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

Also Known as DJC6; PARK19

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9829

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	29735704	GOA

Biological Process GO Annotation	Evidence	References	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

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 Set	/	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
Others	DNAJC6	NCBI