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    OAT ornithine aminotransferase [ Homo sapiens (human) ]

    Gene ID: 4942, updated on 5-May-2024

    Summary

    Official Symbol
    OATprovided by HGNC
    Official Full Name
    ornithine aminotransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:8091
    See related
    Ensembl:ENSG00000065154 MIM:613349; AllianceGenome:HGNC:8091
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OKT; GACR; HOGA; OATASE
    Summary
    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]
    Expression
    Broad expression in small intestine (RPKM 198.3), duodenum (RPKM 185.5) and 20 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See OAT in Genome Data Viewer
    Location:
    10q26.13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (124397303..124418923, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (125275480..125297100, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (126085872..126107492, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4165 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:125927283-125928482 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr10:125929584-125930147 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:125936098-125936598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:125958373-125958874 Neighboring gene uncharacterized LOC107984184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:125996111-125997098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126009557-126010056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126067885-126068602 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2908 Neighboring gene NANOG hESC enhancer GRCh37_chr10:126092029-126092572 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:126107534-126108193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:126108167-126108681 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:126135289-126136156 Neighboring gene NK1 homeobox 2 Neighboring gene ornithine aminotransferase pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify ornithine aminotransferase (OAT), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    env HIV-1 gp120 upregulates the expression of ornithine aminotransferase in umbilical cord blood mononuclear cells and T-cell lines PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify ornithine aminotransferase (OAT), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify ornithine aminotransferase (OAT), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify ornithine aminotransferase (OAT), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp781A11155

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ornithine aminotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ornithine aminotransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables pyridoxal phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in L-proline biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in arginine catabolic process to glutamate IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in arginine catabolic process to proline via ornithine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    ornithine aminotransferase, mitochondrial
    Names
    gyrate atrophy
    ornithine delta-aminotransferase
    ornithine-oxo-acid aminotransferase
    testicular tissue protein Li 130
    NP_000265.1
    NP_001165285.1
    NP_001309894.1
    NP_001309895.1
    NP_001309896.1
    NP_001309897.1
    NP_001309898.1
    NP_001309899.1
    NP_001309900.1
    NP_001309903.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008861.1 RefSeqGene

      Range
      4975..26648
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_685

    mRNA and Protein(s)

    1. NM_000274.4NP_000265.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_000265.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC016928, DB459793, R37569
      Consensus CDS
      CCDS7639.1
      UniProtKB/Swiss-Prot
      D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
      UniProtKB/TrEMBL
      A0A140VJQ4
      Related
      ENSP00000357838.5, ENST00000368845.6
      Conserved Domains (1) summary
      TIGR01885
      Location:40437
      Orn_aminotrans; ornithine aminotransferase
    2. NM_001171814.2NP_001165285.1  ornithine aminotransferase, mitochondrial isoform 2

      See identical proteins and their annotated locations for NP_001165285.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      BC016928, DB459793, R37569
      Consensus CDS
      CCDS53586.1
      UniProtKB/TrEMBL
      Q59HE2
      Related
      ENSP00000439042.1, ENST00000539214.5
      Conserved Domains (1) summary
      cl18945
      Location:1299
      AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...
    3. NM_001322965.2NP_001309894.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variants 1, 4, 5, 6, 7, and 8, encodes isoform 1.
      Source sequence(s)
      AK312561, AL445237, CD104356
      Consensus CDS
      CCDS7639.1
      UniProtKB/Swiss-Prot
      D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
      UniProtKB/TrEMBL
      A0A140VJQ4
      Conserved Domains (1) summary
      TIGR01885
      Location:40437
      Orn_aminotrans; ornithine aminotransferase
    4. NM_001322966.2NP_001309895.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variants 1, 3, 5, 6, 7, and 8, encodes isoform 1.
      Source sequence(s)
      AL445237
      Consensus CDS
      CCDS7639.1
      UniProtKB/Swiss-Prot
      D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
      UniProtKB/TrEMBL
      A0A140VJQ4
      Conserved Domains (1) summary
      TIGR01885
      Location:40437
      Orn_aminotrans; ornithine aminotransferase
    5. NM_001322967.2NP_001309896.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variants 1, 3, 4, 6, 7, and 8, encodes isoform 1.
      Source sequence(s)
      AL445237
      Consensus CDS
      CCDS7639.1
      UniProtKB/Swiss-Prot
      D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
      UniProtKB/TrEMBL
      A0A140VJQ4
      Conserved Domains (1) summary
      TIGR01885
      Location:40437
      Orn_aminotrans; ornithine aminotransferase
    6. NM_001322968.2NP_001309897.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 1, 3, 4, 5, 7, and 8, encodes isoform 1.
      Source sequence(s)
      AL445237
      Consensus CDS
      CCDS7639.1
      UniProtKB/Swiss-Prot
      D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
      UniProtKB/TrEMBL
      A0A140VJQ4
      Conserved Domains (1) summary
      TIGR01885
      Location:40437
      Orn_aminotrans; ornithine aminotransferase
    7. NM_001322969.2NP_001309898.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 1, 3, 4, 5, 6, and 8, encodes isoform 1.
      Source sequence(s)
      AL445237
      Consensus CDS
      CCDS7639.1
      UniProtKB/Swiss-Prot
      D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
      UniProtKB/TrEMBL
      A0A140VJQ4
      Conserved Domains (1) summary
      TIGR01885
      Location:40437
      Orn_aminotrans; ornithine aminotransferase
    8. NM_001322970.2NP_001309899.1  ornithine aminotransferase, mitochondrial isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 1, 3, 4, 5, 6, and 7, encodes isoform 1.
      Source sequence(s)
      AL445237
      Consensus CDS
      CCDS7639.1
      UniProtKB/Swiss-Prot
      D3DRF0, P04181, Q16068, Q16069, Q68CS0, Q6IAV9, Q9UD03
      UniProtKB/TrEMBL
      A0A140VJQ4
      Conserved Domains (1) summary
      TIGR01885
      Location:40437
      Orn_aminotrans; ornithine aminotransferase
    9. NM_001322971.2NP_001309900.1  ornithine aminotransferase, mitochondrial isoform 3

      Status: REVIEWED

      Source sequence(s)
      AK312561, AL445237, CD683561
      UniProtKB/TrEMBL
      Q59HE2
    10. NM_001322974.2NP_001309903.1  ornithine aminotransferase, mitochondrial isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL445237
      UniProtKB/TrEMBL
      Q59HE2
      Conserved Domains (1) summary
      cl18945
      Location:1237
      AAT_I; Aspartate aminotransferase (AAT) superfamily (fold type I) of pyridoxal phosphate (PLP)-dependent enzymes. PLP combines with an alpha-amino acid to form a compound called a Schiff base or aldimine intermediate, which depending on the reaction, is the ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      124397303..124418923 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      125275480..125297100 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)