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

Gene ID: 131118, updated on 13-Feb-2019

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

Genomic context

See DNAJC19 in Genome Data Viewer
Location:
3q26.33
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (180983709..180989774, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (180701497..180707562, 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog

Pathways from BioSystems

  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitochondrial protein import, organism-specific biosystem (from REACTOME)
    Mitochondrial protein import, organism-specific biosystemA human mitochondrion contains about 1500 proteins, more than 99% of which are encoded in the nucleus, synthesized in the cytosol and imported into the mitochondrion. Proteins are targeted to four lo...

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
ATPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to protein transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
genitalia development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ATPase activity IEA
Inferred from Electronic Annotation
more info
 
protein folding NAS
Non-traceable Author Statement
more info
PubMed 
protein import into mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein targeting to mitochondrion NAS
Non-traceable Author Statement
more info
PubMed 
visual perception IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
PAM complex, Tim23 associated import motor IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    5001..11066
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001190233.1NP_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, ENST00000382564.7
    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_033721.1 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_033722.1 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

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in a central exon, compared to variant 1. This variant is represented as non-coding because the longest in-frame ORF is very short compared to that found in variant 1, and there is insufficient evidence to determine if the truncated protein is produced.
    Source sequence(s)
    AC008009, BC073989, CB052107, DA158066
  4. NR_046073.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks three alternate exons spanning the 5' and central regions, compared to variant 1. This variant is represented as non-coding because the longest in-frame ORF is very short compared to that found in variant 1, and there is insufficient evidence to determine if the truncated protein is produced.
    Source sequence(s)
    AW207852, BC073989, BQ438379, DA158066

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    180983709..180989774 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.
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