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  2. DNAJB1 - DnaJ heat shock protein family (Hsp40) member B1 Gene

DNAJB1 - DnaJ heat shock protein family (Hsp40) member B1 Gene

中文名称:DnaJ 热休克蛋白家族 (Hsp40) 成员 B1

种属: Homo sapiens

同用名: Hdj1; Sis1; HSPF1; Hsp40; RSPH16B

基因 ID: 3337 | 基因类型: protein coding

关于 DNAJB1

Cytogenetic location: 19p13.12 Genomic coordinates (GRCh38): 19:14,514,769-14,560,391 (from NCBI)

This gene has 25 transcripts (splice variants), 425 orthologues, 11 paralogues and is associated with 55 phenotypes. Ubiquitous expression in esophagus (RPKM 87.8), adrenal (RPKM 84.6) and 24 other tissues.

功能概要

该基因编码 DnaJ 或 HSP40 (热休克蛋白 40 kD) 蛋白质家族的成员。 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。编码的蛋白质是一种分子伴侣,可刺激 HSP70 热休克蛋白的 ATP 酶活性,以促进蛋白质折叠并防止错误折叠的蛋白质聚集。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 9 月]

This gene encodes a member of the DnaJ or HSP40 (heat shock protein 40 kD) family of proteins. 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. The encoded protein is a molecular chaperone that stimulates the ATPase activity of HSP70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

DNAJB1 基因产物(7)

mRNA Protein Name
XM_011527956.4 XP_011526258.1 dnaJ homolog subfamily B member 1 isoform X1
NM_006145.3 NP_006136.1 dnaJ homolog subfamily B member 1 isoform 1
NM_001300914.2 NP_001287843.1 dnaJ homolog subfamily B member 1 isoform 2
NM_001313964.2 NP_001300893.1 dnaJ homolog subfamily B member 1 isoform 2
XM_047438746.1 XP_047294702.1 dnaJ homolog subfamily B member 1 isoform X1
XM_006722733.3 XP_006722796.1 dnaJ homolog subfamily B member 1 isoform X1
XM_047438745.1 XP_047294701.1 dnaJ homolog subfamily B member 1 isoform X1

DNAJB1 蛋白结构

DnaJ

DnaJ: DnaJ domain (4 - 65)

DnaJ_C

DnaJ_C: DnaJ C terminal domain (253 - 326)

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

dnaJ homolog subfamily B member 1

DnaJ (Hsp40) homolog, subfamily B, member 1

dnaJ protein homolog 1

heat shock 40 kDa protein 1

human DnaJ protein 1

radial spoke 16 homolog B

重组 DNAJB1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70331 HSP40/DNAJB1 Protein, Human (His) P25685 (G2-I340) ≥95%

关联疾病

疾病名称 别名
Fibrolamellar Carcinoma

Fibrolamellar Hepatocellular Carcinoma

Fhcc

Fibrolamellar Hepatocarcinoma

Hepatocellular Carcinoma, Fibrolamellar

Oncocytic Hepatocellular Tumor

Eosinophilic Glassy Cell Hepatoma

Eosinophilic Hepatocellular Carcinoma With Lamellar Fibrosis

Fl-Hcc

Fibrolamellar Oncocytic Hepatoma

Hepatocellular Carcinoma With Increased Stromal Fibrosis

Polygonal Cell Hepatocellular Carcinoma With Fibrous Stroma

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Transvestism

Dual-Role Transvestism

Fetishistic Transvestism

Cross Dresser

Transvestic Fetishism

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Polyhydramnios
Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Creutzfeldt-Jakob Disease

Variant Creutzfeldt-Jakob Disease

CJD

Bovine Spongiform Encephalopathy

Vcjd

Inherited Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob Disease, Familial

Creutzfeldt Jakob Disease

Creutzfeldt-Jacob Disease

Creutzfeldt Jacob Disease

Sporadic Creutzfeldt-Jakob Disease

Encephalopathy, Bovine Spongiform

Creutzfeldt-Jakob Disease, Variant, Resistance To

Creutzfeldt-Jakob Disease, Variant

Creutzfeldt Jacob Syndrome

Jakob-Creutzfeldt Disease

Subacute Spongiform Encephalopathy

Transmissible Virus Dementia

New Variant Of Cjd

Nv-Cjd

Variant Cjd

Variant Creutzfeldt-Jacob Disease

Sporadic Cjd

Inherited Cjd

Acquired Creutzfeldt-Jakob Disease

Variant Mcj

Encephalopathy Bovine Spongiform

Familial Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob Syndrome

New Variant Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob Disease, Sporadic

Acquired Cjd

Scjd - [Sporadic Creutzfeldt-Jakob Disease]

Idiopathic Creutzfeldt-Jakob Disease

Creutzfeld-Jakob Disease Nos

Vcjd - [Variant Creutzfeldt-Jakob Disease]

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Spinal Muscular Atrophy

Sma

5q Sma

Proximal Sma

Sma-Associated Sma

Spinal Amyotrophies

Spinal Amyotrophy

Spinal Muscle Degeneration

Spinal Muscle Wasting

Muscular Atrophy Spinal

Atrophy, Muscular, Spinal

Hereditary Motor Neuronopathy

Progressive Muscular Atrophy

Sma - [Spinal Muscular Atrophy]

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

Craniotubular Dysplasia, Ikegawa Type

CTDI

Craniotubular Dysplasia Ikegawa Type

Doid:0112340

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Kennedy Disease

Sbma

Spinal And Bulbar Muscular Atrophy

Kennedy'S Disease

X-Linked Spinal And Bulbar Muscular Atrophy

SMAX1

Kd

Kennedy Spinal And Bulbar Muscular Atrophy

Spinobulbar Muscular Atrophy

Bulbospinal Muscular Atrophy, X-Linked

Bulbospinal Neuronopathy, X-Linked Recessive

Xbsn

Spinal And Bulbar Muscular Atrophy Of Kennedy

Bulbospinal Muscular Atrophy

X-Linked Bulbospinal Amyotrophy

Bulbo-Spinal Atrophy, X-Linked

Spinal Bulbar Muscular Atrophy

X-Linked Bulbo-Spinal Atrophy

X-Linked Spinal Bulbar Muscular Atrophy

X-Linked Bsma

X-Linked Bulbospinal Muscular Atrophy

Spinal And Bulbar Muscular Atrophy X-Linked 1

Bulbospinal Muscular Atrophy X-Linked

Bulbospinal Neuronopathy X-Linked Recessive

Kennedy Disease)

Kennedy Syndrome

Atrophy, Muscular, Spinal And Bulbar, Kennedy Type

Atrophy, Muscular, Spinobulbar

Bulbospinal Neuronopathy

Mixed Fibrolamellar Hepatocellular Carcinoma
Retinitis Pigmentosa 58

RP58

Retinitis Pigmentosa, Type 58

Craniodiaphyseal Dysplasia

Schaefer Stein Oshman Syndrome

CDD

Craniodiaphyseal Dysplasia, Dominant

Dominantly Inherited Craniodiaphyseal Dysplasia

Autosomal Dominant Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Dominant

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
Felis catus DNAJB1 VGNC VGNC:78440
Rattus norvegicus DNAJB1 RGD RGD:1304725
Macaca mulatta DNAJB1 VGNC VGNC:109616
Canis familiaris DNAJB1 VGNC VGNC:54594
Mus musculus DNAJB1 MGD MGI:1931874
Others DNAJB1 NCBI