Human Gene PRKAB1 (ENST00000229328.10_4) from GENCODE V47lift37
  Description: protein kinase AMP-activated non-catalytic subunit beta 1 (from RefSeq NM_006253.5)
Gencode Transcript: ENST00000229328.10_4
Gencode Gene: ENSG00000111725.11_8
Transcript (Including UTRs)
   Position: hg19 chr12:120,105,938-120,119,424 Size: 13,487 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr12:120,106,050-120,118,130 Size: 12,081 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:120,105,938-120,119,424)mRNA (may differ from genome)Protein (270 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AAKB1_HUMAN
DESCRIPTION: RecName: Full=5'-AMP-activated protein kinase subunit beta-1; Short=AMPK subunit beta-1; Short=AMPKb;
FUNCTION: Non-catalytic subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. Also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. Beta non-catalytic subunit acts as a scaffold on which the AMPK complex assembles, via its C-terminus that bridges alpha (PRKAA1 or PRKAA2) and gamma subunits (PRKAG1, PRKAG2 or PRKAG3).
SUBUNIT: AMPK is a heterotrimer of an alpha catalytic subunit (PRKAA1 or PRKAA2), a beta (PRKAB1 or PRKAB2) and a gamma non- catalytic subunits (PRKAG1, PRKAG2 or PRKAG3). Interacts with FNIP1 and FNIP2.
INTERACTION: P62993:GRB2; NbExp=2; IntAct=EBI-719769, EBI-401755; P54619:PRKAG1; NbExp=3; IntAct=EBI-719769, EBI-1181439;
DOMAIN: The glycogen-binding domain may target AMPK to glycogen so that other factors like glycogen-bound debranching enzyme or protein phosphatases can directly affect AMPK activity (By similarity).
PTM: Phosphorylated when associated with the catalytic subunit (PRKAA1 or PRKAA2). Phosphorylated by ULK1; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1 and AMPK.
SIMILARITY: Belongs to the 5'-AMP-activated protein kinase beta subunit family.
SEQUENCE CAUTION: Sequence=AAB71326.1; Type=Erroneous gene model prediction; Sequence=AAC98897.1; Type=Frameshift; Positions=245;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/PRKAB1ID44100ch12q24.html";

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: PRKAB1
Diseases sorted by gene-association score: fatty liver disease (4), obesity (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 39.22 RPKM in Kidney - Cortex
Total median expression: 609.61 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
5' UTR -42.00112-0.375 Picture PostScript Text
3' UTR -427.801294-0.331 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
  InterPro Domains: Graphical view of domain structure
IPR006828 - AMP_prot_kin_bsu_interact-dom

Pfam Domains:
PF04739 - 5'-AMP-activated protein kinase beta subunit, interaction domain
PF16561 - Glycogen recognition site of AMP-activated protein kinase

SCOP Domains:
81296 - E set domains
49452 - Starch-binding domain-like
160219 - AMPKBI-like

ModBase Predicted Comparative 3D Structure on Q9Y478
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 DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004672 protein kinase activity
GO:0004679 AMP-activated protein kinase activity
GO:0005515 protein binding
GO:0019901 protein kinase binding

Biological Process:
GO:0006468 protein phosphorylation
GO:0006629 lipid metabolic process
GO:0006631 fatty acid metabolic process
GO:0006633 fatty acid biosynthetic process
GO:0007050 cell cycle arrest
GO:0007165 signal transduction
GO:0010628 positive regulation of gene expression
GO:0016236 macroautophagy
GO:0035878 nail development
GO:0050790 regulation of catalytic activity
GO:0051291 protein heterooligomerization

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0031588 nucleotide-activated protein kinase complex
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  KJ891882 - Synthetic construct Homo sapiens clone ccsbBroadEn_01276 PRKAB1 gene, encodes complete protein.
LF206933 - JP 2014500723-A/14436: Polycomb-Associated Non-Coding RNAs.
AK312495 - Homo sapiens cDNA, FLJ92856, highly similar to Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.
BC017671 - Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit, mRNA (cDNA clone MGC:17785 IMAGE:3884583), complete cds.
AF022116 - Homo sapiens 5'-AMP-activated protein kinase beta-1 mRNA, complete cds.
BC001007 - Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit, mRNA (cDNA clone MGC:8608 IMAGE:2961281), complete cds.
BC001056 - Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit, mRNA (cDNA clone MGC:1878 IMAGE:2961281), complete cds.
BC001823 - Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit, mRNA (cDNA clone MGC:3758 IMAGE:2961281), complete cds.
BC018818 - Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit, mRNA (cDNA clone IMAGE:2822893).
U83994 - Human AMP-activated protein kinase beta subunit mRNA, complete cds.
AK301165 - Homo sapiens cDNA FLJ57208 complete cds, highly similar to 5'-AMP-activated protein kinase subunit beta-1.
Y12556 - H.sapiens mRNA for AMP-activated protein kinase beta-1.
JD408234 - Sequence 389258 from Patent EP1572962.
JD536083 - Sequence 517107 from Patent EP1572962.
AB590811 - Synthetic construct DNA, clone: pFN21AE1764, Homo sapiens PRKAB1 gene for protein kinase, AMP-activated, beta 1 non-catalytic subunit, without stop codon, in Flexi system.
AJ224515 - Homo sapiens mRNA for AMP-activated protein kinase beta 1.
LF359475 - JP 2014500723-A/166978: Polycomb-Associated Non-Coding RNAs.
BX537486 - Homo sapiens mRNA; cDNA DKFZp686D2236 (from clone DKFZp686D2236).
AK127820 - Homo sapiens cDNA FLJ45922 fis, clone PLACE6008444, weakly similar to 5'-AMP-activated protein kinase, beta-1 subunit.
JD072489 - Sequence 53513 from Patent EP1572962.
JD544358 - Sequence 525382 from Patent EP1572962.
JD279050 - Sequence 260074 from Patent EP1572962.
JD388028 - Sequence 369052 from Patent EP1572962.
JD339536 - Sequence 320560 from Patent EP1572962.
JD214781 - Sequence 195805 from Patent EP1572962.
JD247987 - Sequence 229011 from Patent EP1572962.
JD557723 - Sequence 538747 from Patent EP1572962.
JD464771 - Sequence 445795 from Patent EP1572962.
JD362574 - Sequence 343598 from Patent EP1572962.
JD328074 - Sequence 309098 from Patent EP1572962.
JD553890 - Sequence 534914 from Patent EP1572962.
JD280079 - Sequence 261103 from Patent EP1572962.
JD349396 - Sequence 330420 from Patent EP1572962.
JD502194 - Sequence 483218 from Patent EP1572962.
JD317290 - Sequence 298314 from Patent EP1572962.
JD511117 - Sequence 492141 from Patent EP1572962.
JD127324 - Sequence 108348 from Patent EP1572962.
MA442510 - JP 2018138019-A/14436: Polycomb-Associated Non-Coding RNAs.
MA595052 - JP 2018138019-A/166978: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  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 Q9Y478 (Reactome details) participates in the following event(s):

R-HSA-380930 Phosphorylated AMPK binds AMP
R-HSA-380949 AMPK is dephosphorylated
R-HSA-200421 Activation of cytosolic AMPK by phosphorylation
R-HSA-5631941 SESN1,2,3 bind AMPK
R-HSA-5672011 p-AMPK:AMP binds the ULK complex
R-HSA-1454699 AMPK-alpha2 phosphorylates TBC1D1
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-1592244 AMPK phosphorylates PPARGC1A
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-5628897 TP53 Regulates Metabolic Genes
R-HSA-1632852 Macroautophagy
R-HSA-165159 mTOR signalling
R-HSA-1445148 Translocation of GLUT4 to the plasma membrane
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-162582 Signal Transduction
R-HSA-199991 Membrane Trafficking
R-HSA-2151209 Activation of PPARGC1A (PGC-1alpha) by phosphorylation
R-HSA-5633007 Regulation of TP53 Activity
R-HSA-212436 Generic Transcription Pathway
R-HSA-5653656 Vesicle-mediated transport
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: AAKB1_HUMAN, AMPK, ENST00000229328.1, ENST00000229328.2, ENST00000229328.3, ENST00000229328.4, ENST00000229328.5, ENST00000229328.6, ENST00000229328.7, ENST00000229328.8, ENST00000229328.9, NM_006253, Q9UBV0, Q9UE20, Q9UEX2, Q9Y478, Q9Y6V8, uc317dqi.1, uc317dqi.2
UCSC ID: ENST00000229328.10_4
RefSeq Accession: NM_006253.5
Protein: Q9Y478 (aka AAKB1_HUMAN or AAKB_HUMAN)

-  Gene Model Information
  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.