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

Gene ID: 9829, updated on 7-Dec-2018

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
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

Genomic context

See DNAJC6 in Genome Data Viewer
Location:
1p31.3
Exon count:
21
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (65264694..65415869)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (65720133..65881552)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein S21 pseudogene 1 Neighboring gene ribosomal protein S29 pseudogene 7 Neighboring gene adenylate kinase 4 Neighboring gene uncharacterized LOC102724416 Neighboring gene uncharacterized LOC112268227 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 13 Neighboring gene RNA, U2 small nuclear 15, pseudogene Neighboring gene leptin receptor overlapping transcript Neighboring gene leptin receptor Neighboring gene polypeptide N-acetylgalactosaminyltransferase 11 pseudogene

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Parkinson disease 19a, juvenile-onset
MedGen: C3809811 OMIM: 615528 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
    Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
  • Clathrin-mediated endocytosis, organism-specific biosystem (from REACTOME)
    Clathrin-mediated endocytosis, organism-specific biosystemClathrin-mediated endocytosis (CME) is one of a number of process that control the uptake of material from the plasma membrane, and leads to the formation of clathrin-coated vesicles (Pearse et al, 1...
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • Lysosome Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
    Lysosome Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
  • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
    trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0473, MGC48436, MGC129914, MGC129915

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
clathrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein tyrosine phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
clathrin coat disassembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
clathrin-dependent endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of clathrin-dependent endocytosis IEA
Inferred from Electronic Annotation
more info
 
synaptic vesicle uncoating IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
synaptic vesicle uncoating ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
presynapse IEA
Inferred from Electronic Annotation
more info
 
vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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
    5001..156176
    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, ENST00000371069.4
    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_001256865.1NP_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, DC332732
    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_014787.3NP_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
    O75061
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    65264694..65415869
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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