Human Gene OAT (ENST00000368845.6_6) from GENCODE V47lift37
  Description: ornithine aminotransferase, transcript variant 9 (from RefSeq NM_001322971.2)
Gencode Transcript: ENST00000368845.6_6
Gencode Gene: ENSG00000065154.12_8
Transcript (Including UTRs)
   Position: hg19 chr10:126,085,872-126,107,492 Size: 21,621 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr10:126,086,511-126,100,740 Size: 14,230 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:126,085,872-126,107,492)mRNA (may differ from genome)Protein (439 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: OAT_HUMAN
DESCRIPTION: RecName: Full=Ornithine aminotransferase, mitochondrial; EC=2.6.1.13; AltName: Full=Ornithine delta-aminotransferase; AltName: Full=Ornithine--oxo-acid aminotransferase; Contains: RecName: Full=Ornithine aminotransferase, hepatic form; Contains: RecName: Full=Ornithine aminotransferase, renal form; Flags: Precursor;
CATALYTIC ACTIVITY: L-ornithine + a 2-oxo acid = L-glutamate 5- semialdehyde + an L-amino acid.
COFACTOR: Pyridoxal phosphate.
PATHWAY: Amino-acid biosynthesis; L-proline biosynthesis; L- glutamate 5-semialdehyde from L-ornithine: step 1/1.
SUBUNIT: Homotetramer.
INTERACTION: P56537:EIF6; NbExp=1; IntAct=EBI-721662, EBI-372243;
SUBCELLULAR LOCATION: Mitochondrion matrix.
DISEASE: 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.
SIMILARITY: Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OAT";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: OAT
Diseases sorted by gene-association score: gyrate atrophy of choroid and retina with or without ornithinemia* (1693), choroid disease (13), parapsoriasis (9), norrie disease (8), cerebral creatine deficiency syndrome 3 (8), cerebral creatine deficiency syndrome 2 (7), rheumatic myocarditis (7), cerebral creatine deficiency syndrome (7), reye syndrome (7), hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (6), eye disease (6), cystinuria (5), letterer-siwe disease (4), 3-methylglutaconic aciduria, type v (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 131.59 RPKM in Small Intestine - Terminal Ileum
Total median expression: 1644.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -22.1080-0.276 Picture PostScript Text
3' UTR -136.30639-0.213 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005814 - Aminotrans_3
IPR010164 - Orn_aminotrans
IPR015424 - PyrdxlP-dep_Trfase_major_dom
IPR015421 - PyrdxlP-dep_Trfase_major_sub1
IPR015422 - PyrdxlP-dep_Trfase_major_sub2

Pfam Domains:
PF00202 - Aminotransferase class-III

SCOP Domains:
53383 - PLP-dependent transferases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1GBN - X-ray MuPIT 1OAT - X-ray MuPIT 2BYJ - X-ray MuPIT 2BYL - X-ray MuPIT 2CAN - X-ray MuPIT 2OAT - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P04181
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsembl WormBaseSGD
    Protein SequenceProtein Sequence
    AlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004587 ornithine-oxo-acid transaminase activity
GO:0008483 transaminase activity
GO:0016740 transferase activity
GO:0030170 pyridoxal phosphate binding
GO:0042802 identical protein binding

Biological Process:
GO:0007601 visual perception
GO:0008652 cellular amino acid biosynthetic process
GO:0034214 protein hexamerization
GO:0055129 L-proline biosynthetic process

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix


-  Descriptions from all associated GenBank mRNAs
  M12267 - Human ornithine aminotransferase mRNA, complete cds.
BC000964 - Homo sapiens ornithine aminotransferase (gyrate atrophy), mRNA (cDNA clone MGC:5182 IMAGE:3449883), complete cds.
BC016928 - Homo sapiens ornithine aminotransferase (gyrate atrophy), mRNA (cDNA clone MGC:21248 IMAGE:3913352), complete cds.
CR749808 - Homo sapiens mRNA; cDNA DKFZp781A11155 (from clone DKFZp781A11155).
M23204 - Human ornithine-oxo-acid aminotransferase mRNA, exons 3-11, complete cds.
AB208817 - Homo sapiens mRNA for ornithine aminotransferase precursor variant protein.
M14963 - Human ornithine aminotransferase mRNA, complete cds.
AK296032 - Homo sapiens cDNA FLJ57880 complete cds, highly similar to Ornithine aminotransferase, mitochondrial precursor (EC 2.6.1.13).
Y07511 - Human mRNA for kidney ornithine aminotransferase (EC 2.6.1.13).
AK315947 - Homo sapiens cDNA, FLJ78846 complete cds, highly similar to Ornithine aminotransferase, mitochondrial precursor (EC 2.6.1.13).
HM005443 - Homo sapiens clone HTL-T-130 testicular tissue protein Li 130 mRNA, complete cds.
AK312561 - Homo sapiens cDNA, FLJ92935, Homo sapiens ornithine aminotransferase (gyrate atrophy) (OAT),nuclear gene encoding mitochondrial protein, mRNA.
JF432151 - Synthetic construct Homo sapiens clone IMAGE:100073297 ornithine aminotransferase (gyrate atrophy) (OAT) gene, encodes complete protein.
KJ897271 - Synthetic construct Homo sapiens clone ccsbBroadEn_06665 OAT gene, encodes complete protein.
KJ905844 - Synthetic construct Homo sapiens clone ccsbBroadEn_15514 OAT gene, encodes complete protein.
CR457045 - Homo sapiens full open reading frame cDNA clone RZPDo834H0811D for gene OAT, ornithine aminotransferase (gyrate atrophy); complete cds, incl. stopcodon.
JD359332 - Sequence 340356 from Patent EP1572962.
JD553783 - Sequence 534807 from Patent EP1572962.
JD292812 - Sequence 273836 from Patent EP1572962.
JD049418 - Sequence 30442 from Patent EP1572962.
JD503335 - Sequence 484359 from Patent EP1572962.
S66418 - ornithine aminotransferase [human, mRNA Partial Mutant, 27 nt].
CU674478 - Synthetic construct Homo sapiens gateway clone IMAGE:100019401 5' read OAT mRNA.
JD314550 - Sequence 295574 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
ARGININE-SYN4-PWY - ornithine de novo biosynthesis

BioCarta from NCI Cancer Genome Anatomy Project
h_argininecPathway - Catabolic Pathways for Arginine , Histidine, Glutamate, Glutamine, and Proline

Reactome (by CSHL, EBI, and GO)

Protein P04181 (Reactome details) participates in the following event(s):

R-HSA-70654 ornithine + alpha-ketoglutarate <=> glutamate + L-glutamate gamma-semialdehyde [OAT]
R-HSA-70666 glutamate + L-glutamate gamma-semialdehyde <=> ornithine + alpha-ketoglutarate [OAT]
R-HSA-70614 Amino acid synthesis and interconversion (transamination)
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: D3DRF0, ENST00000368845.1, ENST00000368845.2, ENST00000368845.3, ENST00000368845.4, ENST00000368845.5, NM_001322971, OAT_HUMAN, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03, uc318hcp.1, uc318hcp.2
UCSC ID: ENST00000368845.6_6
RefSeq Accession: NM_000274.4
Protein: P04181 (aka OAT_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.