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

AGXT Gene

protein-coding   GIFtS: 69
GCID: GC02P241807

alanine-glyoxylate aminotransferase


(Previous symbol: SPAT)
 Explore 19 diseases affiliated with
AGXT via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AGXT    

Aliases
for AGXT gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Alanine-Glyoxylate Aminotransferase1 2     TLH62
SPAT1 2 3 5     Hepatic Peroxisomal Alanine:Glyoxylate Aminotransferase2
AGT1 2 3     L-Alanine: Glyoxylate Aminotransferase 12
AGT11 2 3     Serine--Pyruvate Aminotransferase2
SPT1 2 3     Serine-Pyruvate Aminotransferase2
AGXT11 2     Serine:Pyruvate Aminotransferase2
PH11 2     EC 2.6.1.443
Alanine--Glyoxylate Aminotransferase2 3     EC 2.6.1.513

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


Summaries
for AGXT gene

(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:
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)

summary for AGXT:
The angiotensin family of peptides is important in the regulation of blood volume, vascular resistance and
electrolyte balance. Angiotensin II, the main peptide of the renin-angiotensin system, produces a variety of
physiological effects. It is produced in a cascade whereby the precursor peptide angiotensinogen is cleaved
to produce renin and angiotensin I. Angiotensin-converting enzyme then acts on angiotensin I to yield the
octapeptide angiotensin II, and further processing generates angiotensins III and IV. These peptides act on
three angiotensin receptor subtypes, AT1, AT2 and AT4, the properties of which are summarized below. The
actions of angiotensin II are primarily mediated by AT1, whereas AT2 preferentially binds angiotensin III
and AT4 is selective for angiotensin IV.

Gene Wiki entry for AGXT


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  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 plasmid: AGXT 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

Proteins
for AGXT gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
3 PDB 3D structures from and Proteopedia for AGXT:
1H0C (3D)        1J04 (3D)        3R9A (3D)    
Secondary accessions: Q53QU6

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P21549

    • AGXT Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000021.1  
    ENSEMBL proteins: 
     ENSP00000302620  
    Reactome Protein details: P21549
    Human Recombinant Protein Products: 
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    Uscn Proteins for AGXT

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005759mitochondrial matrix IEA--
    GO:0005777peroxisome IDA7813517
    GO:0005782peroxisomal matrix TAS--


    AGXT for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for AGXT gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    AGXT for domains           About GeneDecksing

    5/6 InterPro domains/families (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 family: IPB000192 Aminotransferase

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


    Function
    for AGXT gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AGXT
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate AGXT
    SwitchGear 3'UTR luciferase reporter plasmid: AGXT 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    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 TAS--
    GO:0008483transaminase activity IDA18492492


    AGXT for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Agxttm1Ull for AGXT
         2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Agxt):
     homeostasis/metabolism  renal/urinary system 

    AGXT for phenotypes           About GeneDecksing


    Pathways & Interactions
    for AGXT gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    2glycine biosynthesis III
    		glycine biosynthesis III1.00
    		Glyoxylate metabolism0.40
    3Metabolism of amino acids and derivatives
    		Metabolism of amino acids and derivatives1.00
    4Peroxisome
    		Peroxisome1.00
    5Glycine, serine and threonine metabolism
    		Glycine, serine and threonine metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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


    4         Kegg Pathways  (Kegg details for AGXT):
        Alanine, aspartate and glutamate metabolism
    Glycine, serine and threonine metabolism
    Metabolic pathways
    Peroxisome


    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): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006625protein targeting to peroxisome IMP1703535
    GO:0009436glyoxylate catabolic process IDA--
    GO:0019265glycine biosynthetic process, by transamination of glyoxylate IDA--
    GO:0019448L-cysteine catabolic process IDA18492492
    GO:0034641cellular nitrogen compound metabolic process TAS--


    AGXT for ontologies           About GeneDecksing



    Drugs & Compounds
    for AGXT gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    Compounds for AGXT available from Tocris Bioscience    About this table
    CompoundAction CAS #
    EMD 66684 Potent, selective non-peptide AT1 antagonist [187683-79-0]
    Flupirtine maleateK+ channel activator[75507-68-5]
    ZD 7155 hydrochlorideSelective non-peptide AT1 antagonist[146709-78-6]
    PD 123319 ditrifluoroacetate Potent, selective non-peptide AT2 antagonist [130663-39-7]
    Y-27632 dihydrochlorideSelective p160ROCK inhibitor[146986-50-7]

    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 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 

    Transcripts
    for AGXT gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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)

    miRNA
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AB292648.1 AF348451.1 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 H73643 BX646397 BX367010 CR603072 CR598889 CR620771 X56092 
    D13368 BX427678 CR614071 AL546520 CB116959 AI276468 AF348451 NM_000030 
    T60965 AI248240 AL531934 BX426793 AI468633 AI076583 AL531935 BX346041 

    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

    Expression
    for AGXT gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCCTCCCGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    AGXT expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Embryoid bodies (Two-step protocol fo...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AGXT

    Orthologs
    for AGXT gene

    (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 10/32 species (see all 32)    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
    		 --
    		 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
    for AGXT gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for AGXT gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/475 NCBI SNPs in AGXT are shown (see all 475)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1150145581,2
    		C,F,non-pathogenic233568318(+) GGTGAC/ACCCCC 2 /N /T mis12Minor allele frequency- A:0.01NA EU 4789
    rs1801771881,2
    		C,non-pathogenic233568319(+) GTGACA/CCCCCC 2 T syn10--------
    rs348852521,2
    		C,F,non-pathogenic233568357(+) CCCCAA/GCCAGC 2 N S mis16Minor allele frequency- G:0.03NA WA EA EU 5865
    rs570175371,2
    		C,,non-pathogenic233568497(+) CACCCC/ATGTTC 1 -- int11Minor allele frequency- A:0.50WA 2
    rs581205461,2
    		C,non-pathogenic233568501(+) CATGTT/ACCCAC 1 -- int14Minor allele frequency- A:0.11WA NA EA 360
    rs1801771761,2
    		C,F,non-pathogenic233568576(+) CTATAC/TCACCC 1 -- int11Minor allele frequency- T:0.01EU 1323
    rs1170431481,2
    		C,F,non-pathogenic233570239(+) AGGGCC/TGGGAG 1 -- int11Minor allele frequency- T:0.08EA 120
    rs1173578551,2
    		C,F,non-pathogenic233570255(+) GGGAGT/GGGGCA 1 -- int11Minor allele frequency- G:0.08EA 120
    rs1476015351,2
    		Cnon-pathogenic233570916(+) GTGCTG/ACAGCC 2 /L syn11Minor allele frequency- A:0.00NA 4034
    rs101963151,2
    		C,F,non-pathogenic233571042(+) CTGCCC/TCTGGT 1 -- int16Minor allele frequency- T:0.26NA WA EA 364

    HapMap Linkage Disequilibrium report for AGXT (241807896 - 241819919 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AGXT
         2 CNVs: 30112 30111
    Human Gene Mutation Database (HGMD): AGXT

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AGXT
    DNA2.0 Custom Variant and Variant Library Synthesis for AGXT

    Disorders / Diseases
    for AGXT gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    AGXT for disorders           About GeneDecksing

    OMIM gene information: 604285   
    OMIM disorders: 259900  
    UniProtKB/Swiss-Prot: SPYA_HUMAN, P21549
  • Defects in AGXT are the cause of hyperoxaluria primary type 1 (HP1) [MIM:259900]; also known as primary
    • hyperoxaluria type I (PH1) and oxalosis I. HP1 is a rare autosomal recessive inborn error of glyoxylate metabolism
    characterized by increased excretion of oxalate and glycolate, and the progressive accumulation of insoluble calcium
    oxalate in the kidney and urinary tract

    19 diseases for AGXT:    About MalaCards
    primary hyperoxaluria    rhizomelic chondrodysplasia punctata    chondrodysplasia punctata    hepatitis
    urolithiasis    chondrodysplasia    nephrocalcinosis    autosomal recessive disease
    monogenic disease    metabolic disorders    nephrolithiasis    peroxisomal disease
    intrahepatic cholangiocarcinoma    convulsions    cholangiocarcinoma    nephropathy
    hypothyroidism    neuropathy    colorectal cancer

    6 diseases from the University of Copenhagen DISEASES database for AGXT:
    Primary hyperoxaluria     Calcinosis     Kidney failure     Nephrolithiasis
    Autosomal recessive disease     Peroxisomal disease

    10/14 Novoseek 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
    Hyperoxaluria, Primary, Type 1

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

    Export disorders for AGXT gene to outside databases

    Publications
    for AGXT gene

    (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 181):
    (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. 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)
    8. 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)
    9. Identification of 5 novel mutations in the AGXT gene. (PubMed id 10862087)1, 2, 9 Basmaison O.... Bozon D. (2000)
    10. Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations. (PubMed id 10960483)1, 2, 9 Lumb M.J. and Danpure C.J. (2000)

    External Searches for AGXT gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    Genome Databases showing AGXT gene

    (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

    Other Databases showing AGXT gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AGXT gene

    (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

    Intellectual Property
    for AGXT gene

    (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:
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