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GOT1 Gene(Protein Coding)

Glutamic-Oxaloacetic Transaminase 1

GCID:
GC10M099396
GIFtS:
56
Genes Participants
UDN Logo

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
  • 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 56
  • CAspAT 3 4
  • CCAT 3 4
  • Glutamic-Oxaloacetic Transaminase 1, Soluble (Aspartate Aminotransferase 1) 2
  • Testis Secretory Sperm-Binding Protein Li 196a 3
  • Aspartate Aminotransferase, Cytoplasmic 3
  • Growth-Inhibiting Protein 18 3
  • EC 2.6.1.3 4
  • ASTQTL1 3
  • GIG18 3
  • AST1 3

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 Cholesterol Ester Storage Disease. Among its related pathways are Glycosaminoglycan metabolism and Phenylalanine 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 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

Additional gene information for GOT1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GOT1 Gene

Genomics for GOT1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for GOT1 Gene

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
GH10I099429 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.1 144 3.2 PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B ZNF143 FOS LOC101927300 GC10P099431 GOT1 CWF19L1 CHUK HPS1 PHBP9 SLC25A28 DNMBP PIR44588
GH10I099394 Enhancer 1.1 Ensembl ENCODE 11.2 +34.8 34825 2.7 FOXA2 ARID4B FEZF1 ZNF48 ETS1 FOS PAF1 RXRA SP5 NFYC LOC101927300 GOT1 CNNM1 NKX2-3 PIR44588
GH10I099550 Enhancer 1 ENCODE dbSUPER 10.7 -120.8 -120757 1.4 PKNOX1 INSM2 FEZF1 ZNF2 ZNF335 ZNF366 ZSCAN5C SCRT2 ZNF391 ZNF398 GOT1 LOC101927300 CUTC NKX2-3 GC10P099610
GH10I099391 Enhancer 0.9 Ensembl ENCODE 11.2 +38.0 38048 2.2 CTCF SAP130 RB1 ZNF2 RAD21 TEAD3 SCRT2 SMC3 ZNF143 ZNF444 LOC101927300 GOT1 CNNM1 NKX2-3 PIR44588
GH10I099707 Enhancer 1 ENCODE dbSUPER 10 -278.4 -278411 3 PKNOX1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 JUNB ZNF592 PIR43293 PIR46681 ENTPD7 GOT1 LOC101927300 NKX2-3 BLOC1S2 GC10M099706 CUTC PIR46433
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GOT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GOT1 gene promoter:

Genomic Locations for GOT1 Gene

Genomic Locations for GOT1 Gene
chr10:99,396,870-99,430,773
(GRCh38/hg38)
Size:
33,904 bases
Orientation:
Minus strand
chr10:101,156,627-101,190,530
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for GOT1 Gene

Proteins for GOT1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:
    • 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).
    • In eukaryotes there are cytoplasmic, mitochondrial and chloroplastic isozymes.

    Three dimensional structures from OCA and Proteopedia for GOT1 Gene

    Alternative splice isoforms for GOT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GOT1 Gene

Protein Expression for GOT1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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

No Post-translational modifications

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:
ProtoNet:

Suggested Antigen Peptide Sequences for GOT1 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for GOT1 Gene

GENATLAS Biochemistry:
glutamic-oxaloacetic transaminase 1,soluble (aspartate aminotransferase 1)
UniProtKB/Swiss-Prot CatalyticActivity:
L-aspartate + 2-oxoglutarate = oxaloacetate + L-glutamate.
UniProtKB/Swiss-Prot CatalyticActivity:
L-cysteine + 2-oxoglutarate = mercaptopyruvate + L-glutamate.
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.

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:0004069 L-aspartate:2-oxoglutarate aminotransferase activity TAS --
GO:0004609 phosphatidylserine decarboxylase activity IEA --
GO:0008483 transaminase activity IEA --
GO:0016740 transferase activity IEA --
GO:0030170 pyridoxal phosphate binding IEA --
genes like me logo Genes that share ontologies with GOT1: view
genes like me logo Genes that share phenotypes with GOT1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GOT1

No data available for Human Phenotype Ontology , Animal Models , 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
extracellular 5
nucleus 5
cytosol 5
mitochondrion 2
peroxisome 2
lysosome 2
cytoskeleton 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:0005634 nucleus IDA,HDA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 7060339
GO:0005739 NOT mitochondrion IBA --
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

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 IEA,ISS --
GO:0006520 cellular amino acid metabolic process IEA --
genes like me logo Genes that share ontologies with GOT1: view

No data available for SIGNOR curated interactions for GOT1 Gene

Drugs & Compounds for GOT1 Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic Acid Approved Nutra Full agonist, Agonist, Target 251
L-Aspartic acid Approved Nutra Target 0
L-Cysteine Approved Nutra Target 0
Pyridoxal Phosphate Approved, Investigational Nutra Target, activator 17
Copper Approved, Investigational Pharma Target 202

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Mercaptopyruvic acid
  • 3-Mercapto-pyruvate
  • 3-Mercapto-pyruvic acid
  • 3-Mercaptopyruvate
  • 3-Mercaptopyruvic acid
  • beta-3-Mercapto-2-oxo-propanoate
 2464-23-5
3-Sulfinylpyruvic acid
  • 3-Sulfinopyruvate
  • 3-Sulfinyl-pyruvate
  • 3-Sulfinylpyruvate
  • 3-Sulphinyl-pyruvate
  • beta-Sulfinylpyruvate
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
  • (2S)-2-amino-4-hydroxypentanedioate
  • (2S)-2-amino-4-hydroxypentanedioic acid
  • 4-Hydroxy-L-glutamate
  • 4-Hydroxy-L-glutamic acid
  • Erythro-4-hydroxyglutamate
 2485-33-8
4-Hydroxyphenylpyruvic acid
  • (p-hydroxyphenyl)-Pyruvate
  • (p-hydroxyphenyl)-Pyruvic acid
  • (p-Hydroxyphenyl)pyruvate
  • (p-Hydroxyphenyl)pyruvic acid
  • 3-(4-Hydroxyphenyl)-2-oxo-propanoate
 156-39-8
genes like me logo Genes that share compounds with GOT1: view

Transcripts for GOT1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for GOT1 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(584) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GOT1 Gene

Glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
GOT1

Expression for GOT1 Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for GOT1 Gene
mRNA expression by GTEx for GOT1 GenemRNA expression by BioGPS 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, PaxDb, MaxQB, and MOPED for GOT1 Gene



Protein tissue co-expression partners for GOT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GOT1 Gene:

GOT1

SOURCE GeneReport for Unigene cluster for GOT1 Gene:

Hs.500756

Evidence on tissue expression from TISSUES for GOT1 Gene

  • Nervous system(5)
  • Liver(4.7)
  • Lung(4.5)
  • Heart(4.1)
  • Kidney(3.7)
  • Muscle(3.3)
  • Blood(2.3)
  • Intestine(2.3)
genes like me logo Genes that share expression patterns with GOT1: view

Primer Products

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 33 34
  • 99.68 (n)
cow
(Bos Taurus)
 Mammalia GOT1 33 34
  • 89.51 (n)
dog
(Canis familiaris)
 Mammalia GOT1 33 34
  • 89.43 (n)
rat
(Rattus norvegicus)
 Mammalia Got1 33
  • 87.49 (n)
mouse
(Mus musculus)
 Mammalia Got1 33 16 34
  • 87.09 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia GOT1 34
  • 81 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia GOT1 34
  • 74 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves GOT1 33 34
  • 76.12 (n)
lizard
(Anolis carolinensis)
 Reptilia GOT1 34
  • 81 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia got1 33
  • 73.43 (n)
Str.556 33
African clawed frog
(Xenopus laevis)
 Amphibia xr406-prov 33
zebrafish
(Danio rerio)
 Actinopterygii got1 33 34
  • 72.45 (n)
Dr.28236 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.3656 33
fruit fly
(Drosophila melanogaster)
 Insecta Got1 33 34
  • 59.27 (n)
CG8430 35
  • 56 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP004142 33
  • 58.54 (n)
worm
(Caenorhabditis elegans)
 Secernentea got-1.2 33 34
  • 58.5 (n)
T01C8.5 35
  • 53 (a)
got-1.1 34
  • 51 (a)
 ManyToMany
C14E2.2 35
  • 47 (a)
T01C8.4 35
  • 41 (a)
got-1.3 34
  • 37 (a)
 ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AFR211C 33
  • 51.88 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AAT2 33 34 36
  • 51.8 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F17754g 33
  • 50.86 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons ASP3 33
  • 55.61 (n)
soybean
(Glycine max)
 eudicotyledons Gma.3139 33
rice
(Oryza sativa)
 Liliopsida Os01g0760600 33
  • 55.94 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.6560 34
  • 57 (a)
 OneToMany
bread mold
(Neurospora crassa)
 Ascomycetes NCU07941 33
  • 54.59 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes SPAC10F6.13c 33
  • 51.03 (n)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.5022 33
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)

Paralogs for GOT1 Gene

Paralogs for GOT1 Gene

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

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 from dbSNP and Humsavar for GOT1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000322922 -- 99,430,496(-) C/A/T coding_sequence_variant, missense_variant
rs1000369476 -- 99,416,098(-) C/A intron_variant
rs1000501085 -- 99,424,939(-) A/G intron_variant
rs1000510853 -- 99,421,651(-) G/A intron_variant
rs1000575634 -- 99,423,647(-) C/T intron_variant

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

Disorders for GOT1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
aspartate aminotransferase, serum level of, quantitative trait locus 1
  • astqtl1
cholesterol ester storage disease
histidine metabolism disease
  • disturbances of histidine metabolism
histidinemia
  • histidine ammonia-lyase deficiency
lysosomal acid lipase deficiency
  • cholesteryl ester storage disease; cesd
- 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
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 58
  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 58
  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 44 58
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  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 58

Products for GOT1 Gene

  • Addgene plasmids for GOT1

Sources for GOT1 Gene

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