2. Gene
  3. FKBP4 - FKBP prolyl isomerase 4 Gene

FKBP4 - FKBP prolyl isomerase 4 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 4

种属: Homo sapiens

同用名: HBI; p52; Hsp56; FKBP51; FKBP52; FKBP59; PPIase

基因 ID: 2288 | 基因类型: protein coding

关于 FKBP4

Cytogenetic location: 12p13.33 Genomic coordinates (GRCh38): 12:2,794,970-2,805,423 (from NCBI)

This gene has 8 transcripts (splice variants), 218 orthologues and 18 paralogues. Ubiquitous expression in testis (RPKM 24.9), kidney (RPKM 21.3) 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，可与免疫抑制剂 FK506 和雷帕霉素结合。它与 FK506 结合蛋白 1A (FKBP1A) 具有高度的结构和功能相似性，但与 FKBP1A 不同的是，该蛋白与 FK506 复合时不具有免疫抑制活性。它与干扰素调节因子 4 相互作用，在 B 和 T 淋巴细胞的免疫调节基因表达中起重要作用。已知这种编码的蛋白质与植烷酰辅酶 A α-羟化酶相关。它还可以与两种热休克蛋白 (HSP90 和 HSP70) 结合，因此可能在类固醇激素受体的异源寡聚形式的细胞内运输中发挥作用。这种蛋白质与腺相关病毒 2 型载体 (AAV) 密切相关，导致人类细胞系中 AAV 介导的转基因表达显着增加。因此，这种编码的蛋白质被认为对 AAV 载体在人类基因治疗中的最佳使用具有重要意义。人类基因组包含几个与该基因相似的非转录假基因。[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. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (HSP90 and HSP70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008]

FKBP4 基因产物(1)

mRNA Protein Name
NM_002014.4 NP_002005.1 peptidyl-prolyl cis-trans isomerase FKBP4

FKBP4 蛋白结构

FKBP_C

FKBP_C: FKBP-type peptidyl-prolyl cis-trans isomerase (45 - 134)

FKBP_C

FKBP_C: FKBP-type peptidyl-prolyl cis-trans isomerase (162 - 249)

TPR_1

TPR_1: Tetratricopeptide repeat (275 - 295)

TPR_11

TPR_11: TPR repeat (321 - 384)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 459 a.a.
蛋白主名 其他名称

peptidyl-prolyl cis-trans isomerase FKBP4

FK506 binding protein 4, 59kDa

重组 FKBP4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70405 FKBP4 Protein, Human (His) Q02790 (M1-A459) ≥95%

关联疾病

疾病名称 别名
Androgen Insensitivity Syndrome

Androgen Resistance Syndrome

AIS

Testicular Feminization Syndrome

Androgen Receptor Deficiency

Dhtr Deficiency

Dihydrotestosterone Receptor Deficiency

Ar Deficiency

Testicular Feminization

Tfm

Androgen Insensitivity

Androgen-Insensitivity Syndrome

Goldberg-Maxwell Syndrome

Complete Androgen Insensitivity Syndrome

Cais

Feminisation - Testicular

Goldberg - Maxwell Syndrome

Androgen Insensitivity Syndrome, Complete

Morris Syndrome

Ary

AR

Insensitivity Syndrome, Androgen

Androgen Insensitivity Nos
Paralytic Lagophthalmos
Ocular Hypertension

Hypertension, Ocular

Intraocular Pressure Increase

Oh - [Ocular Hypertension]

Oht - [Ocular Hypertension]
Sulfhemoglobinemia
Hypospadias

Hypospadias Familial

Familial Hypospadias
Facial Paralysis

Facial Palsy

Bell Palsy
Facial Nerve Disease

Facial Nerve Disorder

Facial Nerve Diseases

Neuropathy Of Facial Nerve

Disorders Of 7th Cranial Nerve

Disorders Of The Seventh Cranial Nerve
Bell'S Palsy

Bell Palsy

Facial Nerve Palsy

Facial Palsy

Facial Paralysis

Bell'S Palsy

Antoni'S Palsy

Facial Cranial Nerve Paralysis

Idiopathic Facial Palsy

Refrigeration Palsy

Facial Nerve Paralysis

Seventh Cranial Nerve Paralysis

Face Paralysis Nos
Non-Suppurative Otitis Media

Nonsuppurative Otitis Media
Cerebellopontine Angle Tumor

Cerebellopontine Angle Tumour

Neoplasm Of The Cerebellopontine Angle
Schwannoma Of Twelfth Cranial Nerve

Hypoglossal Schwannoma

Schwannoma Of The Twelfth Cranial Nerve
Hypoglossal Nerve Disease

Hypoglossal Nerve Diseases

Disorder Of 12th Nerve

Disorder Of Hypoglossal [12th] Nerve

Disorder Of Hypoglossal Nerve

Disorder Of Xii Nerve

Disorders Of The Twelfth Cranial Nerve

Disorders Of 12th Cranial Nerve
Acoustic Neuroma

Neurofibromatosis Type 2

Vestibular Schwannoma

Acoustic Neurinoma

Bilateral Acoustic Neurofibromatosis

Nf2

Acoustic Neurilemoma

Cerebellopontine Angle Tumor

Neurofibromatosis Central Type

Neurofibromatosis Type Ii

Vestibular Neurilemmoma

Acoustic Tumor

Neurinoma Of The Acoustic Nerve

Acoustic Neurinoma Bilateral

Acoustic Schwannomas Bilateral

Banf

Central Neurofibromatosis

Familial Acoustic Neuromas

Neurofibromatosis 2

Neurofibromatosis Type 2 Merlin

Schwannoma, Acoustic, Bilateral

Neuroma Acoustic

Neuroma, Acoustic

Familial Acoustic Neuroma

Familial Vestibular Schwannoma

Neurofibromatosis, Central Type

Nf2 - [Neurofibromatosis Type 2]
Skin Atrophy

Atrophic Condition Of Skin

Atrophoderma

Atrophy - Skin
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-RS04964 FKBP4 Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus FKBP4 RGD RGD:628729
Mus musculus FKBP4 MGD MGI:95543
Macaca mulatta FKBP4 VGNC VGNC:72664
Felis catus FKBP4 VGNC VGNC:62280
Bos taurus FKBP4 VGNC VGNC:29023
Canis familiaris FKBP4 VGNC VGNC:40890
Others FKBP4 NCBI
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