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    GOT1 glutamic-oxaloacetic transaminase 1 [ Homo sapiens (human) ]

    Gene ID: 2805, updated on 27-Nov-2024

    Summary

    Official Symbol
    GOT1provided by HGNC
    Official Full Name
    glutamic-oxaloacetic transaminase 1provided by HGNC
    Primary source
    HGNC:HGNC:4432
    See related
    Ensembl:ENSG00000120053 MIM:138180; AllianceGenome:HGNC:4432
    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
    AST; AST1; SGOT; cCAT; GIG18; cAspAT; ASTQTL1
    Summary
    Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in heart (RPKM 196.1), liver (RPKM 87.7) and 14 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See GOT1 in Genome Data Viewer
    Location:
    10q24.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (99396870..99430624, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (100278791..100312550, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (101156627..101190381, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene heparanase 2 (inactive) Neighboring gene ribosomal protein L7 pseudogene 36 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:100912726-100913321 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:100950388-100950888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100996186-100996686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:100996687-100997187 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101025587-101026133 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:101056861-101057360 Neighboring gene Sharpr-MPRA regulatory region 10329 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101117719-101118386 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:101118387-101119053 Neighboring gene cyclin and CBS domain divalent metal cation transport mediator 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3868 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3870 Neighboring gene uncharacterized LOC124902570 Neighboring gene GOT1 divergent transcript

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Aspartate aminotransferase, serum level of, quantitative trait locus 1
    MedGen: C3280741 OMIM: 614419 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study identifies genetic variants in GOT1 determining serum aspartate aminotransferase levels.
    EBI GWAS Catalog
    Genome-wide association study of liver enzymes in korean children.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-aspartate:2-oxoglutarate aminotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables L-aspartate:2-oxoglutarate aminotransferase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables L-aspartate:2-oxoglutarate aminotransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables L-cysteine transaminase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables phosphatidylserine decarboxylase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in 2-oxoglutarate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in aspartate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in aspartate catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in aspartate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to insulin stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in fatty acid homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutamate catabolic process to aspartate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glutamate metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in glycerol biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in malate-aspartate shuttle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in oxaloacetate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to glucocorticoid IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in nucleus HDA PubMed 

    General protein information

    Preferred Names
    aspartate aminotransferase, cytoplasmic
    Names
    aspartate aminotransferase 1
    aspartate transaminase 1
    cysteine aminotransferase, cytoplasmic
    cysteine transaminase, cytoplasmic
    glutamate oxaloacetate transaminase 1
    glutamic-oxaloacetic transaminase 1, soluble
    growth-inhibiting protein 18
    testis secretory sperm-binding protein Li 196a
    transaminase A
    NP_002070.1

    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_032044.1 RefSeqGene

      Range
      5150..38904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002079.3NP_002070.1  aspartate aminotransferase, cytoplasmic

      See identical proteins and their annotated locations for NP_002070.1

      Status: REVIEWED

      Source sequence(s)
      AL391684, DA581933, EB387028
      Consensus CDS
      CCDS7479.1
      UniProtKB/Swiss-Prot
      B2R6R7, B7Z7E9, P17174, Q5VW80
      UniProtKB/TrEMBL
      A0A140VK69, Q2TU84
      Related
      ENSP00000359539.5, ENST00000370508.7
      Conserved Domains (1) summary
      PTZ00376
      Location:5412
      PTZ00376; aspartate aminotransferase; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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
      99396870..99430624 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      100278791..100312550 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)