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    GOT1L1 glutamic-oxaloacetic transaminase 1 like 1 [ Homo sapiens (human) ]

    Gene ID: 137362, updated on 10-Dec-2024

    Summary

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    Official Symbol
    GOT1L1provided by HGNC
    Official Full Name
    glutamic-oxaloacetic transaminase 1 like 1provided by HGNC
    Primary source
    HGNC:HGNC:28487
    See related
    Ensembl:ENSG00000169154 AllianceGenome:HGNC:28487
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable L-aspartate:2-oxoglutarate aminotransferase activity. Predicted to be involved in aspartate biosynthetic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 2.6) See more
    Orthologs
    mouse all
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    Genomic context

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    See GOT1L1 in Genome Data Viewer
    Location:
    8p11.23
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (37934281..37940124, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (38210697..38216524, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (37791799..37797642, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RAB11 family interacting protein 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:37737517-37738231 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:37738232-37738945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27236 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27237 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:37747172-37748110 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:37748111-37749049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19111 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:37754638-37755270 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:37767897-37768396 Neighboring gene RNA, 7SL, cytoplasmic 709, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:37773378-37773893 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:37773894-37774410 Neighboring gene Sharpr-MPRA regulatory region 5273 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:37792805-37793306 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:37797148-37797664 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:37823116-37823850 Neighboring gene adrenoceptor beta 3 Neighboring gene ribosomal protein L12 pseudogene 48

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Biosynthesis of D-aspartate in mammals: the rat and human homologs of mouse aspartate racemase are not responsible for the biosynthesis of D-aspartate. Matsuda S, et al. Amino Acids, 2015 May. PMID 25646960
    2. Localization of the structural genes for hexokinase-1 and inorganic pyrophosphatase on region (pter-->q24) of human chromosome 10. Chern CJ. Cytogenet Cell Genet, 1976. PMID 17494625
    3. Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. Martins-de-Souza D, et al. J Proteome Res, 2012 Apr 6. PMID 22360420
    4. Targeted ubiquitination and degradation of G-protein-coupled receptor kinase 5 by the DDB1-CUL4 ubiquitin ligase complex. Wu Z, et al. PLoS One, 2012. PMID 22952844, Free PMC Article
    5. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The rat and human homologs of mouse GOT1L1 are not involved in D-aspartate biosynthesis.
      Title: Biosynthesis of D-aspartate in mammals: the rat and human homologs of mouse aspartate racemase are not responsible for the biosynthesis of D-aspartate.
    2. A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
      Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
    3. Neither human hexokinase-1 nor human inorganic pyrophosphatase expression segregated concordantly with human cytoplasmic glutamic-oxaloacetic transaminase expression.
      Title: Localization of the structural genes for hexokinase-1 and inorganic pyrophosphatase on region (pter-->q24) of human chromosome 10.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC33309

    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 pyridoxal phosphate binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in aspartate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    putative aspartate aminotransferase, cytoplasmic 2
    Names
    glutamate oxaloacetate transaminase 1-like protein 1
    transaminase A-like protein 1
    NP_689626.2
    XP_005273456.1
    XP_006716348.1
    XP_047277305.1
    XP_054215716.1
    XP_054215717.1
    XP_054215718.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_152413.3 → NP_689626.2  putative aspartate aminotransferase, cytoplasmic 2

      See identical proteins and their annotated locations for NP_689626.2

      Status: VALIDATED

      Source sequence(s)
      BC029504, BM559469
      Consensus CDS
      CCDS47839.1
      UniProtKB/Swiss-Prot
      A8MWL4, Q8NHS2
      Related
      ENSP00000303077.4, ENST00000307599.5
      Conserved Domains (2) summary
      pfam00155
      Location:69 → 395
      Aminotran_1_2; Aminotransferase class I and II
      cl18945
      Location:24 → 399
      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_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      37934281..37940124 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716285.4 → XP_006716348.1  putative aspartate aminotransferase, cytoplasmic 2 isoform X2

      Conserved Domains (2) summary
      pfam00155
      Location:69 → 364
      Aminotran_1_2; Aminotransferase class I and II
      cl18945
      Location:24 → 368
      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 ...

    2. XM_005273399.4 → XP_005273456.1  putative aspartate aminotransferase, cytoplasmic 2 isoform X1

      Conserved Domains (2) summary
      pfam00155
      Location:69 → 394
      Aminotran_1_2; Aminotransferase class I and II
      cl18945
      Location:24 → 398
      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. XM_047421349.1 → XP_047277305.1  putative aspartate aminotransferase, cytoplasmic 2 isoform X3

    RNA

    1. XR_949376.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      38210697..38216524 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359742.1 → XP_054215717.1  putative aspartate aminotransferase, cytoplasmic 2 isoform X2

    2. XM_054359741.1 → XP_054215716.1  putative aspartate aminotransferase, cytoplasmic 2 isoform X1

    3. XM_054359743.1 → XP_054215718.1  putative aspartate aminotransferase, cytoplasmic 2 isoform X3

    RNA

    1. XR_008487800.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHS2.2 GenPept UniProtKB/Swiss-Prot:Q8NHS2

    Gene LinkOut

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