DNAJC10 DnaJ heat shock protein family (Hsp40) member C10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJC10provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member C10provided by HGNC
Primary source: HGNC:HGNC:24637
See related: Ensembl:ENSG00000077232 MIM:607987; AllianceGenome:HGNC:24637
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: JPDI; MTHr; ERdj5; PDIA19
Summary: This gene encodes an endoplasmic reticulum co-chaperone which is part of the endoplasmic reticulum-associated degradation complex involved in recognizing and degrading misfolded proteins. The encoded protein reduces incorrect disulfide bonds in misfolded glycoproteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
Expression: Ubiquitous expression in endometrium (RPKM 35.6), thyroid (RPKM 29.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q32.1

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (182716257..182794464)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (183205193..183283430)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (183580984..183659191)

Chromosome 2 - NC_000002.12 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 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?

MCM8 promotes lung cancer progression through upregulating DNAJC10.
Title: MCM8 promotes lung cancer progression through upregulating DNAJC10.
DNAJC10 maintains survival and self-renewal of leukemia stem cells through PERK branch of the unfolded protein response.
Title: DNAJC10 maintains survival and self-renewal of leukemia stem cells through PERK branch of the unfolded protein response.
Mechanistic characterization of disulfide bond reduction of an ERAD substrate mediated by cooperation between ERdj5 and BiP.
Title: Mechanistic characterization of disulfide bond reduction of an ERAD substrate mediated by cooperation between ERdj5 and BiP.
DNAJC10 correlates with tumor immune characteristics and predicts the prognosis of glioma patients.
Title: DNAJC10 correlates with tumor immune characteristics and predicts the prognosis of glioma patients.
AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity.
Title: AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity.
Downregulation of DNAJC10 (ERDJ5) is associated with poor survival in breast cancer.
Title: Downregulation of DNAJC10 (ERDJ5) is associated with poor survival in breast cancer.
Ablation of the Chaperone Protein ERdj5 Results in a Sjogren's Syndrome-Like Phenotype in Mice, Consistent With an Upregulated Unfolded Protein Response in Human Patients.
Title: Ablation of the Chaperone Protein ERdj5 Results in a Sjögren's Syndrome-Like Phenotype in Mice, Consistent With an Upregulated Unfolded Protein Response in Human Patients.
Role of ERdj5 conformational dynamics in endoplasmic reticulum associated degradation
Title: The Highly Dynamic Nature of ERdj5 Is Key to Efficient Elimination of Aberrant Protein Oligomers through ER-Associated Degradation.
ERdj5 is a member of the proteostasis network that regulates rod opsin biogenesis and supports a role for disulfide bond formation/reduction in rod opsin biogenesis and disease.
Title: The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.
ERdj5, by binding to Sel1L, triggers BiP-Cholera toxin interaction proximal to the Hrd1 complex; postulate this scenario enables the Hrd1-associated retrotranslocation machinery to capture the toxin efficiently once the toxin is released from BiP
Title: The ERdj5-Sel1L complex facilitates cholera toxin retrotranslocation.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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
Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp160, precursor	env	HIV-1 gp160 interacts with DNAJC10; predicted interaction to be within the endoplasmic reticulum and function as chaperone for endoplasmic reticulum-associated degradation	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92924 (e-PCR)
- UniSTS:87599

D2S1993 (e-PCR)
- UniSTS:36434

RH104078 (e-PCR)
- UniSTS:98403

REN38353 (e-PCR)
- UniSTS:363153

SHGC-106137 (e-PCR)
- UniSTS:169666

WI-13407 (e-PCR)
- UniSTS:1749

RH48757 (e-PCR)
- UniSTS:89848

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables Hsp70 protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables disulfide oxidoreductase activity	ISS Inferred from Sequence or Structural Similarity more info
enables misfolded protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables misfolded protein binding	IDA Inferred from Direct Assay more info	PubMed
enables oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	IBA Inferred from Biological aspect of Ancestor more info
enables oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-disulfide reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein-disulfide reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein-disulfide reductase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-folding chaperone binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in IRE1-mediated unfolded protein response	IBA Inferred from Biological aspect of Ancestor more info
involved_in intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ATP-dependent activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein folding in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
involved_in response to endoplasmic reticulum stress	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
part_of endoplasmic reticulum chaperone complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in endoplasmic reticulum lumen	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum lumen	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed

General protein information

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Preferred Names: dnaJ homolog subfamily C member 10

Names: DnaJ (Hsp40) homolog, subfamily C, member 10; ER-resident protein ERdj5; J-domain-containing protein disulfide isomerase-like protein; endoplasmic reticulum DNA J domain-containing protein 5; macrothioredoxin; protein disulfide isomerase family A, member 19

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.

mRNA and Protein(s)

NM_001271581.3 → NP_001258510.1 dnaJ homolog subfamily C member 10 isoform 2

See identical proteins and their annotated locations for NP_001258510.1

Status: REVIEWED

Source sequence(s)

AC073951, AC105396, KF456753

Consensus CDS

CCDS74613.1

UniProtKB/TrEMBL

A0A7P0Z431

Related

ENSP00000479930.1, ENST00000616986.5

Conserved Domains (6) summary

COG0484
Location:34 → 132

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

cd03003
Location:129 → 229

PDI_a_ERdj5_N; PDIa family, N-terminal ERdj5 subfamily; ERdj5, also known as JPDI and macrothioredoxin, is a protein containing an N-terminal DnaJ domain and four redox active TRX domains. This subfamily is comprised of the first TRX domain of ERdj5 located after the ...

cd03004
Location:510 → 617

PDI_a_ERdj5_C; PDIa family, C-terminal ERdj5 subfamily; ERdj5, also known as JPDI and macrothioredoxin, is a protein containing an N-terminal DnaJ domain and four redox active TRX domains. This subfamily is composed of the three TRX domains located at the C-terminal ...

TIGR01130
Location:130 → 614

ER_PDI_fam; protein disulfide isomerase, eukaryotic

pfam00226
Location:35 → 97

DnaJ; DnaJ domain

cl00388
Location:347 → 401

Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
NM_018981.4 → NP_061854.1 dnaJ homolog subfamily C member 10 isoform 1 precursor

See identical proteins and their annotated locations for NP_061854.1

Status: REVIEWED

Source sequence(s)

AC073951, AC105396, KF456753

Consensus CDS

CCDS33345.1

UniProtKB/Swiss-Prot

Q17RJ6, Q3B7W8, Q4ZG06, Q53QT7, Q6UWZ6, Q86T61, Q8IXB1, Q8NC82, Q8TD87, Q96K38, Q96K44, Q96K54, Q9NSY6

UniProtKB/TrEMBL

A0A7P0Z431

Related

ENSP00000264065.6, ENST00000264065.12

Conserved Domains (3) summary

COG0484
Location:34 → 132

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

cd03003
Location:129 → 229

PDI_a_ERdj5_N; PDIa family, N-terminal ERdj5 subfamily; ERdj5, also known as JPDI and macrothioredoxin, is a protein containing an N-terminal DnaJ domain and four redox active TRX domains. This subfamily is comprised of the first TRX domain of ERdj5 located after the ...

cd03004
Location:556 → 663

PDI_a_ERdj5_C; PDIa family, C-terminal ERdj5 subfamily; ERdj5, also known as JPDI and macrothioredoxin, is a protein containing an N-terminal DnaJ domain and four redox active TRX domains. This subfamily is composed of the three TRX domains located at the C-terminal ...