Gene Gene information from NCBI Gene database.
Entrez ID 5571
Gene name Protein kinase AMP-activated non-catalytic subunit gamma 1
Gene symbol PRKAG1
Synonyms (NCBI Gene)
AMPKG
Chromosome 12
Chromosome location 12q13.12
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
miRNA miRNA information provided by mirtarbase database.
194
miRTarBase ID miRNA Experiments Reference
MIRT022607 hsa-miR-124-3p Microarray 18668037
MIRT023779 hsa-miR-1-3p Proteomics 18668040
MIRT045971 hsa-miR-125b-5p CLASH 23622248
MIRT037198 hsa-miR-877-3p CLASH 23622248
MIRT637068 hsa-miR-6768-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004679 Function AMP-activated protein kinase activity IEA
GO:0004691 Function CAMP-dependent protein kinase activity TAS
GO:0005515 Function Protein binding IPI 16306228, 17028174, 18403135, 18480843, 20562859, 21988832, 22363791, 23455922, 24722188, 25416956, 25852190, 28514442, 28561066, 31515488, 32296183, 32707033, 32814053, 33961781, 35271311
GO:0005524 Function ATP binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602742 9385 ENSG00000181929
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54619
Protein name 5'-AMP-activated protein kinase subunit gamma-1 (AMPK gamma1) (AMPK subunit gamma-1) (AMPKg)
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:21680840, PubMed:24563466). In response to reduction of intracellular ATP leve
PDB 2UV4 , 2UV5 , 2UV6 , 2UV7 , 4CFE , 4CFF , 4RER , 4REW , 4ZHX , 5EZV , 5ISO , 6B1U , 6B2E , 6C9F , 6C9G , 6C9H , 6C9J , 7JHG , 7JHH , 7JIJ , 7M74 , 7MYJ , 8BIK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00571 CBS 120 178 CBS domain Domain
PF00571 CBS 185 252 CBS domain Domain
PF00571 CBS 269 324 CBS domain Domain
Sequence
METVISSDSSPAVENEHPQETPESNNSVYTSFMKSHRCYDLIPTSSKLVVFDTSLQVKKA
FFALVTNGVRAAPLWDSKKQSFVGMLTITDFINILHRYYKSALVQIYELEEHKIETWREV
YLQDSFKPLVCISPNASLFDAVSSLIRNKIHRLPVIDPESGNTLYILTHKRILKFLKL
FI
TEFPKPEFMSKSLEELQIGTYANIAMVRTTTPVYVALGIFVQHRVSALPVVDEKGRVVDI
YSKFDVINLAAE
KTYNNLDVSVTKALQHRSHYFEGVLKCYLHETLETIINRLVEAEVHRL
VVVDENDVVKGIVSLSDILQALVL
TGGEKKP
Sequence length 331
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Neoplasms Neoplasms BEFREE 30856283
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 22897928 Associate
★☆☆☆☆
Found in Text Mining only