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
- CAspAT 3 4
- CCAT 3 4
External Ids for GOT1 Gene
- HGNC: 4432
- Entrez Gene: 2805
- Ensembl: ENSG00000120053
- OMIM: 138180
- UniProtKB: P17174
Previous GeneCards Identifiers for GOT1 Gene
- GC10M100049
- GC10M100390
- GC10M101287
- GC10M100821
- GC10M101146
- GC10M094783
Summaries 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 superpathway of methionine degradation and 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.
Additional gene information for GOT1 Gene
- Monarch Initiative
- Search for GOT1 at DataMed
- Search for GOT1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GOT1 Gene
Genomics for GOT1 Gene
GeneHancer (GH) Regulatory Elements for GOT1 Gene
Promoters and enhancers for GOT1 Gene
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the GOT1 gene promoter:
-
- AREB6
- Egr-2
- PPAR-gamma2
- PPAR-gamma1
- STAT1
- STAT1alpha
- STAT1beta
- Egr-4
- FOXO1
- FOXO1a
Regulatory Element Products
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)
- 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:
-
- 10q24.2 by Entrez Gene
- 10q24.2 by HGNC
- 10q24.2 by Ensembl
GOT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for GOT1 Gene
Post-translational modifications for GOT1 Gene
Other Protein References for GOT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for GOT1
- Novus Biologicals Antibodies for GOT1
-
Abcam antibodies for GOT1
- Invitrogen Antibodies for GOT1 (AFLGC-GOT1)
- GeneTex GOT1 Antibody for GOT1
-
Custom Antibody ServicesProSci Antibodies for GOT1
-
Santa Cruz Biotechnology (SCBT) Antibodies for GOT1
- Sino Biological Antibodies for GOT1
Protein Products
-
OriGene Purified Proteins for GOT1
- Search Origene for MassSpec and Protein Over-expression Lysates for GOT1
- Origene Custom Protein Services for GOT1
- Sino Biological Recombinant Proteins for GOT1
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for GOT1
- Search GeneTex for Proteins for GOT1
-
ProSci Proteins for GOT1
-
Abcam proteins for GOT1
Assay Products
- Novus Biologicals ELISA Kits for GOT1
- antibodies-online: Search results for 70 available GOT1 Elisa Kits ranked by validation data
- Compare Top GOT1 Elisa Kits
-
Recommended
- 4 Chicken ELISA Kits
- 6 Cow (Bovine) ELISA Kits
- 1 Dog (Canine) ELISA Kit
- 2 Fish ELISA Kits
- 1 Goat ELISA Kit
- 1 Guinea Pig ELISA Kit
- 11 Human ELISA Kits
- 2 Monkey ELISA Kits
- 16 Mouse (Murine) ELISA Kits
- 5 Pig (Porcine) ELISA Kits
- 3 Rabbit ELISA Kits
- 15 Rat (Rattus) ELISA Kits
- 1 Sheep (Ovine) ELISA Kit
- ABIN593355
-
Abcam assays for GOT1
No data available for DME Specific Peptides for GOT1 Gene
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
Suggested Antigen Peptide Sequences for GOT1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P17174UniProtKB/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.
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:
- L-aspartate + 2-oxoglutarate = oxaloacetate + L-glutamate.
- UniProtKB/Swiss-Prot CatalyticActivity:
- L-cysteine + 2-oxoglutarate = mercaptopyruvate + L-glutamate.
- GENATLAS Biochemistry:
- glutamic-oxaloacetic transaminase 1,soluble (aspartate aminotransferase 1)
Enzyme Numbers (IUBMB) for GOT1 Gene
Phenotypes From GWAS Catalog 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 | -- |
Phenotypes for GOT1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for GOT1
- Cyagen custom Knockout/knockin (KOKI) mouse models for GOT1
-
CRISPR Products
-
OriGene CRISPR knockouts for GOT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GOT1
- genomics-online: gRNA clones - Search results for available GOT1 gene related products
- Applied Biological Materials CRISPR for GOT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GOT1
- GenScript: Design CRISPR guide RNA sequences for GOT1
miRNA for GOT1 Gene
- miRTarBase miRNAs that target GOT1
-
- hsa-mir-769-5p (MIRT039193)
- hsa-mir-7641 (MIRT497413)
- hsa-mir-4448 (MIRT497414)
- hsa-mir-549a (MIRT497415)
- hsa-mir-205-5p (MIRT497416)
- hsa-mir-1324 (MIRT497417)
- hsa-mir-3591-5p (MIRT645847)
- hsa-mir-483-3p (MIRT645848)
- hsa-mir-5003-5p (MIRT645849)
- hsa-mir-8485 (MIRT645850)
- hsa-mir-181d-5p (MIRT727535)
- hsa-mir-181c-5p (MIRT727536)
- hsa-mir-181a-5p (MIRT727537)
- hsa-mir-181b-5p (MIRT727538)
- hsa-mir-200b-3p (MIRT738765)
- hsa-mir-200c-3p (MIRT738777)
- hsa-mir-429 (MIRT743825)
- hsa-mir-452-5p (MIRT745939)
- hsa-mir-4676-3p (MIRT746894)
- hsa-mir-548a-3p (MIRT750465)
- hsa-mir-548ar-3p (MIRT750582)
- hsa-mir-548az-3p (MIRT750645)
- hsa-mir-548e-3p (MIRT750698)
- hsa-mir-548f-3p (MIRT750708)
- hsa-mir-5582-3p (MIRT750944)
- hsa-mir-6740-5p (MIRT754329)
- hsa-mir-892c-3p (MIRT760454)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GOT1
- Browse OriGene Inhibitory RNA Products For GOT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GOT1
- genomics-online: shRNA clones - Search results for available GOT1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for GOT1
- Addgene plasmids for GOT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GOT1
- genomics-online: cdna clones - Search results for available GOT1 gene related products
- orf clones - Search results for available GOT1 gene related products
- Applied Biological Materials Clones for GOT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 2 |
| peroxisome | 2 |
| lysosome | 2 |
| cytoskeleton | 1 |
- Cytosol (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | HDA | 21630459 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 7060339 |
| GO:0005739 | NOT mitochondrion | IBA | -- |
| GO:0005764 | lysosome | IEA | -- |
Pathways & Interactions for GOT1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Sulfur amino acid metabolism | ||
| 2 | Glucose metabolism |
.46
|
|
| 3 | Carbon metabolism | ||
| 4 | Phenylalanine metabolism | ||
| 5 | superpathway of methionine degradation | ||
Pathways by source for GOT1 Gene
11 BioSystems pathways for GOT1 Gene
9 Reactome pathways for GOT1 Gene
1 PharmGKB pathway for GOT1 Gene
Interacting Proteins for GOT1 Gene
GPS-Prot Interaction Network for GOT1
| 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 | -- |
No data available for SIGNOR curated interactions for GOT1 Gene
Drugs & Compounds for GOT1 Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-Mercaptopyruvic acid |
|
2464-23-5 |
|
|||
| 3-Sulfinylpyruvic acid |
|
|
||||
| 4-Hydroxy-2-oxoglutaric acid |
|
1187-99-1 |
|
|||
| 4-Hydroxy-L-glutamic acid |
|
2485-33-8 |
|
|||
| 4-Hydroxyphenylpyruvic acid |
|
156-39-8 |
|
Drug Products
Transcripts for GOT1 Gene
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 :
-
- ENST00000370508 1947 bps (uc001kpr.4)
- ENST00000489349 646 bps (uc057vht.1)
- ENST00000471741 716 bps (uc057vhu.1)
Unigene Clusters for GOT1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for GOT1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GOT1
- genomics-online: gRNA clones - Search results for available GOT1 gene related products
- Applied Biological Materials CRISPR for GOT1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for GOT1
- GenScript: Design CRISPR guide RNA sequences for GOT1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GOT1
- Browse OriGene Inhibitory RNA Products For GOT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GOT1
- genomics-online: shRNA clones - Search results for available GOT1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for GOT1
- Addgene plasmids for GOT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GOT1
- genomics-online: cdna clones - Search results for available GOT1 gene related products
- orf clones - Search results for available GOT1 gene related products
- Applied Biological Materials Clones for GOT1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for GOT1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Liver (Hepatobiliary System)
- Periportal Hepatocytes Liver Lobule
- Gut Tube (Gastrointestinal Tract)
- Kidney (Urinary System)
- Thymus (Hematopoietic System)
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).
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
NURSA nuclear receptor signaling pathways regulating expression of GOT1 Gene:
GOT1SOURCE GeneReport for Unigene cluster for GOT1 Gene:
Hs.500756Evidence 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)
Primer Products
-
OriGene qPCR primer pairs for GOT1
-
OriGene qPCR primer pairs and template standards for GOT1
- genomics-online: primer clones - Search results for available GOT1 gene related products
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | GOT1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | GOT1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | GOT1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Got1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Got1 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | GOT1 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | GOT1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GOT1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | GOT1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | got1 33 |
|
||
| Str.556 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | xr406-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | got1 34 33 |
|
OneToOne | |
| Dr.28236 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3656 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Got1 34 33 |
|
OneToMany | |
| CG8430 35 |
|
|
|||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004142 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | got-1.2 34 33 |
|
ManyToMany | |
| T01C8.5 35 |
|
|
|||
| got-1.1 34 |
|
ManyToMany | |||
| C14E2.2 35 |
|
|
|||
| T01C8.4 35 |
|
|
|||
| got-1.3 34 |
|
ManyToMany | |||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AFR211C 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | AAT2 36 34 33 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F17754g 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | ASP3 33 |
|
||
| soybean (Glycine max) |
eudicotyledons | Gma.3139 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0760600 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.6560 34 |
|
OneToMany | |
| Cin.5022 33 |
|
||||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU07941 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC10F6.13c 33 |
|
||
| 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for GOT1: view image
Paralogs for GOT1 Gene
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].
| 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3546741 | CNV | deletion | 23714750 |
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
SNP Genotyping and Copy Number Assay Products
Disorders for GOT1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| aspartate aminotransferase, serum level of, quantitative trait locus 1 |
|
|
| cholesterol ester storage disease |
|
|
| histidine metabolism disease |
|
|
| histidinemia |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for GOT1 Gene
Publications for GOT1 Gene
- 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
- 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
- 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
- The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
- 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
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for GOT1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for GOT1
- Search Origene for MassSpec and Protein Over-expression Lysates for GOT1
- Origene Custom Protein Services for GOT1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for GOT1
- Browse OriGene Inhibitory RNA Products For GOT1
- OriGene qPCR primer pairs for GOT1
- OriGene qPCR primer pairs and template standards for GOT1
- OriGene CRISPR knockouts for GOT1
- OriGene ORF clones in human for GOT1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For GOT1
- GenScript: Next-day shipping of latest version cDNA ORF clones for GOT1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for GOT1
- GenScript Custom Assay Services for GOT1
- GenScript Custom overexpressing Cell Line Services for GOT1
- GenScript: Design CRISPR guide RNA sequences for GOT1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for GOT1
- Sino Biological Human cDNA Clone for GOT1
- Sino Biological Recombinant Proteins for GOT1
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for GOT1
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for GOT1
- Novus Biologicals proteins and lysates for GOT1
- Novus Biologicals ELISA Kits for GOT1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for GOT1
- Abcam proteins for GOT1
- Abcam assays for GOT1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for GOT1
- Taconic Biosciences Mouse Models for GOT1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for GOT1 (AFLGC-GOT1)
- Cyagen custom Knockout/knockin (KOKI) mouse models for GOT1
- Addgene plasmids for GOT1
- antibodies-online: Search results for 184 available GOT1 Antibodies ranked by validation data
- Compare Top GOT1 Antibodies
- antibodies-online: Search results for 70 available GOT1 Elisa Kits ranked by validation data
- Compare Top GOT1 Elisa Kits
- Recommended
- 4 Chicken ELISA Kits
- 6 Cow (Bovine) ELISA Kits
- 1 Dog (Canine) ELISA Kit
- 2 Fish ELISA Kits
- 1 Goat ELISA Kit
- 1 Guinea Pig ELISA Kit
- 11 Human ELISA Kits
- 2 Monkey ELISA Kits
- 16 Mouse (Murine) ELISA Kits
- 5 Pig (Porcine) ELISA Kits
- 3 Rabbit ELISA Kits
- 15 Rat (Rattus) ELISA Kits
- 1 Sheep (Ovine) ELISA Kit
- ABIN593355
- antibodies-online: Search results for 29 available GOT1 Proteins ranked by validation data
- Compare Top GOT1 Proteins
- GeneTex GOT1 Antibody for GOT1
- Search GeneTex for Proteins for GOT1
- Santa Cruz Biotechnology (SCBT) Antibodies for GOT1
- Search Santa Cruz Biotechnology (SCBT) for GOT1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for GOT1
- Custom Antibody ServicesProSci Antibodies for GOT1
- ProSci Proteins for GOT1
- Horizon Cell Lines for GOT1
- genomics-online: cdna clones - Search results for available GOT1 gene related products
- orf clones - Search results for available GOT1 gene related products
- genomics-online: gRNA clones - Search results for available GOT1 gene related products
- genomics-online: primer clones - Search results for available GOT1 gene related products
- genomics-online: shRNA clones - Search results for available GOT1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for GOT1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for GOT1
- GeneCopoeia miRNA 3'UTR Target clone products for GOT1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GOT1
Sources for GOT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt