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PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta [ Homo sapiens (human) ]

Gene ID: 5575, updated on 17-May-2023

Summary

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Official Symbol
PRKAR1Bprovided by HGNC
Official Full Name
protein kinase cAMP-dependent type I regulatory subunit betaprovided by HGNC
Primary source
HGNC:HGNC:9390
See related
Ensembl:ENSG00000188191 MIM:176911; AllianceGenome:HGNC:9390
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
MASNS; PRKAR1
Summary
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]
Expression
Biased expression in brain (RPKM 53.5), ovary (RPKM 6.9) and 11 other tissues See more
Orthologs
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Genomic context

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See PRKAR1B in Genome Data Viewer
Location:
7p22.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (549197..728934, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (650161..832029, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (588834..767313, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:578299-579242 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:579243-580184 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:592082-592582 Neighboring gene PRKAR1B antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:611753-612521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:612522-613291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:643285-643970 Neighboring gene PRKAR1B antisense RNA 1 Neighboring gene uncharacterized LOC105375119 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:653082-653582 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:653583-654083 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:690976-692175 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:736050-736550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:736551-737051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:770503-771002 Neighboring gene dynein axonemal assembly factor 5 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:791462-792661

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. EIF4A3-induced circular RNA PRKAR1B promotes osteosarcoma progression by miR-361-3p-mediated induction of FZD4 expression. Feng ZH, et al. Cell Death Dis, 2021 Oct 29. PMID 34716310, Free PMC Article
  2. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Marbach F, et al. Genet Med, 2021 Aug. PMID 33833410, Free PMC Article
  3. Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome. Drougat L, et al. Genet Med, 2021 Jan. PMID 32895490, Free PMC Article
  4. Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort. Cohn-Hokke PE, et al. J Neurol, 2014 Nov. PMID 25108559
  5. PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology. Wong TH, et al. Brain, 2014 May. PMID 24722252

See all (66) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EIF4A3-induced circular RNA PRKAR1B promotes osteosarcoma progression by miR-361-3p-mediated induction of FZD4 expression.
    Title: EIF4A3-induced circular RNA PRKAR1B promotes osteosarcoma progression by miR-361-3p-mediated induction of FZD4 expression.
  2. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
    Title: Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
  3. Genomic and sequence variants of protein kinase A regulatory subunit type 1beta (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.
    Title: Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome.
  4. No pathogenic PRKAR1B mutations were found in early onset familial dementia patients in a Dutch cohort.
    Title: Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort.
  5. This study demonistrated that PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
    Title: PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.
  6. Observational study of gene-disease association. (HuGE Navigator)
    Title: Dengue hemorrhagic fever is associated with polymorphisms in JAK1.
  7. Observational study and genome-wide association study of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Biological pathway-based genome-wide association analysis identified the vasoactive intestinal peptide (VIP) pathway important for obesity.
  8. The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status
    Title: The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status.
  9. RIalpha and RIbeta homodimers as well as an RIalpha:RIbeta heterodimer and several of the mutants were able to bind to the R-binding domain of AKAP149/D-AKAP1
    Title: 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.
Submit: New GeneRIF Correction

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
Marbach-Schaaf neurodevelopmental syndrome
MedGen: C5562050 OMIM: 619680 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)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Nef nef Serine residues Ser6 and Ser9 of HIV-1 Nef are phosphorylated by PKA in a cell-free system; intracellularly, only Ser9 of HIV-1 NL4-3 Nef is phosphorylated by PKA in resting peripheral blood mononuclear cells PubMed
Tat 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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cAMP binding IEA
Inferred from Electronic Annotation
more info
  
enables cAMP-dependent protein kinase inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cAMP-dependent protein kinase regulator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cAMP-dependent protein kinase regulator activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables molecular function inhibitor activity EXP
Inferred from Experiment
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase A catalytic subunit binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in learning or memory IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cAMP-dependent protein kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of fear response IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of sensory perception of pain IEA
Inferred from Electronic Annotation
more info
  
involved_in protein phosphorylation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of synaptic vesicle cycle IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
  
part_of cAMP-dependent protein kinase complex NAS
Non-traceable Author Statement
more info
 PubMed 
located_in ciliary base TAS
Traceable Author Statement
more info
  
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
  
located_in multivesicular body IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
cAMP-dependent protein kinase type I-beta regulatory subunit
Names
protein kinase, cAMP-dependent, regulatory subunit type I beta
protein kinase, cAMP-dependent, regulatory, type I, beta
NP_001158230.1
NP_001158231.1
NP_001158232.1
NP_001158233.1
NP_001158234.1
NP_002726.1
XP_011513748.1
XP_047276563.1
XP_047276564.1
XP_047276565.1
XP_047276566.1
XP_054214610.1
XP_054214611.1
XP_054214612.1
XP_054214613.1
XP_054214614.1
XP_054214615.1
XP_054214616.1
XP_054214617.1

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

  1. NG_042811.1 RefSeqGene

    Range
    5396..183479
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164758.2 → NP_001158230.1  cAMP-dependent protein kinase type I-beta regulatory subunit

    See identical proteins and their annotated locations for NP_001158230.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All of the variants encode the same protein.
    Source sequence(s)
    AC147651, BC036828, DA910871
    Consensus CDS
    CCDS34579.1
    UniProtKB/Swiss-Prot
    P31321, Q8N422
    Related
    ENSP00000385349.1, ENST00000403562.5
    Conserved Domains (2) summary
    cd12102
    Location:11 → 64
    DD_RIbeta_PKA; Dimerization/Docking domain of the Type I beta Regulatory subunit of cAMP-dependent protein kinase
    cd00038
    Location:255 → 370
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

  2. NM_001164759.1 → NP_001158231.1  cAMP-dependent protein kinase type I-beta regulatory subunit

    See identical proteins and their annotated locations for NP_001158231.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All of the variants encode the same protein.
    Source sequence(s)
    AC147651, BC036828, DA210679
    Consensus CDS
    CCDS34579.1
    UniProtKB/Swiss-Prot
    P31321, Q8N422
    Conserved Domains (2) summary
    cd12102
    Location:11 → 64
    DD_RIbeta_PKA; Dimerization/Docking domain of the Type I beta Regulatory subunit of cAMP-dependent protein kinase
    cd00038
    Location:255 → 370
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

  3. NM_001164760.2 → NP_001158232.1  cAMP-dependent protein kinase type I-beta regulatory subunit

    See identical proteins and their annotated locations for NP_001158232.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. All of the variants encode the same protein.
    Source sequence(s)
    AC147651, BC036828, CT003793
    Consensus CDS
    CCDS34579.1
    UniProtKB/Swiss-Prot
    P31321, Q8N422
    Related
    ENSP00000440449.1, ENST00000537384.6
    Conserved Domains (2) summary
    cd12102
    Location:11 → 64
    DD_RIbeta_PKA; Dimerization/Docking domain of the Type I beta Regulatory subunit of cAMP-dependent protein kinase
    cd00038
    Location:255 → 370
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

  4. NM_001164761.2 → NP_001158233.1  cAMP-dependent protein kinase type I-beta regulatory subunit

    See identical proteins and their annotated locations for NP_001158233.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. All of the variants encode the same protein.
    Source sequence(s)
    AC147651, BC036828, DA162030
    Consensus CDS
    CCDS34579.1
    UniProtKB/Swiss-Prot
    P31321, Q8N422
    Related
    ENSP00000385749.1, ENST00000406797.5
    Conserved Domains (2) summary
    cd12102
    Location:11 → 64
    DD_RIbeta_PKA; Dimerization/Docking domain of the Type I beta Regulatory subunit of cAMP-dependent protein kinase
    cd00038
    Location:255 → 370
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

  5. NM_001164762.2 → NP_001158234.1  cAMP-dependent protein kinase type I-beta regulatory subunit

    See identical proteins and their annotated locations for NP_001158234.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. All of the variants encode the same protein.
    Source sequence(s)
    AC147651, BC036828, DA501689
    Consensus CDS
    CCDS34579.1
    UniProtKB/Swiss-Prot
    P31321, Q8N422
    Related
    ENSP00000444487.1, ENST00000544935.5
    Conserved Domains (2) summary
    cd12102
    Location:11 → 64
    DD_RIbeta_PKA; Dimerization/Docking domain of the Type I beta Regulatory subunit of cAMP-dependent protein kinase
    cd00038
    Location:255 → 370
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

  6. NM_002735.3 → NP_002726.1  cAMP-dependent protein kinase type I-beta regulatory subunit

    See identical proteins and their annotated locations for NP_002726.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All of the variants encode the same protein.
    Source sequence(s)
    AC147651, BC036828, DC314672
    Consensus CDS
    CCDS34579.1
    UniProtKB/Swiss-Prot
    P31321, Q8N422
    Related
    ENSP00000353415.4, ENST00000360274.8
    Conserved Domains (2) summary
    cd12102
    Location:11 → 64
    DD_RIbeta_PKA; Dimerization/Docking domain of the Type I beta Regulatory subunit of cAMP-dependent protein kinase
    cd00038
    Location:255 → 370
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    549197..728934 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420607.1 → XP_047276563.1  cAMP-dependent protein kinase type I-beta regulatory subunit isoform X1

    UniProtKB/Swiss-Prot
    Q8N422

  2. XM_047420608.1 → XP_047276564.1  cAMP-dependent protein kinase type I-beta regulatory subunit isoform X1

    UniProtKB/Swiss-Prot
    Q8N422

  3. XM_011515446.3 → XP_011513748.1  cAMP-dependent protein kinase type I-beta regulatory subunit isoform X2

    Conserved Domains (2) summary
    COG0664
    Location:194 → 304
    Crp; cAMP-binding domain of CRP or a regulatory subunit of cAMP-dependent protein kinases [Signal transduction mechanisms]
    cd00038
    Location:200 → 315
    CAP_ED; effector domain of the CAP family of transcription factors; members include CAP (or cAMP receptor protein (CRP)), which binds cAMP, FNR (fumarate and nitrate reduction), which uses an iron-sulfur cluster to sense oxygen) and CooA, a heme containing CO ...

  4. XM_047420609.1 → XP_047276565.1  cAMP-dependent protein kinase type I-beta regulatory subunit isoform X3

  5. XM_047420610.1 → XP_047276566.1  cAMP-dependent protein kinase type I-beta regulatory subunit isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    650161..832029 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358635.1 → XP_054214610.1  cAMP-dependent protein kinase type I-beta regulatory subunit isoform X1

    UniProtKB/Swiss-Prot
    Q8N422

  2. XM_054358636.1 → XP_054214611.1  cAMP-dependent protein kinase type I-beta regulatory subunit isoform X1

    UniProtKB/Swiss-Prot
    Q8N422

  3. XM_054358637.1 → XP_054214612.1  cAMP-dependent protein kinase type I-beta regulatory subunit isoform X2

  4. XM_054358641.1 → XP_054214616.1  cAMP-dependent protein kinase type I-beta regulatory subunit isoform X3

  5. XM_054358642.1 → XP_054214617.1  cAMP-dependent protein kinase type I-beta regulatory subunit isoform X3

  6. XM_054358639.1 → XP_054214614.1  cAMP-dependent protein kinase type I-beta regulatory subunit isoform X4

  7. XM_054358638.1 → XP_054214613.1  cAMP-dependent protein kinase type I-beta regulatory subunit isoform X4

  8. XM_054358640.1 → XP_054214615.1  cAMP-dependent protein kinase type I-beta regulatory subunit isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P31321.4 GenPept UniProtKB/Swiss-Prot:P31321

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