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

Gene ID: 9829, updated on 24-Nov-2020

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
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Genomic context

See DNAJC6 in Genome Data Viewer
Location:
1p31.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (65264749..65415871)
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 Sharpr-MPRA regulatory region 12103 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of the Protein C anticoagulant pathway.
GeneReviews: Not available
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available
Parkinson disease 19a, juvenile-onset
MedGen: C3809811 OMIM: 615528 GeneReviews: Not available
Compare labs

Pathways from PubChem

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
 
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)

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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
    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, ENST00000371069.5
    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
    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 Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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