2. Gene
  3. UNC45B - unc-45 myosin chaperone B Gene

UNC45B - unc-45 myosin chaperone B Gene

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

中文名称：unc-45 肌球蛋白伴侣 B

种属: Homo sapiens

同用名: CMYA4; MFM11; UNC45; CTRCT43; SMUNC45; UNC-45B

基因 ID: 146862 | 基因类型: protein coding

关于 UNC45B

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:35,147,817-35,189,345 (from NCBI)

This gene has 3 transcripts (splice variants), 218 orthologues, 18 paralogues and is associated with 6 phenotypes. Restricted expression toward heart (RPKM 36.4).

功能概要

该基因编码 II 型肌球蛋白折叠和积累所需的辅助伴侣蛋白。该蛋白质由 N 端的三个四肽重复基序组成，与热休克蛋白 90 形成复合物，一个在所有 Unc-45 蛋白中保守的功能未知的中心区域，以及一个 C 端 Unc-45/Cro1/ She4 域。该蛋白质在横纹肌中以高水平表达，其肌肉肌球蛋白伴侣活性依赖于作为辅助伴侣的热休克蛋白 90。该基因的错义突变与白内障的发展有关。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 4 月]

This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle Myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

UNC45B 基因产物(4)

mRNA Protein Name
NM_001033576.2 NP_001028748.1 protein unc-45 homolog B isoform 2
NM_001267052.2 NP_001253981.1 protein unc-45 homolog B isoform 2
NM_001308281.1 NP_001295210.1 protein unc-45 homolog B isoform 3
NM_173167.3 NP_775259.1 protein unc-45 homolog B isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
25036637 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

UNC45B 蛋白结构

TPR_11

TPR_11: TPR repeat (6 - 73)

TPR_1

TPR_1: Tetratricopeptide repeat (78 - 110)

UNC45-central

UNC45-central: Myosin-binding striated muscle assembly central (273 - 489)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 931 a.a.
蛋白主名 其他名称

protein unc-45 homolog B

cardiomyopathy associated 4

UNC45B 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
UNC45B Q8IWX7 HSP90AA1 Homo sapiens P07900
Anti Tag CoIP
33961781
种属内
UNC45B Q8IWX7 HSP90AB1 Homo sapiens P08238
Anti Tag CoIP
33961781
种属内
UNC45B Q8IWX7 HSP90AB1 Homo sapiens P08238
Anti Tag CoIP
25036637
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Cataract 43

CTRCT43

Cataract, Type 43
Myofibrillar Myopathy 11

MFM11

Myopathy, Congenital, With Eccentric Cores

Myopathy, Myofibrillar, 11
Early-Onset Posterior Subcapsular Cataract
Myopathy

Muscular Diseases

Myopathies
Early-Onset Nuclear Cataract
Cardiomyopathy, Dilated, 1a

Dilated Cardiomyopathy 1a

Cdcd1

CMD1A

Cardiomyopathy, Familial Idiopathic

Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation

Cardiomyopathy, Dilated, With Conduction Defect 1

Cardiomyopathy, Idiopathic Dilated

Cardiomyopathy, Congestive

Dilated Cardiomyopathy With Conduction Defect 1

Cardiomyopathy Dilated With Conduction Defect Type 1

Cardiomyopathy, Dilated 1a

Cardiomyopathy Dilated With Conduction Defect 1

Cardiomyopathy, Dilated, Type 1a
Cardiomyopathy, Dilated, 1h

Dilated Cardiomyopathy 1h

Dilated Cardiomyopathy With Conduction Defect

CMD1H

Cardiomyopathy, Dilated, With Conduction Defect
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
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
Inflammatory Bowel Disease 27

IBD27
Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency

Congenital Muscular Dystrophy Due To Integrin Alpha-7 Deficiency

Muscular Dystrophy, Congenital, Due To Itga7 Deficiency

Congenital Muscular Dystrophy With Integrin Alpha-7 Deficiency

Congenital Muscular Dystrophy With Itga7 Deficiency

Congenital Myopathy Due To Integrin Alpha-7 Deficiency

Myopathy, Congenital, Due To Integrin Alpha-7 Deficiency

Muscular Dystrophy Congenital Due To Integrin Alpha-7 Deficiency

MDCI

Dystrophy, Muscular, Congenital, Due To Integrin Alpha-7 Deficiency
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia
Deafness, Autosomal Recessive 102

DFNB102

Autosomal Recessive Nonsyndromic Deafness 102

Autosomal Recessive Deafness 102

Deafness, Autosomal Recessive, 102

Deafness, Autosomal Recessive, Type 102
Nonaka Myopathy

Gne Myopathy

Hibm

Distal Myopathy With Rimmed Vacuoles

Hereditary Inclusion Body Myopathy

Ibm2

Inclusion Body Myopathy, Quadriceps-Sparing

Qsm

Dmrv

Distal Myopathy, Nonaka Type

Inclusion Body Myopathy 2

Inclusion Body Myopathy, Autosomal Recessive

NM

Nonaka Distal Myopathy

Myopathy, Distal, With Or Without Rimmed Vacuoles

Inclusion Body Myopathy, Hereditary, Autosomal Recessive

Inclusion Body Myopathy Type 2

Quadriceps-Sparing Myopathy

Quadriceps Sparing Myopathy

Rimmed Vacuole Myopathy

Inclusion Body Myopathy 2, Autosomal Recessive, Formerly

Ibm2, Formerly

Hibm2

Hereditary Inclusion Body Myopathy Type 2

Inclusion Body Myopathy 2, Autosomal Recessive

Myopathy, Distal, With Rimmed Vacuoles

Inclusion Body Myopathy Autosomal Recessive

Myopathy, Inclusion Body, Type 2

Myopathy, Nonaka
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-RS15469 UNC45B 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 UNC45B VGNC VGNC:78954
Felis catus UNC45B VGNC VGNC:66826
Bos taurus UNC45B VGNC VGNC:36668
Rattus norvegicus UNC45B RGD RGD:1305666
Canis familiaris UNC45B VGNC VGNC:48138
Mus musculus UNC45B MGD MGI:2443377
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