PRKAG1 protein kinase AMP-activated non-catalytic subunit gamma 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRKAG1provided by HGNC
Official Full Name: protein kinase AMP-activated non-catalytic subunit gamma 1provided by HGNC
Primary source: HGNC:HGNC:9385
See related: Ensembl:ENSG00000181929 MIM:602742; AllianceGenome:HGNC:9385
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AMPKG
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. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in heart (RPKM 18.1), adrenal (RPKM 16.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.12

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (49002274..49018776, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (48964449..48980948, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (49396057..49412559, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNA-dependent protein kinase regulates lysosomal AMP-dependent protein kinase activation and autophagy.
Title: DNA-dependent protein kinase regulates lysosomal AMP-dependent protein kinase activation and autophagy.
AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy.
Title: AMPK Complex Activation Promotes Sarcolemmal Repair in Dysferlinopathy.
The importance of the AMPK gamma 1 subunit in metformin suppression of liver glucose production.
Title: The importance of the AMPK gamma 1 subunit in metformin suppression of liver glucose production.
AMPK activity in response to redox changes is not due to direct action on AMPK itself, but is a secondary consequence of redox effects on other processes, such as mitochondrial ATP production.
Title: Mitochondria-derived ROS activate AMP-activated protein kinase (AMPK) indirectly.
AMP-activated protein kinase can be modulated by diverse ligands and by phosphorylation.
Title: Conformational heterogeneity of the allosteric drug and metabolite (ADaM) site in AMP-activated protein kinase (AMPK).
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.
A subunit composition of AMPK (alpha2beta2gamma1) is preferred for colorectal cancer cell survival, at least in part, by stabilizing the tumor-specific expression of PGC1B.
Title: AMPK Promotes Aberrant PGC1β Expression To Support Human Colon Tumor Cell Survival.
Pin1 plays an important role in the pathogenic mechanisms underlying impaired glucose and lipid metabolism, functioning as a negative regulator of AMPK
Title: Prolyl isomerase Pin1 negatively regulates AMP-activated protein kinase (AMPK) by associating with the CBS domain in the γ subunit.
Letter: report PRKAG1 frameshift mutations in colorectal cancer.
Title: Frameshift mutations of PRKAG1 gene encoding an AMPK gamma subunit in colorectal cancers.
Electrogenic phosphate transport in sodium/phosphate cotransporter NaPi-IIa-expressing Xenopus oocytes is markedly decreased by the coexpression of constitutively active AMPKgammaR70Q, but not of AMPK(alphaK45R).
Title: Down-regulation of the Na+-coupled phosphate transporter NaPi-IIa by AMP-activated protein kinase.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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

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
	tat	HIV-1 Tat induces IL-6 and TNF-alpha expression through the activation of cAMP-dependent protein kinase pathways	PubMed
Vif	vif	Protein kinase A (PKA) binds and phosphorylates A3G at Thr32 in vitro and in vivo. This phosphorylation event reduces the binding of A3G to Vif and its subsequent ubiquitination and degradation	PubMed
Vpr	vpr	HIV-1 Vpr directly interacts with PKA and is phosphorylated at position Ser79 by PKA. PKA activity is necessary for virion-delivered Vpr cell cycle arrest	PubMed
matrix	gag	HIV-1 MA increases phosphorylation and the DNA-binding activity of CREB and c-Myc through activation of the cAMP/PKA and MEK/ERK signaling pathways. Both signaling pathways are synergistically activated upon co-stimulation through the CD19 receptor	PubMed
	gag	Protein kinase A (PKA) has been shown to phosphorylate HIV-1 Matrix in vitro	PubMed
	gag	HIV-1 Matrix impairs proliferation of normal lymphocytes in vitro by inducing the activity of the inhibitory protein kinase A (PKA)	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

WI-19311 (e-PCR)
- UniSTS:3000

SHGC-33837 (e-PCR)
- UniSTS:78289

RH11260 (e-PCR)
- UniSTS:79868

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ADP binding	ISS Inferred from Sequence or Structural Similarity more info
enables AMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables AMP binding	ISS Inferred from Sequence or Structural Similarity more info
enables ATP binding	ISS Inferred from Sequence or Structural Similarity more info
enables cAMP-dependent protein kinase activity	TAS Traceable Author Statement more info
enables cAMP-dependent protein kinase regulator activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IDA Inferred from Direct Assay 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
enables protein kinase regulator activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in cellular response to nutrient levels	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to nutrient levels	NAS Non-traceable Author Statement more info	PubMed
involved_in fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in import into nucleus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein kinase activity	TAS Traceable Author Statement more info	PubMed
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of catalytic activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of glycolytic process	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info
involved_in spermatogenesis	TAS Traceable Author Statement 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 membrane	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
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: 5'-AMP-activated protein kinase subunit gamma-1

Names: 5'-AMP-activated protein kinase, gamma-1 subunit; AMPK gamma-1 chain; AMPK gamma1; protein kinase, AMP-activated, gamma 1 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.

mRNA and Protein(s)

NM_001206709.2 → NP_001193638.1 5'-AMP-activated protein kinase subunit gamma-1 isoform 3

See identical proteins and their annotated locations for NP_001193638.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (3) that is longer than isoform 1.

Source sequence(s)

AK097606, BC000358, BM667691

Consensus CDS

CCDS55825.1

UniProtKB/Swiss-Prot

P54619

Related

ENSP00000323867.5, ENST00000316299.9

Conserved Domains (3) summary

COG0517
Location:212 → 328

CBS; CBS domain [Signal transduction mechanisms]

cd04618
Location:46 → 184

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:211 → 330

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 ...
NM_001206710.2 → NP_001193639.1 5'-AMP-activated protein kinase subunit gamma-1 isoform 4

See identical proteins and their annotated locations for NP_001193639.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC011603, AK293332, BC000358, BM667691

Consensus CDS

CCDS55824.1

UniProtKB/Swiss-Prot

P54619

Related

ENSP00000448972.1, ENST00000552212.5

Conserved Domains (2) summary

cd04618
Location:6 → 142

CBS_euAMPK_gamma-like_repeat1; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains found in AMP-activated protein kinase gamma-like proteins, repeat 1

cd04641
Location:168 → 291

CBS_euAMPK_gamma-like_repeat2; CBS pair domain found in 5'-AMP (adenosine monophosphate)-activated protein kinase
NM_002733.5 → NP_002724.1 5'-AMP-activated protein kinase subunit gamma-1 isoform 1

See identical proteins and their annotated locations for NP_002724.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

BC000358, BM667691, DB020277

Consensus CDS

CCDS8777.1

UniProtKB/Swiss-Prot

B4DDT7, P54619, Q8N7V9

Related

ENSP00000447433.1, ENST00000548065.7

Conserved Domains (2) summary

cd04618
Location:38 → 174

CBS_euAMPK_gamma-like_repeat1; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains found in AMP-activated protein kinase gamma-like proteins, repeat 1

cd04641
Location:200 → 323

CBS_euAMPK_gamma-like_repeat2; CBS pair domain found in 5'-AMP (adenosine monophosphate)-activated protein kinase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

49002274..49018776 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011538562.3 → XP_011536864.1 5'-AMP-activated protein kinase subunit gamma-1 isoform X1

See identical proteins and their annotated locations for XP_011536864.1

UniProtKB/Swiss-Prot

P54619

Conserved Domains (2) summary

cd04618
Location:6 → 142

CBS_euAMPK_gamma-like_repeat1; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains found in AMP-activated protein kinase gamma-like proteins, repeat 1

cd04641
Location:168 → 291

CBS_euAMPK_gamma-like_repeat2; CBS pair domain found in 5'-AMP (adenosine monophosphate)-activated protein kinase
XM_047429136.1 → XP_047285092.1 5'-AMP-activated protein kinase subunit gamma-1 isoform X2

UniProtKB/TrEMBL

F8VYY9

Related

ENSP00000448873.1, ENST00000547306.5
XM_005269020.3 → XP_005269077.1 5'-AMP-activated protein kinase subunit gamma-1 isoform X3

Conserved Domains (3) summary

cd02205
Location:46 → 90

CBS_pair_SF; CBS repeat [structural motif]

cd04641
Location:116 → 239

CBS_euAMPK_gamma-like_repeat2; CBS pair domain found in 5'-AMP (adenosine monophosphate)-activated protein kinase

cl15354
Location:1 → 90

CBS_pair_SF; Two tandem repeats of the cystathionine beta-synthase (CBS pair) domains superfamily

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

48964449..48980948 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054372526.1 → XP_054228501.1 5'-AMP-activated protein kinase subunit gamma-1 isoform X1
XM_054372527.1 → XP_054228502.1 5'-AMP-activated protein kinase subunit gamma-1 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_212461.1: Suppressed sequence

Description

NM_212461.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.