DNAJC13 - DnaJ heat shock protein family (Hsp40) member C13 Gene

中文名称：DnaJ 热休克蛋白家族 (Hsp40) 成员 C13

种属: Homo sapiens

同用名: RME8; PARK21

基因 ID: 23317 | 基因类型: protein coding

关于 DNAJC13

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:132,417,502-132,539,032 (from NCBI)

This gene has 9 transcripts (splice variants), 195 orthologues, 20 paralogues and is associated with 1 phenotype. Ubiquitous expression in thyroid (RPKM 12.4), endometrium (RPKM 10.1) and 25 other tissues.

功能概要

该基因编码 Dnaj 蛋白家族的一个成员，该家族的成员通过与热休克蛋白结合并刺激 ATP 水解，充当伴侣热休克蛋白的共同伴侣。编码的蛋白质与热休克蛋白 Hsc70 相关联，并在网格蛋白介导的内吞作用中发挥作用。它还可能通过与其他蛋白质 (包括分选连接蛋白 SNX1) 的结合参与胞吞后转运机制。该基因的突变与帕金森病有关。[RefSeq 提供，2016 年 6 月]

This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with Other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016]

DNAJC13 基因产物(2)

mRNA	Protein	Name
NM_001329126.2	NP_001316055.1	dnaJ homolog subfamily C member 13 isoform 1
NM_015268.4	NP_056083.3	dnaJ homolog subfamily C member 13 isoform 2

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 protein binding	IPI IPI: 通过物理相互作用推断	24643499	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in endosome organization	IMP IMP: 通过突变表型推断	24643499	GOA
involved in regulation of early endosome to late endosome transport	IMP IMP: 通过突变表型推断	18256511	GOA
involved in regulation of early endosome to recycling endosome transport	IMP IMP: 通过突变表型推断	18256511	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of WASH complex	IDA IDA: 通过直接分析推断	24643499	GOA
located in early endosome membrane	IDA IDA: 通过直接分析推断	18256511	GOA
located in endosome membrane	IDA IDA: 通过直接分析推断	24643499	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

DNAJC13 蛋白结构

DUF4339

DnaJ

0
400
800
1200
1600
2000
2243 a.a.

蛋白主名

其他名称

dnaJ homolog subfamily C member 13

DnaJ (Hsp40) homolog, subfamily C, member 13

关联疾病

疾病名称

别名

Hereditary Late-Onset Parkinson Disease

Autosomal Dominant Late-Onset Parkinson Disease	Lopd
Hereditary Late Onset Parkinson Disease

Essential Tremor

Benign Essential Tremor	Familial Tremor
Hereditary Essential Tremor	Essential Hereditary Tremor
Shaky Hand Syndrome	Benign Essential Tremor Syndrome
Tremor Hereditary Essential	Essential Tremor, Susceptibility To
Tremor, Hereditary Essential

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

Parkinson Disease 21

PARK21	Parkinson'S Disease 21
Parkinson Disease, Type 21

Parkinsonism With Spasticity, X-Linked

X-Linked Parkinsonism-Spasticity Syndrome	XPDS
X-Linked Parkinsonism With Spasticity

Chronic Tic Disorder

Chronic Motor Or Vocal Tic Disorder	Tic Disorders
Tic Disorder	Tic Disorder Nos
Tic Nos	Tic Spasm Nos

Tremor, Hereditary Essential, 3

ETM3	Essential Tremor 3
Essential Tremor, Hereditary, 3	Hereditary Essential Tremor 3

Juvenile-Onset Parkinson'S Disease

Juvenile-Onset Parkinson Disease

Early-Onset Parkinson'S Disease

Early-Onset Parkinson Disease

Kufor-Rakeb Syndrome

Park9	Krppd
KRS	Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia
Autosomal Recessive Parkinson Disease 9	Parkinson Disease 9
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset	Autosomal Recessive Juvenile Onset Parkinson Disease 9
Parkinson Disease Type 9	Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia
Park 9	Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Cln12 Disease	Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis
Parkinson Disease Autosomal Recessive 9

Parkinson Disease 15, Autosomal Recessive Early-Onset

Parkinsonian-Pyramidal Syndrome	Pallidopyramidal Syndrome
Parkinson Disease 15, Autosomal Recessive	PARK15
Pkps	Pallido-Pyramidal Syndrome
Parkinson'S Disease 15	Autosomal Recessive Early-Onset Parkinson Disease 15
Autosomal Recessive Early-Onset Parkinson'S Disease 15	Pallido-Pyramidal Disease
Parkinson Disease 15	Parkinson Disease 15 Autosomal Recessive
Pps	Parkinson Disease, Type 15

Movement Disease

Movement Disorders

Movement Disorder

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Dementia, Lewy Body

Lewy Body Dementia	Lewy Body Disease
Diffuse Lewy Body Disease	Dementia With Lewy Bodies
DLB	Autosomal Dominant Diffuse Lewy Body Disease
Cortical Lewy Body Disease	Dementia, Lewy Body, Susceptibility To
Lewy Body Dementia, Susceptibility To	Senile Dementia Of The Lewy Body Type
Dementia Of The Lewy Body Type	Lbd
Diffuse Lewy Body Disease With Gaze Palsy	Dysphasic Dementia Hereditary
Lewy Body Type Senile Dementia	Lewy Body Variant Of Alzheimer Disease
Lewy Bodies	Lewy Body
Dlbd - [Diffuse Lewy Body Disease]	Clbd - [Cortical Lewy Body Disease]

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03876	DNAJC13 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	DNAJC13	VGNC	VGNC:84191
Mus musculus	DNAJC13	MGD	MGI:2676368
Rattus norvegicus	DNAJC13	RGD	RGD:1308046
Felis catus	DNAJC13	VGNC	VGNC:102691
Canis familiaris	DNAJC13	VGNC	VGNC:52873
Bos taurus	DNAJC13	VGNC	VGNC:53532

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

DNAJC13 - DnaJ heat shock protein family (Hsp40) member C13 Gene

关于 DNAJC13

功能概要

DNAJC13 基因产物(2)

DNAJC13 蛋白结构

关联疾病

直系同源

热门区域

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DNAJC13 - DnaJ heat shock protein family (Hsp40) member C13 Gene

关于 DNAJC13

功能概要

DNAJC13 基因产物(2)

DNAJC13 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

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Z