Gene: PRKAA1

Alternate names for this Gene: AMPK|AMPKa1

Gene Summary: The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed.

Gene is located in Chromosome: 5

Location in Chromosome : 5p13.1

Description of this Gene: protein kinase AMP-activated catalytic subunit alpha 1

Type of Gene: protein-coding

rs154275 in PRKAA1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10074991 in PRKAA1 gene and Gastric Cardia Carcinoma PMID 26129866 2016 Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours.

rs13361707 in PRKAA1 gene and Malignant neoplasm of stomach PMID 22037551 2011 We identified two new susceptibility loci for non-cardia gastric cancer at 5p13.1 (rs13361707 in the region including PTGER4 and PRKAA1; odds ratio (OR) = 1.41; P = 7.6 × 10(-29)) and 3q13.31 (rs9841504 in ZBTB20; OR = 0.76; P = 1.7 × 10(-9)).

rs1002424 in PRKAA1 gene and Schizophrenia PMID 22037555 2011 Common variants on 8p12 and 1q24.2 confer risk of schizophrenia.

rs10074991 in PRKAA1 gene and Stomach Carcinoma PMID 26129866 2016 Genome-wide association study of gastric adenocarcinoma in Asia: a comparison of associations between cardia and non-cardia tumours.

PMID 26701879 2017 Identification of new susceptibility loci for gastric non-cardia adenocarcinoma: pooled results from two Chinese genome-wide association studies.

PMID 22037551 2011 We identified two new susceptibility loci for non-cardia gastric cancer at 5p13.1 (rs13361707 in the region including PTGER4 and PRKAA1; odds ratio (OR) = 1.41; P = 7.6 × 10(-29)) and 3q13.31 (rs9841504 in ZBTB20; OR = 0.76; P = 1.7 × 10(-9)).

PMID 30281874 2018 Genome-wide association study identifies gastric cancer susceptibility loci at 12q24.11-12 and 20q11.21.