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

Homo sapiens

Also known as MASNS; PRKAR1

Gene ID: 5575 | Gene type: protein coding

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

Bioactive Molecules (1)

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

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