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] See more...

Aliases for GOT1 Gene

Aliases for GOT1 Gene

  • Glutamic-Oxaloacetic Transaminase 1 2 3 5
  • Glutamate Oxaloacetate Transaminase 1 2 3 4
  • Glutamic-Oxaloacetic Transaminase 1, Soluble 2 3
  • Aspartate Aminotransferase, Cytoplasmic 3 4
  • Cysteine Aminotransferase, Cytoplasmic 3 4
  • Cysteine Transaminase, Cytoplasmic 3 4
  • Aspartate Aminotransferase 1 2 3
  • Aspartate Transaminase 1 2 3
  • Transaminase A 3 4
  • EC 2.6.1.1 4 51
  • CAspAT 3 4
  • AST1 2 3
  • CCAT 3 4
  • Glutamic-Oxaloacetic Transaminase 1, Soluble (Aspartate Aminotransferase 1) 2
  • Testis Secretory Sperm-Binding Protein Li 196a 3
  • Growth-Inhibiting Protein 18 3
  • EC 2.6.1.3 4
  • ASTQTL1 3
  • GIG18 3
  • GOT1 5

External Ids for GOT1 Gene

Previous GeneCards Identifiers for GOT1 Gene

  • GC10M100049
  • GC10M100390
  • GC10M101287
  • GC10M100821
  • GC10M101146
  • GC10M094783

Summaries for GOT1 Gene

Entrez Gene Summary for GOT1 Gene

  • 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]

GeneCards Summary for GOT1 Gene

GOT1 (Glutamic-Oxaloacetic Transaminase 1) is a Protein Coding gene. Diseases associated with GOT1 include Aspartate Aminotransferase, Serum Level Of, Quantitative Trait Locus 1 and Lujo Hemorrhagic Fever. Among its related pathways are Glucose metabolism and Tyrosine metabolism. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and carboxylic acid binding. An important paralog of this gene is GOT2.

UniProtKB/Swiss-Prot Summary for GOT1 Gene

  • Biosynthesis of L-glutamate from L-aspartate or L-cysteine. Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain neuroprotection. The aspartate aminotransferase activity is involved in hepatic glucose synthesis during development and in adipocyte glyceroneogenesis. Using L-cysteine as substrate, regulates levels of mercaptopyruvate, an important source of hydrogen sulfide. Mercaptopyruvate is converted into H(2)S via the action of 3-mercaptopyruvate sulfurtransferase (3MST). Hydrogen sulfide is an important synaptic modulator and neuroprotectant in the brain.

Gene Wiki entry for GOT1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GOT1 Gene

Genomics for GOT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GOT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J099428 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.1 123 3.8 CEBPG SP1 HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 REST TFE3 ENSG00000224934 GOT1 LOC101927300 CHUK NKX2-3 LOC107984261 CNNM1
GH10J099451 Enhancer 1 Ensembl ENCODE 11.6 -20.8 -20776 1.6 GATAD2A PRDM10 FOXA1 ZSCAN4 ZNF600 ZNF341 ZNF561 SCRT2 SOX13 FOXA2 GOT1 ENSG00000224934 NKX2-3 piR-38351-058 RF00066-027
GH10J099707 Enhancer 1.1 Ensembl ENCODE dbSUPER 10 -278.6 -278628 3.1 LEF1 BACH1 IKZF2 RCOR1 BRD9 DPF2 PKNOX1 EP300 ARID3A PAX8 MN297004 MN297005 piR-32294 piR-52682 ENTPD7 ENSG00000224934 GOT1 NKX2-3 BLOC1S2 CUTC
GH10J099394 Enhancer 0.9 ENCODE 11.3 +34.7 34676 2.7 GATAD2A PRDM10 ZNF629 TFE3 SOX13 NFKBIZ FOXA1 PRDM1 ZIC2 RXRB ENSG00000224934 GOT1 CNNM1 NKX2-3 piR-57195-041 piR-50589
GH10J099550 Enhancer 0.9 ENCODE dbSUPER 10.7 -120.9 -120906 1.4 PRDM10 ZNF629 ZNF692 PRDM1 ZIC2 PATZ1 ZNF600 ZNF341 ZNF561 SCRT2 GOT1 ENSG00000224934 CUTC piR-31210-007 NKX2-3 SLC25A28
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GOT1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GOT1

Top Transcription factor binding sites by QIAGEN in the GOT1 gene promoter:
  • AREB6
  • Egr-2
  • Egr-4
  • FOXO1
  • FOXO1a
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for GOT1 Gene

Genomic Locations for GOT1 Gene
chr10:99,396,870-99,430,624
(GRCh38/hg38)
Size:
33,755 bases
Orientation:
Minus strand
chr10:101,156,627-101,190,530
(GRCh37/hg19)
Size:
33,904 bases
Orientation:
Minus strand

Genomic View for GOT1 Gene

Genes around GOT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GOT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GOT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GOT1 Gene

Proteins for GOT1 Gene

  • Protein details for GOT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17174-AATC_HUMAN
    Recommended name:
    Aspartate aminotransferase, cytoplasmic
    Protein Accession:
    P17174
    Secondary Accessions:
    • B2R6R7
    • B7Z7E9
    • Q5VW80

    Protein attributes for GOT1 Gene

    Size:
    413 amino acids
    Molecular mass:
    46248 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • In eukaryotes there are cytoplasmic, mitochondrial and chloroplastic isozymes.
    • Aspartate aminotransferase activity found to be increased in cerebral spinal fluid (CSF) of patients with Alzheimer disease (PubMed:16039064). Fetal serum levels of the enzyme in the umbilical artery and vein are found to be significantly higher than maternal serum levels (PubMed:22633534).

    Three dimensional structures from OCA and Proteopedia for GOT1 Gene

    Alternative splice isoforms for GOT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GOT1 Gene

Selected DME Specific Peptides for GOT1 Gene

P17174:
  • SKNFGLYNERVG
  • TWSNPPAQGARIVA
  • KHIYLLPSGRIN
  • HNPTGIDPT
  • AYQGFASG
  • HITDQIGMF
  • DAWAIRYFV
  • DPTPEQW
  • GMFSFTGL
  • GTGALRIGA
  • CASRLALGDDSPAL
  • NHEYLPILGLAEFR
  • DLENAPEFSI
  • TLSNPELF
  • NVKTMADR
  • EKRVGGV
  • KVEQKIAN
  • NLGVGAYR
  • YVSSPTWENHN
  • AGFKDIR
  • CAHNPTG

Post-translational modifications for GOT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GOT1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for GOT1 Gene

Gene Families for GOT1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GOT1 Gene

InterPro:
Blocks:
  • Aminotransferase, class I and II
  • Aspartate aminotransferase signature
  • Aminotransferase, class-I
ProtoNet:

Suggested Antigen Peptide Sequences for GOT1 Gene

GenScript: Design optimal peptide antigens:
  • Transaminase A (AATC_HUMAN)
  • Aspartate aminotransferase (B7Z1I2_HUMAN)
  • Aspartate aminotransferase (B7Z7E9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17174

UniProtKB/Swiss-Prot:

AATC_HUMAN :
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
Family:
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.
genes like me logo Genes that share domains with GOT1: view

Function for GOT1 Gene

Molecular function for GOT1 Gene

UniProtKB/Swiss-Prot Function:
Biosynthesis of L-glutamate from L-aspartate or L-cysteine. Important regulator of levels of glutamate, the major excitatory neurotransmitter of the vertebrate central nervous system. Acts as a scavenger of glutamate in brain neuroprotection. The aspartate aminotransferase activity is involved in hepatic glucose synthesis during development and in adipocyte glyceroneogenesis. Using L-cysteine as substrate, regulates levels of mercaptopyruvate, an important source of hydrogen sulfide. Mercaptopyruvate is converted into H(2)S via the action of 3-mercaptopyruvate sulfurtransferase (3MST). Hydrogen sulfide is an important synaptic modulator and neuroprotectant in the brain.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-aspartate = L-glutamate + oxaloacetate; Xref=Rhea:RHEA:21824, ChEBI:CHEBI:16452, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:29991; EC=2.6.1.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-cysteine = 3-mercaptopyruvate + L-glutamate; Xref=Rhea:RHEA:17441, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:35235, ChEBI:CHEBI:57678; EC=2.6.1.3;.
GENATLAS Biochemistry:
glutamic-oxaloacetic transaminase 1,soluble (aspartate aminotransferase 1)

Enzyme Numbers (IUBMB) for GOT1 Gene

Phenotypes From GWAS Catalog for GOT1 Gene

Gene Ontology (GO) - Molecular Function for GOT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004069 L-aspartate:2-oxoglutarate aminotransferase activity IBA,ISS --
GO:0004609 phosphatidylserine decarboxylase activity IEA --
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with GOT1: view
genes like me logo Genes that share phenotypes with GOT1: view

Animal Models for GOT1 Gene

MGI Knock Outs for GOT1:
  • Got1 Got1<tm1b(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for GOT1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GOT1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GOT1 Gene

Localization for GOT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GOT1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GOT1 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
lysosome 3
mitochondrion 2
peroxisome 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GOT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005634 nucleus HDA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 7060339
GO:0005764 lysosome IEA --
genes like me logo Genes that share ontologies with GOT1: view

Pathways & Interactions for GOT1 Gene

genes like me logo Genes that share pathways with GOT1: view

SIGNOR curated interactions for GOT1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GOT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006094 gluconeogenesis TAS --
GO:0006103 2-oxoglutarate metabolic process ISS --
GO:0006107 oxaloacetate metabolic process IEA --
GO:0006114 glycerol biosynthetic process ISS --
GO:0006520 cellular amino acid metabolic process IEA --
genes like me logo Genes that share ontologies with GOT1: view

Drugs & Compounds for GOT1 Gene

(16) Drugs for GOT1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspartic acid Approved Nutra Target 182
Cysteine Approved Nutra Target, substrate 250
Glutamic acid Approved Nutra Agonist, Full agonist, Target 304
Pyridoxal Phosphate Approved, Investigational Nutra Target, activator 16
Adapalene Approved Pharma Target, inhibitor RAR尾 and RAR纬 agonist 90

(7) Additional Compounds for GOT1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Mercaptopyruvic acid
  • 3-mercapto-2-Oxopropanoic acid
  • 3-Mercaptopyruvate
  • Mercaptopyruvate
  • 3-mercapto-2-Oxopropanoate
  • Mercaptopyruvic acid
2464-23-5
4-Hydroxy-2-oxoglutaric acid
  • (+/-)-2-hydroxy-4-oxopentanedioate
  • (+/-)-2-hydroxy-4-oxopentanedioic acid
  • 2-Hydroxy-4-oxopentanedioate
  • 2-Hydroxy-4-oxopentanedioic acid
  • 2-keto-4-Hydroxyglutarate
1187-99-1
4-Hydroxy-L-glutamic acid
  • beta-Hydroxyglutamate
  • beta-Hydroxyglutamic acid
  • erythro-L-BHGA
  • Hydroxyglutamic acid, (DL)-isomer
  • Hydroxyglutamic acid, erythro-(DL)-isomer
2485-33-8
B-Sulfinyl pyruvate
  • 3-Sulfinopyruvate
  • 3-Sulfinylpyruvate
  • 3-Sulfinopyruvic acid
  • 3-Sulphinopyruvate
  • 3-Sulphinopyruvic acid
88947-38-0
D-4-Hydroxy-2-oxoglutarate
  • (R)-2-Hydroxy-4-ketopentanedioic acid
  • (R)-2-Hydroxy-4-oxopentanedioic acid
  • D-4-Hydroxy-2-ketoglutaric acid
  • (R)-2-Hydroxy-4-ketopentanedioate
  • D-4-Hydroxy-2-oxoglutaric acid
genes like me logo Genes that share compounds with GOT1: view

Transcripts for GOT1 Gene

mRNA/cDNA for GOT1 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GOT1

Alternative Splicing Database (ASD) splice patterns (SP) for GOT1 Gene

No ASD Table

Relevant External Links for GOT1 Gene

GeneLoc Exon Structure for
GOT1

Expression for GOT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for GOT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GOT1 Gene

This gene is overexpressed in Heart - Left Ventricle (x7.8), Liver (x5.5), Muscle - Skeletal (x4.3), and Heart - Atrial Appendage (x4.3).

Protein differential expression in normal tissues from HIPED for GOT1 Gene

This gene is overexpressed in Liver, secretome (13.5), Heart (7.6), and Tonsil (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GOT1 Gene



Protein tissue co-expression partners for GOT1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GOT1

SOURCE GeneReport for Unigene cluster for GOT1 Gene:

Hs.500756

Evidence on tissue expression from TISSUES for GOT1 Gene

  • Nervous system(5)
  • Liver(4.8)
  • Heart(4.6)
  • Lung(4.6)
  • Kidney(3.9)
  • Muscle(3.5)
  • Intestine(2.7)
  • Skin(2.7)
  • Blood(2.6)
  • Thyroid gland(2.4)
  • Gall bladder(2.2)
  • Eye(2.2)
  • Stomach(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with GOT1: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GOT1 Gene

Orthologs for GOT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GOT1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GOT1 30 31
  • 99.68 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GOT1 30 31
  • 89.51 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GOT1 30 31
  • 89.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Got1 30
  • 87.49 (n)
Mouse
(Mus musculus)
Mammalia Got1 30 17 31
  • 87.09 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GOT1 31
  • 81 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GOT1 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves GOT1 30 31
  • 76.12 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia GOT1 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia got1 30
  • 73.43 (n)
Str.556 30
African clawed frog
(Xenopus laevis)
Amphibia xr406-prov 30
Zebrafish
(Danio rerio)
Actinopterygii got1 30 31
  • 72.45 (n)
OneToOne
Dr.28236 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3656 30
Fruit Fly
(Drosophila melanogaster)
Insecta Got1 30 31
  • 59.27 (n)
OneToMany
CG8430 32
  • 56 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004142 30
  • 58.54 (n)
Worm
(Caenorhabditis elegans)
Secernentea got-1.2 30 31
  • 58.5 (n)
ManyToMany
T01C8.5 32
  • 53 (a)
got-1.1 31
  • 51 (a)
ManyToMany
C14E2.2 32
  • 47 (a)
T01C8.4 32
  • 41 (a)
got-1.3 31
  • 37 (a)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR211C 30
  • 51.88 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AAT2 30 31 33
  • 51.8 (n)
OneToMany
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F17754g 30
  • 50.86 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons ASP3 30
  • 55.61 (n)
Soybean
(Glycine max)
eudicotyledons Gma.3139 30
Rice
(Oryza sativa)
Liliopsida Os01g0760600 30
  • 55.94 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6560 31
  • 57 (a)
OneToMany
Bread mold
(Neurospora crassa)
Ascomycetes NCU07941 30
  • 54.59 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC10F6.13c 30
  • 51.03 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5022 30
Species where no ortholog for GOT1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GOT1 Gene

ENSEMBL:
Gene Tree for GOT1 (if available)
TreeFam:
Gene Tree for GOT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GOT1: view image

Paralogs for GOT1 Gene

Paralogs for GOT1 Gene

(3) SIMAP similar genes for GOT1 Gene using alignment to 2 proteins:

  • AATC_HUMAN
  • B7Z7E9_HUMAN

Pseudogenes.org Pseudogenes for GOT1 Gene

genes like me logo Genes that share paralogs with GOT1: view

Variants for GOT1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GOT1 Gene

AATC_HUMAN-P17174
Genetic variations in GOT1 are associated with low serum aspartate aminotransferase and define the aspartate aminotransferase serum level quantitative trait locus 1 (ASTQTL1) [MIM:614419].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GOT1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
29724 Pathogenic: Aspartate aminotransferase, serum level of, quantitative trait locus 1 99,397,621(-) CGTT/C INFRAME_DELETION
709106 Benign: not provided 99,405,850(-) T/C MISSENSE_VARIANT
713620 Benign: not provided 99,403,879(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for GOT1 Gene

Structural Variations from Database of Genomic Variants (DGV) for GOT1 Gene

Variant ID Type Subtype PubMed ID
esv3546741 CNV deletion 23714750

Variation tolerance for GOT1 Gene

Residual Variation Intolerance Score: 35.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.83; 34.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GOT1 Gene

Human Gene Mutation Database (HGMD)
GOT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GOT1

SNP Genotyping and Copy Number Assay Products

Disorders for GOT1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for GOT1 Gene - From: OMIM, ClinVar, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
aspartate aminotransferase, serum level of, quantitative trait locus 1
  • astqtl1
lujo hemorrhagic fever
  • zambian hemorrhagic fever
epstein-barr virus hepatitis
hepatic coma
  • hepatocerebral intoxication
- elite association - COSMIC cancer census association via MalaCards
Search GOT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GOT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with GOT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GOT1 Gene

Publications for GOT1 Gene

  1. Properties of human liver cytosolic aspartate aminotransferase mRNAs generated by alternative polyadenylation site selection. (PMID: 1974457) Bousquet-Lemercier B … Barouki R (Biochemistry 1990) 2 3 4
  2. Genome-wide association study identifies genetic variants in GOT1 determining serum aspartate aminotransferase levels. (PMID: 21900944) Shen H … Gong DW (Journal of human genetics 2011) 3 4
  3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 41
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for GOT1 Gene

  • Addgene plasmids for GOT1

Sources for GOT1 Gene