DNAJC19 Gene (Protein Coding)

DnaJ Heat Shock Protein Family (Hsp40) Member C19

GC03M180983
GIFtS:
40
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 resul... See more...

Aliases for DNAJC19 Gene

Aliases for DNAJC19 Gene

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

Additional gene information for DNAJC19 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DNAJC19 Gene

Genomics for DNAJC19 Gene

GeneHancer (GH) Regulatory Elements for DNAJC19 Gene

Promoters and enhancers for DNAJC19 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH03J180988 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.3 273 3 SP1 ZBTB40 FOXA1 RBPJ POLR2A NR2F6 ATF1 CREB1 HCFC1 MIXL1 DNAJC19 SOX2-OT lnc-DNAJC19-5 ENSG00000242068 lnc-TTC14-1
GH03J180910 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.8 +76.6 76634 4.5 ZBTB40 CTCF FOXA1 POLR2A HCFC1 ZNF362 MYC RAD21 SP1 RELA NONHSAG036778.2 FXR1 ENSG00000242068 DNAJC19 CCDC39 HSALNG0031025
GH03J181851 Enhancer 1 Ensembl ENCODE 9.8 -861.4 -861426 1.6 GATA3 TCF7L2 ZNF217 MTA3 NCOA3 CEBPG SP7 ZSCAN21 PRDM1 ARID3A piR-41406-046 ATP11B DNAJC19 ENSG00000239805 lnc-DNAJC19-10
GH03J180936 Enhancer 0.2 Ensembl 11.7 +55.0 54973 0.4 DNAJC19 HSALNG0031025 NONHSAG036778.2 FXR1
GH03J181317 Enhancer 0.3 FANTOM5 1.5 -328.4 -328380 0.3 ZSCAN4 SOX2 DNAJC19 hsa-miR-5095-355 piR-38051-195 SOX2-OT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DNAJC19 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DNAJC19 gene promoter:
  • HNF-1
  • HNF-1A
  • LCR-F1
  • Pbx1a
  • POU2F1
  • POU2F1a
  • POU3F2
  • SRF
  • SRF (504 AA)
  • TBP

Genomic Locations for DNAJC19 Gene

Genomic Locations for DNAJC19 Gene
chr3:180,983,709-180,989,774
(GRCh38/hg38)
Size:
6,066 bases
Orientation:
Minus strand
chr3:180,701,497-180,707,562
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for DNAJC19 Gene

Proteins for DNAJC19 Gene

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  • 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

Protein Expression for DNAJC19 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DNAJC19 Gene

  • Ubiquitination at Lys34 and Lys42
  • Modification sites at PhosphoSitePlus

Other Protein References for DNAJC19 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DNAJC19 Gene

Domains & Families for DNAJC19 Gene

Gene Families for DNAJC19 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DNAJC19 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNAJC19 Gene

GenScript: Design optimal peptide antigens:
  • DnaJ homolog subfamily C member 19 (TIM14_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96DA6

UniProtKB/Swiss-Prot:

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

Function for DNAJC19 Gene

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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).

Phenotypes From GWAS Catalog for DNAJC19 Gene

Gene Ontology (GO) - Molecular Function for DNAJC19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity IBA 21873635
GO:0005515 protein binding IPI 19564938
genes like me logo Genes that share ontologies with DNAJC19: view
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

CRISPR Products

Inhibitory RNA Products

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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 1
endoplasmic reticulum 1
peroxisome 0
cytosol 0

Gene Ontology (GO) - Cellular Components for DNAJC19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001405 PAM complex, Tim23 associated import motor IBA 21873635
GO:0005739 mitochondrion IDA,IEA 12592411
GO:0005743 mitochondrial inner membrane IDA 20053669
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS 16055927
genes like me logo Genes that share ontologies with DNAJC19: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DNAJC19 Gene

Pathways & Interactions for DNAJC19 Gene

PathCards logo

SuperPathways 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:0007601 visual perception IMP 16055927
GO:0015031 protein transport IEA --
GO:0030150 protein import into mitochondrial matrix IBA 21873635
genes like me logo Genes that share ontologies with DNAJC19: view

No data available for SIGNOR curated interactions for DNAJC19 Gene

Drugs & Compounds for DNAJC19 Gene

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No Compound Related Data Available

Transcripts for DNAJC19 Gene

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mRNA/cDNA for DNAJC19 Gene

(5) REFSEQ mRNAs :
(22) Additional mRNA sequences :
(234) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DNAJC19

Clone 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

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  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for DNAJC19 Gene
mRNA expression by GTEx for DNAJC19 GenemRNA expression by BioGPS 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, 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.

Evidence on tissue expression from TISSUES for DNAJC19 Gene

  • Nervous system(4.8)
  • Intestine(4.4)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC19 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
Thorax:
  • heart
  • heart valve
  • lung
Abdomen:
  • liver
Pelvis:
  • penis
  • testicle
  • urethra
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns 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 33 32
  • 100 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia DNAJC19 33 32
  • 96.26 (n)
 OneToMany
-- 33
  • 95 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia DNAJC19 33 32
  • 94.83 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Dnajc19 33 32
  • 92.53 (n)
 OneToOne
Dnajc19-ps 17
oppossum
(Monodelphis domestica)
 Mammalia DNAJC19 33
  • 92 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia DNAJC19 33
  • 91 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves DNAJC19 33 32
  • 80.87 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia DNAJC19 33
  • 89 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia dnajc19 32
  • 77.39 (n)
Str.7072 32
zebrafish
(Danio rerio)
 Actinopterygii dnajc19 33 32
  • 72.46 (n)
 OneToOne
zgc73251 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.10044 32
fruit fly
(Drosophila melanogaster)
 Insecta CG7394 33 32
  • 58.56 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003533 32
  • 54.95 (n)
worm
(Caenorhabditis elegans)
 Secernentea dnj-21 33 32
  • 60.38 (n)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PAM18 33
  • 24 (a)
 OneToMany
MDJ2 35
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT2G35795 32
  • 55.35 (n)
rice
(Oryza sativa)
 Liliopsida Os07g0192300 32
  • 55.76 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes tim14 32
  • 51.36 (n)
bread mold
(Neurospora crassa)
 Ascomycetes NCU00075 32
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DNAJC19: view image

Paralogs for DNAJC19 Gene

Paralogs for DNAJC19 Gene

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

  • TIM14_HUMAN
  • F2Z3A7_HUMAN
  • G5E9V2_HUMAN

Pseudogenes.org Pseudogenes for DNAJC19 Gene

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

Variants for DNAJC19 Gene

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Sequence variations from dbSNP and Humsavar for DNAJC19 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1051411 benign, 3-methylglutaconic aciduria type V 180,984,452(-) C/T 3_prime_UTR_variant, non_coding_transcript_variant
rs137854888 pathogenic, 3-methylglutaconic aciduria type V 180,987,023(-) C/G intron_variant, splice_acceptor_variant
rs141982712 benign, uncertain-significance, not specified, 3-methylglutaconic aciduria type V 180,984,722(-) A/G intron_variant
rs142023670 benign, conflicting-interpretations-of-pathogenicity, likely-benign, not specified, 3-methylglutaconic aciduria type V, not provided 180,988,083(-) C/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs143458718 uncertain-significance, 3-methylglutaconic aciduria type V 180,984,275(-) A/G 3_prime_UTR_variant, non_coding_transcript_variant

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)

Additional Variant Information 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

(10) MalaCards diseases for DNAJC19 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for DNAJC19

Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 KM … Bernier FP (Journal of medical genetics 2006) 3 4 23 56
  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 (International journal of molecular sciences 2009) 2 3 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. Characterization of the human heart mitochondrial proteome. (PMID: 12592411) Taylor SW … Ghosh SS (Nature biotechnology 2003) 3 4 56
  5. DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity. (PMID: 29656893) Gupta R … Choudhary C (Cell 2018) 3 56

ExternalLinks

View latest publications for DNAJC19 gene in Mastermind

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