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  2. DNAJB6 - DnaJ heat shock protein family (Hsp40) member B6 Gene

DNAJB6 - DnaJ heat shock protein family (Hsp40) member B6 Gene

中文名称:DnaJ 热休克蛋白家族 (Hsp40) 成员 B6

种属: Homo sapiens

同用名: DJ4; MRJ; DnaJ; HSJ2; HHDJ1; HSJ-2; MSJ-1; LGMD1D; LGMD1E; LGMDD1

基因 ID: 10049 | 基因类型: protein coding

关于 DNAJB6

Cytogenetic location: 7q36.3 Genomic coordinates (GRCh38): 7:157,337,004-157,417,439 (from NCBI)

This gene has 18 transcripts (splice variants), 197 orthologues, 11 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 36.6), bone marrow (RPKM 32.4) and 25 other tissues.

功能概要

该基因编码 DNAJ 蛋白家族的一个成员。 DNAJ 家族成员的特点是高度保守的氨基酸延伸称为“J 结构域”,作为参与广泛细胞事件 (如蛋白质折叠和寡聚蛋白质复合物组装) 的两大类分子伴侣之一发挥作用。该家族成员也可能在特定神经元的聚谷氨酰胺聚集中发挥作用。该基因的可变剪接导致多个转录变体;然而,并非所有变体都得到了充分描述。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the DNAJ protein family. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. This family member may also play a role in polyglutamine aggregation in specific neurons. Alternative splicing of this gene results in multiple transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]

DNAJB6 基因产物(3)

mRNA Protein Name
NM_001363676.1 NP_001350605.1 dnaJ homolog subfamily B member 6 isoform d
NM_005494.3 NP_005485.1 dnaJ homolog subfamily B member 6 isoform b
NM_058246.4 NP_490647.1 dnaJ homolog subfamily B member 6 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 ATPase activator activity IDA
IDA: 通过直接分析推断
11896048 GOA
enables heat shock protein binding IDA
IDA: 通过直接分析推断
10954706 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
22366786 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10954706 GOA
enables protein-folding chaperone binding IDA
IDA: 通过直接分析推断
11896048 GOA
enables protein-folding chaperone binding IPI
IPI: 通过物理相互作用推断
21231916 GOA
enables unfolded protein binding IDA
IDA: 通过直接分析推断
21231916 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intermediate filament organization IDA
IDA: 通过直接分析推断
10954706 GOA
involved in negative regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
IDA: 通过直接分析推断
11896048 GOA
involved in negative regulation of inclusion body assembly IDA
IDA: 通过直接分析推断
21231916 GOA
involved in negative regulation of inclusion body assembly IMP
IMP: 通过突变表型推断
20889486 GOA
involved in protein folding IDA
IDA: 通过直接分析推断
11896048 GOA
involved in regulation of protein localization IMP
IMP: 通过突变表型推断
20889486 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
22366786 GOA
located in cytosol IDA
IDA: 通过直接分析推断
21231916 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10954706 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
10954706 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

DNAJB6 蛋白结构

DnaJ

DnaJ: DnaJ domain (3 - 66)

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

dnaJ homolog subfamily B member 6

DnaJ (Hsp40) homolog, subfamily B, member 6

DNAJB6 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
DNAJB6 O75190 MLF2 Homo sapiens Q15773 25036637
种属内
DNAJB6 O75190 MLF2 Homo sapiens Q15773 23414517
种属内
DNAJB6 O75190 KRT18 Homo sapiens P05783
Y2H
10954706
种属内
DNAJB6 O75190 KRT18 Homo sapiens P05783 10954706
种属内
DNAJB6 O75190 KRT18 Homo sapiens P05783 10954706
种属内
DNAJB6 O75190 MLF1 Homo sapiens P58340 25036637
种属内
DNAJB6 O75190 MLF1 Homo sapiens P58340 23414517
种属间: 跨种属相互作用 种属内: 同种属相互作用

DNAJB6 抗体

目录号 产品名 应用 反应物种
HY-P82959 DNAJB6 Antibody (YA2704) WB, IHC-P Human, Mouse, Rat

关联疾病

疾病名称 别名
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1

Muscular Dystrophy, Limb-Girdle, Type 1e

Lgmd1d

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d

LGMDD1

Lgmd1e

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1

Limb-Girdle Muscular Dystrophy Type 1d

Muscular Dystrophy, Limb-Girdle, Type 1d

Muscular Dystrophy, Limb-Girdle, Type 1d, Formerly

Lgmd1d, Formerly

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e

Muscular Dystrophy Limb-Girdle Type 1d

Muscular Dystrophy Limb-Girdle Type 1e

Dnajb6-Related Limb-Girdle Muscular Dystrophy D1

Dnajb6-Related Lgmd D1

Lgmd Type 1d

Limb-Girdle Muscular Dystrophy 1e

Limb-Girdle Muscular Dystrophy-1d, Autosomal Dominant

Dystrophy, Muscular, Limb-Girdle, Autosomal Dominant, Type 1

Dystrophy, Muscular, Limb-Girdle, Type 1e

Autosomal Dominant Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant

Hereditary Late-Onset Parkinson Disease

Autosomal Dominant Late-Onset Parkinson Disease

Lopd

Hereditary Late Onset Parkinson Disease

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Limb-Girdle Muscular Dystrophy

Lgmd

Limb Girdle Muscular Dystrophy

Muscular Dystrophies, Limb-Girdle

Erb'S Muscular Dystrophy

Leyden-Mbius Muscular Dystrophy

Limb-Girdle Syndrome

Myopathic Limb-Girdle Syndrome

Limb Girdle

Muscular Dystrophy Limb-Girdle

Dystrophy, Muscular, Limb-Girdle

Lgmd - [Limb-Girdle Muscular Dystrophy]

Limb Girdle Muscle Dystrophy

Limb-Girdle Myopathy

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3

Lgmd1g

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

LGMDD3

Muscular Dystrophy, Limb-Girdle, Type 1g

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 3

Limb-Girdle Muscular Dystrophy, Type 1g

Muscular Dystrophy Limb-Girdle Type 1g

Hnrnpdl-Related Limb-Girdle Muscular Dystrophy D3

Hnrnpdl-Related Lgmd D3

Lgmd Type 1g

Limb-Girdle Muscular Dystrophy Type 1g

Limb-Girdle Muscular Dystrophy 1g

Dystrophy, Muscular, Limb-Girdle, Type 1g

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]

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Muscular Dystrophy, Limb-Girdle, Type 1h

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h

LGMD1H

Muscular Dystrophy Limb-Girdle Type 1h

Dystrophy, Muscular, Limb-Girdle, Type 1h

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2

Muscular Dystrophy, Limb-Girdle, Type 1f

Lgmd1f

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f

LGMDD2

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 2

Muscular Dystrophy Limb-Girdle Type 1f

Tnp03-Related Limb-Girdle Muscular Dystrophy D2

Lgmd Type 1f

Limb-Girdle Muscular Dystrophy Type 1f

Limb-Girdle Muscular Dystrophy 1f

Dystrophy, Muscular, Limb-Girdle, Type 1f

Neuronopathy, Distal Hereditary Motor, Type Iia

HMN2A

Hmn Iia

Neuropathy, Distal Hereditary Motor, Type Iia

Dhmn2a

Distal Hereditary Motor Neuronopathy Type 2a

Distal Hereditary Motor Neuropathy Type Iia

Neuronopathy, Distal Hereditary Motor, Type 2a

Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia

Charcot-Marie-Tooth Disease, Spinal, Iia

Autosomal Dominant Adult Spinal Muscular Atrophy Iia

Spinal Charcot-Marie-Tooth Disease Iia

Neuronopathy, Distal Hereditary Motor, 2a

Charcot-Marie-Tooth Disease Spinal Iia

Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia

Neuropathy, Motor, Distal, Hereditary, Type 2a

Fatal Infantile Hypertonic Myofibrillar Myopathy
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b

Muscular Dystrophy, Limb-Girdle, Type 2b

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e

Beta-Sarcoglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y

Muscular Dystrophy, Limb-Girdle, Type 3

Lgmd3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s

LGMDR2

Muscular Dystrophy, Limb-Girdle, Type 2s

Limb-Girdle Muscular Dystrophy Type 2b

Lgmd2e

Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency

Muscular Dystrophy, Limb-Girdle, Type 2e

Lgmd2s

Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency

Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency

Lgmd2y

Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine

Muscular Dystrophy, Limb-Girdle, Type 2y

Dysferlin-Related Limb-Girdle Muscular Dystrophy R2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Dysferlin-Related Lgmd R2

Lgmd Due To Dysferlin Deficiency

Lgmd Type 2b

Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency

Limb-Girdle Muscular Dystrophy 2b

Limb-Girdle Muscular Dystrophy, Type 2b

Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2

Dystrophy, Muscular, Limb-Girdle, Type 2b

Limb-Girdle Muscular Dystrophy, Type 2e

Myopathy, Myofibrillar, 2

Alpha-B Crystallinopathy

Myofibrillar Myopathy 2

MFM2

Myopathy, Myofibrillar, Alpha-B Crystallin-Related

Myopathy, Desmin-Related, Associated With Mutation In The Cryab Gene

Myopathy, Myofibrillar, With Or Without Cataract And/Or Cardiomyopathy

Alpha-B Crystallin-Related Late-Onset Myopathy

Alpha-B Crystallin-Related Late-Onset Distal Myopathy

Late-Onset Distal Crystallinopathy

Alpha-B Crystallinopathy With Cataract

Desmin-Related Myopathy With Cataract

Mfm Alpha-B Crystallin-Related

Myofibrillar Myopathy Alpha-B Crystallin-Related

Myofibrillar Myopathy With Or Without Cataract And/Or Cardiomyopathy

Myopathy Cardioskeletal Desmin-Related With Cataract

Myopathy Desmin-Related Associated With Mutation In The Cryab Gene

Myopathy, Cardioskeletal, Desmin-Related, With Cataract

Myopathy, Myofibrillar, Type 2

Myopathy

Muscular Diseases

Myopathies

Myopathy, Myofibrillar, 3

Myotilinopathy

Myofibrillar Myopathy 3

MFM3

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a

Lgmd1a

Muscular Dystrophy, Limb-Girdle, Type 1a

Myopathy, Myofibrillar, Myotilin-Related

Muscular Dystrophy, Limb-Girdle, Type 1, Formerly

Lgmd1, Formerly

Muscular Dystrophy, Limb-Girdle, Type 1a, Formerly

Lgmd1a, Formerly

Qualitative Or Quantitative Defects Of Myotilin

Limb-Girdle Muscular Dystrophy Due To Myotilin Deficiency

Distal Myotilinopathy

Lgmd1

Limb-Girdle Muscular Dystrophy 1a

Mfm Myotilin-Related

Muscular Dystrophy, Limb-Girdle, Type 1

Myopathy Myofibrillar Myotylin-Related

Myopathy, Myofibrillar, Type 3

Myopathy, Myofibrillar, 9, With Early Respiratory Failure

Hereditary Myopathy With Early Respiratory Failure

Hmerf

Myopathy, Proximal, With Early Respiratory Muscle Involvement

Edstrom Myopathy

Mfm-Titinopathy

MFM9

Mprm

Hereditary Inclusion Body Myopathy With Early Respiratory Failure

Hibm-Erf

Myofibrillar Myopathy-Titinopathy

Myofibrillar Myopathy With Early Respiratory Failure

Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant

Myofibrillar Myopathy 9

Myofibrillar Myopathy 9 With Early Respiratory Failure

Autosomal Dominant Distal Myopathy With Early Respiratory Failure

Proximal Myopathy With Early Respiratory Muscle Involvement

Hereditary Proximal Myopathy With Early Respiratory Failure

Admerf

Edström Myopathy

Hmerf-Erf

Myopathy, Myofibrillar, 1

Desmin-Related Myofibrillar Myopathy

Desmin-Related Myopathy

MFM1

Myopathy, Myofibrillar, Desmin-Related

Drm

Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy

Myofibrillar Myopathy 1

Desminopathy

Muscular Dystrophy, Limb-Girdle, Type 2r

Arrhythmogenic Right Ventricular Dysplasia, Familial, 7

Desminopathy, Primary

Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly

Arvd7, Formerly

Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly

Arvc7, Formerly

Inclusion Body Myopathy 1, Autosomal Dominant, Formerly

Ibm1, Formerly

Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly

Cmd1f And Lgmd1d, Formerly

Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy

Cdcd3, Formerly

Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly

Lgmd2r, Formerly

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r

Arrhythmogenic Right Ventricular Cardiomyopathy 7

Arvc7

Arvd7

Autosomal Dominant Inclusion Body Myopathy 1

Cdcd3

Cmd1f And Lgmd1d

Desminopathy Primary

Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d

Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy

Familial Arrhythmogenic Right Ventricular Dysplasia 7

Lgmd2r

Limb-Girdle Muscular Dystrophy 2r

Mfm Desmin-Related

Myopathy Myofibrillar Desmin-Related

Dystrophy, Muscular, Limb-Girdle, Type 2r

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q

Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Plectin Deficiency

Lgmd2q

Muscular Dystrophy, Limb-Girdle, Type 2q

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

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Myopathy, Spheroid Body

Spheroid Body Myopathy

Autosomal Dominant Spheroid Body Myopathy

SBM

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

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
Macaca mulatta DNAJB6 VGNC VGNC:81304
Felis catus DNAJB6 VGNC VGNC:78441
Bos taurus DNAJB6 VGNC VGNC:53635
Rattus norvegicus DNAJB6 RGD RGD:1308207
Canis familiaris DNAJB6 VGNC VGNC:51797
Mus musculus DNAJB6 MGD MGI:1344381