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

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

中文名称:蛋白激酶 cAMP 依赖性 I 型调节亚基 β

种属: Homo sapiens

同用名: MASNS; PRKAR1

基因 ID: 5575 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白是环腺苷酸依赖性蛋白激酶 A (PKA) 的调节亚基,参与第二信使 cAMP 的信号通路。两个调节亚基和两个催化亚基形成 PKA 全酶,在 cAMP 结合后解散。全酶参与许多细胞事件,包括离子转运、新陈代谢和转录。已发现该基因的几种转录变体编码相同的蛋白质。[RefSeq 提供,2015 年 8 月]

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 基因产物(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 蛋白结构

RIIa

RIIa: Regulatory subunit of type II PKA R-subunit (25 - 61)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (160 - 236)

cNMP_binding

cNMP_binding: Cyclic nucleotide-binding domain (274 - 361)

  • 0
  • 100
  • 200
  • 300
  • 381 a.a.
蛋白主名 其他名称

cAMP-dependent protein kinase type I-beta regulatory subunit

protein kinase, cAMP-dependent, regulatory subunit type I beta

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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