FKBP1B - FKBP prolyl isomerase 1B Gene

中文名称：FKBP 脯氨酰异构酶 1B

种属: Homo sapiens

同用名: OTK4; FKBP1L; PKBP1L; PPIase; FKBP12.6

基因 ID: 2281 | 基因类型: protein coding

关于 FKBP1B

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:24,033,206-24,063,681 (from NCBI)

This gene has 6 transcripts (splice variants), 188 orthologues and 18 paralogues. Ubiquitous expression in duodenum (RPKM 4.2), brain (RPKM 2.6) and 25 other tissues.

功能概要

该基因编码的蛋白质是免疫亲和蛋白家族的成员，它在免疫调节和涉及蛋白质折叠和运输的基本细胞过程中发挥作用。这种编码的蛋白质是一种顺反式脯氨酰异构酶，可结合免疫抑制剂 FK506 和雷帕霉素。它与 FK506 结合蛋白 1A 高度相似。它的生理学作用被认为是在心肌的兴奋-收缩偶联中。该基因有两种可变剪接的转录变体，编码不同的亚型。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is highly similar to the FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms. [provided by RefSeq, Jul 2008]

FKBP1B 基因产物(4)

mRNA	Protein	Name
NM_001322963.2	NP_001309892.1	peptidyl-prolyl cis-trans isomerase FKBP1B isoform c
NM_001322964.2	NP_001309893.1	peptidyl-prolyl cis-trans isomerase FKBP1B isoform c
NM_004116.5	NP_004107.1	peptidyl-prolyl cis-trans isomerase FKBP1B isoform a
NM_054033.4	NP_473374.1	peptidyl-prolyl cis-trans isomerase FKBP1B isoform b

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables FK506 binding	IDA IDA: 通过直接分析推断	7592869	GOA
enables calcium channel inhibitor activity	IDA IDA: 通过直接分析推断	12443530	GOA
enables channel regulator activity	IMP IMP: 通过突变表型推断	7592869	GOA
enables peptidyl-prolyl cis-trans isomerase activity	IDA IDA: 通过直接分析推断	7513996	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	7592869	GOA
enables signaling receptor binding	IPI IPI: 通过物理相互作用推断	10830164	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in calcium-mediated signaling	IGI IGI: 通过遗传相互作用推断	22087651	GOA
involved in negative regulation of calcium-mediated signaling	IDA IDA: 通过直接分析推断	12443530	GOA
involved in negative regulation of release of sequestered calcium ion into cytosol	IDA IDA: 通过直接分析推断	12443530	GOA
involved in positive regulation of sequestering of calcium ion	IDA IDA: 通过直接分析推断	12443530	GOA
involved in regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	IDA IDA: 通过直接分析推断	7592869	GOA
involved in regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA IDA: 通过直接分析推断	20431056	GOA
involved in response to redox state	IDA IDA: 通过直接分析推断	19226252	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Z disc	IDA IDA: 通过直接分析推断	20431056	GOA
part of calcium channel complex	IDA IDA: 通过直接分析推断	10830164	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	12443530	GOA
located in membrane	IDA IDA: 通过直接分析推断	12443530	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

FKBP1B 蛋白结构

FKBP_C

0
100
108 a.a.

蛋白主名

其他名称

peptidyl-prolyl cis-trans isomerase FKBP1B

12.6 kDa FK506-binding protein

关联疾病

疾病名称

别名

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt	Catecholamine-Induced Polymorphic Ventricular Tachycardia
Familial Polymorphic Ventricular Tachycardia	Malignant Paroxysmal Ventricular Tachycardia
Multifocal Ventricular Premature Beats	Stress-Induced Polymorphic Ventricular Tachycardia
Bidirectional Tachycardia Induced By Catecholamine	Double Tachycardia Induced By Catecholamines
Polymorphic Catecholergic Ventricular Tachycardia	Syncopal Paroxysmal Tachycardia
Bidirectional Tachycardia Induced By Catecholamines	Fpvt
Bidirectional Ventricular Tachycardia Induced By Catecholamine	Polymorphic Ventricular Tachycardia Induced By Catecholamines
Ventricular Tachycardia, Catecholaminergic Polymorphic	Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
Familial Ventricular Tachycardia	Multifocal Pvcs
Multifocal Premature Ventricular Beats

Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Arrhythmogenic Right Ventricular Dysplasia 2	ARVD2
Arrhythmogenic Right Ventricular Cardiomyopathy 2	Arvc2
Familial Arrhythmogenic Right Ventricular Dysplasia 2	Dysplasia, Arrhythmogenic Right Ventricular, Type 2

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy

Catecholaminergic Polymorphic Ventricular Tachycardia 1	Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
CPVT1	Ventricular Tachycardia, Stress-Induced Polymorphic
Vtsip	Bidirectional Tachycardia
Stress-Induced Polymorphic Ventricular Tachycardia	Cvpt1
Double Tachycardia Induced By Catecholamines	Malignant Paroxysmal Ventricular Tachycardia
Multifocal Ventricular Premature Beats	Paroxysmal Ventricular Fibrillation
Syncopal Paroxysmal Tachycardia	Syncopal Tachyarythmia
Ventricular Tachycardia Catecholaminergic Polymorphic 1	Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 1
Multifocal Pvcs	Multifocal Premature Ventricular Beats
Paroxysmal Familial Ventricular Fibrillation	Catecholaminergic Polymorphic Ventricular Tachycardia Type 1

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Central Core Disease Of Muscle

Central Core Disease	Central Core Myopathy
CCD	Cco
Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber	Myopathy, Central Core
Shy-Magee Syndrome	Muscle Core Disease
Muscular Central Core Disease	Myopathy, Central Fibrillar
Shy'S Disease	Moderate Multiminicore Disease With Hand Involvement

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Catecholaminergic Polymorphic Ventricular Tachycardia 2	CPVT2
Vtsip	Bidirectional Tachycardia
Stress-Induced Polymorphic Ventricular Tachycardia	Ventricular Tachycardia, Stress-Induced Polymorphic
Cvpt2	Double Tachycardia Induced By Catecholamines
Malignant Paroxysmal Ventricular Tachycardia	Multifocal Ventricular Premature Beats
Paroxysmal Ventricular Fibrillation	Syncopal Paroxysmal Tachycardia
Syncopal Tachyarythmia	Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 2
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1	Multifocal Pvcs
Multifocal Premature Ventricular Beats	Paroxysmal Familial Ventricular Fibrillation

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Arrhythmogenic Right Ventricular Dysplasia 10	ARVD10
Arrhythmogenic Right Ventricular Cardiomyopathy 10	Arvc10
Familial Arrhythmogenic Right Ventricular Dysplasia 10	Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Multiminicore Disease

Multiminicore Myopathy	Mmd
Minicore Disease	Minicore Myopathy
Multi-Core Congenital Myopathy	Multi-Core Disease
Multi-Minicore Disease	Multicore Disease
Multicore Myopathy	Minicore Myopathy With External Ophthalmoplegia

Long Qt Syndrome 1

Romano-Ward Syndrome	LQT1
Ward-Romano Syndrome	Rws
Ventricular Fibrillation With Prolonged Qt Interval	Wrs
Long Qt Syndrome 1, Acquired, Susceptibility To	Long Qt Syndrome 1, Acquired
Romano-Ward Long Qt Syndrome	Long Qt Syndrome Type 1
Long Qt Syndrome-1	Acquired Susceptibility To Long Qt Syndrome 1
Qt Syndrome, Long, Type 1

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS04961	FKBP1B Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	FKBP1B	VGNC	VGNC:106166
Rattus norvegicus	FKBP1B	RGD	RGD:61835
Bos taurus	FKBP1B	VGNC	VGNC:29021
Canis familiaris	FKBP1B	VGNC	VGNC:54305
Mus musculus	FKBP1B	MGD	MGI:1336205

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