Human Gene DNAJC13 (uc003eor.3) Description and Page Index
  Description: Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.
RefSeq Summary (NM_015268): This gene encodes a member of the Dnaj protein family whose members act as co-chaperones of a partner heat-shock protein by binding to the latter and stimulating ATP hydrolysis. The encoded protein associates with the heat-shock protein Hsc70 and plays a role in clathrin-mediated endocytosis. It may also be involved in post-endocytic transport mechanisms via its associations with other proteins, including the sorting nexin SNX1. Mutations in this gene are associated with Parkinson's disease. [provided by RefSeq, Jun 2016].
Transcript (Including UTRs)
   Position: hg19 chr3:132,136,553-132,257,876 Size: 121,324 Total Exon Count: 56 Strand: +
Coding Region
   Position: hg19 chr3:132,153,395-132,257,126 Size: 103,732 Coding Exon Count: 55 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr3:132,136,553-132,257,876)mRNA (may differ from genome)Protein (2243 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=DnaJ homolog subfamily C member 13; AltName: Full=Required for receptor-mediated endocytosis 8; Short=RME-8;
SIMILARITY: Contains 1 J domain.
SEQUENCE CAUTION: Sequence=AAH43583.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=BAA31653.2; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAC86133.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC86835.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC86835.1; Type=Erroneous termination; Positions=1651; Note=Translated as Glu;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DNAJC13
CDC HuGE Published Literature: DNAJC13
Positive Disease Associations: Apolipoproteins B , Coronary Artery Disease
Related Studies:
  1. Apolipoproteins B
    Sekar Kathiresan et al. BMC medical genetics 2007, A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903299]
    Using a 100K genome-wide scan, we have generated a set of putative associations for common sequence variants and lipid phenotypes. Validation of selected hypotheses in additional samples did not identify any new loci underlying variability in blood lipids. Lack of replication may be due to inadequate statistical power to detect modest quantitative trait locus effects (i.e., <1% of trait variance explained) or reduced genomic coverage of the 100K array. GWAS in FHS using a denser genome-wide genotyping platform and a better-powered replication strategy may identify novel loci underlying blood lipids.
  2. Coronary Artery Disease
    , , . [PubMed 0]
  3. Coronary Artery Disease
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: DNAJC13
Diseases sorted by gene-association score: hereditary late-onset parkinson disease* (350), senior-løken syndrome (18), dysautonomia (8), tremor (7), chronic tic disorder (7), nephronophthisis (2)
* = Manually curated disease association

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.52 RPKM in Cells - Transformed fibroblasts
Total median expression: 397.31 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.7065-0.457 Picture PostScript Text
3' UTR -166.21750-0.222 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
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR001623 - DnaJ_N
IPR025640 - DUF4339

Pfam Domains:
PF00226 - DnaJ domain
PF14237 - Domain of unknown function (DUF4339)

SCOP Domains:
48371 - ARM repeat
46565 - Chaperone J-domain
55277 - GYF domain

ModBase Predicted Comparative 3D Structure on O75165
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 BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  Protein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0001649 osteoblast differentiation
GO:0006898 receptor-mediated endocytosis
GO:0007032 endosome organization
GO:0015031 protein transport
GO:0043312 neutrophil degranulation
GO:1902954 regulation of early endosome to recycling endosome transport
GO:2000641 regulation of early endosome to late endosome transport

Cellular Component:
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005769 early endosome
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0030667 secretory granule membrane
GO:0031901 early endosome membrane
GO:0035577 azurophil granule membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular exosome
GO:0071203 WASH complex

-  Descriptions from all associated GenBank mRNAs
  AB014578 - Homo sapiens KIAA0678 mRNA for KIAA0678 protein.
AY779857 - Homo sapiens DnaJ domain-containing protein RME-8 mRNA, complete cds.
AB587310 - Synthetic construct DNA, clone: pF1KA0678, Homo sapiens DNAJC13 gene for DnaJ (Hsp40) homolog, subfamily C, member 13, without stop codon, in Flexi system.
AK127112 - Homo sapiens cDNA FLJ45169 fis, clone BRAWH3045118.
AK125330 - Homo sapiens cDNA FLJ43340 fis, clone NT2RI3007543.
AK023168 - Homo sapiens cDNA FLJ13106 fis, clone NT2RP3002455, highly similar to DnaJ homolog subfamily C member 13.
BC009630 - Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13, mRNA (cDNA clone IMAGE:3905917), partial cds.
BC000164 - Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13, mRNA (cDNA clone IMAGE:2900813), partial cds.
BC033782 - Homo sapiens cDNA clone IMAGE:4500158, containing frame-shift errors.
BC040638 - Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13, mRNA (cDNA clone IMAGE:5107059), partial cds.
BC065756 - Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13, mRNA (cDNA clone IMAGE:4305469).
BC105580 - Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13, mRNA (cDNA clone IMAGE:4291954), partial cds.
LF208602 - JP 2014500723-A/16105: Polycomb-Associated Non-Coding RNAs.
BC043583 - Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13, mRNA (cDNA clone IMAGE:5229049), partial cds.
JD062808 - Sequence 43832 from Patent EP1572962.
JD535317 - Sequence 516341 from Patent EP1572962.
JD504875 - Sequence 485899 from Patent EP1572962.
JD502140 - Sequence 483164 from Patent EP1572962.
JD239138 - Sequence 220162 from Patent EP1572962.
JD162152 - Sequence 143176 from Patent EP1572962.
JD548945 - Sequence 529969 from Patent EP1572962.
AK098729 - Homo sapiens cDNA FLJ25863 fis, clone CBR01847.
AY369172 - Homo sapiens RME8 (RME8) mRNA, partial cds.
LF378356 - JP 2014500723-A/185859: Polycomb-Associated Non-Coding RNAs.
JD528431 - Sequence 509455 from Patent EP1572962.
MA444179 - JP 2018138019-A/16105: Polycomb-Associated Non-Coding RNAs.
MA613933 - JP 2018138019-A/185859: Polycomb-Associated Non-Coding RNAs.
JD181995 - Sequence 163019 from Patent EP1572962.
JD184771 - Sequence 165795 from Patent EP1572962.
JD037845 - Sequence 18869 from Patent EP1572962.
JD301117 - Sequence 282141 from Patent EP1572962.
JD549915 - Sequence 530939 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75165 (Reactome details) participates in the following event(s):

R-HSA-6798739 Exocytosis of azurophil granule membrane proteins
R-HSA-6798743 Exocytosis of secretory granule membrane proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: DJC13_HUMAN, KIAA0678, NM_015268, NP_056083, O75165, Q3L0T1, Q6PI82, Q6UJ77, Q6ZSW1, Q6ZUT5, Q86XG3, Q96DC1, Q9BWK9, RME8
UCSC ID: uc003eor.3
RefSeq Accession: NM_015268
Protein: O75165 (aka DJC13_HUMAN)
CCDS: CCDS33857.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_015268.3
exon count: 56CDS single in 3' UTR: no RNA size: 7551
ORF size: 6732CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 13664.00frame shift in genome: no % Coverage: 99.95
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.