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Cartilage (Muscoskeletal System)
             fetal cartilage   
     
     Kidney (Urinary System)

    See AGXT Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AGXT

    SOURCE GeneReport for Unigene cluster: Hs.144567

    UniProtKB/Swiss-Prot: SPYA_HUMAN, P21549
    Tissue specificity: Liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including AGXT: 
              Amino Acid Metabolism II in human mouse rat
              Drug Metabolism: Phase II Enzymes in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGXT

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AGXT gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Agxt1 , 5 alanine-glyoxylate aminotransferase1, 5 77.81(n)1
    76.79(a)1
      1 (47.00 cM)5
    116111  NM_016702.21  NP_057911.21 
     931352765 
    chicken
    (Gallus gallus)
    Aves AGXT1 alanine-glyoxylate aminotransferase 69.05(n)
    63.78(a)
      770344  XM_003641735.1  XP_003641783.1 
    lizard
    (Anolis carolinensis)
    Reptilia AGXT6
    Uncharacterized protein
    61(a)
    1 ↔ 1
    3(35140909-35151273)
    African clawed frog
    (Xenopus laevis)
    Amphibia agt2 putative alanineglyoxylate aminotransferase 73.76(n)    BC054140.1 
    zebrafish
    (Danio rerio)
    Actinopterygii agxt2 Danio rerio cDNA clone MGC65930 IMAGE6789890, complete more 67.57(n)    BC056520.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Spat1 , 3 serine-pyruvate aminotransferase3
    Serine pyruvate aminotransferase1
    48(a)3
    55.47(n)1
    45.77(a)1
      1 6B13
    315871  NM_078507.21  NP_511062.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T14D7.11 , 3 serine-pyruvate aminotransferase3
    Protein T14D7.11
    44(a)3
    48.4(n)1
    44.12(a)1
      II(8846236-8848677)3
    1744141  NM_063484.31  NP_495885.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes AGX1(YFL030W)4
    AGX11
    Alanine:glyoxylate aminotransferase (AGT), catalyzes more4
    Agx1p1
    38.57(n)1
    27.62(a)1
      6(76831-77988)4
    8505141, 4  NP_116623.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AGT1 serine--glyoxylate aminotransferase 42.78(n)
    32.93(a)
      815822  NM_179620.2  NP_849951.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g05027001 hypothetical protein 47.99(n)
    32.23(a)
      4345962  NM_001068705.1  NP_001062170.1 


    ENSEMBL Gene Tree for AGXT (if available)
    TreeFam Gene Tree for AGXT (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AGXT gene
    1 SIMAP similar gene for AGXT using alignment to 2 protein entries:     SPYA_HUMAN (see all proteins):
    TLH6

    AGXT for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: SPYA_HUMAN, P21549
    Polymorphism: Polymorphism at position 11 acts synergistically with different mutations in AGXT producing specific
    enzymic phenotypes in HP1 patients. The combined presence of Leu-11 and Met-340 polymorphisms defines the minor
    AGXT allele, whereas their absence defines the major allele. The minor allele has frequencies of 20% in normal
    European and North American populations, and 50% in HP1 patients


    10/634 SNPs in AGXT are shown (see all 634)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0109694
    Hyperoxaluria primary 1 (HP1)4--see VAR_0109692 G V mis40--------
    VAR_0605554
    Hyperoxaluria primary 1 (HP1)4--see VAR_0605552 C Y mis40--------
    VAR_0605544
    Hyperoxaluria primary 1 (HP1)4--see VAR_0605542 G R mis40--------
    VAR_0605604
    Hyperoxaluria primary 1 (HP1)4--see VAR_0605602 R L mis40--------
    VAR_0605534
    Hyperoxaluria primary 1 (HP1)4--see VAR_0605532 S L mis40--------
    VAR_0605494
    Hyperoxaluria primary 1 (HP1)4--see VAR_0605492 W R mis40--------
    VAR_0605524
    Hyperoxaluria primary 1 (HP1)4--see VAR_0605522 L V mis40--------
    VAR_0088804
    Hyperoxaluria primary 1 (HP1)4--see VAR_0088802 R H mis40--------
    VAR_0605594
    Hyperoxaluria primary 1 (HP1)4--see VAR_0605592 S L mis40--------
    VAR_0605674
    Hyperoxaluria primary 1 (HP1)4--see VAR_0605672 R C mis40--------

    HapMap Linkage Disequilibrium report for AGXT (241807896 - 241819919 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for AGXT (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv771e199CNV Deletion23128226
    esv1196389CNV Insertion17803354
    esv1710219CNV Insertion17803354
    nsv876210CNV Loss21882294
    dgv4485n71CNV Loss21882294
    nsv876208CNV Loss21882294
    nsv470531CNV Loss18288195
    nsv876116CNV Loss21882294
    dgv4488n71CNV Loss21882294
    nsv876209CNV Loss21882294


    Human Gene Mutation Database (HGMD): AGXT
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing AGXT
    DNA2.0 Custom Variant and Variant Library Synthesis for AGXT

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604285   
    OMIM disorders: 259900  
    UniProtKB/Swiss-Prot: SPYA_HUMAN, P21549
  • Hyperoxaluria primary 1 (HP1) [MIM:259900]: An inborn error of glyoxylate metabolism characterized by
    increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate.
    Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 17 diseases for AGXT:    About MalaCards
    primary hyperoxaluria    primary hyperoxaluria type 1    nephrocalcinosis    peroxisomal disease
    peroxisome disorders    nephrolithiasis    autosomal recessive disease    calcinosis
    rhizomelic chondrodysplasia punctata    metabolic disorders    chondrodysplasia    hypothyroidism
    hepatitis    intrahepatic cholangiocarcinoma    cholangiocarcinoma    neuropathy
    colorectal cancer

    5 diseases from the University of Copenhagen DISEASES database for AGXT:
    Primary hyperoxaluria     Nephrocalcinosis     Kidney failure     Nephrolithiasis
    Autosomal recessive disease

    AGXT for disorders           About GeneDecksing

    10/14 Novoseek inferred disease relationships for AGXT gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperoxaluria primary 98.1 102 1961759 (2), 11562405 (2), 15365967 (2), 19479957 (2) (see all 79)
    hyperoxaluria, primary, type i 95.3 19 16922352 (2), 8692789 (1), 10394939 (1), 17460142 (1) (see all 14)
    hyperoxaluria 90.9 17 8692789 (1), 16284878 (1), 18951670 (1), 19245173 (1) (see all 15)
    nephrocalcinosis 76.3 2 16284878 (1), 10933316 (1)
    urolithiasis 67.9 1 16284878 (1)
    nephrolithiasis 65.2 4 15365967 (2), 11699734 (1)
    renal stone 63.3 5 12899834 (1), 12686111 (1), 18782763 (1), 12737622 (1) (see all 5)
    peroxisomal disorders 56.8 1 17027096 (1)
    metabolic disorder 50.4 5 8692789 (1), 15802217 (1), 2129359 (1), 1763934 (1) (see all 5)
    renal failure 50.3 4 8692789 (1), 17110443 (1), 16095518 (1)

    Genatlas disease: AGXT
    oxalosis (hyperoxaluria type I)

    GeneTests: AGXT
    GeneReviews: AGXT
    Genetic Association Database (GAD): AGXT
    Human Genome Epidemiology (HuGE) Navigator: AGXT (12 documents)

    Export disorders for AGXT gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AGXT gene, integrated from 9 sources (see all 187):
    (articles sorted by number of sources associating them with AGXT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. AGXT gene mutations and their influence on clinical heterogeneity of type 1 primary hyperoxaluria. (PubMed id 11562405)1, 4, 7, 9 Amoroso A....Marangella M. (2001)
    2. Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. (PubMed id 2039493)1, 2, 3, 9 Nishiyama K....Ichiyama A. (1991)
    3. Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. (PubMed id 2045108)1, 2, 3, 9 Purdue P.E....Danpure C.J. (1991)
    4. Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. (PubMed id 10453743)1, 2, 7, 9 Pirulli D.... Florian F. (1999)
    5. Implications of genotype and enzyme phenotype in pyridoxine response of patients with type I primary hyperoxaluria. (PubMed id 15849466)1, 2, 4 Monico C.G.... Milliner D.S. (2005)
    6. Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase. (PubMed id 8507692)1, 2, 9 Danpure C.J. (1993)
    7. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene-based diagnosis. (PubMed id 17460142)1, 4, 9 Monico C.G....Milliner D.S. (2007)
    8. Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation. (PubMed id 8101040)1, 2, 9 Danpure C.J....Davidson N.O. (1993)
    9. Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1. (PubMed id 12899834)1, 2, 9 Zhang X....Danpure C.J. (2003)
    10. Identification of 5 novel mutations in the AGXT gene. (PubMed id 10862087)1, 2, 9 Basmaison O.... Bozon D. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 189 HGNC: 341 AceView: AGXT Ensembl:ENSG00000172482 euGenes: HUgn189
    ECgene: AGXT Kegg: 189 H-InvDB: AGXT

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AGXT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AGXT

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AGXT gene:
    Search GeneIP for patents involving AGXT

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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