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

Gene ID: 9829, updated on 5-Mar-2024

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
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Genomic context

See DNAJC6 in Genome Data Viewer
Location:
1p31.3
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (65264749..65415871)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (65142745..65293848)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (65730432..65881554)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak272 silencer Neighboring gene mitochondrial ribosomal protein S21 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:65605473-65606012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 964 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 965 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:65614416-65615134 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:65615135-65615853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1141 Neighboring gene NANOG hESC enhancer GRCh37_chr1:65619207-65619708 Neighboring gene ribosomal protein S29 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1143 Neighboring gene adenylate kinase 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 969 Neighboring gene uncharacterized LOC102724416 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 970 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:65764980-65765192 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:65769278-65769456 Neighboring gene uncharacterized LOC112268227 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 13 Neighboring gene Sharpr-MPRA regulatory region 12103 Neighboring gene H3K27ac hESC enhancers GRCh37_chr1:65885665-65886197 and GRCh37_chr1:65886198-65886731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1144 Neighboring gene Sharpr-MPRA regulatory region 13002 Neighboring gene RNA, U2 small nuclear 15, pseudogene Neighboring gene leptin receptor overlapping transcript Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:65933067-65933623 Neighboring gene leptin receptor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66019858-66020504 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66029333-66029958 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:66029959-66030582 Neighboring gene small nucleolar RNA U13

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Juvenile onset Parkinson disease 19A
MedGen: C3809811 OMIM: 615528 GeneReviews: DNAJC6 Parkinson Disease
Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
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 dephosphorylation IEA
Inferred from Electronic Annotation
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

Preferred Names
putative tyrosine-protein phosphatase auxilin
Names
DnaJ (Hsp40) homolog, subfamily B, member 6
DnaJ (Hsp40) homolog, subfamily C, member 6
auxilin
NP_001243793.1
NP_001243794.1
NP_055602.1

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

  1. NG_033843.1 RefSeqGene

    Range
    49850..156178
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256864.2NP_001243793.1  putative tyrosine-protein phosphatase 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:918963
    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:283421
    PTEN_C2; C2 domain of PTEN tumor-suppressor protein
    cl26464
    Location:562829
    Atrophin-1; Atrophin-1 family
  2. NM_001256865.2NP_001243794.1  putative tyrosine-protein phosphatase 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:848893
    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:213351
    PTEN_C2; C2 domain of PTEN tumour-suppressor protein
  3. NM_014787.4NP_055602.1  putative tyrosine-protein phosphatase 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:861906
    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:226364
    PTEN_C2; C2 domain of PTEN tumour-suppressor protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    65264749..65415871
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    65142745..65293848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)