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

Homo sapiens

Also known as DJC6; PARK19

Gene ID: 9829 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29735704	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in clathrin-dependent endocytosis	IMP IMP: Inferred from mutant phenotype	18489706	GOA
involved in intracellular transport	IMP IMP: Inferred from mutant phenotype	18489706	GOA
involved in regulation of clathrin coat assembly	IMP IMP: Inferred from mutant phenotype	18489706	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

DNAJC6 Protein Structure

PTEN_C2

DnaJ

0
200
400
600
800
913 a.a.

Protein Preferred Names

Protein Names

putative tyrosine-protein phosphatase auxilin

DnaJ (Hsp40) homolog, subfamily B, member 6

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03887	DNAJC6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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