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DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 [ Homo sapiens (human) ]

Gene ID: 23317, updated on 17-Jun-2019

Summary

Official Symbol
DNAJC13provided by HGNC
Official Full Name
DnaJ heat shock protein family (Hsp40) member C13provided by HGNC
Primary source
HGNC:HGNC:30343
See related
Ensembl:ENSG00000138246 MIM:614334
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
RME8; PARK21
Summary
This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016]
Expression
Ubiquitous expression in thyroid (RPKM 12.4), endometrium (RPKM 10.1) and 25 other tissues See more
Orthologs

Genomic context

See DNAJC13 in Genome Data Viewer
Location:
3q22.1
Exon count:
57
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (132417502..132539032)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (132136361..132257876)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene g2/M phase-specific E3 ubiquitin-protein ligase-like Neighboring gene NIP7 pseudogene 2 Neighboring gene NPHP3-ACAD11 readthrough (NMD candidate) Neighboring gene acyl-CoA dehydrogenase family member 11 Neighboring gene atypical chemokine receptor 4 Neighboring gene heat shock protein family A (Hsp70) member pseudogene 19

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25863, KIAA0678

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
osteoblast differentiation HDA PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
receptor-mediated endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of early endosome to late endosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of early endosome to recycling endosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with WASH complex IDA
Inferred from Direct Assay
more info
PubMed 
azurophil granule membrane TAS
Traceable Author Statement
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
early endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome HDA PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
lysosomal membrane HDA PubMed 
membrane HDA PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
secretory granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
dnaJ homolog subfamily C member 13
Names
DnaJ (Hsp40) homolog, subfamily C, member 13
DnaJ domain-containing protein RME-8
required for receptor-mediated endocytosis 8

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_051045.1 RefSeqGene

    Range
    5134..126506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329126.2NP_001316055.1  dnaJ homolog subfamily C member 13 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC020632, AC020633, AC026374, AK023168
    UniProtKB/TrEMBL
    B3KN02
    Conserved Domains (2) summary
    pfam00226
    Location:13061359
    DnaJ; DnaJ domain
    pfam14237
    Location:9811025
    DUF4339; Domain of unknown function (DUF4339)
  2. NM_015268.4NP_056083.3  dnaJ homolog subfamily C member 13 isoform 2

    See identical proteins and their annotated locations for NP_056083.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    AC020633, AI189887, AY779857
    Consensus CDS
    CCDS33857.1
    UniProtKB/Swiss-Prot
    O75165
    Related
    ENSP00000260818.6, ENST00000260818.11
    Conserved Domains (2) summary
    pfam00226
    Location:13011354
    DnaJ; DnaJ domain
    pfam14237
    Location:9761020
    DUF4339; Domain of unknown function (DUF4339)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    132417502..132539032
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006036.1XP_016861525.1  dnaJ homolog subfamily C member 13 isoform X1

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