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

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Sex Differences in the Association Between AST/ALT and Incidence of Type 2 Diabetes in Japanese Patients with Nonalcoholic Fatty Liver Disease: A Retrospective Cohort Study.
Title: Sex Differences in the Association Between AST/ALT and Incidence of Type 2 Diabetes in Japanese Patients with Nonalcoholic Fatty Liver Disease: A Retrospective Cohort Study.
Tumor Cell Derived Exosomal GOT1 Suppresses Tumor Cell Ferroptosis to Accelerate Pancreatic Cancer Progression by Activating Nrf2/HO-1 Axis via Upregulating CCR2 Expression.
Title: Tumor Cell Derived Exosomal GOT1 Suppresses Tumor Cell Ferroptosis to Accelerate Pancreatic Cancer Progression by Activating Nrf2/HO-1 Axis via Upregulating CCR2 Expression.
Glutamate-Oxaloacetate Transaminase 1 Impairs Glycolysis by Interacting with Pyruvate Carboxylase and Further Inhibits the Malignant Phenotypes of Glioblastoma Cells.
Title: Glutamate-Oxaloacetate Transaminase 1 Impairs Glycolysis by Interacting with Pyruvate Carboxylase and Further Inhibits the Malignant Phenotypes of Glioblastoma Cells.
Aspartate aminotransferase to alanine aminotransferase ratio is associated with frailty and mortality in older patients with heart failure.
Title: Aspartate aminotransferase to alanine aminotransferase ratio is associated with frailty and mortality in older patients with heart failure.
Structural and functional analysis of disease-associated mutations in GOT1 gene: An in silico study.
Title: Structural and functional analysis of disease-associated mutations in GOT1 gene: An in silico study.
GOT1 inhibition promotes pancreatic cancer cell death by ferroptosis.
Title: GOT1 inhibition promotes pancreatic cancer cell death by ferroptosis.
Clinical implications of aminotransferase elevation in hospitalised infants aged 8-90 days with respiratory virus detection.
Title: Clinical implications of aminotransferase elevation in hospitalised infants aged 8-90 days with respiratory virus detection.
GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.
Title: GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms.
Ambulatory end-stage liver disease in Ghana; patient profile and utility of alpha fetoprotein and aspartate aminotransferase: platelet ratio index.
Title: Ambulatory end-stage liver disease in Ghana; patient profile and utility of alpha fetoprotein and aspartate aminotransferase: platelet ratio index.
Moderate to severe liver siderosis and raised AST are independent risk factors for vitamin D insufficiency in beta-thalassemia patients.
Title: Moderate to severe liver siderosis and raised AST are independent risk factors for vitamin D insufficiency in β-thalassemia patients.

Submit: New GeneRIF Correction See all GeneRIFs (52)

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

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 EBI GWAS CatalogPubMed
Genome-wide association study identifies genetic variants in GOT1 determining serum aspartate aminotransferase levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of liver enzymes in korean children. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S1309E (e-PCR)
- UniSTS:151341

D10S2167 (e-PCR)
- UniSTS:4949

GOT1 (e-PCR)
- UniSTS:266597

GDB:193865 (e-PCR)
- UniSTS:155773

RH47701 (e-PCR)
- UniSTS:7850

D10S2414 (e-PCR)
- UniSTS:35582

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 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 more info	PubMed
located_in nucleus	HDA more info	PubMed

General protein information

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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

EC 2.6.1.1

EC 2.6.1.3

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.