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

Summary

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: mouse all
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Genomic context

Location:: 7p22.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (549197..728934, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (650161..832029, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (588834..767313, complement)

Chromosome 7 - NC_000007.14 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: HPA RNA-seq normal tissues 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?

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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Dengue hemorrhagic fever is associated with polymorphisms in JAK1.
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.
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.
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.

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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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:4585615 (e-PCR)
- UniSTS:7480

G62094 (e-PCR)
- UniSTS:139111

D7S2794 (e-PCR)
- UniSTS:57740

PRKAR1B (e-PCR)
- UniSTS:278958

RH48875 (e-PCR)
- UniSTS:3002

SHGC-130833 (e-PCR)
- UniSTS:184512

PRKAR1B (e-PCR)
- UniSTS:75207

D7S540E (e-PCR)
- UniSTS:147423

PRKAR1B__7235 (e-PCR)
- UniSTS:466404

HSC182_(GAP_608_G) (e-PCR)
- UniSTS:255207

GDB:1318080 (e-PCR)
- UniSTS:25325

G10106 (e-PCR)
- UniSTS:69614

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cAMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables cAMP-dependent protein kinase inhibitor activity	IBA Inferred from Biological aspect of Ancestor 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 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase A catalytic subunit binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase A catalytic subunit binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in learning or memory	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cAMP/PKA signal transduction	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 regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
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	IBA Inferred from Biological aspect of Ancestor 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
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

EC 2.7.11.1

NP_001158231.1

EC 2.7.11.1

NP_001158232.1

EC 2.7.11.1

NP_001158233.1

EC 2.7.11.1

NP_001158234.1

EC 2.7.11.1

NP_002726.1

EC 2.7.11.1

XP_011513748.1

EC 2.7.11.1

XP_047276563.1

EC 2.7.11.1

XP_047276564.1

EC 2.7.11.1

XP_047276565.1

EC 2.7.11.1

XP_047276566.1

EC 2.7.11.1

XP_054214610.1

EC 2.7.11.1

XP_054214611.1

EC 2.7.11.1

XP_054214612.1

EC 2.7.11.1

XP_054214613.1

EC 2.7.11.1

XP_054214614.1

EC 2.7.11.1

XP_054214615.1

EC 2.7.11.1

XP_054214616.1

EC 2.7.11.1

XP_054214617.1

EC 2.7.11.1

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

NG_042811.1 RefSeqGene

Range

5396..183479

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A8K099, B4DM81

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 ...
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

UniProtKB/TrEMBL

A8K099, B4DM81

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 ...
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

UniProtKB/TrEMBL

A8K099, B4DM81

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 ...
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

UniProtKB/TrEMBL

A8K099, B4DM81

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 ...
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

UniProtKB/TrEMBL

A8K099, B4DM81

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 ...
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

UniProtKB/TrEMBL

A8K099, B4DM81

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

549197..728934 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

P31321, Q8N422
XM_047420608.1 → XP_047276564.1 cAMP-dependent protein kinase type I-beta regulatory subunit isoform X1

UniProtKB/Swiss-Prot

P31321, Q8N422
XM_011515446.3 → XP_011513748.1 cAMP-dependent protein kinase type I-beta regulatory subunit isoform X2

UniProtKB/TrEMBL

A8K099, B4DM81

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 ...
XM_047420609.1 → XP_047276565.1 cAMP-dependent protein kinase type I-beta regulatory subunit isoform X3
XM_047420610.1 → XP_047276566.1 cAMP-dependent protein kinase type I-beta regulatory subunit isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

650161..832029 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

P31321, Q8N422
XM_054358636.1 → XP_054214611.1 cAMP-dependent protein kinase type I-beta regulatory subunit isoform X1

UniProtKB/Swiss-Prot

P31321, Q8N422
XM_054358637.1 → XP_054214612.1 cAMP-dependent protein kinase type I-beta regulatory subunit isoform X2
XM_054358641.1 → XP_054214616.1 cAMP-dependent protein kinase type I-beta regulatory subunit isoform X3
XM_054358642.1 → XP_054214617.1 cAMP-dependent protein kinase type I-beta regulatory subunit isoform X3
XM_054358639.1 → XP_054214614.1 cAMP-dependent protein kinase type I-beta regulatory subunit isoform X4
XM_054358638.1 → XP_054214613.1 cAMP-dependent protein kinase type I-beta regulatory subunit isoform X4
XM_054358640.1 → XP_054214615.1 cAMP-dependent protein kinase type I-beta regulatory subunit isoform X4