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

Also Known as RME8; PARK21

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23317

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24643499	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in endosome organization	IMP IMP: Inferred from mutant phenotype	24643499	GOA
involved in regulation of early endosome to late endosome transport	IMP IMP: Inferred from mutant phenotype	18256511	GOA
involved in regulation of early endosome to recycling endosome transport	IMP IMP: Inferred from mutant phenotype	18256511	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of WASH complex	IDA IDA: Inferred from direct assay	24643499	GOA
located in early endosome membrane	IDA IDA: Inferred from direct assay	18256511	GOA
located in endosome membrane	IDA IDA: Inferred from direct assay	24643499	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNAJC13 Protein Structure

DUF4339

DnaJ

0
400
800
1200
1600
2000
2243 a.a.

Protein Preferred Names	Protein Names
dnaJ homolog subfamily C member 13	DnaJ (Hsp40) homolog, subfamily C, member 13

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03876	DNAJC13 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	DNAJC13	NCBI