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Aliases & Descriptions for OAT
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| DKFZp781A11155 2 | | EC 2.6.1.13 3 | | HOGA 1, 2 | | OTTHUMP00000020690 2 |
| | | Descriptions |
|---|
| Ornithine--oxo-acid aminotransferase 3 | | ornithine aminotransferase 2 | | ornithine aminotransferase (gyrate atrophy) 2 |
|
| | Search outside databases for aliases for OAT genePrevious GC identifers: GC10M125055 GC10M125289 GC10M126126 GC10M125660 |
Summaries for OAT(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for OAT: This gene encodes the mitochondrial enzyme ornithine aminotransferase, which is a key enzyme is 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. [provided by RefSeq]
|
Genomic Location for OAT
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the OAT gene 
Entrez Gene cytogenetic band: 10q26 Ensembl cytogenetic band: 10q26.13 HGNC cytogenetic band: 10q26OAT Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10M126075:
(about GC identifiers)
Start:
|
126,075,862 bp from pter |
End:
|
126,097,450 bp from pter |
Size:
|
21,589 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000010.9 NT_035040.4
| Proteins for OAT
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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
PDB structures from and Proteopedia :1GBN (3D)
 1OAT (3D)
 2BYJ (3D)
 2BYL (3D)
 2CAN (3D)
 2OAT (3D)
 
Secondary accessions: Q16068 Q16069 Q6IAV9 Q9UD03REFSEQ proteins: NP_000265.1
ENSEMBL proteins: ENSP00000357838 ENSP00000385802
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for OAT: Assays for OAT: | Protein
Domains/ Families for OAT(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P04181Similarity: Belongs to the class-III pyridoxal-phosphate-dependent aminotransferase family | Gene Function for OAT
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000274
Applied Biosystems Silencer® siRNAs for OAT
Sigma-Aldrich siRNA and siRNA Panels for OAT  Sigma-Aldrich shRNA for OAT  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000274                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000274                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000274 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000274
UniProtKB/Swiss-Prot: OAT_HUMAN, P04181Catalytic activity: L-ornithine + a 2-oxo acid = L-glutamate 5-semialdehyde + an L-amino acidEnzyme Number (IUBMB): EC 2.6.1.13 Genatlas biochemistry entry for OAT:ornithine aminotransferase,proline and ornithine metabolic pathway,mitochondrial matrix7 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Oat):
4 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions for OAT
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| 2 Sigma-Aldrich "Your Favorite Gene" Pathways for OAT (Your Favorite Gene powered by Ingenuity) 
UniProtKB/Swiss-Prot: OAT_HUMAN, P04181Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-ornithine: step 1/1 5/29 Interacting proteins for OAT (ENSP000003578383 P041811, 2) via UniProtKB, MINT, and/or STRING (see all 29
)About this table
1 Gene Ontology (GO) biological process term (links to tree view): About this table
|
Drugs & Compounds for OAT(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for OAT 10/11 Novoseek chemical compound relationships for OAT gene (see all 11
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| 5-fluoromethylornithine |
95.54 |
16 |
9538890 (2), 8234188 (2), 7707692 (1), 9878407 (1) (see all 7) |
| ornithine |
93.11 |
227 |
18280134 (5), 18680626 (5), 9309222 (4), 11271933 (4) (see all 91) |
| gamma-glutamyl semialdehyde |
88.99 |
3 |
9514741 (1), 9878407 (1) |
| l-canaline |
86.80 |
6 |
9309222 (3), 11465067 (1), 11222476 (1) |
| delta(1)pyrroline-5-carboxylate |
74.24 |
6 |
9514741 (1), 18506409 (1) |
| carbamoyl phosphate |
54.17 |
3 |
19000307 (1), 7978367 (1) |
| proline |
46.74 |
8 |
18506409 (2), 18330497 (1), 11222476 (1), 18280134 (1) |
| putrescine |
45.83 |
3 |
18280134 (1), 7609280 (1), 11222476 (1) |
| urea |
42.36 |
3 |
18806117 (1), 8272027 (1), 7485563 (1) |
| ecori |
26.66 |
1 |
1618792 (1) |
About this table
|
Transcripts for OAT(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000274
Sigma-Aldrich siRNA and siRNA Panels for OAT  Sigma-Aldrich shRNA for OAT  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000274 REFSEQ mRNAs for OAT gene: NM_000274.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000274               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000274                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000274                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000274  Additional cDNA sequence: AB208817.1 AK296032.1 AK312561.1 AK315947.1 BC000964.2 BC016928.1 CR457045.1 CR604740.1 CR605069.1 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.92455334 DT.100883502 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 24/518 AceView cDNA sequences (see all 518
):AI755132 BP346318 BQ718413 BQ955175 AL549701 F09537 BE794286 BU507900 BP350822 BQ771983 CA945101 BQ962634 CD679109 BU169718 BF514733 CA412690 R37863 CN481668 CD678683 CF131713 AL560219 BM552611 NM_000274 CR604740
highest scoring ESTs for OAT:M12267 AA331687 AA336312 AL521003 AL559079 AL598933 AL697697 AU118734 AU133128 AU138196 Unigene Cluster for OAT: Ornithine aminotransferase (gyrate atrophy) Hs.523332 [show with all ESTs]Unigene Representative Sequence: AB208817
GeneLoc Exon Structure
5/13 Alternative Splicing Database (ASD) splice patterns (SP) for OAT (see all 13
)
| 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: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for OAT
2 Ensembl transcripts including schematic representations: ENST00000368845
ENST00000405216
|
Expression for OAT
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| OAT expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for OAT
1 / 2 / 3 3 probe-sets matching OAT gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: TGTACTTCCT
SOURCE GeneReport for Unigene cluster: Hs.523332
Expression variation in blood from EXPOLDB for OAT |
Orthologs for OAT
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for OAT gene from 5/26 species (see all 26
)
About this table Species with no ortholog for OAT
ENSEMBL Gene Tree for OAT | Paralogs for OAT(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for OAT gene
- ABAT2
|
SNPs/Variants for OAT(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for OAT (up to first 250kb)
|
Disorders & Mutations for OAT
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 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 disorder10/12 Novoseek disease relationships for OAT gene (see all 12
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| gyrate atrophy |
98.54 |
65 |
1635292 (5), 2220818 (2), 9538890 (2), 1301936 (2) (see all 39) |
| ornithine aminotransferase deficiency |
96.85 |
4 |
16151897 (1), 16601905 (1), 1682785 (1), 1789102 (1) |
| hyperammonemia |
70.79 |
7 |
16151897 (2), 9286430 (1), 18806117 (1), 7707692 (1) (see all 5) |
| blindness |
44.58 |
7 |
2220818 (1), 9514741 (1), 9309222 (1), 9414260 (1) (see all 6) |
| eye diseases |
43.05 |
2 |
2220818 (1), 1487247 (1) |
| retinal degeneration |
40.19 |
1 |
16601905 (1) |
| metabolic disorder |
36.30 |
2 |
15750329 (1) |
| hepatomegaly |
21.95 |
1 |
15563600 (1) |
| genetic disorder |
19.41 |
2 |
16906410 (1), 9514741 (1) |
| cell damage |
16.61 |
1 |
16597690 (1) |
About this table
Genatlas disease: OAT hyperornithinemia,with gyrate atrophy of choroid and retina Human Gene Mutation Database: OAT Genetic Association Database: OAT
|
Medical News for OAT(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for OAT (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/119 PubMed articles for OAT gene (see all 119
):- Molecular pathology of gyrate atrophy of the choroid and retina due to ornithine aminotransferase deficiency. (PubMed id 1682785)1, 2, 3, 4 Ramesh V.... Shih V.E. (1991)
- A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor. (PubMed id 7668253)1, 3, 4 Kobayashi T.... Matsuzawa T. (1995)
- Human ornithine aminotransferase complexed with L-canaline and gabaculine: structural basis for substrate recognition. (PubMed id 9309222)1, 3, 4 Shah S.A.... Brunger A.T. (1997)
- Crystal structure of human recombinant ornithine aminotransferase. (PubMed id 9514741)1, 3, 4 Shen B.W.... Schirmer T. (1998)
- Analysis of the human ornithine aminotransferase gene family. (PubMed id 2373169)1, 3, 4 Zintz C.B. and Inana G. (1990)
- Crystal structure of human ornithine aminotransferase complexed with the highly specific and potent inhibitor 5-fluoromethylornithine. (PubMed id 9878407)1, 3, 4 Storici P.... Jansonius J.N. (1999)
- Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V. (PubMed id 7887415)1, 3, 4 Michaud J.... Mitchell G.A. (1995)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta- aminotransferase gene. (PubMed id 1612597)3, 4 Michaud J....Mitchell G. (1992)
- Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. (PubMed id 1737786)3, 4 Brody L.C.... Valle D. (1992)
|
Search for OAT
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing OAT
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing OAT
(According to HUGE)
About This Section
| -- |
Specialized Databases showing OAT(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=OAT |
|
| | | About This Section
| --
| Services for OAT(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for OAT:

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Incremental update: 13 Oct 2009
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