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OAT Gene

protein-coding   GIFtS: 69
GCID: GC10M126075

Ornithine Aminotransferase

  See OAT-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)
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Aliases
Ornithine Aminotransferase1 2     OATASE2
Gyrate Atrophy1 2     OKT2
Ornithine Delta-Aminotransferase2 3     Ornithine Aminotransferase, Mitochondrial2
EC 2.6.1.133 8     Ornithine-Oxo-Acid Aminotransferase2
GACR2 5     Ornithine--Oxo-Acid Aminotransferase3
Ornithine Aminotransferase Precursor1     EC 2.6.18
HOGA2     

External Ids:    HGNC: 80911   Entrez Gene: 49422   Ensembl: ENSG000000651547   OMIM: 6133495   UniProtKB: P041813   

Export aliases for OAT gene to outside databases

Previous GC identifers: GC10M125055 GC10M125289 GC10M126126 GC10M125660 GC10M119770


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for OAT Gene:
This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme in the pathway that
converts arginine and ornithine into the major excitatory and inhibitory neurotransmitters glutamate and GABA.
Mutations that result in a deficiency of this enzyme cause the autosomal recessive eye disease Gyrate Atrophy.
Alternatively spliced transcript variants encoding different isoforms have been described. Related pseudogenes
have been defined on the X chromosome. (provided by RefSeq, Jan 2010)

GeneCards Summary for OAT Gene:
OAT (ornithine aminotransferase) is a protein-coding gene. Diseases associated with OAT include gyrate atrophy, and gyrate atrophy of choroid and retina with or without ornithinemia. GO annotations related to this gene include pyridoxal phosphate binding.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the OAT gene promoter:
         SRF   Spz1   SRF (504 AA)   Lmo2   GATA-1   C/EBPalpha   CBF-B   CBF-A   TGIF   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOAT promoter sequence
   Search Chromatin IP Primers for OAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat OAT


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

Entrez Gene cytogenetic band: 10q26   Ensembl cytogenetic band:  10q26.13   HGNC cytogenetic band: 10q26

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M126075:  view genomic region     (about GC identifiers)

Start:
126,085,872 bp from pter      End:
126,107,545 bp from pter
Size:
21,674 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: OAT_HUMAN, P04181 (See protein sequence)
Recommended Name: Ornithine aminotransferase, mitochondrial precursor  
Size: 439 amino acids; 48535 Da
Cofactor: Pyridoxal phosphate
Subunit: Homotetramer
6 PDB 3D structures from and Proteopedia for OAT:
1GBN (3D)        1OAT (3D)        2BYJ (3D)        2BYL (3D)        2CAN (3D)        2OAT (3D)    
Secondary accessions: D3DRF0 Q16068 Q16069 Q68CS0 Q6IAV9 Q9UD03
Alternative splicing: 2 isoforms:  P04181-1   P04181-2   

Explore the universe of human proteins at neXtProt for OAT: NX_P04181

Explore proteomics data for OAT at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys49, Lys66, Lys374, Lys392
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for OAT (P04181) (see all 17)
     DEIQTGL  VEPIQGE  VLGEYEE  IRFAPPL 


    See OAT Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000265.1  NP_001165285.1  

    ENSEMBL proteins: 
     ENSP00000357838   ENSP00000439042  
    Reactome Protein details: P04181

    OAT Human Recombinant Protein Products:

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    Novus Biologicals OAT Proteins
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    ProSpec Recombinant Protein for OAT
    Cloud-Clone Corp. Proteins for OAT

     
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    antibodies-online proteins for OAT (14 products) 

     
    antibodies-online peptides for OAT

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    OAT Assay Products:

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    antibodies-online kits for OAT (9 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR005814 Aminotrans_3
     IPR015422 PyrdxlP-dep_Trfase_major_sub2
     IPR010164 Orn_aminotrans
     IPR015424 PyrdxlP-dep_Trfase
     IPR015421 PyrdxlP-dep_Trfase_major_sub1

    Graphical View of Domain Structure for InterPro Entry P04181

    ProtoNet protein and cluster: P04181

    1 Blocks protein domain: IPB005814 Aminotransferase class-III

    UniProtKB/Swiss-Prot: OAT_HUMAN, P04181
    Similarity: Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family


    Find genes that share domains with OAT           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: OAT_HUMAN, P04181
    Catalytic activity: L-ornithine + a 2-oxo acid = L-glutamate 5-semialdehyde + an L-amino acid

         Genatlas biochemistry entry for OAT:
    ornithine aminotransferase,proline and ornithine metabolic pathway,mitochondrial matrix

         Enzyme Numbers (IUBMB): EC 2.6.1.131 2 EC 2.6.12

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004587ornithine-oxo-acid transaminase activity EXP--
    GO:0008483transaminase activity ----
    GO:0030170pyridoxal phosphate binding IEA--
         
    Find genes that share ontologies with OAT           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for OAT:
     Increased gamma-H2AX phosphory 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Oat):
     behavior/neurological  homeostasis/metabolism  mortality/aging  nervous system  pigmentation 
     renal/urinary system  vision/eye 

    Find genes that share phenotypes with OAT           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Oattm1Dva for OAT

       genOway: Develop your customized and physiologically relevant rodent model for OAT

    miRNA
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    miRTarBase miRNAs that target OAT:
    hsa-mir-196a-5p (MIRT048267), hsa-mir-1 (MIRT002736), hsa-mir-99b-5p (MIRT044197)

    Block miRNA regulation of human, mouse, rat OAT using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate OAT:
    hsa-miR-3671 hsa-miR-607
    SwitchGear 3'UTR luciferase reporter plasmidOAT 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for OAT
    Predesigned siRNA for gene silencing in human, mouse, rat OAT

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    Sino Biological Human cDNA Clone for OAT
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OAT

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OAT


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    OAT_HUMAN, P04181: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    extracellular1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS2793865
    GO:0005759mitochondrial matrix TAS--

    Find genes that share ontologies with OAT           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for OAT About    
    See pathways by source

    SuperPathContained pathways About
    1Arginine and proline metabolism
    Arginine and proline metabolism
    proline biosynthesis II (from arginine)0.00
    superpathway of citrulline metabolism0.00
    arginine degradation VI (arginase 2 pathway)0.00
    arginine degradation I (arginase pathway)0.00
    citrulline biosynthesis0.00
    Urea cycle and metabolism of amino groups0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives
    Amino acid synthesis and interconversion (transamination)0.00
    4glutamate degradation X
    arginine biosynthesis IV0.33


    Find genes that share SuperPaths with OAT           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for OAT (see all 7)
        arginine degradation I (arginase pathway)
    citrulline biosynthesis
    arginine biosynthesis IV
    Urea cycle and metabolism of amino groups
    superpathway of citrulline metabolism


    1 Reactome Pathway for OAT
        Amino acid synthesis and interconversion (transamination)


    2 Kegg Pathways  (Kegg details for OAT):
        Arginine and proline metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: OAT_HUMAN, P04181
    Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-ornithine: step 1/1

        Pathway & Disease-focused RT2 Profiler PCR Arrays including OAT: 

              Nephrotoxicity in human mouse rat
              Amino Acid Metabolism I in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for OAT

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

    Selected Interacting proteins for OAT (P041811, 2, 3 ENSP000003578384) via UniProtKB, MINT, STRING, and/or I2D (see all 441)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    HIST1H4EP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception TAS2793865
    GO:0008652cellular amino acid biosynthetic process TAS--
    GO:0034214protein hexamerization IDA--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with OAT           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for OAT

    6 HMDB Compounds for OAT    About this table
    CompoundSynonyms CAS #PubMed Ids
    FamotidineAmfamox (see all 83)76824-35-6--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Glutamic-gamma-semialdehydeL-glutamate gamma-semialdehyde (see all 6)496-92-4--
    Ornithine(+)-S-Ornithine (see all 9)70-26-8--
    Oxoglutaric acid2-Ketoglutarate (see all 9)328-50-7--
    Pyridoxal 5'-phosphateApolon B6 (see all 27)54-47-7--

    4 DrugBank Compounds for OAT    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Canaline-- 496-93-5targetinhibitor17139284 11752352 17016423
    L-Ornithine(S)-2,5-Diaminopentanoate (see all 4)70-26-8target--16179747 15616821 17197567
    Pyridoxal PhosphateCodecarboxylase (see all 9)54-47-7targetcofactor17139284 17016423 10592235
    Gabaculine-- 87980-11-8target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for OAT gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    5-fluoromethylornithine 95.4 16 9538890 (2), 8234188 (2), 7707692 (1), 9878407 (1) (see all 7)
    ornithine 93.3 238 18280134 (5), 18680626 (5), 9309222 (4), 11271933 (4) (see all 97)
    gamma-glutamyl semialdehyde 90.9 4 9514741 (1), 9878407 (1), 19513195 (1)
    l-canaline 86.5 6 9309222 (3), 11465067 (1), 11222476 (1)
    delta(1)pyrroline-5-carboxylate 80.3 6 9514741 (1), 18506409 (1)
    pyridoxal 5-phosphate 67.3 13 10617919 (1), 7887415 (1), 9514741 (1), 9309222 (1) (see all 6)
    arginine 57.9 10 18680626 (2), 18280134 (1), 16096275 (1), 19625684 (1) (see all 6)
    alpha-ketoglutarate 55.8 6 9514741 (1), 9309222 (1), 9878407 (1), 19513195 (1)
    proline 53.6 9 18506409 (2), 18330497 (1), 18280134 (1), 11222476 (1) (see all 5)
    vitamin b6 53.5 3 10617919 (1), 15750329 (1)



    Find genes that share compounds with OAT           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for OAT gene (2 alternative transcripts): 
    NM_000274.3  NM_001171814.1  

    Unigene Cluster for OAT:

    Ornithine aminotransferase
    Hs.523332  [show with all ESTs]
    Unigene Representative Sequence: AB208817
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368845(uc001lhp.3 uc001lhq.3) ENST00000471127 ENST00000467675
    ENST00000483711 ENST00000476917 ENST00000490096 ENST00000492376 ENST00000539214(uc001lhr.3)

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    hsa-miR-3671 hsa-miR-607
    SwitchGear 3'UTR luciferase reporter plasmidOAT 3' UTR sequence
    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat OAT
      QuantiTect SYBR Green Assays in human, mouse, rat OAT
      QuantiFast Probe-based Assays in human, mouse, rat OAT

    Additional mRNA sequence: 

    AB208817.1 AK296032.1 AK312561.1 AK315947.1 BC000964.2 BC016928.1 CR457045.1 CR749808.1 
    M12267.1 M14963.1 M23204.1 Y07511.1 

    22 DOTS entries:

    DT.419122  DT.92455333  DT.100838550  DT.92064991  DT.100883494  DT.97860298  DT.121242267  DT.100883502 
    DT.92455334  DT.100883508  DT.95167699  DT.121242322  DT.91977575  DT.100883497  DT.121242257  DT.121242327 
    DT.121242329  DT.95167701  DT.95167702  DT.100712175  DT.121242330  DT.95337749 

    Selected AceView cDNA sequences (see all 518):

    CD679109 CD108208 BP366028 AU118734 BM463693 BM552379 M12267 CD678683 
    BU507900 BM551449 CR749808 AI755132 BU156683 BU166966 CA945101 CD014000 
    AI754160 BM564566 BM552611 BQ962634 CA777033 BM541705 F11890 AU103428 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for OAT (see all 13)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ·
    SP1:              -     -     -     -     -     -     -                             -     -     -                       -                                       
    SP2:                                                                                -     -     -                       -                                       
    SP3:                                                                                            -                       -                                       
    SP4:                                                                          -     -     -     -                                                               
    SP5:                                                                                                                                                            

    ExUns: 13c
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for OAT

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    OAT expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 18) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Perivenous Hepatocytes Liver Lobule
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             Membranous Facial Bones
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    OAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OAT Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.523332
        Pathway & Disease-focused RT2 Profiler PCR Arrays including OAT: 
              Nephrotoxicity in human mouse rat
              Amino Acid Metabolism I in human mouse rat

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    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for OAT gene from Selected species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Oat1 , 5 ornithine aminotransferase1, 5 84.51(n)1
    90.89(a)1
      7 (76.30 cM)5
    182421  NM_016978.21  NP_058674.11 
     1325574755 
    chicken
    (Gallus gallus)
    Aves OAT1 ornithine aminotransferase 78.44(n)
    85.42(a)
      426430  NM_001006567.1  NP_001006567.1 
    lizard
    (Anolis carolinensis)
    Reptilia OAT6
    ornithine aminotransferase
    84(a)
    1 ↔ 1
    3(61628416-61651905)
    African clawed frog
    (Xenopus laevis)
    Amphibia oat-prov2 ornithine aminotransferase 77(n)    AY005479.1 
    zebrafish
    (Danio rerio)
    Actinopterygii oat1 ornithine aminotransferase 70.03(n)
    77.46(a)
      572518  XM_696242.6  XP_701334.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87823
    Oat1
    ornithine-oxo-acid aminotransferase3
    Ornithine aminotransferase precursor1
    70(a)3
    64.49(n)1
    71.1(a)1
      76B113
    401451  NM_140882.31  NP_649139.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C16A3.10a3
    C16A3.101
    ornithine aminotransferse precursor3
    C16A3.101
    66(a)
    (best of 2)3
    64.91(n)1
    66.67(a)1
      1759081  NM_171877.31  NP_741194.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CAR2(YLR438W)4
    CAR21
    L-ornithine transaminase (OTAse), catalyzes the second more4
    CAR21
    56.28(n)1
    55.28(a)1
      12(1012501-1013775)4
    8511581, 4  NP_013542.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons DELTA-OAT1 DELTA-OAT 55.83(n)
    53(a)
      834660  NM_123987.3  NP_199430.1 
    rice
    (Oryza sativa)
    Liliopsida Os.188302 Oryza sativa (japonica cultivar-group) cDNA clone0 more 72.77(n)    AK099445.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OAT gene

    Find genes that share paralogs with OAT           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for OAT (see all 16)
    PGOHUM00000260906 PGOHUM00000241284 PGOHUM00000241286 PGOHUM00000241315 PGOHUM00000260910


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for OAT (see all 676)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219650431,2,,4
    CHyperornithinemia with gyrate atrophy of choroid and retina (HOGA)4 pathogenic1126551628(-) TGGACC/TTCTGG 4 P L mis10--------
    VAR_0005674
    Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)4--see VAR_0005672 N K mis40--------
    VAR_0005794
    Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)4--see VAR_0005792 H Y mis40--------
    VAR_0005734
    Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)4--see VAR_0005732 P L mis40--------
    VAR_0005664
    Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)4--see VAR_0005662 Y H mis40--------
    VAR_0005854
    Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)4--see VAR_0005852 P L mis40--------
    VAR_0156484
    Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)4--see VAR_0156482 Q E mis40--------
    VAR_0005814
    Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)4--see VAR_0005812 G D mis40--------
    VAR_0005824
    Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)4--see VAR_0005822 G A mis40--------
    VAR_0005784
    Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)4--see VAR_0005782 R K mis40--------

    HapMap Linkage Disequilibrium report for OAT (126085872 - 126107545 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for OAT:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv825603CNV Gain20364138
    nsv825602CNV Gain20364138
    nsv832012CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): OAT
    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 613349   
    OMIM disorders: 258870  
    UniProtKB/Swiss-Prot: OAT_HUMAN, P04181
  • Hyperornithinemia with gyrate atrophy of choroid and retina (HOGA) [MIM:258870]: A disorder clinically
    characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle
    fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to
    blindness at the latest during the sixth decade of life. Patients generally have normal intelligence. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 6 diseases for OAT:    
    About MalaCards
    gyrate atrophy    gyrate atrophy of choroid and retina with or without ornithinemia    orotic aciduria    eye disease
    norrie disease    cystinuria

    1 disease from the University of Copenhagen DISEASES database for OAT:
    Gyrate atrophy

    Find genes that share disorders with OAT           About GenesLikeMe

    Selected Novoseek inferred disease relationships for OAT gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gyrate atrophy 98.5 67 1635292 (5), 2220818 (2), 9538890 (2), 1301936 (2) (see all 39)
    ornithine aminotransferase deficiency 96.7 4 16151897 (1), 16601905 (1), 1682785 (1), 1789102 (1)
    hyperammonemia 69.7 7 16151897 (2), 9286430 (1), 18806117 (1), 7707692 (1) (see all 5)
    blindness 46.3 7 2220818 (1), 9514741 (1), 9309222 (1), 9414260 (1) (see all 6)
    eye diseases 41.3 2 2220818 (1), 1487247 (1)
    metabolic disorder 39.1 2 15750329 (1)
    retinal degeneration 38.3 1 16601905 (1)
    hepatomegaly 20.4 1 15563600 (1)
    genetic disorder 17.4 2 16906410 (1), 9514741 (1)
    cell damage 14.8 1 16597690 (1)

    Genatlas disease: OAT
    hyperornithinemia,with gyrate atrophy of choroid and retina

    Genetic Association Database (GAD): OAT
    Human Genome Epidemiology (HuGE) Navigator: OAT (13 documents)

    Export disorders for OAT 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)
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    PubMed articles for OAT gene, integrated from 10 sources (see all 157):
    (articles sorted by number of sources associating them with OAT)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency. (PubMed id 1682785)1, 2, 3, 9 Ramesh V.... Shih V.E. (Mol. Biol. Med. 1991)
    2. A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. (PubMed id 7668253)1, 2, 9 Kobayashi T.... Matsuzawa T. (Am. J. Hum. Genet. 1995)
    3. Human ornithine aminotransferase complexed with L-canaline and gabaculine: structural basis for substrate recognition. (PubMed id 9309222)1, 2, 9 Shah S.A.... Brunger A.T. (Structure 1997)
    4. Crystal structure of human recombinant ornithine aminotransferase. (PubMed id 9514741)1, 2, 9 Shen B.W.... Schirmer T. (J. Mol. Biol. 1998)
    5. Analysis of the human ornithine aminotransferase gene family. (PubMed id 2373169)1, 2, 9 Zintz C.B. and Inana G. (Exp. Eye Res. 1990)
    6. Crystal structure of human ornithine aminotransferase complexed with the highly specific and potent inhibitor 5-fluoromethylornithine. (PubMed id 9878407)1, 2, 9 Storici P.... Jansonius J.N. (J. Mol. Biol. 1999)
    7. Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. (PubMed id 7887415)1, 2, 9 Michaud J.... Mitchell G.A. (Am. J. Hum. Genet. 1995)
    8. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    9. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4942 HGNC: 8091 AceView: OAT Ensembl:ENSG00000065154 euGenes: HUgn4942
    ECgene: OAT Kegg: 4942 H-InvDB: OAT

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for OAT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=OAT[genesymbol]

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

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



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