PRKAB2

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PRKAB2
Protein PRKAB2 PDB 2f15.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPRKAB2, protein kinase AMP-activated non-catalytic subunit beta 2
External IDsOMIM: 602741 MGI: 1336185 HomoloGene: 38046 GeneCards: PRKAB2
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for PRKAB2
Genomic location for PRKAB2
Band1q21.1Start147,155,106 bp[1]
End147,172,550 bp[1]
RNA expression pattern
PBB GE PRKAB2 214474 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005399

NM_182997

RefSeq (protein)

NP_005390

NP_892042

Location (UCSC)Chr 1: 147.16 – 147.17 MbChr 3: 97.66 – 97.67 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

5'-AMP-activated protein kinase subunit beta-2 is an enzyme that in humans is encoded by the PRKAB2 gene.[5][6]

The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles.[6]

Related gene problems[edit]

Interactions[edit]

PRKAB2 has been shown to interact with PRKAG2[7] and PRKAG1.[7]

Research on the genes CHD1L and PRKAB2 within lymphoblast cells[8] lead to the conclusion that anomalies appear with the 1q21.1 deletion syndrome:

  • CHD1L is an enzyme which is involved in untangling the chromatids and the DNA repair system. With 1q21.1 deletion syndrome a disturbance occurs, which leads to increased DNA breaks. The role of CHD1L is similar to that of helicase with the Werner syndrome
  • PRKAB2 is involved in maintaining the energy level of cells. With 1q21.1-deletion syndrome this function was attenuated.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000131791 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038205 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Stapleton D, Mitchelhill KI, Gao G, Widmer J, Michell BJ, Teh T, House CM, Fernandez CS, Cox T, Witters LA, Kemp BE (February 1996). "Mammalian AMP-activated protein kinase subfamily". J Biol Chem. 271 (2): 611–4. doi:10.1074/jbc.271.2.611. PMID 8557660.
  6. ^ a b "Entrez Gene: PRKAB2 protein kinase, AMP-activated, beta 2 non-catalytic subunit".
  7. ^ a b Cheung, P C; Salt I P; Davies S P; Hardie D G; Carling D (March 2000). "Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding". Biochem. J. ENGLAND. 346 (3): 659–69. doi:10.1042/0264-6021:3460659. ISSN 0264-6021. PMC 1220898. PMID 10698692.
  8. ^ Harvard C, Strong E, Mercier E, Colnaghi R, Alcantara D, Chow E, Martell S, Tyson C, Hrynchak M, McGillivray B, Hamilton S, Marles S, Mhanni A, Dawson AJ, Pavlidis P, Qiao Y, Holden JJ, Lewis SM, O'Driscoll M, Rajcan-Separovic E (2011). "Understanding the impact of 1q21.1 copy number variant". Orphanet J Rare Dis. 6: 54. doi:10.1186/1750-1172-6-54. PMC 3180300. PMID 21824431.

Further reading[edit]