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

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; 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

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
DNAJC13 c.2564A>G (p.(N855S)) was identified in two patients with essential tremor.
Title: VPS35 and DNAJC13 disease-causing variants in essential tremor.
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.
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.
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 EBI GWAS CatalogPubMed

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

RH103473 (e-PCR)
- UniSTS:97798

A006Y18 (e-PCR)
- UniSTS:59206

SHGC-77351 (e-PCR)
- UniSTS:28039

SHGC-77348 (e-PCR)
- UniSTS:31891

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 more info	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 more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in lysosomal membrane	HDA more info	PubMed
located_in membrane	HDA more info	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

NG_051045.1 RefSeqGene

Range

4976..126506

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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)
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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

132417502..132539032

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060927.1 Alternate T2T-CHM13v2.0

Range

135161977..135283543

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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.