This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely us... See more...

Aliases for GPT Gene

Aliases for GPT Gene

  • Glutamic--Pyruvic Transaminase 2 3 5
  • ALT1 2 3 4
  • GPT1 2 3 4
  • Glutamic-Pyruvate Transaminase (Alanine Aminotransferase) 2 3
  • Glutamate Pyruvate Transaminase 1 3 4
  • Glutamic--Pyruvic Transaminase 1 3 4
  • Alanine Aminotransferase 1 3 4
  • Alanine Aminotransferase 2 3
  • Alanine Transaminase 2 3
  • EC 2.6.1.2 4 51
  • AAT1 3 4
  • Glutamic--Alanine Transaminase 1 4
  • Glutamic-Alanine Transaminase 1 3
  • GPT 1 4
  • GPT 5

External Ids for GPT Gene

Previous GeneCards Identifiers for GPT Gene

  • GC08P143295
  • GC08P145766
  • GC08P145333
  • GC08P145733
  • GC08P145734
  • GC08P145699
  • GC08P145632
  • GC08P145700
  • GC08P140843
  • GC08P145728

Summaries for GPT Gene

Entrez Gene Summary for GPT Gene

  • This gene encodes cytosolic alanine aminotransaminase 1 (ALT1); also known as glutamate-pyruvate transaminase 1. This enzyme catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and glutamate and, therefore, plays a key role in the intermediary metabolism of glucose and amino acids. Serum activity levels of this enzyme are routinely used as a biomarker of liver injury caused by drug toxicity, infection, alcohol, and steatosis. A related gene on chromosome 16 encodes a putative mitochondrial alanine aminotransaminase.[provided by RefSeq, Nov 2009]

GeneCards Summary for GPT Gene

GPT (Glutamic--Pyruvic Transaminase) is a Protein Coding gene. Diseases associated with GPT include Hepatitis and Viral Hepatitis. Among its related pathways are Arginine biosynthesis and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include pyridoxal phosphate binding and L-alanine:2-oxoglutarate aminotransferase activity. An important paralog of this gene is GPT2.

UniProtKB/Swiss-Prot Summary for GPT Gene

  • Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. Participates in cellular nitrogen metabolism and also in liver gluconeogenesis starting with precursors transported from skeletal muscles (By similarity).

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

Genomics for GPT Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GPT 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 GPT on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the GPT gene promoter:
  • COUP
  • E47
  • Nkx2-5
  • p53
  • Sp1

Genomic Locations for GPT Gene

Genomic Locations for GPT Gene
chr8:144,502,973-144,507,174
(GRCh38/hg38)
Size:
4,202 bases
Orientation:
Plus strand
chr8:145,728,356-145,732,557
(GRCh37/hg19)
Size:
4,202 bases
Orientation:
Plus strand

Genomic View for GPT Gene

Genes around GPT on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for GPT Gene

Proteins for GPT Gene

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

    Protein Symbol:
    P24298-ALAT1_HUMAN
    Recommended name:
    Alanine aminotransferase 1
    Protein Accession:
    P24298
    Secondary Accessions:
    • B0YJ18
    • D3DWM7
    • P78398
    • Q93076

    Protein attributes for GPT Gene

    Size:
    496 amino acids
    Molecular mass:
    54637 Da
    Cofactor:
    Name=pyridoxal 5'-phosphate; Xref=ChEBI:CHEBI:597326;
    Quaternary structure:
    • Homodimer.

neXtProt entry for GPT Gene

Selected DME Specific Peptides for GPT Gene

P24298:
  • YAVRGPIV
  • RILQACGG
  • YIERRDGGI
  • KKPFTEVIRANIGDAQAMGQ
  • SVRLCPP
  • LLEETGIC
  • INPGNPTGQ
  • ELASFHS
  • IPIPQYPLYSA
  • YMGECGFRGGY
  • GICVVPGSGFGQ
  • ADEVYQDNVY
  • HFRMTILPP

Post-translational modifications for GPT Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GPT Gene

Domains & Families for GPT Gene

Gene Families for GPT Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GPT Gene

InterPro:
Blocks:
  • Aminotransferase, class I and II
  • 1-aminocyclopropane-1-carboxylate synthase signature
ProtoNet:

Suggested Antigen Peptide Sequences for GPT Gene

GenScript: Design optimal peptide antigens:
  • Glutamic--pyruvic transaminase 1 (ALAT1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P24298

UniProtKB/Swiss-Prot:

ALAT1_HUMAN :
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily.
Family:
  • Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily.
genes like me logo Genes that share domains with GPT: view

Function for GPT Gene

Molecular function for GPT Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate. Participates in cellular nitrogen metabolism and also in liver gluconeogenesis starting with precursors transported from skeletal muscles (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-oxoglutarate + L-alanine = L-glutamate + pyruvate; Xref=Rhea:RHEA:19453, ChEBI:CHEBI:15361, ChEBI:CHEBI:16810, ChEBI:CHEBI:29985, ChEBI:CHEBI:57972; EC=2.6.1.2;.
UniProtKB/Swiss-Prot Induction:
By glucocorticoids.
GENATLAS Biochemistry:
glutamic-pyruvate transaminase (alanine aminotransferase)

Enzyme Numbers (IUBMB) for GPT Gene

Phenotypes From GWAS Catalog for GPT Gene

Gene Ontology (GO) - Molecular Function for GPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004021 L-alanine:2-oxoglutarate aminotransferase activity IBA,NAS 1931970
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 GPT: view
genes like me logo Genes that share phenotypes with GPT: view

Animal Models for GPT Gene

MGI Knock Outs for GPT:
  • Gpt Gpt<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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

Localization for GPT Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPT 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 GPT gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 4
plasma membrane 3
nucleus 3
endoplasmic reticulum 3
cytoskeleton 2
peroxisome 2
endosome 2
lysosome 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for GPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with GPT: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for GPT Gene

Pathways & Interactions for GPT Gene

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

UniProtKB/Swiss-Prot P24298-ALAT1_HUMAN

  • Pathway: Amino-acid degradation; L-alanine degradation via transaminase pathway; pyruvate from L-alanine: step 1/1.

Gene Ontology (GO) - Biological Process for GPT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0009058 biosynthetic process IEA --
GO:0032869 cellular response to insulin stimulus IEA --
GO:0042594 response to starvation IEA --
GO:0042853 L-alanine catabolic process IEA --
genes like me logo Genes that share ontologies with GPT: view

No data available for SIGNOR curated interactions for GPT Gene

Drugs & Compounds for GPT Gene

(104) Drugs for GPT Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phenelzine Approved Pharma Target, inhibitor 10
Glutamic acid Approved Nutra Agonist, Full agonist, Target 304
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 16
Famotidine Approved Pharma Histamine H2-receptor antagonist 82
Pyruvic acid Approved, Investigational Nutra 0

(39) Additional Compounds for GPT Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GPT: view

Transcripts for GPT Gene

mRNA/cDNA for GPT Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
7 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 GPT

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

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - - - -
SP2: - -
SP3: - - -
SP4:
SP5:

Relevant External Links for GPT Gene

GeneLoc Exon Structure for
GPT

Expression for GPT Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (x14.3) and Colon - Transverse (x6.5).

Protein differential expression in normal tissues from HIPED for GPT Gene

This gene is overexpressed in Liver, secretome (20.8), Skin (12.2), and Liver (12.1).

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



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

SOURCE GeneReport for Unigene cluster for GPT Gene:

Hs.103502

mRNA Expression by UniProt/SwissProt for GPT Gene:

P24298-ALAT1_HUMAN
Tissue specificity: Liver, kidney, heart, and skeletal muscles. Expressed at moderate levels in the adipose tissue.

Evidence on tissue expression from TISSUES for GPT Gene

  • Liver(4.9)
  • Nervous system(4.6)
  • Blood(4)
  • Heart(3.8)
  • Kidney(3.8)
  • Muscle(3.7)
  • Skin(3.4)
  • Intestine(3.3)
  • Urine(3.3)
  • Gall bladder(3.2)
  • Stomach(3.2)
  • Pancreas(3.1)
  • Spleen(2.9)
  • Bone marrow(2.9)
  • Thyroid gland(2.7)
  • Lymph node(2.6)
  • Adrenal gland(2.6)
  • Eye(2.5)
  • Lung(2.4)
  • Bone(2.4)
genes like me logo Genes that share expression patterns with GPT: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for GPT Gene

Orthologs for GPT Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GPT Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia GPT 30 31
  • 99.06 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia GPT 30 31
  • 87.09 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia GPT 30 31
  • 86.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gpt 30
  • 84.14 (n)
Mouse
(Mus musculus)
Mammalia Gpt 30 17 31
  • 83 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia GPT 31
  • 76 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GPT 31
  • 75 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 71 (a)
OneToMany
-- 31
  • 70 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gpt2 30
  • 70.46 (n)
Zebrafish
(Danio rerio)
Actinopterygii gpt2l 30 31
  • 68.33 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG1640 31 32
  • 45 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C32F10.8 31
  • 54 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR085W 30
  • 51.15 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ALT2 30 31
  • 48.36 (n)
ManyToMany
ALT1 31
  • 37 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons GGT1 30
  • 50.65 (n)
Rice
(Oryza sativa)
Liliopsida Os07g0108300 30
  • 51.68 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 62 (a)
OneToMany
Species where no ortholog for GPT was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for GPT Gene

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

Paralogs for GPT Gene

Paralogs for GPT Gene

(1) SIMAP similar genes for GPT Gene using alignment to 1 proteins:

  • ALAT1_HUMAN
genes like me logo Genes that share paralogs with GPT: view

Variants for GPT Gene

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

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
710602 Benign: not provided 144,504,672(+) G/A SYNONYMOUS_VARIANT
710733 Likely Benign: not provided 144,504,336(+) C/A MISSENSE_VARIANT
714261 Likely Benign: not provided 144,504,615(+) G/A SYNONYMOUS_VARIANT
717393 Benign: not provided 144,506,731(+) G/C MISSENSE_VARIANT
717394 Benign: not provided 144,506,797(+) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for GPT Gene

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

Variant ID Type Subtype PubMed ID
dgv1207n67 CNV gain 20364138
dgv12434n54 CNV loss 21841781
dgv12439n54 CNV loss 21841781
dgv12442n54 CNV loss 21841781
dgv12443n54 CNV loss 21841781
dgv907n27 CNV loss 19166990
esv29999 CNV loss 17803354
esv3619130 CNV gain 21293372
nsv428208 CNV gain 18775914
nsv470249 CNV loss 18288195
nsv515809 CNV gain+loss 19592680
nsv612940 CNV loss 21841781
nsv612951 CNV loss 21841781
nsv612962 CNV loss 21841781
nsv824810 CNV loss 20364138
nsv831489 CNV loss 17160897

Variation tolerance for GPT Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.61; 86.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GPT Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPT Gene

Disorders for GPT Gene

MalaCards: The human disease database

(232) MalaCards diseases for GPT Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hepatitis
  • hepatitis a
viral hepatitis
  • animal viral hepatitis
hepatitis d
  • delta hepatitis
scrub typhus
  • chigger-borne rickettsiosis
choledocholithiasis
- elite association - COSMIC cancer census association via MalaCards
Search GPT in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GPT

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 GPT: view

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

Publications for GPT Gene

  1. Typing classical polymorphisms by real-time PCR: analysis of the GPT and ALAD protein polymorphisms in the Jewish populations. (PMID: 18432999) Zoossmann-Diskin A … Turner D (American journal of human biology : the official journal of the Human Biology Council 2008) 3 23 41
  2. cDNA cloning, genomic structure, chromosomal mapping, and functional expression of a novel human alanine aminotransferase. (PMID: 11863375) Yang RZ … Gong DW (Genomics 2002) 3 4 23
  3. Human glutamate pyruvate transaminase (GPT): localization to 8q24.3, cDNA and genomic sequences, and polymorphic sites. (PMID: 9119391) Sohocki MM … Daiger SP (Genomics 1997) 3 4 23
  4. Complete amino acid sequence of human liver cytosolic alanine aminotransferase (GPT) determined by a combination of conventional and mass spectral methods. (PMID: 1931970) Ishiguro M … Titani K (Biochemistry 1991) 3 4 23
  5. Higher levels of alanine aminotransferase within the reference range predict unhealthy metabolic phenotypes of obesity in normoglycemic first-degree relatives of patients with type 2 diabetes mellitus. (PMID: 20433554) Mojiminiyi OA … Al Mohammedi H (Journal of clinical hypertension (Greenwich, Conn.) 2010) 3 23

Products for GPT Gene

Sources for GPT Gene