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Entry version 176 (16 Oct 2019)
Sequence version 1 (01 May 2000)
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Protein

5'-AMP-activated protein kinase subunit gamma-2

Gene

PRKAG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

AMP/ATP-binding 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. Gamma non-catalytic subunit mediates binding to AMP, ADP and ATP, leading to activate or inhibit AMPK: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei302AMP, ADP or ATP 2By similarity1
Binding sitei362AMP, ADP or ATP 1; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei383AMP 3By similarity1
Binding sitei402AMP, ADP or ATP 2By similarity1
Binding sitei432AMP 3By similarity1
Binding sitei437AMP 3; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei501AMP, ADP or ATP 2By similarity1
Binding sitei509AMP, ADP or ATP 2; via amide nitrogen and carbonyl oxygenBy similarity1
Binding sitei530AMP 3By similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi319 – 322AMP, ADP or ATP 1By similarity4
Nucleotide bindingi383 – 384AMP, ADP or ATP 1By similarity2
Nucleotide bindingi458 – 459AMP 3By similarity2
Nucleotide bindingi474 – 477AMP, ADP or ATP 2By similarity4
Nucleotide bindingi530 – 531AMP, ADP or ATP 2By similarity2
Nucleotide bindingi546 – 549AMP 3By similarity4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processFatty acid biosynthesis, Fatty acid metabolism, Lipid biosynthesis, Lipid metabolism
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1445148 Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-1632852 Macroautophagy
R-HSA-163680 AMPK inhibits chREBP transcriptional activation activity
R-HSA-200425 Import of palmitoyl-CoA into the mitochondrial matrix
R-HSA-2151209 Activation of PPARGC1A (PGC-1alpha) by phosphorylation
R-HSA-380972 Energy dependent regulation of mTOR by LKB1-AMPK
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-9613354 Lipophagy
R-HSA-9619483 Activation of AMPK downstream of NMDARs

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q9UGJ0

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9UGJ0

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
5'-AMP-activated protein kinase subunit gamma-2
Short name:
AMPK gamma2
Short name:
AMPK subunit gamma-2
Alternative name(s):
H91620p
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PRKAG2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:9386 PRKAG2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
602743 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9UGJ0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Wolff-Parkinson-White syndrome (WPWS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA supernormal conduction disorder characterized by the presence of one or several accessory atrioventricular connections, which can lead to episodes of sporadic tachycardia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_013264302R → Q in WPWS and CMH6; impaired AMP- and ATP-binding. 3 PublicationsCorresponds to variant dbSNP:rs121908987EnsemblClinVar.1
Natural variantiVAR_032909531R → G in WPWS; absence of cardiac hypertrophy; onset in childhood; impaired AMP- and ATP-binding. 2 PublicationsCorresponds to variant dbSNP:rs121908990EnsemblClinVar.1
Cardiomyopathy, familial hypertrophic 6 (CMH6)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. CMH6 patients present Wolff-Parkinson-White ventricular preexcitation, enlarged myocytes without myofiber disarray, and glycogen-containing cytosolic vacuoles within cardiomyocytes.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013264302R → Q in WPWS and CMH6; impaired AMP- and ATP-binding. 3 PublicationsCorresponds to variant dbSNP:rs121908987EnsemblClinVar.1
Natural variantiVAR_013265350R → RL in CMH6; severe. 1 Publication1
Natural variantiVAR_013266383H → R in CMH6; severe; impaired AMP- and ATP-binding. 2 PublicationsCorresponds to variant dbSNP:rs121908988EnsemblClinVar.1
Natural variantiVAR_013267400T → N in CMH6; severe; impaired AMP- and ATP-binding. 2 PublicationsCorresponds to variant dbSNP:rs28938173EnsemblClinVar.1
Natural variantiVAR_013268488N → I in CMH6; severe. 1 PublicationCorresponds to variant dbSNP:rs121908989EnsemblClinVar.1
Glycogen storage disease of heart lethal congenital (GSDH)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionRare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_013269531R → Q in GSDH; reduction of binding affinities for AMP and ATP; loss of cooperative binding; enhanced basal activity; increased phosphorylation of the alpha-subunit. 1 PublicationCorresponds to variant dbSNP:rs121908991EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi387V → S: Induces phosphorylation by AMPK. 1 Publication1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Glycogen storage disease

Organism-specific databases

DisGeNET

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DisGeNETi
51422

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
PRKAG2

MalaCards human disease database

More...
MalaCardsi
PRKAG2
MIMi194200 phenotype
261740 phenotype
600858 phenotype

Open Targets

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OpenTargetsi
ENSG00000106617

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
907 NON RARE IN EUROPE: Wolff-Parkinson-White syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA33752

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q9UGJ0

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2453

Drug and drug target database

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DrugBanki
DB00945 Acetylsalicylic acid
DB12010 Fostamatinib

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PRKAG2

Domain mapping of disease mutations (DMDM)

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DMDMi
14285344

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002043811 – 5695'-AMP-activated protein kinase subunit gamma-2Add BLAST569

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei65PhosphoserineBy similarity1
Modified residuei71PhosphoserineCombined sources1
Modified residuei73PhosphoserineBy similarity1
Modified residuei90PhosphoserineBy similarity1
Modified residuei138PhosphoserineBy similarity1
Modified residuei143PhosphoserineBy similarity1
Modified residuei161PhosphoserineBy similarity1
Modified residuei162PhosphoserineBy similarity1
Modified residuei165PhosphothreonineBy similarity1
Modified residuei196PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by ULK1; leading to negatively regulate AMPK activity and suggesting the existence of a regulatory feedback loop between ULK1 and AMPK.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9UGJ0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UGJ0

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9UGJ0

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9UGJ0

PeptideAtlas

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PeptideAtlasi
Q9UGJ0

PRoteomics IDEntifications database

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PRIDEi
Q9UGJ0

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
84222 [Q9UGJ0-1]
84223 [Q9UGJ0-2]
84224 [Q9UGJ0-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9UGJ0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9UGJ0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Isoform B is ubiquitously expressed except in liver and thymus. The highest level is detected in heart with abundant expression in placenta and testis.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000106617 Expressed in 207 organ(s), highest expression level in right atrium auricular region

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UGJ0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UGJ0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB018641
HPA004246

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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.

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
119531, 29 interactors

Protein interaction database and analysis system

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IntActi
Q9UGJ0, 24 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000287878

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q9UGJ0

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini275 – 335CBS 1PROSITE-ProRule annotationAdd BLAST61
Domaini357 – 415CBS 2PROSITE-ProRule annotationAdd BLAST59
Domaini430 – 492CBS 3PROSITE-ProRule annotationAdd BLAST63
Domaini504 – 562CBS 4PROSITE-ProRule annotationAdd BLAST59

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi370 – 391AMPK pseudosubstrateAdd BLAST22

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The AMPK pseudosubstrate motif resembles the sequence around sites phosphorylated on target proteins of AMPK, except the presence of a non-phosphorylatable residue in place of Ser. In the absence of AMP this pseudosubstrate sequence may bind to the active site groove on the alpha subunit (PRKAA1 or PRKAA2), preventing phosphorylation by the upstream activating kinase STK11/LKB1.
The 4 CBS domains mediate binding to nucleotides. Of the 4 potential nucleotide-binding sites, 3 are occupied, designated as sites 1, 3, and 4 based on the CBS modules that provide the acidic residue for coordination with the 2'- and 3'-hydroxyl groups of the ribose of AMP. Of these, site 4 appears to be a structural site that retains a tightly held AMP molecule (AMP 3). The 2 remaining sites, 1 and 3, can bind either AMP, ADP or ATP. Site 1 (AMP, ADP or ATP 1) is the high-affinity binding site and likely accommodates AMP or ADP. Site 3 (AMP, ADP or ATP 2) is the weakest nucleotide-binding site on the gamma subunit, yet it is exquisitely sensitive to changes in nucleotide levels and this allows AMPK to respond rapidly to changes in cellular energy status. Site 3 is likely to be responsible for protection of a conserved threonine in the activation loop of the alpha catalytic subunit through conformational changes induced by binding of AMP or ADP.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

CBS domain, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1764 Eukaryota
COG0517 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000183019

KEGG Orthology (KO)

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KOi
K07200

Identification of Orthologs from Complete Genome Data

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OMAi
YYCQFPD

Database of Orthologous Groups

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OrthoDBi
614199at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UGJ0

TreeFam database of animal gene trees

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TreeFami
TF313247

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR039170 AMPKG-2
IPR000644 CBS_dom

The PANTHER Classification System

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PANTHERi
PTHR13780:SF122 PTHR13780:SF122, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00571 CBS, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00116 CBS, 4 hits

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51371 CBS, 4 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform A (identifier: Q9UGJ0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MGSAVMDTKK KKDVSSPGGS GGKKNASQKR RSLRVHIPDL SSFAMPLLDG
60 70 80 90 100
DLEGSGKHSS RKVDSPFGPG SPSKGFFSRG PQPRPSSPMS APVRPKTSPG
110 120 130 140 150
SPKTVFPFSY QESPPRSPRR MSFSGIFRSS SKESSPNSNP ATSPGGIRFF
160 170 180 190 200
SRSRKTSGLS SSPSTPTQVT KQHTFPLESY KHEPERLENR IYASSSPPDT
210 220 230 240 250
GQRFCPSSFQ SPTRPPLASP THYAPSKAAA LAAALGPAEA GMLEKLEFED
260 270 280 290 300
EAVEDSESGV YMRFMRSHKC YDIVPTSSKL VVFDTTLQVK KAFFALVANG
310 320 330 340 350
VRAAPLWESK KQSFVGMLTI TDFINILHRY YKSPMVQIYE LEEHKIETWR
360 370 380 390 400
ELYLQETFKP LVNISPDASL FDAVYSLIKN KIHRLPVIDP ISGNALYILT
410 420 430 440 450
HKRILKFLQL FMSDMPKPAF MKQNLDELGI GTYHNIAFIH PDTPIIKALN
460 470 480 490 500
IFVERRISAL PVVDESGKVV DIYSKFDVIN LAAEKTYNNL DITVTQALQH
510 520 530 540 550
RSQYFEGVVK CNKLEILETI VDRIVRAEVH RLVVVNEADS IVGIISLSDI
560
LQALILTPAG AKQKETETE
Length:569
Mass (Da):63,066
Last modified:May 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF51C30668C294089
GO
Isoform B (identifier: Q9UGJ0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-241: Missing.

Show »
Length:328
Mass (Da):37,509
Checksum:iD8402E96E46DB5A5
GO
Isoform C (identifier: Q9UGJ0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-44: Missing.

Show »
Length:525
Mass (Da):58,439
Checksum:i873DEE12F27F133D
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WDA1F8WDA1_HUMAN
5'-AMP-activated protein kinase sub...
PRKAG2
229Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C1K7A0A494C1K7_HUMAN
5'-AMP-activated protein kinase sub...
PRKAG2
524Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C123A0A494C123_HUMAN
5'-AMP-activated protein kinase sub...
PRKAG2
445Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C026A0A494C026_HUMAN
5'-AMP-activated protein kinase sub...
PRKAG2
208Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C094A0A494C094_HUMAN
5'-AMP-activated protein kinase sub...
PRKAG2
212Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C0H7A0A494C0H7_HUMAN
5'-AMP-activated protein kinase sub...
PRKAG2
184Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C155A0A494C155_HUMAN
5'-AMP-activated protein kinase sub...
PRKAG2
287Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C188A0A494C188_HUMAN
5'-AMP-activated protein kinase sub...
PRKAG2
276Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C1R6A0A494C1R6_HUMAN
5'-AMP-activated protein kinase sub...
PRKAG2
92Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PGP6E9PGP6_HUMAN
5'-AMP-activated protein kinase sub...
PRKAG2
444Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH20540 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAS02032 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAA84695 differs from that shown. Reason: Frameshift. Frameshifts are upstream of the initiating Met of isoform B.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0482506M → L. Corresponds to variant dbSNP:rs3207363Ensembl.1
Natural variantiVAR_013264302R → Q in WPWS and CMH6; impaired AMP- and ATP-binding. 3 PublicationsCorresponds to variant dbSNP:rs121908987EnsemblClinVar.1
Natural variantiVAR_013265350R → RL in CMH6; severe. 1 Publication1
Natural variantiVAR_013266383H → R in CMH6; severe; impaired AMP- and ATP-binding. 2 PublicationsCorresponds to variant dbSNP:rs121908988EnsemblClinVar.1
Natural variantiVAR_013267400T → N in CMH6; severe; impaired AMP- and ATP-binding. 2 PublicationsCorresponds to variant dbSNP:rs28938173EnsemblClinVar.1
Natural variantiVAR_013268488N → I in CMH6; severe. 1 PublicationCorresponds to variant dbSNP:rs121908989EnsemblClinVar.1
Natural variantiVAR_032909531R → G in WPWS; absence of cardiac hypertrophy; onset in childhood; impaired AMP- and ATP-binding. 2 PublicationsCorresponds to variant dbSNP:rs121908990EnsemblClinVar.1
Natural variantiVAR_013269531R → Q in GSDH; reduction of binding affinities for AMP and ATP; loss of cooperative binding; enhanced basal activity; increased phosphorylation of the alpha-subunit. 1 PublicationCorresponds to variant dbSNP:rs121908991EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0002611 – 241Missing in isoform B. 5 PublicationsAdd BLAST241
Alternative sequenceiVSP_0155891 – 44Missing in isoform C. 1 PublicationAdd BLAST44

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB025580 mRNA Translation: BAA84695.1 Frameshift.
AJ249976 mRNA Translation: CAB65116.1
AF087875 mRNA Translation: AAK00413.1
AK001887 mRNA Translation: BAA91962.1
BT007127 mRNA Translation: AAP35791.1
AC006358 Genomic DNA Translation: AAS02032.1 Sequence problems.
AC006966 Genomic DNA Translation: AAF03528.2
AC093583 Genomic DNA No translation available.
BC020540 mRNA Translation: AAH20540.2 Different initiation.
BC068598 mRNA Translation: AAH68598.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43683.1 [Q9UGJ0-3]
CCDS47752.1 [Q9UGJ0-2]
CCDS5928.1 [Q9UGJ0-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001035723.1, NM_001040633.1 [Q9UGJ0-3]
NP_001291456.1, NM_001304527.1
NP_001291460.1, NM_001304531.1 [Q9UGJ0-2]
NP_057287.2, NM_016203.3 [Q9UGJ0-1]
NP_077747.1, NM_024429.1 [Q9UGJ0-2]
XP_016867759.1, XM_017012270.1 [Q9UGJ0-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000287878; ENSP00000287878; ENSG00000106617 [Q9UGJ0-1]
ENST00000392801; ENSP00000376549; ENSG00000106617 [Q9UGJ0-3]
ENST00000418337; ENSP00000387386; ENSG00000106617 [Q9UGJ0-2]
ENST00000476632; ENSP00000419493; ENSG00000106617 [Q9UGJ0-2]
ENST00000651378; ENSP00000499103; ENSG00000106617 [Q9UGJ0-2]
ENST00000651764; ENSP00000498796; ENSG00000106617 [Q9UGJ0-3]
ENST00000652159; ENSP00000499025; ENSG00000106617 [Q9UGJ0-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
51422

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:51422

UCSC genome browser

More...
UCSCi
uc003wki.4 human [Q9UGJ0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB025580 mRNA Translation: BAA84695.1 Frameshift.
AJ249976 mRNA Translation: CAB65116.1
AF087875 mRNA Translation: AAK00413.1
AK001887 mRNA Translation: BAA91962.1
BT007127 mRNA Translation: AAP35791.1
AC006358 Genomic DNA Translation: AAS02032.1 Sequence problems.
AC006966 Genomic DNA Translation: AAF03528.2
AC093583 Genomic DNA No translation available.
BC020540 mRNA Translation: AAH20540.2 Different initiation.
BC068598 mRNA Translation: AAH68598.1
CCDSiCCDS43683.1 [Q9UGJ0-3]
CCDS47752.1 [Q9UGJ0-2]
CCDS5928.1 [Q9UGJ0-1]
RefSeqiNP_001035723.1, NM_001040633.1 [Q9UGJ0-3]
NP_001291456.1, NM_001304527.1
NP_001291460.1, NM_001304531.1 [Q9UGJ0-2]
NP_057287.2, NM_016203.3 [Q9UGJ0-1]
NP_077747.1, NM_024429.1 [Q9UGJ0-2]
XP_016867759.1, XM_017012270.1 [Q9UGJ0-3]

3D structure databases

SMRiQ9UGJ0
ModBaseiSearch...

Protein-protein interaction databases

BioGridi119531, 29 interactors
IntActiQ9UGJ0, 24 interactors
STRINGi9606.ENSP00000287878

Chemistry databases

ChEMBLiCHEMBL2453
DrugBankiDB00945 Acetylsalicylic acid
DB12010 Fostamatinib

PTM databases

iPTMnetiQ9UGJ0
PhosphoSitePlusiQ9UGJ0

Polymorphism and mutation databases

BioMutaiPRKAG2
DMDMi14285344

Proteomic databases

EPDiQ9UGJ0
jPOSTiQ9UGJ0
MassIVEiQ9UGJ0
PaxDbiQ9UGJ0
PeptideAtlasiQ9UGJ0
PRIDEiQ9UGJ0
ProteomicsDBi84222 [Q9UGJ0-1]
84223 [Q9UGJ0-2]
84224 [Q9UGJ0-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
51422

Genome annotation databases

EnsembliENST00000287878; ENSP00000287878; ENSG00000106617 [Q9UGJ0-1]
ENST00000392801; ENSP00000376549; ENSG00000106617 [Q9UGJ0-3]
ENST00000418337; ENSP00000387386; ENSG00000106617 [Q9UGJ0-2]
ENST00000476632; ENSP00000419493; ENSG00000106617 [Q9UGJ0-2]
ENST00000651378; ENSP00000499103; ENSG00000106617 [Q9UGJ0-2]
ENST00000651764; ENSP00000498796; ENSG00000106617 [Q9UGJ0-3]
ENST00000652159; ENSP00000499025; ENSG00000106617 [Q9UGJ0-3]
GeneIDi51422
KEGGihsa:51422
UCSCiuc003wki.4 human [Q9UGJ0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
51422
DisGeNETi51422

GeneCards: human genes, protein and diseases

More...
GeneCardsi
PRKAG2
GeneReviewsiPRKAG2
HGNCiHGNC:9386 PRKAG2
HPAiCAB018641
HPA004246
MalaCardsiPRKAG2
MIMi194200 phenotype
261740 phenotype
600858 phenotype
602743 gene
neXtProtiNX_Q9UGJ0
OpenTargetsiENSG00000106617
Orphaneti439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy
907 NON RARE IN EUROPE: Wolff-Parkinson-White syndrome
PharmGKBiPA33752

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1764 Eukaryota
COG0517 LUCA
GeneTreeiENSGT00950000183019
KOiK07200
OMAiYYCQFPD
OrthoDBi614199at2759
PhylomeDBiQ9UGJ0
TreeFamiTF313247

Enzyme and pathway databases

ReactomeiR-HSA-1445148 Translocation of SLC2A4 (GLUT4) to the plasma membrane
R-HSA-1632852 Macroautophagy
R-HSA-163680 AMPK inhibits chREBP transcriptional activation activity
R-HSA-200425 Import of palmitoyl-CoA into the mitochondrial matrix
R-HSA-2151209 Activation of PPARGC1A (PGC-1alpha) by phosphorylation
R-HSA-380972 Energy dependent regulation of mTOR by LKB1-AMPK
R-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-9613354 Lipophagy
R-HSA-9619483 Activation of AMPK downstream of NMDARs
SignaLinkiQ9UGJ0
SIGNORiQ9UGJ0

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
PRKAG2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
PRKAG2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
51422
PharosiQ9UGJ0

Protein Ontology

More...
PROi
PR:Q9UGJ0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000106617 Expressed in 207 organ(s), highest expression level in right atrium auricular region
ExpressionAtlasiQ9UGJ0 baseline and differential
GenevisibleiQ9UGJ0 HS

Family and domain databases

InterProiView protein in InterPro
IPR039170 AMPKG-2
IPR000644 CBS_dom
PANTHERiPTHR13780:SF122 PTHR13780:SF122, 1 hit
PfamiView protein in Pfam
PF00571 CBS, 3 hits
SMARTiView protein in SMART
SM00116 CBS, 4 hits
PROSITEiView protein in PROSITE
PS51371 CBS, 4 hits

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAAKG2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UGJ0
Secondary accession number(s): Q53Y07
, Q6NUI0, Q75MP4, Q9NUZ9, Q9UDN8, Q9ULX8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 1, 2001
Last sequence update: May 1, 2000
Last modified: October 16, 2019
This is version 176 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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