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

Gene ID: 137362, updated on 5-Mar-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 active in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 2.6) See more
Orthologs
mouse all
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Genomic context

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Location:
8p11.23
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (37934281..37940124, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (38210697..38216524, complement)
105.20220307 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 H3K27ac hESC enhancer GRCh37_chr8:37773378-37773893 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:37773894-37774410 Neighboring gene RNA, 7SL, cytoplasmic 709, pseudogene 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 ReSE screen-validated silencer GRCh37_chr8:37845776-37845966 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:37871736-37871907 Neighboring gene NANOG hESC enhancer GRCh37_chr8:37872816-37873317 Neighboring gene Sharpr-MPRA regulatory region 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:37892967-37893468 Neighboring gene eukaryotic translation initiation factor 4E binding protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:37911667-37911880

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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)

Genotypes

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_2023_10

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

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