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

Gene ID: 23317, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:30343
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
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Genomic context

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See DNAJC13 in Genome Data Viewer
Location:
3q22.1
Exon count:
57
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (132417502..132539032)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (135161977..135283543)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (132136346..132257876)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909435 Neighboring gene G2E3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14740 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14741 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:132136675-132137210 Neighboring gene NIP7 pseudogene 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:132190883-132191410 Neighboring gene uncharacterized LOC124909436 Neighboring gene NPHP3-ACAD11 readthrough (NMD candidate) Neighboring gene acyl-CoA dehydrogenase family member 11 Neighboring gene atypical chemokine receptor 4

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Receptor-mediated Endocytosis 8 Utilizes an N-terminal Phosphoinositide-binding Motif to Regulate Endosomal Clathrin Dynamics. Xhabija B, et al. J Biol Chem, 2015 Aug 28. PMID 26134565, Free PMC Article
  2. DNAJC13 genetic variants in parkinsonism. Gustavsson EK, et al. Mov Disord, 2015 Feb. PMID 25393719
  3. DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients. Lorenzo-Betancor O, et al. Eur J Neurol, 2015 Sep. PMID 26278106, Free PMC Article
  4. Clinical, positron emission tomography, and pathological studies of DNAJC13 p.N855S Parkinsonism. Appel-Cresswell S, et al. Mov Disord, 2014 Nov. PMID 25186792
  5. VPS35 and DNAJC13 disease-causing variants in essential tremor. Rajput A, et al. Eur J Hum Genet, 2015 Jun. PMID 25118025, Free PMC Article

See all (105) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.
    Title: Association study of DNAJC13, UCHL1, HTRA2, GIGYF2, and EIF4G1 with Parkinson's disease.
  2. Receptor-mediated endocytosis 8 (RME-8)/DNAJC13 is a novel positive modulator of autophagy and stabilizes cellular protein homeostasis.
    Title: Receptor-mediated endocytosis 8 (RME-8)/DNAJC13 is a novel positive modulator of autophagy and stabilizes cellular protein homeostasis.
  3. This study showed the DNAJC13 mutation screening in patients with Parkinson's disease.
    Title: DNAJC13 mutation screening in patients with Parkinson's disease from South Italy.
  4. Parkinson's disease-linked DNAJC13 mutation perturbs multi-directional endosomal trafficking, resulting in the aberrant endosomal retention of alpha-synuclein, which might predispose to the neurodegenerative process that leads to Parkinson's disease.
    Title: Parkinson's disease-linked DNAJC13 mutation aggravates alpha-synuclein-induced neurotoxicity through perturbation of endosomal trafficking.
  5. There is a possibility that specific DNAJC13 variants may play a minor role in PD susceptibility.
    Title: Analysis of DNAJC13 mutations in French-Canadian/French cohort of Parkinson's disease.
  6. Mutations in exon 24 of DNAJC13 are not a common cause of Parkinson or Lewy body disease among Caucasian populations.
    Title: DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients.
  7. DNAJC13 c.2564A>G (p.(N855S)) was identified in two patients with essential tremor.
    Title: VPS35 and DNAJC13 disease-causing variants in essential tremor.
  8. These results further highlight the critical role for phosphatidylinositol 3-phosphate in the RME-8-mediated organizational control of various endosomal activities, including retrograde transport.
    Title: Receptor-mediated Endocytosis 8 Utilizes an N-terminal Phosphoinositide-binding Motif to Regulate Endosomal Clathrin Dynamics.
  9. Although the contribution of rare genetic variation in DNAJC13 to parkinsonisms remains to be further elucidated, this study suggests that, in addition to p.N855S, other rare variants might affect disease susceptibility
    Title: DNAJC13 genetic variants in parkinsonism.
  10. Re-expression of miR-193b in breast cancer cell lines decreased DNAJC13 (HPS40) and RAB22A expression, providing a mechanism by which mir193-b acts as a tumor suppressor.
    Title: Tumor suppressive microRNA-193b promotes breast cancer progression via targeting DNAJC13 and RAB22A.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ25863, KIAA0678

Gene Ontology Provided by GOA

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

General protein information

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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)

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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_051045.1 RefSeqGene

    Range
    4976..126506
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001329126.2 → NP_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:1306 → 1359
    DnaJ; DnaJ domain
    pfam14237
    Location:981 → 1025
    DUF4339; Domain of unknown function (DUF4339)

  2. NM_015268.4 → NP_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, Q3L0T1, Q6PI82, Q6UJ77, Q6ZSW1, Q6ZUT5, Q86XG3, Q96DC1, Q9BWK9
    Related
    ENSP00000260818.6, ENST00000260818.11
    Conserved Domains (2) summary
    pfam00226
    Location:1301 → 1354
    DnaJ; DnaJ domain
    pfam14237
    Location:976 → 1020
    DUF4339; Domain of unknown function (DUF4339)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047447819.1 → XP_047303775.1  dnaJ homolog subfamily C member 13 isoform X1

  2. XM_047447820.1 → XP_047303776.1  dnaJ homolog subfamily C member 13 isoform X2

    UniProtKB/Swiss-Prot
    O75165, Q3L0T1, Q6PI82, Q6UJ77, Q6ZSW1, Q6ZUT5, Q86XG3, Q96DC1, Q9BWK9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    135161977..135283543
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345884.1 → XP_054201859.1  dnaJ homolog subfamily C member 13 isoform X1

  2. XM_054345885.1 → XP_054201860.1  dnaJ homolog subfamily C member 13 isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173823.1: Suppressed sequence

    Description
    NM_173823.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75165.5 GenPept UniProtKB/Swiss-Prot:O75165

Gene LinkOut

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