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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DNAJC13 Gene

protein-coding   GIFtS: 52
GCID: GC03P132136

DnaJ (Hsp40) Homolog, Subfamily C, Member 13

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
DnaJ (Hsp40) Homolog, Subfamily C, Member 131 2     DnaJ Domain-Containing Protein RME-82
Required For Receptor-Mediated Endocytosis 82 3     DnaJ Homolog Subfamily C Member 132
RME-82 3     KIAA06783
RME82 3     

External Ids:    HGNC: 303431   Entrez Gene: 233172   Ensembl: ENSG000001382467   OMIM: 6143345   UniProtKB: O751653   

Export aliases for DNAJC13 gene to outside databases

Previous GC identifers: GC03P133442 GC03P133665 GC03P129515


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for DNAJC13 Gene: 
DNAJC13 (DnaJ (Hsp40) homolog, subfamily C, member 13) is a protein-coding gene. Diseases associated with DNAJC13 include chronic tic disorder, and tic disorder. GO annotations related to this gene include heat shock protein binding.

Gene Wiki entry for DNAJC13 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DNAJC13 gene promoter:
         USF1   AML1a   POU3F2   Tal-1beta   NF-AT   NF-AT4   USF-1   ITF-2   Ik-1   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNAJC13 promoter sequence
   Search SABiosciences Chromatin IP Primers for DNAJC13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAJC13


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

Entrez Gene cytogenetic band: 3q22.1   Ensembl cytogenetic band:  3q22.1   HGNC cytogenetic band: 3q22.1

DNAJC13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAJC13 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P132136:  view genomic region     (about GC identifiers)

Start:
132,136,370 bp from pter      End:
132,257,876 bp from pter
Size:
121,507 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DJC13_HUMAN, O75165 (See protein sequence)
Recommended Name: DnaJ homolog subfamily C member 13  
Size: 2243 amino acids; 254415 Da
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;
Secondary accessions: Q3L0T1 Q6PI82 Q6UJ77 Q6ZSW1 Q6ZUT5 Q86XG3 Q96DC1 Q9BWK9

Explore the universe of human proteins at neXtProt for DNAJC13: NX_O75165

Explore proteomics data for DNAJC13 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75165

  • DNAJC13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DNAJC13 Protein Expression
    REFSEQ proteins: NP_056083.3  
    ENSEMBL proteins: 
     ENSP00000260818   ENSP00000421735   ENSP00000426240  

    Human Recombinant Protein Products for DNAJC13: 
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    Cloud-Clone Corp. Proteins for DNAJC13 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane IDA17897319

    DNAJC13 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    DNAJ: Heat shock proteins / DNAJ (HSP40)

    4 InterPro protein domains:
     IPR011989 ARM-like
     IPR001623 DnaJ_domain
     IPR016024 ARM-type_fold
     IPR025640 DUF4339

    Graphical View of Domain Structure for InterPro Entry O75165

    ProtoNet protein and cluster: O75165

    UniProtKB/Swiss-Prot: DJC13_HUMAN, O75165
    Similarity: Contains 1 J domain


    DNAJC13 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding ----
         
    DNAJC13 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DNAJC13:
     Decreased Salmonella enterica   Increased Salmonella enterica  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DNAJC13 
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    SwitchGear 3'UTR luciferase reporter plasmidDNAJC13 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNAJC13

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/608 Interacting proteins for DNAJC13 (O751652, 3 ENSP000002608184) via UniProtKB, MINT, STRING, and/or I2D (see all 608)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EGFRP005332, 3, ENSP000002754934MINT-8152874 MINT-8152886 I2D: score=1 STRING: ENSP00000275493
    DNAJB11Q9UBS42, 3MINT-8254221 I2D: score=2 
    GADD45AP245222, 3MINT-8255757 I2D: score=2 
    GSK3BP498412, 3MINT-8257108 I2D: score=2 
    RPS6KA6Q9UK322, 3MINT-8269813 I2D: score=2 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DNAJC13 (DJC13)

    Search CenterWatch for drugs/clinical trials and news about DNAJC13 / DJC13

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DNAJC13 gene: 
    NM_015268.3  

    Unigene Cluster for DNAJC13:

    DnaJ (Hsp40) homolog, subfamily C, member 13
    Hs.12707  [show with all ESTs]
    Unigene Representative Sequence: BC151246
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260818(uc003eor.3) ENST00000486798(uc010htq.2) ENST00000471925(uc003eos.1)
    ENST00000464766 ENST00000506813 ENST00000513822 ENST00000463038 ENST00000509279

    miRNA
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    8/37 QIAGEN miScript miRNA Assays for microRNAs that regulate DNAJC13 (see all 37):
    hsa-miR-3938 hsa-miR-520f hsa-miR-513a-5p hsa-miR-128 hsa-miR-200a hsa-miR-765 hsa-miR-30d hsa-miR-218
    SwitchGear 3'UTR luciferase reporter plasmidDNAJC13 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Additional mRNA sequence: 

    AB014578.2 AK023168.1 AK098729.1 AK125330.1 AK127112.1 AY369172.1 AY779857.1 BC000164.3 
    BC009630.1 BC033782.1 BC040638.2 BC043583.1 BC065756.1 BC105580.1 BC151246.1 

    10 DOTS entries:

    DT.99935621  DT.446823  DT.95301356  DT.95161750  DT.91713106  DT.92433769  DT.92433750  DT.120841542 
    DT.95120178  DT.91647528 

    24/200 AceView cDNA sequences (see all 200):

    BU195791 AI174620 AA913810 BG675611 BU630017 BM666239 BC009630 N48877 
    BU507688 BM557429 AA745248 AA361699 N58758 AA507052 F09582 AB014578 
    BI870420 CB158078 AA234225 AA767028 AA854088 AI459762 BM711256 H39910 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DNAJC13 expression in normal human tissues (normalized intensities)      DNAJC13 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTGTAGGGT
    DNAJC13 Expression
    About this image


    DNAJC13 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer

    See DNAJC13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNAJC13

    SOURCE GeneReport for Unigene cluster: Hs.12707
        SABiosciences Expression via Pathway-Focused PCR Array including DNAJC13: 
              Heat Shock Proteins & Chaperones in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAJC13

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DNAJC13 gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dnajc131 , 5 DnaJ (Hsp40) homolog, subfamily C, member 131, 5 89.63(n)1
    96.66(a)1
      9 (56.61 cM)5
    2355671  NM_001163026.11  NP_001156498.11 
     1041515975 
    chicken
    (Gallus gallus)
    Aves DNAJC131 DnaJ (Hsp40) homolog, subfamily C, member 13 82.69(n)
    92.09(a)
      420688  XM_418787.2  XP_418787.2 
    lizard
    (Anolis carolinensis)
    Reptilia DNAJC136
    DnaJ (Hsp40) homolog, subfamily C, member 13
    91(a)
    1 ↔ 1
    6(38044936-38152973)
    African clawed frog
    (Xenopus laevis)
    Amphibia BI313708.12   -- 79.82(n)    BI313708.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.140562 Transcribed sequence with weak similarity to protein more 72.48(n)    BI881871.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rme-81 Receptor mediated endocytosis 8 53.54(n)
    51.84(a)
      35939  NM_136623.1  NP_610467.1 
    worm
    (Caenorhabditis elegans)
    Secernentea rme-81 Protein RME-8 52.27(n)
    46.55(a)
      172594  NM_059821.3  NP_492222.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons GRV21 DNAJ heat shock N-terminal domain-containing protein 45.54(n)
    35.02(a)
      817230  NM_128246.4  NP_180257.3 
    rice
    (Oryza sativa)
    Liliopsida Os10g05752001 hypothetical protein 46.45(n)
    36.16(a)
      4349486  NM_001072011.1  NP_001065479.1 


    ENSEMBL Gene Tree for DNAJC13 (if available)
    TreeFam Gene Tree for DNAJC13 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2426 SNPs in DNAJC13 are shown (see all 2426)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs76514481,2
    C,H--132134582(+) ATTTTC/GCACTA 1 -- us2k115Minor allele frequency- G:0.00NS EA NA WA CSA 560
    rs1911088171,2
    --132134618(+) CCTAAA/GGCTCC 1 -- us2k10--------
    rs1167937011,2
    C,F--132134636(+) ACGAGA/GATTGA 1 -- us2k11Minor allele frequency- G:0.02WA 118
    rs1821984521,2
    --132134679(+) AGTGTA/GGAGGT 1 -- us2k10--------
    rs1877495361,2
    --132134809(+) AAAATA/CGAAAT 1 -- us2k10--------
    rs1932382711,2
    --132134810(+) AAATCA/GAAATA 1 -- us2k10--------
    rs1856678431,2
    --132134857(+) CTTTGG/TAACCA 1 -- us2k10--------
    rs1487757711,2
    --132134944(+) CCTCCC/TTTCCT 1 -- us2k10--------
    rs1424382621,2
    --132134991(+) TTCCTA/GGTACC 1 -- us2k10--------
    rs1901297111,2
    --132135154(+) CAATCA/GCTGTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for DNAJC13 (132136370 - 132257876 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DNAJC13:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv522333CNV Loss19592680
    nsv4013CNV Loss18451855
    nsv829728CNV Gain17160897

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 614334    OMIM disorders: --

    5 diseases for DNAJC13:    About MalaCards
    chronic tic disorder    tic disorder    senior-loken syndrome    nephronophthisis
    leber congenital amaurosis

    2 diseases from the University of Copenhagen DISEASES database for DNAJC13:
    Gilles de la Tourette syndrome     Chronic tic disorder

    DNAJC13 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DNAJC13
    Human Genome Epidemiology (HuGE) Navigator: DNAJC13 (1 document)

    Export disorders for DNAJC13 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DNAJC13 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with DNAJC13)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DnaJ-domain protein RME-8 functions in endosomal trafficking. (PubMed id 16179350)1, 2 Girard M.... McPherson P.S. (2005)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Candidate gene analysis of KIAA0678 encoding a DnaJ-like protein for adolescent nephronophthisis and Senior-Loken syndrome type 3. (PubMed id 12438707)1, 3 Volz A....Omran H. (2002)
    5. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)1, 2 Ishikawa K.... Ohara O. (1998)
    6. Quantitative study of the interactome of PKCz involved in the EGF-induced tumor cell chemotaxis. (PubMed id 23402259)1 Chen R....Zhang N. (2013)
    7. Analysis of the MRPL3, DNAJC13 and OFCC1 variants in C hinese Han patients with TS-CTD. (PubMed id 22507240)1 Guo Y....Deng H. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23317 HGNC: 30343 AceView: DNAJC13 Ensembl:ENSG00000138246 euGenes: HUgn23317
    ECgene: DNAJC13 H-InvDB: DNAJC13

    (According to HUGE)
    About This Section
    HUGE: KIAA0678

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DNAJC13 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DNAJC13 gene:
    Search GeneIP for patents involving DNAJC13

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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