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

    Gene ID: 131118, updated on 3-Nov-2024

    Summary

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    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

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    See DNAJC19 in Genome Data Viewer
    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_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909466 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:180629449-180630104 Neighboring gene Sharpr-MPRA regulatory region 7910 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:180641841-180642341 Neighboring gene ribosomal protein L32 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14928 Neighboring gene FMR1 autosomal homolog 1 Neighboring gene VISTA enhancer hs192 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:180792991-180793622 Neighboring gene SOX2 overlapping transcript Neighboring gene RNA, U6 small nuclear 4, pseudogene Neighboring gene FAU pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes. Janz A, et al. Mol Metab, 2024 Jan. PMID 38142971, Free PMC Article
    2. Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein. Sparkes R, et al. Cardiol Young, 2007 Apr. PMID 17244376
    3. New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Ojala T, et al. Pediatr Res, 2012 Oct. PMID 22797137
    4. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. Davey KM, et al. J Med Genet, 2006 May. PMID 16055927, Free PMC Article
    5. Functional Diversity of Human Mitochondrial J-proteins Is Independent of Their Association with the Inner Membrane Presequence Translocase. Sinha D, et al. J Biol Chem, 2016 Aug 12. PMID 27330077, Free PMC Article

    See all (50) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ99060

    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 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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    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_022933.1 RefSeqGene

      Range
      5039..11066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_743

    mRNA and Protein(s)

    1. 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, ...

    2. 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

    1. 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

    2. 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

    3. NR_033723.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC008009, BC073989, CB052107, DA158066

    4. 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

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      180983709..180989838 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. 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

    1. 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.

    2. NM_201260.1: Suppressed sequence

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

    3. NM_201261.1: Suppressed sequence

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

    4. 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.

    5. 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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96DA6.3 GenPept UniProtKB/Swiss-Prot:Q96DA6

    Gene LinkOut

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

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