DNAJC15 DnaJ heat shock protein family (Hsp40) member C15 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJC15provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member C15provided by HGNC
Primary source: HGNC:HGNC:20325
See related: Ensembl:ENSG00000120675 MIM:615339; AllianceGenome:HGNC:20325
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MCJ; HSD18; DNAJD1
Summary: Predicted to enable ATPase activator activity. Predicted to be involved in protein import into mitochondrial matrix. Predicted to act upstream of or within several processes, including cellular response to starvation; negative regulation of mitochondrial electron transport, NADH to ubiquinone; and negative regulation of protein-containing complex assembly. Predicted to be located in mitochondrial inner membrane. Predicted to be part of PAM complex, Tim23 associated import motor. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in duodenum (RPKM 13.6), small intestine (RPKM 12.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 13q14.11

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (43023586..43114213)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (42242004..42332653)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (43597722..43688349)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

MCJ: A mitochondrial target for cardiac intervention in pulmonary hypertension.
Title: MCJ: A mitochondrial target for cardiac intervention in pulmonary hypertension.
The mitochondrial negative regulator MCJ modulates the interplay between microbiota and the host during ulcerative colitis.
Title: The mitochondrial negative regulator MCJ modulates the interplay between microbiota and the host during ulcerative colitis.
Silencing hepatic MCJ attenuates non-alcoholic fatty liver disease (NAFLD) by increasing mitochondrial fatty acid oxidation.
Title: Silencing hepatic MCJ attenuates non-alcoholic fatty liver disease (NAFLD) by increasing mitochondrial fatty acid oxidation.
Notably, the top signal of differentiated ASE between inter-continental populations was observed in DNAJC15, of which the derived allele of rs12015, a single nucleotide polymorphism (SNP), showed significantly higher expression than did the ancestral allele specifically in European individuals.
Title: Genome-wide comparison of allele-specific gene expression between African and European populations.
DNAJC15 as a new target gene responsible for ETV7-mediated Doxorubicin-resistance.
Title: ETV7-Mediated DNAJC15 Repression Leads to Doxorubicin Resistance in Breast Cancer Cells.
Acetaminophen interferes with the formation of mitochondrial respiratory supercomplexes via the mitochondrial negative regulator MCJ. Study also show higher levels of MCJ in livers from patients with acetaminophen-induced liver injury.
Title: The mitochondrial negative regulator MCJ is a therapeutic target for acetaminophen-induced liver injury.
this study shows that memory CD8+ T cells lacking MCJ provide superior protection against influenza virus infection
Title: Fine-Tuning of CD8(+) T Cell Mitochondrial Metabolism by the Respiratory Chain Repressor MCJ Dictates Protection to Influenza Virus.
Both DnaJC15 and DnaJC19 formed two distinct subcomplexes with Magmas at the import channel.
Title: Functional Diversity of Human Mitochondrial J-proteins Is Independent of Their Association with the Inner Membrane Presequence Translocase.
These results identify the MCJ gene as a transcriptional target of IFNgamma and provide evidence of the dynamic adaptation of normal tissues to changes in the environment as a way to adapt metabolically to new conditions
Title: Ikaros mediates the DNA methylation-independent silencing of MCJ/DNAJC15 gene expression in macrophages.
Changes in the expression levels of IRS1, IRS2, RIPK2, RSPO1, and DNA JC15 genes might contribute to the development of insulin resistance and glucose intolerance in the obese boys.
Title: The expression of CCN2, IQSEC, RSPO1, DNAJC15, RIPK2, IL13RA2, IRS1, and IRS2 genes in blood of obese boys with insulin resistance.

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
A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. 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

SHGC-105249 (e-PCR)
- UniSTS:169255

STS-T93515 (e-PCR)
- UniSTS:3371

SHGC-77765 (e-PCR)
- UniSTS:100998

STS-N30720 (e-PCR)
- UniSTS:42143

STS-N40997 (e-PCR)
- UniSTS:58037

G29207 (e-PCR)
- UniSTS:69066

WI-10462 (e-PCR)
- UniSTS:67833

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to starvation	IEA Inferred from Electronic Annotation more info
involved_in intracellular protein transport	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of mitochondrial electron transport, NADH to ubiquinone	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein-containing complex assembly	IEA Inferred from Electronic Annotation more info
involved_in protein import into mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein-containing complex assembly	IEA Inferred from Electronic Annotation more info
involved_in regulation of lipid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of PAM complex, Tim23 associated import motor	IBA Inferred from Biological aspect of Ancestor more info
part_of TIM23 mitochondrial import inner membrane translocase complex	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: dnaJ homolog subfamily C member 15

Names: DNAJ domain-containing; DnaJ (Hsp40) homolog, subfamily C, member 15; DnaJ (Hsp40) homolog, subfamily D, member 1; cell growth-inhibiting gene 22 protein; methylation-controlled J protein

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_013238.3 → NP_037370.2 dnaJ homolog subfamily C member 15

See identical proteins and their annotated locations for NP_037370.2

Status: VALIDATED

Source sequence(s)

AF126743, AL445217, CA444534

Consensus CDS

CCDS9388.1

UniProtKB/Swiss-Prot

B2R4L0, Q5T219, Q6X963, Q9Y5T4

Related

ENSP00000368523.2, ENST00000379221.4

Conserved Domains (1) summary

cl02542
Location:41 → 144

DnaJ; DnaJ domain or J-domain. DnaJ/Hsp40 (heat shock protein 40) proteins are highly conserved and play crucial roles in protein translation, folding, unfolding, translocation, and degradation. They act primarily by stimulating the ATPase activity of Hsp70s, ...