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

    Gene ID: 23317, updated on 10-Dec-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
    mouse all
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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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    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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    NEW Try the new Transcript table

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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