DNAJC6 - DnaJ heat shock protein family (Hsp40) member C6 Gene

中文名称：DnaJ 热休克蛋白家族 (Hsp40) 成员 C6

种属: Homo sapiens

同用名: DJC6; PARK19

基因 ID: 9829 | 基因类型: protein coding

关于 DNAJC6

Cytogenetic location: 1p31.3 Genomic coordinates (GRCh38): 1:65,264,749-65,415,871 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in brain (RPKM 55.4), adrenal (RPKM 6.4) and 3 other tissues.

功能概要

DNAJC6 属于进化上保守的 DNAJ/HSP40 蛋白家族，它通过刺激 ATP 酶活性来调节分子伴侣活性。 DNAJ 蛋白可能有多达 3 个不同的结构域：一个由 70 个氨基酸组成的保守 J 结构域，通常位于 N 末端，一个富含甘氨酸/苯丙氨酸 (G/F) 的区域，以及一个富含半胱氨酸的结构域，其中包含 4 个类似于锌的基序手指域 (Ohtsuka 和 Hata，2000 [PubMed 11147971]) 。[OMIM 提供，2008 年 3 月]

DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008]

DNAJC6 基因产物(3)

mRNA	Protein	Name
NM_001256864.2	NP_001243793.1	putative tyrosine-protein phosphatase auxilin isoform 1
NM_001256865.2	NP_001243794.1	putative tyrosine-protein phosphatase auxilin isoform 3
NM_014787.4	NP_055602.1	putative tyrosine-protein phosphatase auxilin isoform 2

基因本体论

分子功能
生物过程

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	29735704	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in clathrin-dependent endocytosis	IMP IMP: 通过突变表型推断	18489706	GOA
involved in intracellular transport	IMP IMP: 通过突变表型推断	18489706	GOA
involved in regulation of clathrin coat assembly	IMP IMP: 通过突变表型推断	18489706	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

DNAJC6 蛋白结构

PTEN_C2

DnaJ

0
200
400
600
800
913 a.a.

蛋白主名

其他名称

putative tyrosine-protein phosphatase auxilin

DnaJ (Hsp40) homolog, subfamily B, member 6

关联疾病

疾病名称

别名

Parkinson Disease 19a, Juvenile-Onset

Parkinson Disease 19b, Early-Onset	Juvenile Onset Parkinson Disease 19a
PARK19A	Park19, Formerly
Parkinson'S Disease 19a	Juvenile Onset Parkinson'S Disease 19a
Park19	PARK19B
Parkinson Disease 19, Juvenile-Onset

Atypical Juvenile Parkinsonism

Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus

Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	ACPHD
Combined Cerebellar And Peripheral Ataxia-Deafness-Diabetes Mellitus Syndrome	Combined Cerebellar And Peripheral Ataxia-Hearing Loss-Diabetes Mellitus Syndrome

Parkinson Disease 2, Autosomal Recessive Juvenile

Young-Onset Parkinson Disease	PARK2
Pdj	Autosomal Recessive Juvenile Parkinson Disease 2
Epdf	Parkinson Disease, Juvenile, Type 2
Parkinson'S Disease 2	Autosomal Recessive Juvenile Parkinson Disease
Early-Onset Parkinson Disease	Parkinson Disease 2
Parkinson Disease, Juvenile, Autosomal Recessive	Parkinsonism, Early-Onset, With Diurnal Fluctuation
Autosomal Recessive Juvenile Parkinson'S Disease 2	Jp
Juvenile Parkinsonism	Parkinson Disease Autosomal Recessive, Early Onset
Parkinsonism, Early Onset, With Diurnal Fluctuation	Yopd
Autosomal Recessive Early-Onset Parkinson Disease Type 2	Chromosome 6-Linked Autosomal Recessive Parkinsonism
Early-Onset Parkinsonism With Diurnal Fluctuation	Parkinsonism Young Adult Onset
Parkinson Disease, Type 2	Parkinsonism, Juvenile

Parkinson Disease 21

PARK21	Parkinson'S Disease 21
Parkinson Disease, Type 21

Juvenile-Onset Parkinson'S Disease

Juvenile-Onset Parkinson Disease

Early-Onset Parkinson'S Disease

Early-Onset Parkinson Disease

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 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

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Cowden Syndrome 1

Bannayan-Riley-Ruvalcaba Syndrome	Pten Hamartoma Tumor Syndrome
Lhermitte-Duclos Disease	Bannayan-Zonana Syndrome
Phts	Riley-Smith Syndrome
Bzs	Ruvalcaba-Myhre-Smith Syndrome
Multiple Hamartoma Syndrome	Rmss
Brrs	Dysplastic Gangliocytoma Of The Cerebellum
CWS1	Cs
Cd	Mham
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor	Macrocephaly Multiple Lipomas And Hemangiomata
Bannayan-Ruvalcaba-Riley Syndrome	Myhre-Riley-Smith Syndrome
LDD	Cerebelloparenchymal Disorder Vi
Hamartoma Syndrome, Multiple	Bbrs
Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata	Macrocephaly, Multiple Lipomas, And Hemangiomata
Macrocephaly Pseudopapilledema And Multiple Hemangiomas	Ruvalcaba -Myhre-Smith Syndrome
Ruvalcaba-Myhre Syndrome	Cowden Disease
Macrocephaly Pseudopapilledema And Multiple Hemangiomata	Cerebellar Granule Cell Hypertrophy And Megalencephaly
Cpd6	Pten Hamartoma Tumor Syndromes
Cowden Syndrome, Type 1

Movement Disease

Movement Disorders

Movement Disorder

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]

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

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-RS03887	DNAJC6 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	DNAJC6	RGD	RGD:1309900
Bos taurus	DNAJC6	VGNC	VGNC:55167
Canis familiaris	DNAJC6	VGNC	VGNC:53346
Macaca mulatta	DNAJC6	VGNC	VGNC:99895
Felis catus	DNAJC6	VGNC	VGNC:80187
Mus musculus	DNAJC6	MGD	MGI:1919935

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。	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）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4