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

OAT Gene

protein-coding   GIFtS: 67
GCID: GC10M126075

ornithine aminotransferase
 Explore 32 diseases affiliated with
OAT via
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 Human Malady Compendium 
Biological research products
for OAT    

Aliases
for OAT gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ornithine Aminotransferase1 2     OKT2
HOGA1 2     Gyrate Atrophy2
Ornithine Delta-Aminotransferase2 3     Ornithine Aminotransferase, Mitochondrial2
EC 2.6.1.133 8     Ornithine-Oxo-Acid Aminotransferase2
GACR2 5     Ornithine--Oxo-Acid Aminotransferase3
OATASE2     EC 2.6.18

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


Summaries
for OAT 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 OAT:
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)




Genomic Views
for OAT 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_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences 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 plasmid: OAT promoter sequence
   Search SABiosciences Chromatin IP Primers for OAT

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for OAT 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: OAT_HUMAN, P04181 (See protein sequence)
Recommended Name: Ornithine aminotransferase, mitochondrial precursor  
Size: 439 amino acids; 48535 Da
Cofactor: Pyridoxal phosphate
Subunit: Homotetramer
Subcellular location: Mitochondrion matrix
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04181

    • 4/17 DME Specific Peptides for OAT (P04181) (see all 17)
     DEIQTGL  VEPIQGE  VLGEYEE  IRFAPPL 

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

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

    ENSEMBL proteins: 
     ENSP00000357838   ENSP00000439042  
    Reactome Protein details: P04181
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for OAT
    Uscn Proteins for OAT

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion TAS2793865
    GO:0005759mitochondrial matrix TAS--


    OAT for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for OAT

    Protein Domains /
    Families
    for OAT gene

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

    5 InterPro domains/families:
     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 family: IPB005814 Aminotransferase class-III

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


    Function
    for OAT 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: 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

    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate OAT:
    hsa-miR-3671 hsa-miR-607
    SwitchGear 3'UTR luciferase reporter plasmid: OAT 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): OAT (NM_000274)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat OAT 

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    Search LifeMap BioReagents cell lines for OAT

    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004587ornithine-oxo-acid transaminase activity EXP--
    GO:0030170pyridoxal phosphate binding IEA--


    OAT for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Oattm1Dva for OAT
         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 

    OAT for phenotypes           About GeneDecksing


    Pathways & Interactions
    for OAT 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
    1proline biosynthesis II (from arginine)
    		proline biosynthesis II (from arginine)1.00
    		arginine degradation I (arginase pathway)0.14
    		arginine degradation VI (arginase 2 pathway)0.50
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3superpathway of citrulline metabolism
    		superpathway of citrulline metabolism1.00
    		citrulline biosynthesis0.53
    4Arginine and proline metabolism
    		Arginine and proline metabolism1.00
    		Urea cycle and metabolism of amino groups0.36
    5Amino acid synthesis and interconversion (transamination)
    		Amino acid synthesis and interconversion (transamination)1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/7 BioSystems Pathways for OAT (see all 7) 
        citrulline biosynthesis
    arginine degradation I (arginase pathway)
    superpathway of citrulline metabolism
    Urea cycle and metabolism of amino groups
    arginine biosynthesis IV

    3        Reactome Pathways for OAT
        Metabolism
    Amino acid synthesis and interconversion (transamination)
    Metabolism of amino acids and derivatives


    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


    OAT for pathways           About GeneDecksing

    Interactions:

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

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

    5/419 Interacting proteins for OAT (P041811, 2, 3 ENSP000003578384) via UniProtKB, MINT, STRING, and/or I2D (see all 419)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception TAS2793865
    GO:0008652cellular amino acid biosynthetic process TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0055129L-proline biosynthetic process IEA--


    OAT for ontologies           About GeneDecksing



    Drugs & Compounds
    for OAT 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

    OAT for compounds           About GeneDecksing

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

    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

    10/20 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about OAT 

    Transcripts
    for OAT 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 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)


    miRNA
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    hsa-miR-3671 hsa-miR-607
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    Inhib. RNA
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    Additional cDNA 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 

    21 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.100712175  DT.95167702  DT.95337749 

    24/518 AceView cDNA sequences (see all 518):

    BM978815 CD108208 BP372371 BU507900 F11890 CD014000 BG548642 BQ959360 
    R37863 CN481668 BQ672258 CD678683 BP366028 BX422722 BM550258 M23204 
    AL560219 CA412690 F06125 BE794286 CF131713 R37290 BM551449 BQ718413 

    GeneLoc Exon Structure

    5/13 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

    Expression
    for OAT 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

    OAT expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTACTTCCT

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

    OAT expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverLiver LobulePerivenous HepatocytesLiver
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.523332
        SABiosciences Expression via Pathway-Focused PCR Arrays including OAT: 
              Nephrotoxicity in human mouse rat
              Amino Acid Metabolism I in human mouse rat

    Primer
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    Orthologs
    for OAT 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 last universal common ancestor (LUCA).

    Orthologs for OAT gene from 10/42 species (see all 42)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 84(a)
    		 1 ↔ 1
    		 3(61629083-61643888)
    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_696242.5  XP_701334.3 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG87823
    Oat1    		 ornithine-oxo-acid aminotransferase3
    Ornithine aminotransferase precursor1    		 70(a)3
    64.24(n)1
    71.6(a)1    		   76B113
    401451  NM_140882.21  NP_649139.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea C16A3.10a3
    C16A3.101    		 ornithine aminotransferse precursor3
    Protein C16A3.101    		 66(a)
    (best of 2)3
    64.91(n)1
    66.67(a)1    		   1759081  NM_171877.21  NP_741194.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes CAR2(YLR438W)4
    CAR21    		 L-ornithine transaminase (OTAse), catalyzes the second more4
    Car2p1    		 56.37(n)1
    55.28(a)1    		   12(1012501-1013775)4
    8511581, 4  NP_013542.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons DELTA-OAT1 ornithine-delta-aminotransferase 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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria patA6
    		 putrescine:2-oxoglutaric acid aminotransferase, PL...
    		 29(a)
    		 1 ↔ 1
    		 Chromosome(3217516-3218895)


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

    Paralogs
    for OAT gene

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

    OAT for paralogs           About GeneDecksing


    5/16 Pseudogenes.org Pseudogenes for OAT (see all 16)
    PGOHUM00000260906 PGOHUM00000241284 PGOHUM00000241286 PGOHUM00000241315 PGOHUM00000260910


    Genomic Variants
    for OAT 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

    10/506 NCBI SNPs in OAT are shown (see all 506)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs18004561,2
    		C,Fnon-pathogenic119771289(-) ATCTTC/G/TTCTTT 6 F L mis13NA 4382
    rs114611,2
    		C,F,non-pathogenic126089434(-) TTAAAC/TGCTAT 4 N syn115Minor allele frequency- T:0.33EA NA CSA WA EU 6369
    rs1219650431,2
    		C,pathogenic119771395(-) TGGACC/TTCTGG 4 P L mis10--------
    rs1219650531,2
    		Cpathogenic119774279(-) ATTGGG/ACATTA 4 /D /G mis11Minor allele frequency- A:0.00NA 4502
    rs1219650561,2
    		Cpathogenic119778796(-) CCCTAT/AAATGA 4 /* /Y stg11Minor allele frequency- A:0.00EU 1323
    rs1119724181,2
    		C,--119770188(+) AGATCG/ATGCCA 2 -- ds5001 int11Minor allele frequency- A:0.50NA 2
    rs24592161,2
    		C,F,A,H,--119771095(+) GTTACG/ATTACA 2 -- ut31 ese328Minor allele frequency- A:0.11NA NS EA WA CSA 2911
    rs115535481,2
    		H--119771384(-) CCAAGC/TCAACC 4 P S mis14Minor allele frequency- T:0.00NS EA 406
    rs563114521,2
    		C,--119771548(+) ACTTGC/TTCAAC 2 -- int12Minor allele frequency- T:0.04WA 120
    rs1125706431,2
    		--119772365(+) GCACTG/CTCTCA 2 -- int11Minor allele frequency- C:0.50CSA 2

    HapMap Linkage Disequilibrium report for OAT (126085872 - 126107545 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for OAT: --
    Human Gene Mutation Database (HGMD): OAT

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    Disorders / Diseases
    for OAT 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
    OAT for disorders           About GeneDecksing

    OMIM gene information: 613349   
    OMIM disorders: 258870  
    UniProtKB/Swiss-Prot: OAT_HUMAN, P04181
  • Defects in OAT are the cause of hyperornithinemia with gyrate atrophy of choroid and retina (HOGA)
    • [MIM:258870]. HOGA is a slowly progressive blinding autosomal recessive disorder

    20/32 diseases for OAT (see all 32):    About MalaCards
    gyrate atrophy    gyrate atrophy of choroid and retina with or without ornithinemia    eye disease    langerhans-cell histiocytosis
    ornithinemia    congenital muscular dystrophy    muscular dystrophy    metabolic disorders
    norrie disease    retinal degeneration    reye syndrome    cystinuria
    synovial sarcoma    chorioretinitis    histiocytosis    choroiditis
    blindness    retinitis    osteoporosis    sarcoma

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

    10/12 Novoseek 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

    Publications
    for OAT 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 OAT gene, integrated from 9 sources (see all 153):
    (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. (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. (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. (1997)
    4. Crystal structure of human recombinant ornithine aminotransferase. (PubMed id 9514741)1, 2, 9 Shen B.W.... Schirmer T. (1998)
    5. Analysis of the human ornithine aminotransferase gene family. (PubMed id 2373169)1, 2, 9 Zintz C.B. and Inana G. (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. (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. (1995)
    8. 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. (2004)
    9. Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta- aminotransferase gene. (PubMed id 1612597)1, 2 Michaud J....Mitchell G. (1992)
    10. Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. (PubMed id 1737786)1, 2 Brody L.C.... Valle D. (1992)

    External Searches for OAT gene

    (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)

    Genome Databases showing OAT gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4942 HGNC: 8091 AceView: OAT Ensembl:ENSG00000065154 euGenes: HUgn4942
    ECgene: OAT Kegg: 4942 H-InvDB: OAT

    Other Databases showing OAT gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing OAT 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 OAT Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OAT

    Intellectual Property
    for OAT gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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