Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Identity

Alias_namesalpha
1
Alias_symbol (synonym)AMPKa1
Other aliasAMPK
HGNC (Hugo) PRKAA1
LocusID (NCBI) 5562
Atlas_Id 43428
Location 5p13.1  [Link to chromosome band 5p13]
Location_base_pair Starts at 40759481 and ends at 40798297 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BAZ2B (2q24.2) / PRKAA1 (5p13.1)C5orf15 (5q31.1) / PRKAA1 (5p13.1)EIF4EBP1 (8p11.23) / PRKAA1 (5p13.1)
IFT81 (12q24.11) / PRKAA1 (5p13.1)PRKAA1 (5p13.1) / TFEB (6p21.1)PRKAA1 (5p13.1) / TTC33 (5p13.1)
TFEB (6p21.1) / PRKAA1 (5p13.1)UBE2V2 (8q11.21) / PRKAA1 (5p13.1)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Lung: Translocations in Squamous Cell Carcinoma


External links

Nomenclature
HGNC (Hugo)PRKAA1   9376
Cards
Entrez_Gene (NCBI)PRKAA1  5562  protein kinase AMP-activated catalytic subunit alpha 1
AliasesAMPK; AMPKa1
GeneCards (Weizmann)PRKAA1
Ensembl hg19 (Hinxton)ENSG00000132356 [Gene_View]  chr5:40759481-40798297 [Contig_View]  PRKAA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000132356 [Gene_View]  chr5:40759481-40798297 [Contig_View]  PRKAA1 [Vega]
ICGC DataPortalENSG00000132356
TCGA cBioPortalPRKAA1
AceView (NCBI)PRKAA1
Genatlas (Paris)PRKAA1
WikiGenes5562
SOURCE (Princeton)PRKAA1
Genetics Home Reference (NIH)PRKAA1
Genomic and cartography
GoldenPath hg19 (UCSC)PRKAA1  -     chr5:40759481-40798297 -  5p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PRKAA1  -     5p13.1   [Description]    (hg38-Dec_2013)
EnsemblPRKAA1 - 5p13.1 [CytoView hg19]  PRKAA1 - 5p13.1 [CytoView hg38]
Mapping of homologs : NCBIPRKAA1 [Mapview hg19]  PRKAA1 [Mapview hg38]
OMIM602739   
Gene and transcription
Genbank (Entrez)AB022017 AF100763 AK024252 AK307546 AK312947
RefSeq transcript (Entrez)NM_006251 NM_206907
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_006576 NW_004929321
Consensus coding sequences : CCDS (NCBI)PRKAA1
Cluster EST : UnigeneHs.43322 [ NCBI ]
CGAP (NCI)Hs.43322
Alternative Splicing GalleryENSG00000132356
Gene ExpressionPRKAA1 [ NCBI-GEO ]   PRKAA1 [ EBI - ARRAY_EXPRESS ]   PRKAA1 [ SEEK ]   PRKAA1 [ MEM ]
Gene Expression Viewer (FireBrowse)PRKAA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5562
GTEX Portal (Tissue expression)PRKAA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13131   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13131  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13131
Splice isoforms : SwissVarQ13131
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
PhosPhoSitePlusQ13131
Domaine pattern : Prosite (Expaxy)PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)   
Domains : Interpro (EBI)AMPK_C    KA1/Ssp2_C    Kinase-like_dom    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_dual-sp_kinase    Ser/Thr_kinase_AS   
Domain families : Pfam (Sanger)AdenylateSensor (PF16579)    Pkinase (PF00069)   
Domain families : Pfam (NCBI)pfam16579    pfam00069   
Domain families : Smart (EMBL)S_TKc (SM00220)  
Conserved Domain (NCBI)PRKAA1
DMDM Disease mutations5562
Blocks (Seattle)PRKAA1
PDB (SRS)4RED    4RER    4REW   
PDB (PDBSum)4RED    4RER    4REW   
PDB (IMB)4RED    4RER    4REW   
PDB (RSDB)4RED    4RER    4REW   
Structural Biology KnowledgeBase4RED    4RER    4REW   
SCOP (Structural Classification of Proteins)4RED    4RER    4REW   
CATH (Classification of proteins structures)4RED    4RER    4REW   
SuperfamilyQ13131
Human Protein AtlasENSG00000132356
Peptide AtlasQ13131
HPRD04115
IPIIPI00792482   IPI00410287   IPI00061282   
Protein Interaction databases
DIP (DOE-UCLA)Q13131
IntAct (EBI)Q13131
FunCoupENSG00000132356
BioGRIDPRKAA1
STRING (EMBL)PRKAA1
ZODIACPRKAA1
Ontologies - Pathways
QuickGOQ13131
Ontology : AmiGOactivation of MAPK activity  response to hypoxia  chromatin binding  protein kinase activity  AMP-activated protein kinase activity  cAMP-dependent protein kinase activity  protein binding  ATP binding  intracellular  nucleus  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytosol  glucose metabolic process  transcription, DNA-templated  regulation of transcription, DNA-templated  protein phosphorylation  fatty acid biosynthetic process  cholesterol biosynthetic process  cell cycle arrest  signal transduction  protein C-terminus binding  positive regulation of cell proliferation  lipid biosynthetic process  response to UV  cold acclimation  response to gamma radiation  positive regulation of autophagy  positive regulation of autophagy  positive regulation of gene expression  response to activity  Wnt signaling pathway  macroautophagy  apical plasma membrane  fatty acid oxidation  kinase binding  response to caffeine  nucleotide-activated protein kinase complex  cellular response to nutrient levels  negative regulation of TOR signaling  regulation of peptidyl-serine phosphorylation  histone serine kinase activity  histone-serine phosphorylation  intracellular signal transduction  cellular response to glucose starvation  glucose homeostasis  regulation of circadian rhythm  negative regulation of apoptotic process  positive regulation of cholesterol biosynthetic process  positive regulation of glycolytic process  negative regulation of glucosylceramide biosynthetic process  metal ion binding  [hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity  rhythmic process  positive regulation of skeletal muscle tissue development  tau-protein kinase activity  [acetyl-CoA carboxylase] kinase activity  negative regulation of lipid catabolic process  protein heterooligomerization  fatty acid homeostasis  regulation of vesicle-mediated transport  cellular response to hydrogen peroxide  cellular response to ethanol  cellular response to prostaglandin E stimulus  cellular response to organonitrogen compound  cellular response to hypoxia  response to camptothecin  regulation of signal transduction by p53 class mediator  regulation of energy homeostasis  negative regulation of glucose import in response to insulin stimulus  
Ontology : EGO-EBIactivation of MAPK activity  response to hypoxia  chromatin binding  protein kinase activity  AMP-activated protein kinase activity  cAMP-dependent protein kinase activity  protein binding  ATP binding  intracellular  nucleus  nucleus  nucleus  nucleoplasm  cytoplasm  cytoplasm  cytosol  glucose metabolic process  transcription, DNA-templated  regulation of transcription, DNA-templated  protein phosphorylation  fatty acid biosynthetic process  cholesterol biosynthetic process  cell cycle arrest  signal transduction  protein C-terminus binding  positive regulation of cell proliferation  lipid biosynthetic process  response to UV  cold acclimation  response to gamma radiation  positive regulation of autophagy  positive regulation of autophagy  positive regulation of gene expression  response to activity  Wnt signaling pathway  macroautophagy  apical plasma membrane  fatty acid oxidation  kinase binding  response to caffeine  nucleotide-activated protein kinase complex  cellular response to nutrient levels  negative regulation of TOR signaling  regulation of peptidyl-serine phosphorylation  histone serine kinase activity  histone-serine phosphorylation  intracellular signal transduction  cellular response to glucose starvation  glucose homeostasis  regulation of circadian rhythm  negative regulation of apoptotic process  positive regulation of cholesterol biosynthetic process  positive regulation of glycolytic process  negative regulation of glucosylceramide biosynthetic process  metal ion binding  [hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity  rhythmic process  positive regulation of skeletal muscle tissue development  tau-protein kinase activity  [acetyl-CoA carboxylase] kinase activity  negative regulation of lipid catabolic process  protein heterooligomerization  fatty acid homeostasis  regulation of vesicle-mediated transport  cellular response to hydrogen peroxide  cellular response to ethanol  cellular response to prostaglandin E stimulus  cellular response to organonitrogen compound  cellular response to hypoxia  response to camptothecin  regulation of signal transduction by p53 class mediator  regulation of energy homeostasis  negative regulation of glucose import in response to insulin stimulus  
Pathways : BIOCARTAChREBP regulation by carbohydrates and cAMP [Genes]    Reversal of Insulin Resistance by Leptin [Genes]   
Pathways : KEGGFoxO signaling pathway    Regulation of autophagy    mTOR signaling pathway    PI3K-Akt signaling pathway    Circadian rhythm    Insulin signaling pathway    Adipocytokine signaling pathway    Non-alcoholic fatty liver disease (NAFLD)    Hypertrophic cardiomyopathy (HCM)   
NDEx NetworkPRKAA1
Atlas of Cancer Signalling NetworkPRKAA1
Wikipedia pathwaysPRKAA1
Orthology - Evolution
OrthoDB5562
GeneTree (enSembl)ENSG00000132356
Phylogenetic Trees/Animal Genes : TreeFamPRKAA1
HOVERGENQ13131
HOGENOMQ13131
Homologs : HomoloGenePRKAA1
Homology/Alignments : Family Browser (UCSC)PRKAA1
Gene fusions - Rearrangements
Fusion : MitelmanEIF4EBP1/PRKAA1 [8p11.23/5p13.1]  [t(5;8)(p13;p11)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRKAA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRKAA1
dbVarPRKAA1
ClinVarPRKAA1
1000_GenomesPRKAA1 
Exome Variant ServerPRKAA1
ExAC (Exome Aggregation Consortium)PRKAA1 (select the gene name)
Genetic variants : HAPMAP5562
Genomic Variants (DGV)PRKAA1 [DGVbeta]
DECIPHER (Syndromes)5:40759481-40798297  ENSG00000132356
CONAN: Copy Number AnalysisPRKAA1 
Mutations
ICGC Data PortalPRKAA1 
TCGA Data PortalPRKAA1 
Broad Tumor PortalPRKAA1
OASIS PortalPRKAA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRKAA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRKAA1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PRKAA1
DgiDB (Drug Gene Interaction Database)PRKAA1
DoCM (Curated mutations)PRKAA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRKAA1 (select a term)
intoGenPRKAA1
Cancer3DPRKAA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602739   
Orphanet
MedgenPRKAA1
Genetic Testing Registry PRKAA1
NextProtQ13131 [Medical]
TSGene5562
GENETestsPRKAA1
Huge Navigator PRKAA1 [HugePedia]
snp3D : Map Gene to Disease5562
BioCentury BCIQPRKAA1
ClinGenPRKAA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5562
Chemical/Pharm GKB GenePA33744
Clinical trialPRKAA1
Miscellaneous
canSAR (ICR)PRKAA1 (select the gene name)
Probes
Litterature
PubMed297 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRKAA1
EVEXPRKAA1
GoPubMedPRKAA1
iHOPPRKAA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:22:53 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.