PRKAG3 (protein kinase AMP-activated non-catalytic subunit gamma 3)

Gene

• Entrez ID: 53632
• Gene name: Protein kinase AMP-activated non-catalytic subunit gamma 3
• Gene symbol: PRKAG3
• Synonyms (NCBI Gene): AMPKG3, SMGMQTL
• Chromosome: 2
• Chromosome location: 2q35
• Summary: 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 tha

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138130157	G>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1262452	hsa-miR-103a	CLIP-seq
MIRT1262453	hsa-miR-107	CLIP-seq
MIRT1262454	hsa-miR-1184	CLIP-seq
MIRT1262455	hsa-miR-4310	CLIP-seq
MIRT1262456	hsa-miR-4418	CLIP-seq
MIRT1262457	hsa-miR-4452	CLIP-seq
MIRT1262458	hsa-miR-4658	CLIP-seq
MIRT1262459	hsa-miR-4732-3p	CLIP-seq
MIRT1262460	hsa-miR-4758-5p	CLIP-seq
MIRT1262461	hsa-miR-4765	CLIP-seq
MIRT1262462	hsa-miR-509-3-5p	CLIP-seq
MIRT1262463	hsa-miR-509-5p	CLIP-seq
MIRT1262464	hsa-miR-554	CLIP-seq
MIRT1262452	hsa-miR-103a	CLIP-seq
MIRT1262453	hsa-miR-107	CLIP-seq
MIRT2303868	hsa-miR-1178	CLIP-seq
MIRT2303869	hsa-miR-203	CLIP-seq
MIRT2303870	hsa-miR-214	CLIP-seq
MIRT2303871	hsa-miR-302f	CLIP-seq
MIRT2303872	hsa-miR-3619-5p	CLIP-seq
MIRT2303873	hsa-miR-4291	CLIP-seq
MIRT1262455	hsa-miR-4310	CLIP-seq
MIRT2303874	hsa-miR-761	CLIP-seq
MIRT2303875	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004679	Function	AMP-activated protein kinase activity	IEA
GO:0004679	Function	AMP-activated protein kinase activity	TAS	10698692
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 32707033, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006110	Process	Regulation of glycolytic process	IBA
GO:0006110	Process	Regulation of glycolytic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0014873	Process	Response to muscle activity involved in regulation of muscle adaptation	IEA
GO:0016208	Function	AMP binding	IBA
GO:0016208	Function	AMP binding	TAS
GO:0019887	Function	Protein kinase regulator activity	IBA
GO:0019887	Function	Protein kinase regulator activity	IDA	24563466
GO:0019887	Function	Protein kinase regulator activity	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IDA	10698692
GO:0019901	Function	Protein kinase binding	IEA
GO:0031588	Component	Nucleotide-activated protein kinase complex	IBA
GO:0031588	Component	Nucleotide-activated protein kinase complex	IEA
GO:0031588	Component	Nucleotide-activated protein kinase complex	IPI	25412657
GO:0031588	Component	Nucleotide-activated protein kinase complex	ISS
GO:0031669	Process	Cellular response to nutrient levels	IDA	25412657
GO:0035556	Process	Intracellular signal transduction	TAS	10698692
GO:0042149	Process	Cellular response to glucose starvation	IBA
GO:0043609	Process	Regulation of carbon utilization	IBA
GO:0045719	Process	Negative regulation of glycogen biosynthetic process	IEA
GO:0045722	Process	Positive regulation of gluconeogenesis	IBA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	TAS

Other IDs

• MIM: 604976
• HGNC: 9387
• e!Ensembl: ENSG00000115592

Protein

• UniProt ID: Q9UGI9
• Protein name: 5'-AMP-activated protein kinase subunit gamma-3 (AMPK gamma3) (AMPK subunit gamma-3)
• Protein function: 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 (PubMed:14722619, PubMed:17878938, PubMed:24563466). In response to reduction of intra
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00571	CBS	273 → 333	CBS domain	Domain
  PF00571	CBS	352 → 406	CBS domain	Domain
  PF00571	CBS	417 → 479	CBS domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Skeletal muscle, with weak expression in heart and pancreas.
• Sequence:

  MEPGLEHALRRTPSWSSLGGSEHQEMSFLEQENSSSWPSPAVTSSSERIRGKRRAKALRW
  TRQKSVEEGEPPGQGEGPRSRPAAESTGLEATFPKTTPLAQADPAGVGTPPTGWDCLPSD
  CTASAAGSSTDDVELATEFPATEAWECELEGLLEERPALCLSPQAPFPKLGWDDELRKPG
  AQIYMRFMQEHTCYDAMATSSKLVIFDTMLEIKKAFFALVANGVRAAPLWDSKKQSFVGM
  LTITDFILVLHRYYRSPLVQIYEIEQHKIETWREIYLQGCFKPLVSISPNDSLFEAVYTL
  IKNRIHRLPVLDPVSGNVLHILTHKRLLKFLHIFGSLLPRPSFLYRTIQDLGIGTFRDLA
  VVLETAPILTALDIFVDRRVSALPVVNECGQVVGLYSRFDVIHLAAQQTYNHLDMSVGEA
  LRQRTLCLEGVLSCQPHESLGEVIDRIAREQVHRLVLVDETQHLLGVVSLSDILQALVLS
  PAGIDALGA

• Sequence length: 489

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Increased muscle glycogen content	Uncertain significance	rs551272603, rs864622005, rs367916025, rs370008874, rs776263291, rs776255177, rs372752820, rs864622004, rs371222838, rs864622003	RCV000206902 RCV000206979 RCV000206928 RCV000207016 RCV000206983 RCV000206933 RCV000207003 RCV000206969 RCV000206914 RCV000207002
PRKAG3-related disorder	Likely benign; Benign	rs747168458, rs73082940, rs35050588, rs368388605, rs150179249, rs370486325, rs34720726, rs149508864	RCV003946590 RCV003929729 RCV003916836 RCV003959749 RCV003924373 RCV003939384 RCV003932224 RCV003971643
SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS	association	rs138130157	RCV000005602

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	28582508
Diabetes Mellitus Type 2	Associate	34589546
Lymphoma Large B Cell Diffuse	Associate	23396962
Lymphoma Non Hodgkin	Associate	23396962
Obesity	Associate	17878938
Triple Negative Breast Neoplasms	Associate	22140552, 28582508
Wolff Parkinson White Syndrome	Associate	17878938, 27866917