• Gene id: 2875

Gene Summary

• Gene Symbol: GPT   Gene   UCSC   Ensembl
• Aliases: AAT1, ALT1, GPT1
• Gene name: glutamic--pyruvic transaminase
• Alternate names: alanine aminotransferase 1, alanine aminotransferase, alanine transaminase, glutamate pyruvate transaminase 1, glutamic--pyruvic transaminase 1, glutamic-alanine transaminase 1, glutamic-pyruvate transaminase (alanine aminotransferase),
• Gene location: 8q24.3 (144502216: 144507173)     Exons: 12     NC_000008.11
• Gene summary(Entrez): 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, play
• OMIM: 138200

Protein Summary

• Protein general information: P24298  
  • Name: Alanine aminotransferase 1 (ALT1) (EC 2.6.1.2) (Glutamate pyruvate transaminase 1) (GPT 1) (Glutamic alanine transaminase 1) (Glutamic pyruvic transaminase 1)
  • Length: 496  
  • Mass: 54637
  • Tissue specificity: Liver, kidney, heart, and skeletal muscles. Expressed at moderate levels in the adipose tissue. {ECO
• Sequence:

  MASSTGDRSQAVRHGLRAKVLTLDGMNPRVRRVEYAVRGPIVQRALELEQELRQGVKKPFTEVIRANIGDAQAMG
  QRPITFLRQVLALCVNPDLLSSPNFPDDAKKRAERILQACGGHSLGAYSVSSGIQLIREDVARYIERRDGGIPAD
  PNNVFLSTGASDAIVTVLKLLVAGEGHTRTGVLIPIPQYPLYSATLAELGAVQVDYYLDEERAWALDVAELHRAL
  GQARDHCRPRALCVINPGNPTGQVQTRECIEAVIRFAFEERLFLLADEVYQDNVYAAGSQFHSFKKVLMEMGPPY
  AGQQELASFHSTSKGYMGECGFRGGYVEVVNMDAAVQQQMLKLMSVRLCPPVPGQALLDLVVSPPAPTDPSFAQF
  QAEKQAVLAELAAKAKLTEQVFNEAPGISCNPVQGAMYSFPRVQLPPRAVERAQELGLAPDMFFCLRLLEETGIC
  VVPGSGFGQREGTYHFRMTILPPLEKLRLLLEKLSRFHAKFTLEYS

• Structural information:
  • Interpro: IPR004839  IPR015424  IPR015422  IPR015421  
  • STRING: ENSP00000378408
• Other Databases: GeneCards:  GPT  Malacards:  GPT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004021	L-alanine:2-oxoglutarate aminotransferase activity	IBA	molecular function
GO:0009058	biosynthetic process	IEA	biological process
GO:0030170	pyridoxal phosphate binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0008483	transaminase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004021	L-alanine:2-oxoglutarate aminotransferase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008652	cellular amino acid biosynthetic process	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0045722	positive regulation of gluconeogenesis	IEA	biological process
GO:0042594	response to starvation	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0042853	L-alanine catabolic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0004021	L-alanine:2-oxoglutarate aminotransferase activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00250	Alanine, aspartate and glutamate metabolism
hsa01210	2-Oxocarboxylic acid metabolism
hsa00220	Arginine biosynthesis

Diseases

Associated diseases	References
Non-alcoholic fatty liver disease	PMID:24768200
liver cancer	PMID:22922605
Fatty liver disease	PMID:30185098
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq