PRKAR1B Gene

Name	protein kinase, cAMP-dependent, regulatory, type I, beta
Description	The protein encoded by this gene is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands after cAMP binding. The holoenzyme is involved in many cellular events, including ion transport, metabolism, and transcription. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2015]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nCyclic AMP‐dependent protein kinase (PKA) signaling is tightly regulated by its regulatory subunits, including the R1β subunit encoded by PRKAR1B. In one study investigating the transcription factor Arix/Phox2a, activation of the PKA pathway was shown to trigger dephosphorylation events that enhance the transcription of dopamine β‐hydroxylase, highlighting how dynamic post‐translational modifications of PKA components may modulate gene expression in response to cellular signals."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the biochemical level, detailed analyses using yeast two‐hybrid assays and native PAGE have demonstrated that the PKA regulatory subunits, including RIβ from PRKAR1B, dimerize via an N‐terminal motif. These dimer formations are crucial for proper binding to A‐kinase anchoring proteins (AKAPs), which in turn ensure the correct subcellular targeting of the PKA holoenzyme."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nGenetic investigations have revealed that mutations in PRKAR1B can lead to neurodegenerative phenotypes. In one familial study, a heterozygous p.Leu50Arg missense mutation in PRKAR1B was linked to a novel late‐onset neurodegenerative disorder characterized by dementia, parkinsonism, and pathological accumulation of intermediate filaments in neurons—findings that suggest impaired binding to both the catalytic subunit of PKA and its anchoring proteins, ultimately resulting in aberrant hyperphosphorylation of cytoskeletal components."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nConversely, broad genetic screenings in cohorts of early‐onset Alzheimer’s disease and frontotemporal dementia patients did not uncover additional pathogenic mutations in PRKAR1B"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", nor were mutations identified in bilateral adrenocortical hyperplasia and cortisol‐producing adenomas."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " These findings indicate that pathogenic alterations of PRKAR1B may be confined to specific neurodegenerative conditions rather than representing a common mechanism in sporadic forms of dementia or endocrine tumors.\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn the realm of neurodevelopment, heterozygous missense variants in PRKAR1B have been associated with intellectual disability and autism spectrum disorder, further implicating defective cAMP/PKA signaling in the etiology of these neuropsychiatric conditions."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its roles in neurological disorders, emerging evidence has uncovered an oncogenic facet of this gene. A cancer-specific circular RNA originating from the PRKAR1B transcript—circPRKAR1B—has been shown to promote osteosarcoma progression by acting as a sponge for miR-361-3p, thereby modulating the expression of downstream effectors in the Wnt pathway. This mechanism contributes to enhanced tumor cell proliferation, migration, epithelial-mesenchymal transition, and chemoresistance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Megumi Adachi, Elaine J Lewis "}, {"type": "b", "children": [{"type": "t", "text": "The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M201695200"}], "href": "https://doi.org/10.1074/jbc.M201695200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11943777"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11943777"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Cathrine R Carlson, Anja Ruppelt, Kjetil Taskén "}, {"type": "b", "children": [{"type": "t", "text": "A kinase anchoring protein (AKAP) interaction and dimerization of the RIalpha and RIbeta regulatory subunits of protein kinase a in vivo by the yeast two hybrid system."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Biol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0022-2836(03)00093-7"}], "href": "https://doi.org/10.1016/s0022-2836(03"}, {"type": "t", "text": "00093-7) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12634056"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12634056"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Tsz Hang Wong, Wang Zheng Chiu, Guido J Breedveld, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Brain (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/brain/awu067"}], "href": "https://doi.org/10.1093/brain/awu067"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24722252"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24722252"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "P E Cohn-Hokke, T H Wong, P Rizzu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00415-014-7456-y"}], "href": "https://doi.org/10.1007/s00415-014-7456-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25108559"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25108559"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ludivine Drougat, Nikolaos Settas, Cristina L Ronchi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41436-020-00958-1"}], "href": "https://doi.org/10.1038/s41436-020-00958-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32895490"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32895490"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Felix Marbach, Georgi Stoyanov, Florian Erger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Med (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41436-021-01152-7"}], "href": "https://doi.org/10.1038/s41436-021-01152-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33833410"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33833410"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Zhen-Hua Feng, Lin Zheng, Teng Yao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "EIF4A3-induced circular RNA PRKAR1B promotes osteosarcoma progression by miR-361-3p-mediated induction of FZD4 expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Death Dis (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41419-021-04339-7"}], "href": "https://doi.org/10.1038/s41419-021-04339-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34716310"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34716310"}]}]}]}
Synonyms	PRKAR1
Proteins	KAP1_HUMAN
NCBI Gene ID	5575
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PRKAR1B has 6,282 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 116 datasets.

Click the + buttons to view associations for PRKAR1B from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PRKAR1B Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PRKAR1B gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of PRKAR1B gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PRKAR1B gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PRKAR1B gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving PRKAR1B protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PRKAR1B gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PRKAR1B gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PRKAR1B gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PRKAR1B gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PRKAR1B gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with PRKAR1B gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with PRKAR1B protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PRKAR1B gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PRKAR1B gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PRKAR1B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PRKAR1B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PRKAR1B gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PRKAR1B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PRKAR1B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PRKAR1B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PRKAR1B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PRKAR1B gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PRKAR1B gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PRKAR1B gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PRKAR1B gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PRKAR1B gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PRKAR1B gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PRKAR1B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PRKAR1B gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with PRKAR1B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PRKAR1B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at PRKAR1B gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PRKAR1B gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of PRKAR1B gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing PRKAR1B from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD High Level Gene-Disease Associations	diseases associated with PRKAR1B gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with PRKAR1B gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing PRKAR1B from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of PRKAR1B gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
	GEO Signatures of Differentially Expressed Genes for Gene Perturbations	gene perturbations changing expression of PRKAR1B gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.