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  2. DNAJC5 - DnaJ heat shock protein family (Hsp40) member C5 Gene

DNAJC5 - DnaJ heat shock protein family (Hsp40) member C5 Gene

中文名称:DnaJ 热休克蛋白家族 (Hsp40) 成员 C5

种属: Homo sapiens

同用名: CSP; NCL; CLN4; CLN4B; DNAJC5A; mir-941-2; mir-941-3; mir-941-4; mir-941-5

基因 ID: 80331 | 基因类型: protein coding

关于 DNAJC5

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:63,895,126-63,936,011 (from NCBI)

This gene has 3 transcripts (splice variants), 281 orthologues, 20 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 26.3), esophagus (RPKM 19.9) and 25 other tissues.

功能概要

该基因是 J 蛋白家族的成员。 J 蛋白通过调节 70 kDa 热休克蛋白的 ATPase 活性在许多细胞过程中发挥作用。编码的蛋白质在膜运输和蛋白质折叠中发挥作用,并已被证明具有抗神经退行性的特性。已知编码的蛋白质在囊性纤维化和亨廷顿舞蹈病中发挥作用。该基因的假基因位于 8 号染色体的短臂上。[RefSeq 提供,2010 年 11 月]

This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]

DNAJC5 基因产物(1)

mRNA Protein Name
NM_025219.3 NP_079495.1 dnaJ homolog subfamily C member 5
基因本体论
  • 分子功能
  • 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
29997244 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
21820099 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

DNAJC5 蛋白结构

DnaJ

DnaJ: DnaJ domain (16 - 77)

  • 0
  • 100
  • 198 a.a.
蛋白主名 其他名称

dnaJ homolog subfamily C member 5

DnaJ (Hsp40) homolog, subfamily C, member 5

DNAJC5 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
DNAJC5 Q9H3Z4 ZDHHC17 Homo sapiens Q8IUH5 29997244
种属内
DNAJC5 Q9H3Z4 ZDHHC17 Homo sapiens Q8IUH5 29997244
种属内
DNAJC5 Q9H3Z4 ZDHHC17 Homo sapiens Q8IUH5 33961781
种属内
DNAJC5 Q9H3Z4 ZDHHC17 Homo sapiens Q8IUH5 29997244
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
Ceroid Lipofuscinosis, Neuronal, 4

Ceroid Lipofuscinosis, Neuronal, Parry Type

Cln4b Disease

Neuronal Ceroid Lipofuscinosis 4b

CLN4B

Autosomal Dominant Neuronal Ceroid Lipofuscinosis 4b

Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant

Adult Neuronal Ceroid Lipofuscinosis

CLN4

Ceroid Lipofuscinosis, Neuronal, 4 , Autosomal Dominant

Neuronal Ceroid Lipofuscinosis 4

Neuronal Ceroid Lipofuscinosis 4 Parry Type

Adult Neuronal Ceroid Lipofuscinosis 4b

Kuf'S Disease Type B

Kuf'S Disease, Autosomal Dominant

Cln4 Disease

Parry Disease

Ceroid Lipofuscinosis, Neuronal 4

Ceroid Lipofuscinosis, Neuronal, 4b , Autosomal Dominant

Kufs Disease Autosomal Dominant

Neuronal Ceroid Lipofuscinosis Parry Type

Ceroid Lipofuscinosis, Neuronal, 4, Parry Type

Lipofuscinosis, Ceroid, Neuronal, Type 4, Parry Type

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

Ceroid Lipofuscinosis, Neuronal, 6b

CLN4A

Neuronal Ceroid Lipofuscinosis 4a

CLN6B

Neuronal Ceroid Lipofuscinosis 6b

Autosomal Recessive Neuronal Ceroid Lipofuscinosis 4a

Cln4a Disease

Ceroid Lipofuscinosis, Neuronal, 4a , Autosomal Recessive

Adult Neuronal Ceroid Lipofuscinosis

Cln6 Disease Kufs Type A

Kufs Disease

Kufs Disease Autosomal Recessive

Kufs Disease, Autosomal Recessive

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

Ceroid Lipofuscinosis, Neuronal, 9

Neuronal Ceroid Lipofuscinosis 9

CLN9

Cln 9

Cln9 Disease

Ceroid Lipofuscinosis, Neuronal, 11

Neuronal Ceroid Lipofuscinosis 11

CLN11

Cln11 Disease

Grn-Related Neuronal Ceroid-Lipofuscinosis

Lipofuscinosis, Ceroid, Neuronal, Type 11

Ceroid Lipofuscinosis, Neuronal, 1

Neuronal Ceroid Lipofuscinosis 1

CLN1

Infantile Neuronal Ceroid Lipofuscinosis

Cln1 Disease

Santavuori-Haltia Disease

Ceroid Lipofuscinosis, Neuronal, 1, Variable Age At Onset

Neuronal Ceroid Lipofuscinosis 1 Variable Age Of Onset

Ceroid Lipofuscinosis Neuronal 1

Cln1 Variable Age At Onset

Infantile Batten Disease

Neuronal Ceroid Lipofuscinosis, Infantile

Hagberg-Santavuori Disease

Incl

Juvenile Neuronal Ceroid Lipofuscinosis With Granular Osmiophilic Deposits

Neuronal Ceroid Lipofuscinosis With Variable Age At Onset

Santavuori Disease

Lipofuscinosis, Ceroid, Neuronal, Type 1

Ceroid Lipofuscinosis, Neuronal 1, Infantile

Retinitis Pigmentosa 72

RP72

Retinitis Pigmentosa, Type 72

Progressive Myoclonus Epilepsy 3

Cln14 Disease

Epm3

Neuronal Ceroid Lipofuscinosis 14

Pme Type 3

Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency

Progressive Myoclonus Epilepsy Type 3

Epilepsy, Progressive Myoclonic 3

Plasmodium Malariae Malaria

Quartan Malaria

Malaria By Plasmodium Malariae

Nephrotic Syndrome Of Quartan Malaria

Malaria Nephrosis

Malarial Nephrosis

Nephrotic Syndrome In Malaria

Quartan Nephrosis

Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Northern Epilepsy

Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant

Epmr

Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type

Northern Epilepsy Syndrome

Epilepsy, Progressive, With Mental Retardation

Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant

Progressive Epilepsy With Mental Retardation, Northern Epilepsy

Cln8 Disease, Northern Epilepsy Variant

Ncl, Northern Epilepsy Variant

Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant

CLN8NE

Ceroid Lipofuscinosis, Neuronal, 8

Spinocerebellar Ataxia, Autosomal Recessive 7

SCAR7

Autosomal Recessive Spinocerebellar Ataxia 7

Spinocerebellar Ataxia Autosomal Recessive 7

Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia

Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia

Autosomal Recessive Spinocerebellar Ataxia Type 7

Spinocerebellar Ataxia, Autosomal Recessive, 7

Ataxia, Spinocerebellar, Autosomal Recessive, Type 7

Ceroid Lipofuscinosis, Neuronal, 3

Batten Disease

Juvenile Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis 3

CLN3

Jncl

Spielmeyer-Vogt Disease

Vogt-Spielmeyer Disease

Spielmeyer-Sjogren Disease

Cln3 Disease

Neuronal Ceroid Lipofuscinosis, Juvenile

Cln3 Disease, Juvenile

Spielmeyer Sjogren Disease

Vogt Spielmeyer Disease

Batten-Mayou Disease

Batten-Spielmeyer-Vogt Disease

Cln3-Related Neuronal Ceroid-Lipofuscinosis

Juvenile Batten Disease

Juvenile Cerebroretinal Degeneration

Classic Juvenile Ncl

Classic Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile Ncl

Lipofuscinosis, Ceroid, Neuronal, Type 3

Retinitis Pigmentosa 90

RP90

Retinitis Pigmentosa, Type 90

Ceroid Lipofuscinosis, Neuronal, 10

Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency

Neuronal Ceroid Lipofuscinosis 10

CLN10

Cathepsin D Deficiency

Congenital Neuronal Ceroid Lipofuscinosis

Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient

Cln10 Disease

Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient

Cln10 Disease, Adult

Cln10 Disease, Congenital

Cln10 Disease, Juvenile

Cln10 Disease, Late Infantile

Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient

Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis

Congenital Ncl

Lipofuscinosis, Ceroid, Neuronal, Type 10

Neuronal Ceroid Lipofuscinosis, Congenital

Plasmodium Vivax Malaria

Malaria, Vivax

Malaria By Plasmodium Vivax

Vivax Malaria

Malaria Vivax

Mucopolysaccharidosis, Type Iiia

Mucopolysaccharidosis Type Iiia

MPS3A

Mps Iiia

Sanfilippo Syndrome A

Heparan Sulfate Sulfatase Deficiency

Sulfamidase Deficiency

Heparan Sulfamidase Deficiency

Mpsiiia

Mucopolysaccharidosis Type 3a

Sanfilippo Syndrome Type A

Mucopolysaccharidosis Iii-A

Heparane Sulfamidase Deficiency

Mps 3a

Mucopoly-Saccharidosis Type 3a

Mps Iii-A

Mucopolysaccharidosis 3a

Mucopolysaccharidosis Iii

Malaria

Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis

CM

Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever

Paludism

Cameroon Fever

Ague

Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever

Plasmodiosis

Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria

Mucopolysaccharidosis Iii

Sanfilippo Syndrome

Mucopolysaccharidosis Type Iii

Mucopolysaccharidosis Type 3

Mps Iii

Mpsiii

Sanfilippo Disease

Heparan Sulfate Sulfatase Deficiency

Mucopolysaccharidosis, Mps-Iii

N-Sulphoglucosamine Sulphohydrolase Deficiency

Naglu Deficiency

Sanfilippo'S Syndrome

Mucopoly-Saccharidosis Type 3

Mps3

Sanfilippos Syndrome

Mucopolysaccharidosis Type Iiia

Mps Iii B

Progressive Myoclonus Epilepsy

Pme

Progressive Myoclonic Epilepsy

Myoclonic Epilepsies, Progressive

Unverricht-Lundborg Syndrome

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

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

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 DNAJC5 VGNC VGNC:107787
Rattus norvegicus DNAJC5 RGD RGD:620516
Felis catus DNAJC5 VGNC VGNC:80084
Mus musculus DNAJC5 MGD MGI:892995