DNAJC6 DnaJ heat shock protein family (Hsp40) member C6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJC6provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member C6provided by HGNC
Primary source: HGNC:HGNC:15469
See related: Ensembl:ENSG00000116675 MIM:608375; AllianceGenome:HGNC:15469
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DJC6; PARK19
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]
Expression: Biased expression in brain (RPKM 55.4), adrenal (RPKM 6.4) and 3 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p31.3

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (65264749..65415871)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (65142745..65293848)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (65730432..65881554)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of Protease Cathepsin D and Upregulation of Pathologic alpha-Synuclein Mediate Paucity of DNAJC6-Induced Degeneration of Dopaminergic Neurons.
Title: Downregulation of Protease Cathepsin D and Upregulation of Pathologic α-Synuclein Mediate Paucity of DNAJC6-Induced Degeneration of Dopaminergic Neurons.
Neurodevelopmental defects and neurodegenerative phenotypes in human brain organoids carrying Parkinson's disease-linked DNAJC6 mutations.
Title: Neurodevelopmental defects and neurodegenerative phenotypes in human brain organoids carrying Parkinson's disease-linked DNAJC6 mutations.
Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene.
Title: Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene.
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Title: DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
Early onset Parkinson is associated with several SNPs and haplotypes of DNAJC6 gene.
Title: Haplotype Analysis on the Relationship of the DNAJC6 Gene with Early-Onset Parkinson's Disease Risk in a Chinese Population.
DNAJC6 mutations are not common causes of early onset Parkinson's disease in Chinese population
Title: DNAJC6 mutations are not common causes of early onset Parkinson's disease in Chinese Han population.
DNAJC6 mutations are associated with early-onset Parkinson's disease.
Title: DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.
DNAJC6 is up-regulated in hepatocellular carcinoma tissues and up-regulation of DNAJC6 expression predicts poor outcome in patients with HCC
Title: DNAJC6 promotes hepatocellular carcinoma progression through induction of epithelial-mesenchymal transition.
Missense mutations in DNAJC6 does not play a major role in PD in the Chinese population.
Title: DNAJ mutations are rare in Chinese Parkinson's disease patients and controls.
we did not detect any heterozygous or homozygous c.801-2A>G mutation in DNAJC6 in a cohort of Parkinson disease patients from southern Spain.
Title: Analysis of c.801-2A>G mutation in the DNAJC6 gene in Parkinson's disease in southern Spain.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Juvenile onset Parkinson disease 19A MedGen: C3809811 OMIM: 615528 GeneReviews: DNAJC6 Parkinson Disease	not available

EBI GWAS Catalog

Description
A genome-wide association study of the Protein C anticoagulant pathway. EBI GWAS Catalog EBI GWAS CatalogPubMed
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

DNAJC6__3749 (e-PCR)
- UniSTS:462875

D1S2366 (e-PCR)
- UniSTS:70944

SHGC-74940 (e-PCR)
- UniSTS:60461

AL034190 (e-PCR)
- UniSTS:94016

SHGC-74946 (e-PCR)
- UniSTS:60243

SHGC-142296 (e-PCR)
- UniSTS:171371

SHGC-150970 (e-PCR)
- UniSTS:173426

SHGC-74914 (e-PCR)
- UniSTS:57461

G16070 (e-PCR)
- UniSTS:59327

D1S2866 (e-PCR), detects polymorphism
- UniSTS:13014

D1S1927E (e-PCR)
- UniSTS:151269

RH79652 (e-PCR)
- UniSTS:87020

D1S2423 (e-PCR)
- UniSTS:21749

Clone Names

KIAA0473, MGC48436, MGC129914, MGC129915

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables clathrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables clathrin binding	ISS Inferred from Sequence or Structural Similarity more info
enables clathrin heavy chain binding	ISS Inferred from Sequence or Structural Similarity more info
enables heat shock protein binding	ISS Inferred from Sequence or Structural Similarity more info
enables histone H2AXY142 phosphatase activity	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine phosphatase activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine phosphatase activity, metal-dependent	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in clathrin coat disassembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in clathrin-dependent endocytosis	IBA Inferred from Biological aspect of Ancestor more info
involved_in clathrin-dependent endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in clathrin-dependent endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of clathrin coat assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of clathrin-dependent endocytosis	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle recycling	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle uncoating	IBA Inferred from Biological aspect of Ancestor more info
involved_in synaptic vesicle uncoating	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Component	Evidence Code	Pubs
located_in clathrin-coated vesicle	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extrinsic component of presynaptic endocytic zone membrane	IEA Inferred from Electronic Annotation more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic density	IBA Inferred from Biological aspect of Ancestor more info
is_active_in vesicle	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: auxilin

Names: DnaJ (Hsp40) homolog, subfamily B, member 6; DnaJ (Hsp40) homolog, subfamily C, member 6; putative tyrosine-protein phosphatase auxilin

NP_001243793.1

EC 3.1.3.48

NP_001243794.1

EC 3.1.3.48

NP_055602.1

EC 3.1.3.48

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_033843.1 RefSeqGene

Range

49850..156178

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001256864.2 → NP_001243793.1 auxilin isoform 1

See identical proteins and their annotated locations for NP_001243793.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC119800, BC109280, BX647203, DR002818

Consensus CDS

CCDS58004.1

UniProtKB/Swiss-Prot

O75061

Related

ENSP00000360108.4, ENST00000371069.5

Conserved Domains (3) summary

cd06257
Location:918 → 963

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...

pfam10409
Location:283 → 421

PTEN_C2; C2 domain of PTEN tumor-suppressor protein

cl26464
Location:562 → 829

Atrophin-1; Atrophin-1 family
NM_001256865.2 → NP_001243794.1 auxilin isoform 3

See identical proteins and their annotated locations for NP_001243794.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (3) with a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AC119800, AK296408, AL355487

Consensus CDS

CCDS58005.1

UniProtKB/Swiss-Prot

O75061

Related

ENSP00000263441.7, ENST00000263441.11

Conserved Domains (2) summary

cd06257
Location:848 → 893

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...

pfam10409
Location:213 → 351

PTEN_C2; C2 domain of PTEN tumour-suppressor protein
NM_014787.4 → NP_055602.1 auxilin isoform 2

See identical proteins and their annotated locations for NP_055602.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.

Source sequence(s)

AB007942, AC119800, AL355487, DC332732

Consensus CDS

CCDS30739.1

UniProtKB/Swiss-Prot

B7Z3V8, D3DQ65, D3DQ66, O75061, Q32M66, Q4G0K1, Q5T614, Q5T615

Related

ENSP00000378735.3, ENST00000395325.7

Conserved Domains (2) summary

cd06257
Location:861 → 906

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...

pfam10409
Location:226 → 364

PTEN_C2; C2 domain of PTEN tumour-suppressor protein