ENSG00000065154


Homo sapiens

Features
Gene ID: ENSG00000065154
  
Biological name :OAT
  
Synonyms : OAT / ornithine aminotransferase / P04181
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q26.13
Gene start: 124397303
Gene end: 124418976
  
Corresponding Affymetrix probe sets: 201599_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000357838
Ensembl peptide - ENSP00000439042
NCBI entrez gene - 4942     See in Manteia.
OMIM - 613349
RefSeq - NM_001322966
RefSeq - NM_001322967
RefSeq - NM_001322968
RefSeq - NM_001322969
RefSeq - NM_001322970
RefSeq - NM_001322971
RefSeq - NM_001322974
RefSeq - XM_017016279
RefSeq - NM_000274
RefSeq - NM_001171814
RefSeq - NM_001322965
RefSeq Peptide - NP_000265
RefSeq Peptide - NP_001165285
RefSeq Peptide - NP_001309894
RefSeq Peptide - NP_001309895
RefSeq Peptide - NP_001309896
RefSeq Peptide - NP_001309897
RefSeq Peptide - NP_001309898
RefSeq Peptide - NP_001309899
RefSeq Peptide - NP_001309900
RefSeq Peptide - NP_001309903
swissprot - P04181
swissprot - A0A140VJQ4
Ensembl - ENSG00000065154
  
Related genetic diseases (OMIM): 258870 - Gyrate atrophy of choroid and retina with or without ornithinemia, 258870
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 oatENSDARG00000078425Danio rerio
 OATENSGALG00000031158Gallus gallus
 OatENSMUSG00000030934Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR005814  Aminotransferase class-III
 IPR010164  Ornithine aminotransferase
 IPR015421  Pyridoxal phosphate-dependent transferase, major domain
 IPR015422  Pyridoxal phosphate-dependent transferase domain 1
 IPR015424  Pyridoxal phosphate-dependent transferase
 IPR034758  Ornithine aminotransferase, mitochondrial


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007601 visual perception TAS
 biological_processGO:0008652 cellular amino acid biosynthetic process TAS
 biological_processGO:0034214 protein hexamerization IDA
 biological_processGO:0055129 L-proline biosynthetic process IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion TAS
 cellular_componentGO:0005759 mitochondrial matrix NAS
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004587 ornithine-oxo-acid transaminase activity EXP
 molecular_functionGO:0008483 transaminase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0030170 pyridoxal phosphate binding IBA
 molecular_functionGO:0042802 identical protein binding IBA


Pathways (from Reactome)
Pathway description
Amino acid synthesis and interconversion (transamination)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000533 Chorioretinal atrophy 
Show

 HP:0000545 Myopia 
Show

 HP:0000618 Blindness 
Show

 HP:0000662 Night blindness 
Show

 HP:0001939 Metabolism abnormality 
Show

 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
Show

 HP:0003701 Proximal muscle weakness "A lack of strength of the proximal muscles." [HPO:curators]
Show

 HP:0007787 Posterior subcapsular cataracts 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000065154 OAT / P04181 / ornithine aminotransferase  / complex






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr