Human Gene PRKAA1 (uc003jmb.3)
  Description: Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit (PRKAA1), transcript variant 2, mRNA.
RefSeq Summary (NM_206907): 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. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr5:40,759,481-40,798,297 Size: 38,817 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr5:40,762,880-40,798,291 Size: 35,412 Coding Exon Count: 10 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:40,759,481-40,798,297)mRNA (may differ from genome)Protein (574 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCHPRDLynxMalacardsMGIOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PRKAA1
CDC HuGE Published Literature: PRKAA1
Positive Disease Associations: Stomach Neoplasms
Related Studies:
  1. Stomach Neoplasms
    Yongyong Shi et al. Nature genetics 2011, A genome-wide association study identifies new susceptibility loci for non-cardia gastric cancer at 3q13.31 and 5p13.1., Nature genetics. [PubMed 22037551]

-  MalaCards Disease Associations
  MalaCards Gene Search: PRKAA1
Diseases sorted by gene-association score: myotonia (2), obesity (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.09 RPKM in Adipose - Subcutaneous
Total median expression: 631.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -796.633399-0.234 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00069 - Protein kinase domain
PF07714 - Protein tyrosine kinase
PF16579 - Adenylate sensor of SNF1-like protein kinase

SCOP Domains:
56112 - Protein kinase-like (PK-like)

ModBase Predicted Comparative 3D Structure on Q13131-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  LF210219 - JP 2014500723-A/17722: Polycomb-Associated Non-Coding RNAs.
BC037303 - Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit, mRNA (cDNA clone MGC:33776 IMAGE:5265054), complete cds.
LF385025 - JP 2014500723-A/192528: Polycomb-Associated Non-Coding RNAs.
AB022017 - Homo sapiens mRNA for AMP-activated protein kinase alpha-1, complete cds.
AF100763 - Homo sapiens AMP-activated kinase alpha 1 subunit mRNA, complete cds.
BC048980 - Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit, mRNA (cDNA clone MGC:57364 IMAGE:4839033), complete cds.
AK312947 - Homo sapiens cDNA, FLJ93402, highly similar to Homo sapiens protein kinase, AMP-activated, alpha 1 catalyticsubunit (PRKAA1), mRNA.
AK307546 - Homo sapiens cDNA, FLJ97494.
JF432366 - Synthetic construct Homo sapiens clone IMAGE:100073562 protein kinase, AMP-activated, alpha 1 catalytic subunit (PRKAA1) gene, encodes complete protein.
KJ905278 - Synthetic construct Homo sapiens clone ccsbBroadEn_14776 PRKAA1 gene, encodes complete protein.
KJ905867 - Synthetic construct Homo sapiens clone ccsbBroadEn_15537 PRKAA1 gene, encodes complete protein.
KJ897376 - Synthetic construct Homo sapiens clone ccsbBroadEn_06770 PRKAA1 gene, encodes complete protein.
Y12856 - H.sapiens mRNA for AMP-activated protein kinase alpha-1, partial.
MA620602 - JP 2018138019-A/192528: Polycomb-Associated Non-Coding RNAs.
MA445796 - JP 2018138019-A/17722: Polycomb-Associated Non-Coding RNAs.
LF335772 - JP 2014500723-A/143275: Polycomb-Associated Non-Coding RNAs.
LF335771 - JP 2014500723-A/143274: Polycomb-Associated Non-Coding RNAs.
MA571349 - JP 2018138019-A/143275: Polycomb-Associated Non-Coding RNAs.
MA571348 - JP 2018138019-A/143274: Polycomb-Associated Non-Coding RNAs.
LF335770 - JP 2014500723-A/143273: Polycomb-Associated Non-Coding RNAs.
CU691476 - Synthetic construct Homo sapiens gateway clone IMAGE:100020870 5' read PRKAA1 mRNA.
LF335769 - JP 2014500723-A/143272: Polycomb-Associated Non-Coding RNAs.
CU690594 - Synthetic construct Homo sapiens gateway clone IMAGE:100020900 5' read PRKAA1 mRNA.
BC012622 - Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit, mRNA (cDNA clone IMAGE:4286367), complete cds.
U22456 - Human AMP-activated protein kinase homolog mRNA, partial cds.
LF335767 - JP 2014500723-A/143270: Polycomb-Associated Non-Coding RNAs.
AK024252 - Homo sapiens cDNA FLJ14190 fis, clone NT2RP2006534, moderately similar to 5'-AMP-ACTIVATED PROTEIN KINASE, CATALYTIC ALPHA-1 CHAIN (EC 2.7.1.-).
LF335766 - JP 2014500723-A/143269: Polycomb-Associated Non-Coding RNAs.
LF335764 - JP 2014500723-A/143267: Polycomb-Associated Non-Coding RNAs.
LF335759 - JP 2014500723-A/143262: Polycomb-Associated Non-Coding RNAs.
MA571347 - JP 2018138019-A/143273: Polycomb-Associated Non-Coding RNAs.
MA571346 - JP 2018138019-A/143272: Polycomb-Associated Non-Coding RNAs.
MA571344 - JP 2018138019-A/143270: Polycomb-Associated Non-Coding RNAs.
MA571343 - JP 2018138019-A/143269: Polycomb-Associated Non-Coding RNAs.
MA571341 - JP 2018138019-A/143267: Polycomb-Associated Non-Coding RNAs.
MA571336 - JP 2018138019-A/143262: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04140 - Regulation of autophagy
hsa04150 - mTOR signaling pathway
hsa04910 - Insulin signaling pathway
hsa04920 - Adipocytokine signaling pathway
hsa05410 - Hypertrophic cardiomyopathy (HCM)

BioCarta from NCI Cancer Genome Anatomy Project
h_chrebpPathway - ChREBP regulation by carbohydrates and cAMP
h_leptinPathway - Reversal of Insulin Resistance by Leptin

Reactome (by CSHL, EBI, and GO)

Protein Q13131 (Reactome details) participates in the following event(s):

R-HSA-200421 Activation of cytosolic AMPK by phosphorylation
R-HSA-380949 AMPK is dephosphorylated
R-HSA-380930 Phosphorylated AMPK binds AMP
R-HSA-5631941 SESN1,2,3 bind AMPK
R-HSA-5672011 p-AMPK:AMP binds the ULK complex
R-HSA-6805470 AMPK phosphorylates TP53
R-HSA-5665868 AMPK (complex) phosphorylates ULK1 (complex)
R-HSA-5675868 ULK1 phosphorylates ATG13 and RB1CC1
R-HSA-5679239 ULK complex translocates to the ER
R-HSA-380927 p-AMPK phosphorylates TSC1:TSC2
R-HSA-447074 AMPK phosphorylates Raptor in the mTORC1 complex
R-HSA-5673768 p-AMPK:AMP phosphorylates Raptor in the mTORC1 complex
R-HSA-1632857 ULK1 phosphorylates AMBRA1:Beclin-1 complex
R-HSA-5679205 ULK1 phosphorylates Beclin-1
R-HSA-380972 Energy dependent regulation of mTOR by LKB1-AMPK
R-HSA-165159 mTOR signalling
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-1632852 Macroautophagy
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-162582 Signal Transduction
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: AMPK1, NM_206907, NP_996790, Q13131-2
UCSC ID: uc003jmb.3
RefSeq Accession: NM_206907
Protein: Q13131-2, splice isoform of Q13131 CCDS: CCDS3932.2, CCDS3933.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_206907.3
exon count: 10CDS single in 3' UTR: no RNA size: 5130
ORF size: 1725CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3650.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.