2. Gene
  3. FKBP1A - FKBP prolyl isomerase 1A Gene

FKBP1A - FKBP prolyl isomerase 1A Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：FKBP 脯氨酰异构酶 1A

种属: Homo sapiens

同用名: FKBP1; PKC12; PKCI2; FKBP12; PPIASE; FKBP-12; FKBP-1A

基因 ID: 2280 | 基因类型: protein coding

关于 FKBP1A

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:1,368,978-1,393,054 (from NCBI)

This gene has 19 transcripts (splice variants), 165 orthologues and 18 paralogues. Ubiquitous expression in placenta (RPKM 88.0), thyroid (RPKM 87.6) 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。该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。它与多种细胞内信号转导蛋白相互作用，包括 I 型 TGF-β 受体。它还与多个细胞内钙释放通道相互作用，并协调四聚体骨骼肌兰尼碱受体的多蛋白复合物形成。在小鼠中，该同源基因的缺失会导致先天性心脏病，称为左心室心肌致密化不全。已经鉴定出编码相同蛋白质的多个可变剪接变体。人类基因组包含五个与该基因相关的假基因，其中至少一个被转录。[RefSeq 提供，2008 年 9 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. The protein is a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It interacts with several intracellular signal transduction proteins including type I TGF-beta Receptor. It also interacts with multiple intracellular calcium release channels, and coordinates multi-protein complex formation of the tetrameric skeletal muscle ryanodine receptor. In mouse, deletion of this homologous gene causes congenital heart disorder known as noncompaction of left ventricular myocardium. Multiple alternatively spliced variants, encoding the same protein, have been identified. The human genome contains five pseudogenes related to this gene, at least one of which is transcribed. [provided by RefSeq, Sep 2008]

FKBP1A 基因产物(3)

mRNA Protein Name
NM_000801.5 NP_000792.1 peptidyl-prolyl cis-trans isomerase FKBP1A isoform a
NM_001199786.2 NP_001186715.1 peptidyl-prolyl cis-trans isomerase FKBP1A isoform b
NM_054014.4 NP_463460.1 peptidyl-prolyl cis-trans isomerase FKBP1A isoform a
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 I-SMAD binding IPI
IPI: 通过物理相互作用推断
16720724 GOA
enables activin receptor binding IPI
IPI: 通过物理相互作用推断
16720724 GOA
enables channel regulator activity IDA
IDA: 通过直接分析推断
7592869 GOA
enables peptidyl-prolyl cis-trans isomerase activity IDA
IDA: 通过直接分析推断
1696686 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9857007 GOA
enables signaling receptor inhibitor activity IDA
IDA: 通过直接分析推断
16720724 GOA
enables type I transforming growth factor beta receptor binding IPI
IPI: 通过物理相互作用推断
11583628 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in amyloid fibril formation IDA
IDA: 通过直接分析推断
18346205 GOA
involved in negative regulation of activin receptor signaling pathway IDA
IDA: 通过直接分析推断
16720724 GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway IDA
IDA: 通过直接分析推断
11583628 GOA
involved in positive regulation of protein binding IDA
IDA: 通过直接分析推断
18346205 GOA
involved in protein peptidyl-prolyl isomerization IDA
IDA: 通过直接分析推断
1696686 GOA
involved in regulation of amyloid precursor protein catabolic process IGI
IGI: 通过遗传相互作用推断
24499793 GOA
involved in regulation of immune response IMP
IMP: 通过突变表型推断
2477715 GOA
involved in regulation of protein localization IGI
IGI: 通过遗传相互作用推断
24499793 GOA
involved in regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion IDA
IDA: 通过直接分析推断
7592869 GOA
involved in supramolecular fiber organization IDA
IDA: 通过直接分析推断
18346205 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
located in cytoplasm IDA
IDA: 通过直接分析推断
12443530 GOA
located in cytosol IDA
IDA: 通过直接分析推断
1701173 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

FKBP1A 蛋白结构

FKBP_C

FKBP_C: FKBP-type peptidyl-prolyl cis-trans isomerase (14 - 105)

  • 0
  • 100
  • 108 a.a.
蛋白主名 其他名称

peptidyl-prolyl cis-trans isomerase FKBP1A

12 kDa FK506-binding protein

重组 FKBP1A 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76345 FKBP12 Protein, Human (His) P62942/NP_463460.1 (M1-E108) ≥95%

关联疾病

疾病名称 别名
Fibrodysplasia Ossificans Progressiva

Myositis Ossificans Progressiva

Progressive Myositis Ossificans

FOP

Progressive Ossifying Myositis

Myositis Ossificans

Stone Man Syndrome

Man Of Stone

Myositis Ossificans Progressive

Diffuse Progressive Ossifying Polymyositis

Fibrodysplasia Ossificans Congenita

Myositis Ossificans Progressiva, Site Unspecified

Münchmeyer Disease

Fop - [Fibrodysplasia Ossificans Progressiva]

Progressive Myositis Ossificans Calcification
Subependymal Glioma

Mixed Subependymoma-Ependymoma

Subependymal Astrocytoma

Who Grade I Ependymal Tumor

Glioma, Subependymal
Exudative Vitreoretinopathy 6

EVR6

Vitreoretinopathy, Exudative 6

Vitreoretinopathy, Exudative, Type 6
Benign Ependymoma

Ependymoma

Epithelial Ependymoma

Who Grade Ii Ependymal Tumor

Myxopapillary Ependymoma
Kidney Angiomyolipoma

Angiomyolipoma Of Kidney

Renal Angiomyolipoma
Chronic Follicular Conjunctivitis
Subependymal Giant Cell Astrocytoma

Sega

Astrocytoma Subependymal Giant Cell

Subependymal Giant-Cell Astrocytoma
Corneal Neovascularization

Corneal Neovascularisation

Corneal Vascularisation

Extensive Superficial Corneal Vascularisation
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
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
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
Malignant Hyperthermia

Anesthesia Related Hyperthermia

Malignant Hyperpyrexia Due To Anesthesia

Hyperpyrexia, Malignant

Hyperthermia, Malignant

Malignant Hyperpyrexia

Mhs

Malignant Fever
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
Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation

Lvnc

Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction

Lvht

Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction 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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04960 FKBP1A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus FKBP1A RGD RGD:2617
Mus musculus FKBP1A MGD MGI:95541
Others FKBP1A NCBI
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