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OAT ornithine aminotransferase [ Homo sapiens (human) ]

Gene ID: 4942, updated on 7-Jul-2019

Summary

Official Symbol
OATprovided by HGNC
Official Full Name
ornithine aminotransferaseprovided by HGNC
Primary source
HGNC:HGNC:8091
See related
Ensembl:ENSG00000065154 MIM:613349
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

Genomic context

See OAT in Genome Data Viewer
Location:
10q26.13
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (124397303..124418976, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (126085872..126107545, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378536 Neighboring gene uncharacterized LOC107984184 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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

  • Homologs of the OAT gene: The OAT gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, A.thaliana, rice, and frog.
  • Orthologs from Annotation Pipeline: 280 organisms have orthologs with human gene OAT
  • Orthologs

Clone Names

  • DKFZp781A11155

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ornithine-oxo-acid transaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyridoxal phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
L-proline biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
arginine catabolic process to glutamate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
arginine catabolic process to proline via ornithine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular amino acid biosynthetic process TAS
Traceable Author Statement
more info
 
protein hexamerization IDA
Inferred from Direct Assay
more info
PubMed 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
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
XP_016871768.1

NCBI Reference Sequences (RefSeq)

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_000274.3NP_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
    P04181
    UniProtKB/TrEMBL
    A0A140VJQ4
    Related
    ENSP00000357838.5, ENST00000368845.5
    Conserved Domains (1) summary
    TIGR01885
    Location:40437
    Orn_aminotrans; ornithine aminotransferase
  2. NM_001171814.1NP_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/Swiss-Prot
    P04181
    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
    P04181
    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
    P04181
    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
    P04181
    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
    P04181
    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
    P04181
    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
    P04181
    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/Swiss-Prot
    P04181
  10. NM_001322974.2NP_001309903.1  ornithine aminotransferase, mitochondrial isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL445237
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    124397303..124418976 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017016279.1XP_016871768.1  ornithine aminotransferase, mitochondrial isoform X1

    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 ...
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