PRKAR1B - protein kinase cAMP-dependent type I regulatory subunit beta Gene

Also Known as MASNS; PRKAR1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5575

About PRKAR1B

Cytogenetic location: 7p22.3 Genomic coordinates (GRCh38): 7:549,197-728,934 (from NCBI)

This gene has 14 transcripts (splice variants), 199 orthologues, 4 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 53.5), ovary (RPKM 6.9) and 11 other tissues.

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]

PRKAR1B Products (6)

mRNA	Protein	Name
NM_001164758.2	NP_001158230.1	cAMP-dependent protein kinase type I-beta regulatory subunit
NM_001164759.1	NP_001158231.1	cAMP-dependent protein kinase type I-beta regulatory subunit
NM_001164760.2	NP_001158232.1	cAMP-dependent protein kinase type I-beta regulatory subunit
NM_001164761.2	NP_001158233.1	cAMP-dependent protein kinase type I-beta regulatory subunit
NM_001164762.2	NP_001158234.1	cAMP-dependent protein kinase type I-beta regulatory subunit
NM_002735.3	NP_002726.1	cAMP-dependent protein kinase type I-beta regulatory subunit

PRKAR1B Protein Structure

RIIa

cNMP_binding

0
100
200
300
381 a.a.

Protein Preferred Names	Protein Names
cAMP-dependent protein kinase type I-beta regulatory subunit	protein kinase, cAMP-dependent, regulatory subunit type I beta

Related Diseases

Diseases	Alias
Marbach-Schaaf Neurodevelopmental Syndrome	MASNS
Prkar1b-Related Neurodegenerative Dementia With Intermediate Filaments
Ciliary Dyskinesia, Primary, 18	CILD18 Primary Ciliary Dyskinesia 18 Primary Ciliary Dyskinesia 18 With Or Without Situs Inversus Ciliary Dyskinesia, Primary, 18, With Or Without Situs Inversus Ics18 Immotile Cilia Syndrome 18 Dyskinesia, Ciliary, Primary, 18
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Apraxia	Apraxias Dyspraxia
Breast Ductal Adenoma
Primary Pigmented Nodular Adrenocortical Disease	Ppnad Primary Pigmented Nodular Adrenal Dysplasia Pigmented Nodular Adrenocortical Disease, Primary, 2 Pigmented Nodular Adrenocortical Disease, Primary, 1
Breast Adenoma	Ademoma - Breast
Carney Complex Variant	Carney Complex Carney Syndrome Carney Complex, Type 1 Lamb Syndrome Name Syndrome Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome Carney Complex - Trismus - Pseudocamptodactyly Syndrome Carney Complex, Type 2 Car Cnc1 Carney Myxoma-Endocrine Complex Myxoma - Spotty Pigmentation - Endocrine Overactivity Myxoma, Spotty Pigmentation, And Endocrine Overactivity Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome Carney Complex-Trismus-Pseudocamptodactyly Syndrome CACOV
Melanotic Neurilemmoma	Melanotic Schwannoma Pigmented Neurilemmoma Pigmented Schwannoma
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11113	PRKAR1B Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PRKAR1B	RGD	RGD:3392
Bos taurus	PRKAR1B	VGNC	VGNC:58609
Felis catus	PRKAR1B	VGNC	VGNC:69052
Mus musculus	PRKAR1B	MGD	MGI:97759
Canis familiaris	PRKAR1B	VGNC	VGNC:44975
Macaca mulatta	PRKAR1B	VGNC	VGNC:108430
Others	PRKAR1B	NCBI