Human Gene GOT1 (ENST00000370508.7_8) from GENCODE V47lift37
  Description: glutamic-oxaloacetic transaminase 1 (from RefSeq NM_002079.3)
Gencode Transcript: ENST00000370508.7_8
Gencode Gene: ENSG00000120053.12_10
Transcript (Including UTRs)
   Position: hg19 chr10:101,156,627-101,190,381 Size: 33,755 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr10:101,157,304-101,190,322 Size: 33,019 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:101,156,627-101,190,381)mRNA (may differ from genome)Protein (413 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AATC_HUMAN
DESCRIPTION: RecName: Full=Aspartate aminotransferase, cytoplasmic; EC=2.6.1.1; AltName: Full=Glutamate oxaloacetate transaminase 1; AltName: Full=Transaminase A;
FUNCTION: Plays a key role in amino acid metabolism (By similarity).
CATALYTIC ACTIVITY: L-aspartate + 2-oxoglutarate = oxaloacetate + L-glutamate.
COFACTOR: Pyridoxal phosphate.
SUBUNIT: Homodimer.
SUBCELLULAR LOCATION: Cytoplasm.
POLYMORPHISM: 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].
MISCELLANEOUS: In eukaryotes there are cytoplasmic, mitochondrial and chloroplastic isozymes.
SIMILARITY: Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GOT1
Diseases sorted by gene-association score: aspartate aminotransferase, serum level of, qtl1* (900), cholesterol ester storage disease (11), histidine metabolism disease (9), histidinemia (8), wolman disease (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 197.19 RPKM in Heart - Left Ventricle
Total median expression: 1678.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.3059-0.208 Picture PostScript Text
3' UTR -176.00677-0.260 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004839 - Aminotransferase_I/II
IPR000796 - Asp_trans
IPR004838 - NHTrfase_class1_PyrdxlP-BS
IPR015424 - PyrdxlP-dep_Trfase_major_dom
IPR015421 - PyrdxlP-dep_Trfase_major_sub1

Pfam Domains:
PF00155 - Aminotransferase class I and II

SCOP Domains:
53383 - PLP-dependent transferases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3II0 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P17174
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologGenome Browser
Gene DetailsGene Details Gene Details Gene Details
Gene SorterGene Sorter Gene Sorter Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003824 catalytic activity
GO:0004069 L-aspartate:2-oxoglutarate aminotransferase activity
GO:0004609 phosphatidylserine decarboxylase activity
GO:0008483 transaminase activity
GO:0016740 transferase activity
GO:0030170 pyridoxal phosphate binding
GO:0031406 carboxylic acid binding
GO:0047801 L-cysteine:2-oxoglutarate aminotransferase activity

Biological Process:
GO:0006094 gluconeogenesis
GO:0006103 2-oxoglutarate metabolic process
GO:0006107 oxaloacetate metabolic process
GO:0006114 glycerol biosynthetic process
GO:0006520 cellular amino acid metabolic process
GO:0006531 aspartate metabolic process
GO:0006532 aspartate biosynthetic process
GO:0006533 aspartate catabolic process
GO:0006536 glutamate metabolic process
GO:0007219 Notch signaling pathway
GO:0008652 cellular amino acid biosynthetic process
GO:0009058 biosynthetic process
GO:0009743 response to carbohydrate
GO:0019550 glutamate catabolic process to aspartate
GO:0019551 glutamate catabolic process to 2-oxoglutarate
GO:0030511 positive regulation of transforming growth factor beta receptor signaling pathway
GO:0032869 cellular response to insulin stimulus
GO:0032966 negative regulation of collagen biosynthetic process
GO:0035902 response to immobilization stress
GO:0043648 dicarboxylic acid metabolic process
GO:0046686 response to cadmium ion
GO:0051384 response to glucocorticoid
GO:0051481 negative regulation of cytosolic calcium ion concentration
GO:0051902 negative regulation of mitochondrial depolarization
GO:0055089 fatty acid homeostasis
GO:0060290 transdifferentiation
GO:0071260 cellular response to mechanical stimulus
GO:1990267 response to transition metal nanoparticle

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005829 cytosol
GO:0043679 axon terminus
GO:0070062 extracellular exosome
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  BC073749 - Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1), mRNA (cDNA clone IMAGE:6728052), **** WARNING: chimeric clone ****.
HM005609 - Homo sapiens clone HTL-S-196a testis secretory sperm-binding protein Li 196a mRNA, complete cds.
M37400 - Human cytosolic aspartate aminotransferase mRNA, complete cds.
AK293483 - Homo sapiens cDNA FLJ53826 complete cds, highly similar to Aspartate aminotransferase, cytoplasmic (EC 2.6.1.1).
BC000498 - Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1), mRNA (cDNA clone MGC:8411 IMAGE:2820849), complete cds.
AF052153 - Homo sapiens clone 24441 cytosolic aspartate aminotransferase mRNA, partial cds.
AK301916 - Homo sapiens cDNA FLJ51134 complete cds, highly similar to Aspartate aminotransferase, cytoplasmic (EC 2.6.1.1).
AY513279 - Homo sapiens growth-inhibiting protein 18 (GIG18) mRNA, complete cds.
KJ891271 - Synthetic construct Homo sapiens clone ccsbBroadEn_00665 GOT1 gene, encodes complete protein.
AK312684 - Homo sapiens cDNA, FLJ93078, Homo sapiens glutamic-oxaloacetic transaminase 1, soluble(aspartate aminotransferase 1) (GOT1), mRNA.
AB587385 - Synthetic construct DNA, clone: pF1KB5447, Homo sapiens GOT1 gene for glutamic-oxaloacetic transaminase 1, soluble, without stop codon, in Flexi system.
AK309174 - Homo sapiens cDNA, FLJ99215.
JD262645 - Sequence 243669 from Patent EP1572962.
JD493565 - Sequence 474589 from Patent EP1572962.
JD247229 - Sequence 228253 from Patent EP1572962.
JD547275 - Sequence 528299 from Patent EP1572962.
JD134577 - Sequence 115601 from Patent EP1572962.
JD303965 - Sequence 284989 from Patent EP1572962.
JD364271 - Sequence 345295 from Patent EP1572962.
JD436745 - Sequence 417769 from Patent EP1572962.
LF211334 - JP 2014500723-A/18837: Polycomb-Associated Non-Coding RNAs.
MA446911 - JP 2018138019-A/18837: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
ASPARAGINE-DEG1-PWY-1 - L-asparagine degradation
ASPARTATESYN-PWY - L-aspartate biosynthesis
CYSTEINE-DEG-PWY - L-cysteine degradation I
MALATE-ASPARTATE-SHUTTLE-PWY - malate-aspartate shuttle
PWY-5328 - superpathway of methionine degradation
PWY-5329 - L-cysteine degradation III
PWY-8043 - ophthalmate biosynthesis

BioCarta from NCI Cancer Genome Anatomy Project
h_malatePathway - Malate-aspartate shuttle

Reactome (by CSHL, EBI, and GO)

Protein P17174 (Reactome details) participates in the following event(s):

R-HSA-70581 oxaloacetate + glutamate <=> aspartate + alpha-ketoglutarate [GOT1]
R-HSA-70592 aspartate + alpha-ketoglutarate <=> oxaloacetate + glutamate [GOT1]
R-HSA-1237102 Transamination of MOB to methionine
R-HSA-70614 Amino acid synthesis and interconversion (transamination)
R-HSA-70263 Gluconeogenesis
R-HSA-1237112 Methionine salvage pathway
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-70326 Glucose metabolism
R-HSA-351202 Metabolism of polyamines
R-HSA-1614635 Sulfur amino acid metabolism
R-HSA-1430728 Metabolism
R-HSA-71387 Metabolism of carbohydrates

-  Other Names for This Gene
  Alternate Gene Symbols: AATC_HUMAN, B2R6R7, B7Z7E9, ENST00000370508.1, ENST00000370508.2, ENST00000370508.3, ENST00000370508.4, ENST00000370508.5, ENST00000370508.6, GOT1 , NM_002079, P17174, Q5VW80, uc318ila.1, uc318ila.2
UCSC ID: ENST00000370508.7_8
RefSeq Accession: NM_002079.3
Protein: P17174 (aka AATC_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.