Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 131118, updated on 4-Jul-2021

    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
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DNAJC19 in Genome Data Viewer
    Location:
    3q26.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (180983709..180989838, complement)
    105.20201022 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 ribosomal protein L32 pseudogene 10 Neighboring gene FMR1 autosomal homolog 1 Neighboring gene VISTA enhancer hs192 Neighboring gene SOX2 overlapping transcript Neighboring gene RNA, U6 small nuclear 4, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    3-methylglutaconic aciduria type V
    MedGen: C1857776 OMIM: 610198 GeneReviews: Not available
    Compare labs
    Biological insights from 108 schizophrenia-associated genetic loci.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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 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
    PubMed 
    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 regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    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
    PubMed 
    part_of inner mitochondrial membrane protein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in matrix side of mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    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

    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)

    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_001190233.2NP_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:2885
      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_145261.4NP_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
      Q96DA6
      UniProtKB/TrEMBL
      A0A0S2Z5X1
      Related
      ENSP00000372005.2, ENST00000382564.8
      Conserved Domains (1) summary
      cl02542
      Location:53110
      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: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

      Range
      180983709..180989838 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.
    Support Center