Human Gene DNAJC6 (uc001dce.2) Description and Page Index
  Description: Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), transcript variant 1, mRNA.
RefSeq Summary (NM_001256864): DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N terminus, a glycine/phenylalanine (G/F)-rich region, and a cysteine-rich domain containing 4 motifs resembling a zinc finger domain (Ohtsuka and Hata, 2000 [PubMed 11147971]).[supplied by OMIM, Mar 2008].
Transcript (Including UTRs)
   Position: hg19 chr1:65,775,218-65,881,552 Size: 106,335 Total Exon Count: 19 Strand: +
Coding Region
   Position: hg19 chr1:65,775,429-65,878,708 Size: 103,280 Coding Exon Count: 19 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:65,775,218-65,881,552)mRNA (may differ from genome)Protein (970 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DNAJC6
CDC HuGE Published Literature: DNAJC6
Positive Disease Associations: Blood Coagulation Factor Inhibitors , Body Weight , Bone Density
Related Studies:
  1. Blood Coagulation Factor Inhibitors
    Georgios Athanasiadis et al. PloS one 2012, A genome-wide association study of the Protein C anticoagulant pathway., PloS one. [PubMed 22216198]
  2. Body Weight
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
  3. Body Weight
    Caroline S Fox et al. BMC medical genetics 2007, Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project., BMC medical genetics. [PubMed 17903300]
    Adiposity traits are associated with SNPs on the Affymetrix 100K SNP GeneChip. Replication of these initial findings is necessary. These data will serve as a resource for replication as more genes become identified with BMI and WC.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: DNAJC6
Diseases sorted by gene-association score: parkinson disease 19a, juvenile-onset* (1219), atypical juvenile parkinsonism* (247), parkinson disease, juvenile, type 2* (143), dnajc6-related parkinson disease* (100), juvenile-onset parkinson disease (13), cataract 8, multiple types (10), spinocerebellar ataxia 5 (7), robinow syndrome, autosomal dominant 2 (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.51 RPKM in Brain - Frontal Cortex (BA9)
Total median expression: 357.66 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -61.68211-0.292 Picture PostScript Text
3' UTR -720.472844-0.253 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00226 - DnaJ domain
PF10409 - C2 domain of PTEN tumour-suppressor protein

SCOP Domains:
46565 - Chaperone J-domain
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
52799 - (Phosphotyrosine protein) phosphatases II

ModBase Predicted Comparative 3D Structure on O75061-2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologGenome BrowserGenome Browser
Gene Details   Gene DetailsGene Details
Gene Sorter   Gene SorterGene Sorter
  Ensembl WormBaseSGD
  Protein Sequence Protein SequenceProtein Sequence
  Alignment AlignmentAlignment

-  Descriptions from all associated GenBank mRNAs
  LF206533 - JP 2014500723-A/14036: Polycomb-Associated Non-Coding RNAs.
BC051722 - Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6, mRNA (cDNA clone IMAGE:5262480), complete cds.
AK296408 - Homo sapiens cDNA FLJ53346 complete cds, highly similar to tyrosine-protein phosphatase auxilin (EC 3.1.3.48).
AB007942 - Homo sapiens KIAA0473 mRNA for KIAA0473 protein.
AB385339 - Synthetic construct DNA, clone: pF1KA0473, Homo sapiens DNAJC6 gene for DnaJ homolog, subfamily C, member 6, complete cds, without stop codon, in Flexi system.
BX647203 - Homo sapiens mRNA; cDNA DKFZp686D1249 (from clone DKFZp686D1249).
BC109280 - Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6, mRNA (cDNA clone MGC:129915 IMAGE:40028814), complete cds.
BC109279 - Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6, mRNA (cDNA clone MGC:129914 IMAGE:40028812), complete cds.
KJ902025 - Synthetic construct Homo sapiens clone ccsbBroadEn_11419 DNAJC6 gene, encodes complete protein.
MA442110 - JP 2018138019-A/14036: Polycomb-Associated Non-Coding RNAs.
LF355910 - JP 2014500723-A/163413: Polycomb-Associated Non-Coding RNAs.
LF355913 - JP 2014500723-A/163416: Polycomb-Associated Non-Coding RNAs.
LF355915 - JP 2014500723-A/163418: Polycomb-Associated Non-Coding RNAs.
JD243751 - Sequence 224775 from Patent EP1572962.
JD551141 - Sequence 532165 from Patent EP1572962.
JD264874 - Sequence 245898 from Patent EP1572962.
JD403043 - Sequence 384067 from Patent EP1572962.
JD289572 - Sequence 270596 from Patent EP1572962.
JD076185 - Sequence 57209 from Patent EP1572962.
JD454358 - Sequence 435382 from Patent EP1572962.
JD314111 - Sequence 295135 from Patent EP1572962.
JD262665 - Sequence 243689 from Patent EP1572962.
JD498493 - Sequence 479517 from Patent EP1572962.
JD410228 - Sequence 391252 from Patent EP1572962.
JD231625 - Sequence 212649 from Patent EP1572962.
JD248444 - Sequence 229468 from Patent EP1572962.
JD278930 - Sequence 259954 from Patent EP1572962.
JD448598 - Sequence 429622 from Patent EP1572962.
JD333171 - Sequence 314195 from Patent EP1572962.
JD500066 - Sequence 481090 from Patent EP1572962.
JD325277 - Sequence 306301 from Patent EP1572962.
JD162147 - Sequence 143171 from Patent EP1572962.
JD182985 - Sequence 164009 from Patent EP1572962.
JD046794 - Sequence 27818 from Patent EP1572962.
JD350130 - Sequence 331154 from Patent EP1572962.
JD374117 - Sequence 355141 from Patent EP1572962.
LF355916 - JP 2014500723-A/163419: Polycomb-Associated Non-Coding RNAs.
JD236579 - Sequence 217603 from Patent EP1572962.
JD301045 - Sequence 282069 from Patent EP1572962.
JD347991 - Sequence 329015 from Patent EP1572962.
JD563730 - Sequence 544754 from Patent EP1572962.
JD202663 - Sequence 183687 from Patent EP1572962.
JD434224 - Sequence 415248 from Patent EP1572962.
JD357812 - Sequence 338836 from Patent EP1572962.
MA591487 - JP 2018138019-A/163413: Polycomb-Associated Non-Coding RNAs.
MA591490 - JP 2018138019-A/163416: Polycomb-Associated Non-Coding RNAs.
MA591492 - JP 2018138019-A/163418: Polycomb-Associated Non-Coding RNAs.
MA591493 - JP 2018138019-A/163419: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis

Reactome (by CSHL, EBI, and GO)

Protein O75061 (Reactome details) participates in the following event(s):

R-HSA-421836 trans-Golgi Network Derived Vesicle Uncoating
R-HSA-432688 trans-Golgi Network Derived Lysosomal Vesicle Uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-432722 Golgi Associated Vesicle Biogenesis
R-HSA-432720 Lysosome Vesicle Biogenesis
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-421837 Clathrin derived vesicle budding
R-HSA-199991 Membrane Trafficking
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA0473, NM_001256864, NP_001243794, O75061-2, uc001dce.1
UCSC ID: uc001dce.2
RefSeq Accession: NM_001256864
Protein: O75061-2, splice isoform of O75061 CCDS: CCDS58004.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene DNAJC6:
parkinson-overview (Parkinson Disease Overview)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001256864.1
exon count: 19CDS single in 3' UTR: no RNA size: 5968
ORF size: 2913CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5911.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.