DNAJC19 DnaJ heat shock protein family (Hsp40) member C19 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAJC19provided by HGNC
Official Full Name: DnaJ heat shock protein family (Hsp40) member C19provided by HGNC
Primary source: HGNC:HGNC:30528
See related: Ensembl:ENSG00000205981 MIM:608977; AllianceGenome:HGNC:30528
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: PAM18; TIM14; TIMM14
Summary: The protein encoded by this gene is thought to be part of a complex involved in the ATP-dependent transport of transit peptide-containing proteins from the inner cell membrane to the mitochondrial matrix. Defects in this gene are a cause of 3-methylglutaconic aciduria type 5 (MGA5), also known as dilated cardiomyopathy with ataxia (DCMA). Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 2, 6, 10, 14 and 19. [provided by RefSeq, Jan 2012]
Expression: Ubiquitous expression in kidney (RPKM 18.0), adrenal (RPKM 14.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q26.33

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (180983709..180989838, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (183785491..183791620, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (180701497..180707626, complement)

Chromosome 3 - NC_000003.12 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.
Title: Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.
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.
The loss of DNAJC19/PHB complexes affects cardiolipin acylation and leads to the accumulation of cardiolipin species with altered acyl chains.
Title: DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling.
A report of a new mutation in the human DNAJC19 gene that causes early onset dilated cardiomyopathy syndrome in two brothers of Finnish origin.
Title: New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.
Dilated cardiomyopathy caused by homozygous mutations in a novel gene, DNAJC19, presumed to play a role in importation of mitochondrial proteins.
Title: Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein.
The association of dilated cardiomyopathy with ataxia (DCMA) syndrome with a segment of 3q26.33 and the identification of a splice mutation in a novel gene DNAJC19 in DCMA patients.
Title: Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

Submit: New GeneRIF Correction

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

Associated conditions

Description	Tests
3-methylglutaconic aciduria type 5 MedGen: C1857776 OMIM: 610198 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci. 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

RH130227 (e-PCR)
- UniSTS:213514

RH66895 (e-PCR)
- UniSTS:87633

SHGC-77577 (e-PCR)
- UniSTS:23933

G34972 (e-PCR)
- UniSTS:117650

LOC283549 (e-PCR)
- UniSTS:278675

Bda17b07 (e-PCR)
- UniSTS:37071

SHGC-77587 (e-PCR)
- UniSTS:59878

RH68261 (e-PCR)
- UniSTS:32500

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 genitalia development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular protein transport	NAS Non-traceable Author Statement more info	PubMed
involved_in protein folding	NAS Non-traceable Author Statement more info	PubMed
involved_in protein import into mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein targeting to mitochondrion	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of cardiolipin metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

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
part_of inner mitochondrial membrane protein complex	ISS Inferred from Sequence or Structural Similarity more info
located_in matrix side of mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: mitochondrial import inner membrane translocase subunit TIM14

Names: DnaJ (Hsp40) homolog, subfamily C, member 19; DnaJ-like protein subfamily C member 19; homolog of yeast TIM14

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_022933.1 RefSeqGene

Range

5039..11066

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_743

mRNA and Protein(s)

NM_001190233.2 → NP_001177162.1 mitochondrial import inner membrane translocase subunit TIM14 isoform 2

See identical proteins and their annotated locations for NP_001177162.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC008009, BC073989, CB159371

Consensus CDS

CCDS54684.1

UniProtKB/Swiss-Prot

Q96DA6

Related

ENSP00000419191.1, ENST00000479269.5

Conserved Domains (1) summary

cl02542
Location:28 → 85

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, ...
NM_145261.4 → NP_660304.1 mitochondrial import inner membrane translocase subunit TIM14 isoform 1

See identical proteins and their annotated locations for NP_660304.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC008009, BC073989, DA158066

Consensus CDS

CCDS33895.1

UniProtKB/Swiss-Prot

B2R4B1, C9JBV1, Q96DA6

UniProtKB/TrEMBL

A0A0S2Z5X1

Related

ENSP00000372005.2, ENST00000382564.8

Conserved Domains (1) summary

cl02542
Location:53 → 110

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, ...

RNA

NR_033721.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate exon in the 5' region, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest in-frame ORF, as found in variant 2.

Source sequence(s)

AA775489, AC008009, BC073989, DA158066
NR_033722.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate exon in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC008009, BC073989, BM702203, DA158066

Related

ENST00000469657.5
NR_033723.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AC008009, BC073989, CB052107, DA158066
NR_046073.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AW207852, BC073989, BQ438379, DA158066

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

180983709..180989838 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060927.1 Alternate T2T-CHM13v2.0

Range

183785491..183791620 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_201259.1: Suppressed sequence

Description

NM_201259.1: This RefSeq was permanently suppressed because it meets nonsense-mediated mRNA decay (NMD) candidate criteria when the correct ORF (nts 97-99) is annotated.
NM_201260.1: Suppressed sequence

Description

NM_201260.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NM_201261.1: Suppressed sequence

Description

NM_201261.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
NR_033724.1: Suppressed sequence

Description

NR_033724.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which appears to retain intronic sequence at its 3'' end.
NR_033725.1: Suppressed sequence

Description

NR_033725.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which appears to retain intronic sequence at its 3'' end.