PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRKAG3provided by HGNC
Official Full Name: protein kinase AMP-activated non-catalytic subunit gamma 3provided by HGNC
Primary source: HGNC:HGNC:9387
See related: Ensembl:ENSG00000115592 MIM:604976; AllianceGenome:HGNC:9387
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AMPKG3; SMGMQTL
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 that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit is one of the gamma regulatory subunits of AMPK. It is dominantly expressed in skeletal muscle. Studies of the pig counterpart suggest that this subunit may play a key role in the regulation of energy metabolism in skeletal muscle. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 2q35

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (218822308..218831803, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (219308866..219318363, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (219687031..219696526, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The human AMPKgamma3 R225W mutation negatively impacts site-1 nucleotide binding and does not enhance basal AMPKgamma3-associated activity nor glycogen production in human or mouse skeletal muscle.
Title: The human AMPKγ3 R225W mutation negatively impacts site-1 nucleotide binding and does not enhance basal AMPKγ3-associated activity nor glycogen production in human or mouse skeletal muscle.
AMPKgamma3 Controls Muscle Glucose Uptake in Recovery From Exercise to Recapture Energy Stores.
Title: AMPKγ3 Controls Muscle Glucose Uptake in Recovery From Exercise to Recapture Energy Stores.
PRKAG3-230 may be associated with sporadic Wolff-Parkinson-White (WPW) syndrome in a Taiwanese population.
Title: PRKAG3 polymorphisms associated with sporadic Wolff-Parkinson-White syndrome among a Taiwanese population.
The mTOR pathway was significantly associated with overall and estrogen receptor-negative (ER-) breast cancer risk (P = 0.003 and 0.03, respectively). PRKAG3 (Padj = 0.0018) and RPS6KA3 (Padj = 0.061) were the leading genes for the associations with overall breast cancer risk and ER- breast cancer risk, respectively.
Title: Association of breast cancer risk and the mTOR pathway in women of African ancestry in 'The Root' Consortium.
Data suggest different gamma-isoforms in AMPK can have different effects on enzyme activation; here, activation of AMPK by compound 991 is greater if AMPK contains PRKAG2 versus PRKAG1 or PRKAG3.
Title: Effect of different γ-subunit isoforms on the regulation of AMPK.
Low PRKAA2 expression is associated with follicular lymphoma.
Title: Association of AMP-activated protein kinase with risk and progression of non-Hodgkin lymphoma.
Through the enhancement of skeletal muscle glucose uptake and increased mitochondrial content, the R225W mutation of the gene encoding AMP-activated protein kinase (AMPK)gamma(3)may significantly enhance exercise performance.
Title: Naturally occurring R225W mutation of the gene encoding AMP-activated protein kinase (AMPK)gamma(3) results in increased oxidative capacity and glucose uptake in human primary myotubes.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.
Purification and characterization of truncated human AMPK alpha 2 beta 2 gamma 3 heterotrimer from baculovirus-infected insect cells
Title: Purification and characterization of truncated human AMPK alpha 2 beta 2 gamma 3 heterotrimer from baculovirus-infected insect cells.
Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
Title: Integrative predictive model of coronary artery calcification in atherosclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS MedGen: C5436642 OMIM: 619030 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Knockdown of SIRT1 by its inhibitor or siRNA results in Tat-mediated reduction of phosphorylation of AMP-activated protein kinase (AMPK) and downstream acetyl-CoA carboxylase (ACC)	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G67375 (e-PCR)
- UniSTS:186393

SHGC-52801 (e-PCR)
- UniSTS:16455

NoName (e-PCR)
- UniSTS:483998

NoName (e-PCR)
- UniSTS:480683

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables AMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables AMP-activated protein kinase activity	IEA Inferred from Electronic Annotation more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase regulator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to glucose starvation	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to nutrient levels	IDA Inferred from Direct Assay more info	PubMed
involved_in fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in intracellular signal transduction	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of glycogen biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gluconeogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of carbon utilization	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of glycolytic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to muscle activity involved in regulation of muscle adaptation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of nucleotide-activated protein kinase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of nucleotide-activated protein kinase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of nucleotide-activated protein kinase complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: 5'-AMP-activated protein kinase subunit gamma-3

Names: 5'-AMP-activated protein kinase, gamma-3 subunit; AMPK gamma-3 chain; AMPK gamma3; AMPK subunit gamma-3; protein kinase, AMP-activated, gamma 3 non-catalytic subunit

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016458.1 RefSeqGene

Range

4987..14409

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_017431.4 → NP_059127.2 5'-AMP-activated protein kinase subunit gamma-3

See identical proteins and their annotated locations for NP_059127.2

Status: VALIDATED

Source sequence(s)

AC009974

Consensus CDS

CCDS2424.1

UniProtKB/Swiss-Prot

Q4QQG8, Q4V779, Q9NRL1, Q9UGI9

Related

ENSP00000397133.3, ENST00000439262.7

Conserved Domains (2) summary

cd04618
Location:201 → 330

CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...

cd04641
Location:357 → 476

CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...