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DNAJC19 Gene

protein-coding   GIFtS: 49

GC03M178105
DnaJ (Hsp40) homolog, subfamily C, member 19
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Products    

Aliases &
Descriptions
for DNAJC19 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section
Aliases & Descriptions
DnaJ (Hsp40) homolog, subfamily C, member 191 2     OTTHUMP000002126602
TIMM141 2 3     OTTHUMP000002126612
TIM142 3 5     OTTHUMP000002126632
Pam181 2     homolog of yeast TIM142
Tim141     OTTHUMP000002126622
mitochondrial import inner membrane translocase subunit TIM142     DnaJ homolog subfamily C member 193

External Ids:    HGNC: 305281   Entrez Gene: 1311182   Ensembl: ENSG000002059817   UniProtKB: Q96DA63   

Export aliases for DNAJC19 gene to outside databases

Previous GC identifers: GC03M182185 GC03M180701


Summaries
for DNAJC19 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for DNAJC19:
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). Several
transcript variants, some protein-coding and some not, have been found for this gene. (provided by RefSeq)

UniProtKB/Swiss-Prot: TIM14_HUMAN, Q96DA6
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 Wiki entry for DNAJC19

Genomic Views
for DNAJC19 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DNAJC19 gene promoter:
         POU2F1   TBP   POU3F2   Pbx1a   HNF-1A   SRF   LCR-F1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for DNAJC19

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q26.33   Ensembl cytogenetic band:  3q26.33   HGNC cytogenetic band: 3q26.33

DNAJC19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAJC19 gene location

GeneLoc gene densities for chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M178105:  view genomic region     (about GC identifiers)

Start:
 178,105,493 bp from pter
End:
 178,111,557 bp from pter
Size:
 6,065 bases
Orientation:
 minus strand

1 alternative location:
Chr3- 180,701,497-180,707,562     
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  

Proteins
for DNAJC19 gene

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section
UniProtKB/Swiss-Prot: TIM14_HUMAN, Q96DA6 (See protein sequence)
Recommended Name: Mitochondrial import inner membrane translocase subunit TIM14  
Size: 116 amino acids; 12499 Da
Subunit: Probable component of the PAM complex at least composed of a mitochondrial HSP70 protein, GRPEL1 or GRPEL2,
TIMM44, TIMM16/MAGMAS and TIMM14/DNAJC19 (By similarity)
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein (Probable)
Secondary accessions: B2R4B1

Explore the universe of human proteins at neXtProt for DNAJC19: NX_Q96DA6 

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


    • REFSEQ proteins (2 alternative transcripts): 
    NP_001177162.1  NP_660304.1  


    ENSEMBL proteins: 
    ENSP00000420767 ENSP00000418058 ENSP00000419191 ENSP00000419991 ENSP00000372005 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: DNAJC19
    OriGene Protein Over-expression Lysate: DNAJC19
    GenScript Custom Purified and Recombinant Proteins Services for DNAJC19 
    Novus Biologicals Protein for DNAJC19
    Novus Biologicals Lysates for DNAJC19
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins

    4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739 mitochondrion IDA12592411
    GO:0005743 mitochondrial inner membrane IEA--
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane NAS16055927
    About this table

    DNAJC19 for ontologies           About GeneDecksing



    Antibodies for DNAJC19: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for DNAJC19
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    GenScript Custom Superior Antibodies Services for DNAJC19 
    Novus Biologicals Antibodies for DNAJC19
    Browse antibodies at Epitomics

    Assays for DNAJC19: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DNAJC19 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for DNAJC19 

    Protein Domains/
    Families
    for DNAJC19 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DNAJC19 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR001623 DnaJ_N

    Graphical View of Domain Structure for InterPro Entry Q96DA6

    ProtoNet protein and cluster: Q96DA6

    1 Blocks protein family: IPB005341 Protein of unknown function UPF0108

    UniProtKB/Swiss-Prot: TIM14_HUMAN, Q96DA6
    Similarity: Belongs to the TIM14 family
    Similarity: Contains 1 J domain


    Gene Function
    for DNAJC19 gene

    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    UniProtKB/Swiss-Prot: TIM14_HUMAN, Q96DA6
    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)

    Inhib.
    RNA:            		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA for DNAJC19
    Sigma-Aldrich shRNA for DNAJC19
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 5): DNAJC19
    OriGene shRNA RFP (see all 5): DNAJC19
    OriGene basic RS shRNA (see all 5): DNAJC19
    OriGene siRNA (see all 4): DNAJC19
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of DNAJC19 
    miRNA:Sigma-Aldrich microRNA Mimics for DNAJC19
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of DNAJC19 
    1 SABiosciences Assays for microRNA that regulate DNAJC19:
    hsa-miR-340

    Gene
    Editing:    		Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: DNAJC19
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: DNAJC19
    OriGene untagged cDNA clones in CMV expression vector: DNAJC19
    OriGene 3'-UTR clone: DNAJC19 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for DNAJC19 
    Browse Sino Biological Human cDNA Clones

    Cell
    Lines:          		GenScript Custom overexpressing Cell Line Services for DNAJC19 

    1 Gene Ontology (GO) molecular function term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031072 heat shock protein binding IEA--
    About this table

    DNAJC19 for ontologies           About GeneDecksing


    Pathways & Interactions
    for DNAJC19 gene

    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section


    DNAJC19 for pathways           About GeneDecksing

    1 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathway for  DNAJC19
        NRF2-mediated Oxidative Stress Response

        SABiosciences Pathway-Focused PCR Arrays including DNAJC19: PAHS-076A PAHS-087A 

        Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for DNAJC19
        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNAJC19

    5/6 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 6):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457 protein folding NAS16055927
    GO:0006626 protein targeting to mitochondrion NAS16055927
    GO:0007601 visual perception IMP16055927
    GO:0015031 protein transport IEA--
    GO:0048806 genitalia development IMP16055927
    About this table

    DNAJC19 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DNAJC19 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section
    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DNAJC19


    Transcripts
    for DNAJC19 gene

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section
    Inhib.
    RNA:             		Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich siRNA for DNAJC19
    Sigma-Aldrich shRNA for DNAJC19
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 5): DNAJC19
    OriGene shRNA RFP (see all 5): DNAJC19
    OriGene basic RS shRNA (see all 5): DNAJC19
    OriGene siRNA (see all 4): DNAJC19
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of DNAJC19 
    miRNA: Sigma-Aldrich microRNA Mimics for DNAJC19
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of DNAJC19 
    1 SABiosciences Assays for microRNA that regulate DNAJC19:
    hsa-miR-340
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: DNAJC19
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector: DNAJC19
    OriGene untagged cDNA clones in CMV expression vector: DNAJC19
    OriGene 3'-UTR Clone: DNAJC19 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for DNAJC19 
    Primers: OriGene genome-wide validated SYBR primer pairs: DNAJC19
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for DNAJC19: PPH18938A

    REFSEQ mRNAs for DNAJC19 gene (2 alternative transcripts): 

    NM_001190233.1  NM_145261.3  

    Additional cDNA sequence: 

    AK307097.1 AK309019.1 AK311765.1 BC009702.1 BC073989.1 CR615985.1 

    22 DOTS entries:

    DT.452253  DT.97773746  DT.120898929  DT.120753424  DT.95195470  DT.100814364  DT.120898972  DT.120898920 
    DT.40132011  DT.101976929  DT.120898955  DT.100675486  DT.120753422  DT.40191023  DT.100646571  DT.101986382 
    DT.120753425  DT.120898784  DT.120898979  DT.95374406  DT.95374409  DT.100814361 

    24/234 AceView cDNA sequences (see all 234):

    BF940015 AI142046 AA744933 AI580078 CK903900 AI436771 AI074553 AI001986 
    AI222504 AA677960 BX641514 AA687608 N35341 NM_201261 CD677092 AI432130 
    BM706953 BM561224 AW296472 AI081719 BX490443 AI357155 AA939156 AI018544 

    highest scoring ESTs for DNAJC19:

    AA195760 AA220237 AA235426 AA358070 AA631924 AA775489 AA873175 AI003794 AI268262 AI312517 

    Unigene Cluster for DNAJC19:

    DnaJ (Hsp40) homolog, subfamily C, member 19
    Hs.230601  [show with all ESTs]
    Unigene Representative Sequence: AK309019


    GeneLoc Exon Structure

    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000491873 ENST00000472504 ENST00000469657 ENST00000478723 ENST00000479269
    ENST00000486355 ENST00000482363 ENST00000485675 ENST00000382564(uc003fkt.2 uc003fku.2)


    Expression
    for DNAJC19 gene

    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    DNAJC19 expression in normal and diseased human tissues

    1  / 2  / 3

    6 probe-sets matching DNAJC19 gene

    Affymetrix
    probe-set    		 Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    64108_at2, 3 U95-C 3 1.00 0.96 0.97 1.09 T79438 0.60 0.62 0.61 1
    55089_at2, 3 U95-B 1 0.81 1.00 0.98 0.91 AI003794 0.80 1.00 0.91 1
    225359_at2, 3 U133-B 2 1.00 0.95 -- -- BF666961 0.80 1.00 0.91 1
    225358_at2, 3 U133-B 1 0.91 1.00 -- -- AI003794 0.80 1.00 0.91 1
    225359_at2 U133Plus2 2 1.00 0.95 -- -- -- -- -- -- --
    225358_at2 U133Plus2 1 0.91 1.00 -- -- -- -- -- -- --
    About this table

    DNAJC19 for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    DNAJC19 gene expression
    DNAJC19 gene electronic northern expression
    DNAJC19 gene sage expression
    About these images

    CGAP SAGE TAG: --

    SOURCE GeneReport for Unigene cluster: Hs.230601

    UniProtKB/Swiss-Prot: TIM14_HUMAN, Q96DA6
    Tissue specificity: Ubiquitously expressed

    Primers: OriGene genome-wide validated SYBR primer pairs: DNAJC19
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for DNAJC19: PPH18938A
        SABiosciences Expression via Pathway-Focused PCR Arrays including DNAJC19: PAHS-076A PAHS-087A 


    Orthologs
    for DNAJC19 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section
    Orthologs for DNAJC19 gene from 5/19 species (see all 19)
    Organism Gene Locus Description Human
    Similarity    		 NCBI accessions
    dog
    (Canis familiaris)    		 DNAJC191   -- DnaJ (Hsp40) homolog, subfamily C, member 19 94.83(n)
    99.14(a)    		 488090  XM_545214.2  XP_545214.2 
    chimpanzee
    (Pan troglodytes)    		 DNAJC191   -- DnaJ (Hsp40) homolog, subfamily C, member 19 100(n)
    100(a)    		 460868  XM_516894.2  XP_516894.1 
    cow
    (Bos taurus)    		 DNAJC191   -- DnaJ (Hsp40) homolog, subfamily C, member 19 96.26(n)
    97.41(a)    		 513918  NM_001034458.1  NP_001029630.1 
    mouse
    (Mus musculus)    		 Dnajc191 , 5 3 (16.43 cM)5
    		 DnaJ (Hsp40) homolog, subfamily C, member 191, 5 92.53(n)1
    98.28(a)1    		 677131  NM_026332.31  NP_080608.31 
     AA7548655  AA9599245  (see all 16)
    chicken
    (Gallus gallus)    		 DNAJC191   -- DnaJ (Hsp40) homolog, subfamily C, member 19 81.08(n)
    87.39(a)    		 771413  XM_001234685.1  XP_001234686.1 
    About this table        Species with no ortholog for DNAJC19

    ENSEMBL Gene Tree for DNAJC19 (if available)

    Paralogs
    for DNAJC19 gene

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for DNAJC19 gene
    DNAJC152  

    DNAJC19 for paralogs           About GeneDecksing


    Pseudogenes
    9 related pseudogenes



    Genomic Variants
    for DNAJC19 gene

    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/62 NCBI SNPs in DNAJC19 are shown (see all 62)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 3 posSequenceRecsAA
    Chg    		TypeMoreRecsAllele
    freq    		PopTotal
    sample    		More
    ----------
    rs10514111,2
    		C,F,A,H,180702240(+) TAATAC/TGCAAA 3 -- ut31 ese320Minor allele frequency- N:0.00MN EA NA NS WA 1224
    rs15490521,2
    		--180702692(+) AATGAA/GAAATG 2 -- int10--------
    rs18056341,2
    		C180701177(+) CATACA/GCTAAA 2 -- ng314Minor allele frequency- G:0.00NS EA 416
    rs18056351,2
    		C,F180701987(+) AGTTGC/TCTGTA 3 -- ut31 ese34Minor allele frequency- T:0.01NS EA 408
    rs18056361,2
    		C,F,180703214(+) AAAACC/TCTTTT 2 -- int14Minor allele frequency- T:0.01NS EA 410
    rs18056371,2
    		C,F,O180705102(+) AGGAAA/GGATCA 2 -- int1 trp37Minor allele frequency- G:0.01NS EA NA 558
    rs18056381,2
    		C,180705239(+) ATTAGG/ATCCTC 2 -- int13Minor allele frequency- A:0.00NS EA 296
    rs18056391,2
    		H180706379(+) TATGGG/CAAAGA 2 -- int1 trp34Minor allele frequency- C:0.00NS EA 418
    rs18056401,2
    		C,F,180706866(+) CTCCTG/ATAAAA 2 -- int18Minor allele frequency- A:0.01NS EA 832
    rs18056411,2
    		C,H180707063(+) GGCAAG/AGGCAC 2 -- int15Minor allele frequency- A:0.01NS EA NA 420
    About this table

    HapMap Linkage Disequilibrium images for DNAJC19 (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for DNAJC19: --

    QIAGEN SeqTarget long-range PCR primers for resequencing DNAJC19 

    Disorders & Mutations
    for DNAJC19 gene

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DNAJC19 for disorders           About GeneDecksing

    OMIM: 608977   disorders: 610198  

    UniProtKB/Swiss-Prot: TIM14_HUMAN, Q96DA6

  • Defects in DNAJC19 are the cause of 3-methylglutaconic aciduria type 5 (MGA5) [MIM:610198]; also known as
    • dilated cardiomyopathy with ataxia (DCMA). MGA5 is 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

    Human Gene Mutation Database (HGMD): DNAJC19

    Export disorders and mutations for DNAJC19 gene to outside databases


    Medical News
    for DNAJC19 gene

    (Possibly Related Articles in Doctor's Guide)
    About This Section
    		   --

    Publications
    for DNAJC19 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/17 PubMed articles for DNAJC19 gene, integrated from 7 sources (see all 17):
    (articles sorted by number of sources associating them with DNAJC19)
    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. (PubMed id 16055927)1, 2, 7 Davey K.M.... Bernier F.P. (2006)
    2. The Mitochondrial Protein Translocation Motor: Struct ural Conservation between the Human and Yeast Tim14/Pam18-Tim16/Pam16 co-Chaper ones. (PubMed id 19564938)1, 3 Elsner S....Azem A. (2009)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Characterization of the human heart mitochondrial proteome. (PubMed id 12592411)1, 2 Taylor S.W.... Ghosh S.S. (2003)
    5. Role of Magmas in protein transport and human mitocho ndria biogenesis. (PubMed id 20053669)1 Sinha D....D'Silva P. (2010)
    6. Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach. (PubMed id 19413330)2 Gauci S....Mohammed S. (2009)
    7. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    8. Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein. (PubMed id 17244376)1 Sparkes R....Bernier F. (2007)
    9. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (2006)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    External Searches for DNAJC19 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DNAJC19 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 131118 HGNC: 30528 AceView: TIM14 Ensembl:ENSG00000205981 euGenes: HUgn131118
    ECgene: DNAJC19 H-InvDB: DNAJC19

    Other Databases showing DNAJC19 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DNAJC19 gene

    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    		   --

    Intellectual Property
    for DNAJC19 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    		Patent Information for DNAJC19 gene:
    Search GeneIP for patents involving DNAJC19

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for DNAJC19 gene

    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

     Millipore Custom Antibody & Bulk Services
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     Regulatory tfbs in DNAJC19 promoter
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     Assays for microRNAs that regulate DNAJC19
     SABiosciences PCR Arrays including DNAJC19
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     Browse Sino Biological Proteins and Antibodies
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     Proteins for DNAJC19
     Lysates for DNAJC19
     Browse antibodies at Epitomics
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     ELISAs and CLIAs for DNAJC19
           

    GeneCards Homepage - Last full update: 30 Dec 2010 - Incremental updates: 10 Jan 2011 , 10 Jan 2011

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