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Aliases for DNAJC19 Gene

Aliases for DNAJC19 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C19 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 19 2 3
  • TIMM14 3 4
  • TIM14 3 4
  • Mitochondrial Import Inner Membrane Translocase Subunit TIM14 3
  • DnaJ-Like Protein Subfamily C Member 19 3
  • DnaJ Homolog Subfamily C Member 19 4
  • Homolog Of Yeast TIM14 3
  • PAM18 3

External Ids for DNAJC19 Gene

Previous GeneCards Identifiers for DNAJC19 Gene

  • GC03M182185
  • GC03M180701
  • GC03M178105

Summaries for DNAJC19 Gene

Entrez Gene Summary for DNAJC19 Gene

  • 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]

GeneCards Summary for DNAJC19 Gene

DNAJC19 (DnaJ Heat Shock Protein Family (Hsp40) Member C19) is a Protein Coding gene. Diseases associated with DNAJC19 include 3-Methylglutaconic Aciduria, Type V and 3-Methylglutaconic Aciduria. Among its related pathways are Mitochondrial protein import and Metabolism of proteins. An important paralog of this gene is DNAJC15.

UniProtKB/Swiss-Prot for DNAJC19 Gene

  • Probable component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity (By similarity).

Gene Wiki entry for DNAJC19 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJC19 Gene

Genomics for DNAJC19 Gene

Regulatory Elements for DNAJC19 Gene

Enhancers for DNAJC19 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F180910 1.1 ENCODE 11.8 +77.0 77006 3.8 HDGF PKNOX1 WRNIP1 SIN3A ARID4B DMAP1 ZNF48 YY1 GLIS2 ZNF143 DNAJC19 LOC647253 CCDC39 RPL32P10 GC03P180962
GH03F181289 0.4 FANTOM5 2.2 -300.2 -300150 0.3 ZNF610 SOX2 DNAJC19 FXR1 GC03P181252 LOC102724604
GH03F181317 0.3 FANTOM5 1.5 -328.4 -328380 0.3 SOX2 DNAJC19 GC03P181252 LOC102724604
GH03F180990 0.4 ENCODE 0.8 -0.9 -892 0.1 PKNOX1 PBX2 DNAJC19 ENSG00000242140
GH03F181055 1.6 VISTA 0.2 -67.2 -67159 2.2 ATF2 LOC102724604 DNAJC19 ENSG00000242140
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAJC19 on UCSC Golden Path with GeneCards custom track

Promoters for DNAJC19 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001380734 173 2400 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF263 SP3

Genomic Location for DNAJC19 Gene

Chromosome:
3
Start:
180,983,709 bp from pter
End:
180,989,774 bp from pter
Size:
6,066 bases
Orientation:
Minus strand

Genomic View for DNAJC19 Gene

Genes around DNAJC19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC19 Gene

Proteins for DNAJC19 Gene

  • Protein details for DNAJC19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96DA6-TIM14_HUMAN
    Recommended name:
    Mitochondrial import inner membrane translocase subunit TIM14
    Protein Accession:
    Q96DA6
    Secondary Accessions:
    • B2R4B1
    • C9JBV1

    Protein attributes for DNAJC19 Gene

    Size:
    116 amino acids
    Molecular mass:
    12499 Da
    Quaternary structure:
    • Probable component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2, TIMM44, TIMM16/PAM16 and TIMM14/DNAJC19.

    Alternative splice isoforms for DNAJC19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAJC19 Gene

Post-translational modifications for DNAJC19 Gene

  • Ubiquitination at Lys 34 and Lys 42
  • Modification sites at PhosphoSitePlus

Other Protein References for DNAJC19 Gene

No data available for DME Specific Peptides for DNAJC19 Gene

Domains & Families for DNAJC19 Gene

Gene Families for DNAJC19 Gene

Protein Domains for DNAJC19 Gene

Suggested Antigen Peptide Sequences for DNAJC19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96DA6

UniProtKB/Swiss-Prot:

TIM14_HUMAN :
  • Contains 1 J domain.
  • Belongs to the TIM14 family.
Domain:
  • Contains 1 J domain.
Family:
  • Belongs to the TIM14 family.
genes like me logo Genes that share domains with DNAJC19: view

Function for DNAJC19 Gene

Molecular function for DNAJC19 Gene

UniProtKB/Swiss-Prot Function:
Probable component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. May act as a co-chaperone that stimulate the ATP-dependent activity (By similarity).

Gene Ontology (GO) - Molecular Function for DNAJC19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19564938
genes like me logo Genes that share ontologies with DNAJC19: view

Phenotypes for DNAJC19 Gene

genes like me logo Genes that share phenotypes with DNAJC19: view

Human Phenotype Ontology for DNAJC19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DNAJC19 Gene

Localization for DNAJC19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJC19 Gene

Mitochondrion inner membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAJC19 gene
Compartment Confidence
mitochondrion 5
extracellular 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for DNAJC19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 12592411
GO:0005743 mitochondrial inner membrane IDA 20053669
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 16055927
GO:0043234 protein complex IDA 19564938
genes like me logo Genes that share ontologies with DNAJC19: view

Pathways & Interactions for DNAJC19 Gene

genes like me logo Genes that share pathways with DNAJC19: view

Pathways by source for DNAJC19 Gene

2 Reactome pathways for DNAJC19 Gene

Gene Ontology (GO) - Biological Process for DNAJC19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006457 protein folding NAS 16055927
GO:0006626 protein targeting to mitochondrion NAS 16055927
GO:0006810 transport IEA --
GO:0007601 visual perception IMP 16055927
GO:0015031 protein transport IEA --
genes like me logo Genes that share ontologies with DNAJC19: view

No data available for SIGNOR curated interactions for DNAJC19 Gene

Transcripts for DNAJC19 Gene

Unigene Clusters for DNAJC19 Gene

DnaJ (Hsp40) homolog, subfamily C, member 19:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC19 Gene

No ASD Table

Relevant External Links for DNAJC19 Gene

GeneLoc Exon Structure for
DNAJC19
ECgene alternative splicing isoforms for
DNAJC19

Expression for DNAJC19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DNAJC19 Gene

Protein differential expression in normal tissues from HIPED for DNAJC19 Gene

This gene is overexpressed in Bone (22.4) and Brain (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DNAJC19 Gene



Protein tissue co-expression partners for DNAJC19 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNAJC19 Gene:

DNAJC19

SOURCE GeneReport for Unigene cluster for DNAJC19 Gene:

Hs.230601

mRNA Expression by UniProt/SwissProt for DNAJC19 Gene:

Q96DA6-TIM14_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with DNAJC19: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DNAJC19 Gene

Orthologs for DNAJC19 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DNAJC19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAJC19 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia DNAJC19 34 35
  • 96.26 (n)
-- 35
  • 95 (a)
OneToMany
dog
(Canis familiaris)
Mammalia DNAJC19 34 35
  • 94.83 (n)
mouse
(Mus musculus)
Mammalia Dnajc19 34 35
  • 92.53 (n)
Dnajc19-ps 16
oppossum
(Monodelphis domestica)
Mammalia DNAJC19 35
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAJC19 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJC19 34 35
  • 80.87 (n)
lizard
(Anolis carolinensis)
Reptilia DNAJC19 35
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajc19 34
  • 77.39 (n)
Str.7072 34
zebrafish
(Danio rerio)
Actinopterygii dnajc19 34 35
  • 72.46 (n)
zgc73251 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10044 34
fruit fly
(Drosophila melanogaster)
Insecta CG7394 34 35
  • 58.56 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003533 34
  • 54.95 (n)
worm
(Caenorhabditis elegans)
Secernentea dnj-21 34 35
  • 60.38 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PAM18 35
  • 24 (a)
OneToMany
MDJ2 37
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G35795 34
  • 55.35 (n)
rice
(Oryza sativa)
Liliopsida Os07g0192300 34
  • 55.76 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tim14 34
  • 51.36 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00075 34
  • 50.33 (n)
Species where no ortholog for DNAJC19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DNAJC19 Gene

ENSEMBL:
Gene Tree for DNAJC19 (if available)
TreeFam:
Gene Tree for DNAJC19 (if available)

Paralogs for DNAJC19 Gene

Paralogs for DNAJC19 Gene

(1) SIMAP similar genes for DNAJC19 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DNAJC19: view

Variants for DNAJC19 Gene

Sequence variations from dbSNP and Humsavar for DNAJC19 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs137854888 Pathogenic 180,987,023(-) TTCAG(C/G)CCTTC intron-variant, splice-acceptor-variant
rs587777224 Pathogenic 180,984,691(+) TTGGC(-/T)GCTAT nc-transcript-variant, reference, frameshift-variant
rs141007488 Likely pathogenic 180,986,971(+) TTCCC(A/G)TTTTG intron-variant, nc-transcript-variant, reference, missense
rs878852999 Likely pathogenic 180,988,230(-) TACCA(A/G)GCCAG intron-variant, splice-acceptor-variant
rs151056679 Uncertain significance 180,984,710(+) ATCCT(A/C)CTATA nc-transcript-variant, reference, missense

Variation tolerance for DNAJC19 Gene

Residual Variation Intolerance Score: 60.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.46; 9.97% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAJC19 Gene

Human Gene Mutation Database (HGMD)
DNAJC19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJC19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DNAJC19 Gene

Disorders for DNAJC19 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DNAJC19 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
3-methylglutaconic aciduria, type v
  • 3-@methylglutaconic aciduria, type v
3-methylglutaconic aciduria
barth syndrome
  • 3-methylglutaconicaciduria type 2
dilated cardiomyopathy
  • congestive cardiomyopathy
cardiomyopathy
  • cardiomyopathies
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TIM14_HUMAN
  • 3-methylglutaconic aciduria 5 (MGA5) [MIM:610198]: An autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid. {ECO:0000269 PubMed:16055927}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNAJC19

Human Genome Epidemiology (HuGE) Navigator
DNAJC19
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAJC19
genes like me logo Genes that share disorders with DNAJC19: view

No data available for Genatlas for DNAJC19 Gene

Publications for DNAJC19 Gene

  1. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. (PMID: 16055927) Davey K.M. … Bernier F.P. (J. Med. Genet. 2006) 3 4 22 64
  2. The mitochondrial protein translocation motor: structural conservation between the human and yeast Tim14/Pam18-Tim16/Pam16 co-chaperones. (PMID: 19564938) Elsner S. … Azem A. (Int J Mol Sci 2009) 2 3 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Characterization of the human heart mitochondrial proteome. (PMID: 12592411) Taylor S.W. … Ghosh S.S. (Nat. Biotechnol. 2003) 3 4 64
  5. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X. … Vidal M. (Cell 2016) 3 64

Products for DNAJC19 Gene

Sources for DNAJC19 Gene

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