PRKAA1 (protein kinase AMP-activated catalytic subunit alpha 1)

Abstract

Protein kinase AMP-activated catalytic subunit alpha 1 (PRKAA1), also known as AMPK α1, is an energy sensor that plays a key role in the regulation of cellular energy metabolism. AMPK α1 is the catalytic subunit of the heterotrimeric AMPK protein with a length of 548 amino acids. A key switch to activate this protein is an alteration in the AMP/ATP ratio. The protein is dysregulated in several human diseases including diabetes and metabolic syndrome, cardiovascular diseases, neurodegenerative diseases and many cancer types (Steinberg and Kemp, 2009). Two isoforms of AMPK exist including AMPK α1 and AMPK α2; however, discrimination between these isoforms for their involvement in certain diseases is currently not possible. KeywordsAMP-activated catalytic subunit alpha 1, PRKAA1, AMPK α1, diabetes, neurodegenerative diseases, cancer Identity Other names: AMPK, AMPKa1, AMPK1, AMPK Alpha 1 HGNC (Hugo): PRKAA1 Location: 5p13.1 Local order Starts at 40759379 and ends at 40798195 bp from pter (according to hg38-Dec_2013) DNA/RNA Detailed genomic configuration of human PRKAA1 gene can be found in https://www.ncbi.nlm.nih.gov/gene/5562. DescriptionThe human AMPK α1 gene is located on 5p13.1 and spans about 39 kb. It contains 12 exons and 2 promoters named as PRKAA1_1 and PRKAA1_2. The gene has 3 isoforms named as PRKAA1_001, PRKAA1_002 and PRKAA1_003.