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Aliases for DNAJC19 Gene

Aliases for DNAJC19 Gene

  • DnaJ (Hsp40) Homolog, Subfamily C, Member 19 2 3
  • TIM14 3 4 6
  • TIMM14 3 4
  • Mitochondrial Import Inner Membrane Translocase Subunit TIM14 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 (Hsp40) Homolog, Subfamily C, Member 19) is a Protein Coding gene. Diseases associated with DNAJC19 include 3-methylglutaconic aciduria, type v and barth syndrome. Among its related pathways are Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein and Mitochondrial Protein Import. 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

Genomic Location for DNAJC19 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for DNAJC19 Gene at MOPED

Post-translational modifications for DNAJC19 Gene

  • Ubiquitination at Lys34 and Lys42
  • Modification sites at PhosphoSitePlus

Other Protein References for DNAJC19 Gene

No data available for DME Specific Peptides for DNAJC19 Gene

Domains for DNAJC19 Gene

Gene Families for DNAJC19 Gene

HGNC:
  • DNAJ :Heat shock proteins / DNAJ (HSP40)

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 :
  • Q96DA6
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

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

miRNA for DNAJC19 Gene

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for DNAJC19 Gene COMPARTMENTS Subcellular localization image for DNAJC19 gene
Compartment Confidence
mitochondrion 5
extracellular 2
cytosol 1
endoplasmic reticulum 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DNAJC19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 12592411
GO:0005743 mitochondrial inner membrane IDA 20053669
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 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 TAS --
GO:0007601 visual perception IMP 16055927
GO:0044267 cellular protein metabolic process TAS --
GO:0048806 genitalia development IMP 16055927
genes like me logo Genes that share ontologies with DNAJC19: view

Transcripts for DNAJC19 Gene

Unigene Clusters for DNAJC19 Gene

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

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 for DNAJC19 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DNAJC19 Gene

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 expressions with DNAJC19: view

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 35
  • 100 (n)
  • 100 (a)
DNAJC19 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 95 (a)
OneToMany
DNAJC19 35
  • 96.26 (n)
  • 97.41 (a)
DNAJC19 36
  • 97 (a)
OneToMany
dog
(Canis familiaris)
Mammalia DNAJC19 35
  • 94.83 (n)
  • 99.14 (a)
DNAJC19 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnajc19 35
  • 92.53 (n)
  • 98.28 (a)
Dnajc19 36
  • 60 (a)
OneToOne
Gm15118 16
oppossum
(Monodelphis domestica)
Mammalia DNAJC19 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAJC19 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJC19 35
  • 80.87 (n)
  • 86.96 (a)
DNAJC19 36
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAJC19 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajc19 35
  • 77.39 (n)
  • 82.61 (a)
Str.7072 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10044 35
zebrafish
(Danio rerio)
Actinopterygii dnajc19 35
  • 72.46 (n)
  • 78.26 (a)
dnajc19 36
  • 79 (a)
OneToOne
zgc73251 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003533 35
  • 54.95 (n)
  • 53.15 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7394 35
  • 58.56 (n)
  • 60.36 (a)
CG7394 36
  • 52 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea dnj-21 35
  • 60.38 (n)
  • 54.72 (a)
dnj-21 36
  • 52 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MDJ2 38
PAM18 36
  • 24 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G35795 35
  • 55.35 (n)
  • 50.94 (a)
rice
(Oryza sativa)
Liliopsida Os07g0192300 35
  • 55.76 (n)
  • 49.53 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU00075 35
  • 50.33 (n)
  • 54 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes tim14 35
  • 51.36 (n)
  • 47.96 (a)
Species with no ortholog for DNAJC19:
  • 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

Selected 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 MAF
rs1051411 -- 180,984,452(+) TAATA(C/T)GCAAA utr-variant-3-prime, nc-transcript-variant
rs1549052 -- 180,984,904(+) AATGA(A/G)AAATG intron-variant
rs1805634 -- 180,983,389(+) CATAC(A/G)CTAAA downstream-variant-500B
rs1805635 -- 180,984,199(+) AGTTG(C/T)CTGTA utr-variant-3-prime, nc-transcript-variant
rs1805636 -- 180,985,426(+) AAAAC(C/T)CTTTT intron-variant

Relevant External Links for DNAJC19 Gene

HapMap Linkage Disequilibrium report
DNAJC19
Human Gene Mutation Database (HGMD)
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

MalaCards: The human disease database. (3) Diseases for DNAJC19 Gene including...

Search for DNAJC19 Gene in MalaCards »

(1) OMIM Diseases for DNAJC19 Gene (608977)

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.

(1) University of Copenhagen DISEASES for DNAJC19 Gene

Relevant External Links for DNAJC19

Human Genome Epidemiology (HuGE) Navigator
DNAJC19
genes like me logo Genes that share disorders with DNAJC19: view

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 23
  2. 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
  3. 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
  4. Characterization of the human heart mitochondrial proteome. (PMID: 12592411) Taylor S.W. … Ghosh S.S. (Nat. Biotechnol. 2003) 3 4
  5. Tim14, a novel key component of the import motor of the TIM23 protein translocase of mitochondria. (PMID: 14517234) Mokranjac D. … Hell K. (EMBO J. 2003) 3

Products for DNAJC19 Gene

Sources for DNAJC19 Gene

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