Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

DNAJC5 Gene

protein-coding   GIFtS: 63
GCID: GC20P062526

DnaJ (Hsp40) homolog, subfamily C, member 5

(Previous names: ceroid-lipofuscinosis, neuronal 4 (Kufs disease) )
(Previous symbol: CLN4)
 Explore 14 diseases affiliated with
DNAJC5 via our new
 Human Malady Compendium 
Biological research products
for DNAJC5
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
DnaJ (Hsp40) Homolog, Subfamily C, Member 51 2     Ceroid-Lipofuscinosis, Neuronal 4 (Kufs Disease)1
CLN41 2     CLN4B2
DNAJC5A1 2     NCL2
CSP2 3     Cysteine String Protein Alpha2
FLJ001181     DnaJ Homolog Subfamily C Member 52
FLJ130701     Cysteine String Protein3

External Ids:    HGNC: 162351   Entrez Gene: 803312   Ensembl: ENSG000001011527   OMIM: 6112035   UniProtKB: Q9H3Z43   

Export aliases for DNAJC5 gene to outside databases

Previous GC identifers: GC20P062404 GC20P063238 GC20P063252 GC20P063277 GC20P061996 GC20P059293


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

Entrez Gene summary for DNAJC5:
This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase
activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding,
and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic
fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. (provided by
RefSeq, Nov 2010)

UniProtKB/Swiss-Prot: DNJC5_HUMAN, Q9H3Z4
Function: May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter
release at nerve endings (By similarity)

Gene Wiki entry for DNAJC5


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  NT_011333.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DNAJC5 gene promoter:
         p53   Pax-2   FOXD3   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Pax-2a   POU6F1 (c2)   POU3F2   Pax-2b   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDNAJC5 promoter sequence
   Search SABiosciences Chromatin IP Primers for DNAJC5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAJC5


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

Entrez Gene cytogenetic band: 20q13.33   Ensembl cytogenetic band:  20q13.33   HGNC cytogenetic band: 20q13.33

DNAJC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DNAJC5 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P062526:  view genomic region     (about GC identifiers)

Start:
62,526,518 bp from pter      End:
62,567,384 bp from pter
Size:
40,867 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DNJC5_HUMAN, Q9H3Z4 (See protein sequence)
Recommended Name: DnaJ homolog subfamily C member 5  
Size: 198 amino acids; 22149 Da
Subunit: Homodimer (Probable). Interacts with the chaperone complex consisting of HSC70 and SGTA (By similarity)
Subcellular location: Membrane; Lipid-anchor (By similarity). Melanosome. Cell membrane. Note=Identified by mass
spectrometry in melanosome fractions from stage I to stage IV
Secondary accessions: A8K0M0 B3KY68 E1P5G8 Q9H3Z5 Q9H7H2
Alternative splicing: 2 isoforms:  Q9H3Z4-1   Q9H3Z4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DNAJC5: NX_Q9H3Z4

Post-translational modifications:

  • Fatty acylated. Heavily palmitoylated in the cysteine string motif (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H3Z4

  • DNAJC5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_079495.1  
    ENSEMBL proteins: 
     ENSP00000354111   ENSP00000434744   ENSP00000358927  
    Reactome Protein details: Q9H3Z4
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: DNAJC5
    OriGene Protein Over-expression Lysate: DNAJC5
    OriGene Custom Protein Services for DNAJC5 
    GenScript Custom Purified and Recombinant Proteins Services for DNAJC5
    Novus Biologicals DNAJC5 Protein
    Novus Biologicals DNAJC5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for DNAJC5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008021synaptic vesicle IEA--
    GO:0042470melanosome IEA--
    GO:0061202clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane TAS--


    DNAJC5 for ontologies           About GeneDecksing



    DNAJC5 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of DNAJC5
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for DNAJC5 
    GenScript Custom Superior Antibodies Services for DNAJC5
    Novus Biologicals DNAJC5 Antibodies
    Search for Antibodies for DNAJC5 at Abcam  
    Uscn Antibodies for DNAJC5
    ThermoFisher Antibody for DNAJC5

    Assay Products for DNAJC5: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for DNAJC5
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for DNAJC5


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

    DNAJC5 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001623 DnaJ_domain
     IPR018253 DnaJ_domain_CS

    Graphical View of Domain Structure for InterPro Entry Q9H3Z4

    ProtoNet protein and cluster: Q9H3Z4

    UniProtKB/Swiss-Prot: DNJC5_HUMAN, Q9H3Z4
    Similarity: Contains 1 J domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DNJC5_HUMAN, Q9H3Z4
    Function: May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter
    release at nerve endings (By similarity)

    miRNA
    Products:
        
    miRTarBase miRNAs that target DNAJC5:
    hsa-mir-30a (MIRT005204)

    OriGene 3'-UTR Clone: DNAJC5
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DNAJC5
    8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate DNAJC5 (see all 35):
    hsa-miR-429 hsa-miR-139-5p hsa-miR-570 hsa-miR-889 hsa-miR-200b hsa-miR-192* hsa-miR-509-3-5p hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidDNAJC5 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNAJC5 (see all 7)
    OriGene shRNA RFP: DNAJC5
    OriGene siRNA: DNAJC5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNAJC5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DNAJC5

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAJC5 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAJC5
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: DNAJC5 (NM_025219)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNAJC5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAJC5 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for DNAJC5
    Search LifeMap BioReagents cell lines for DNAJC5

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAJC5

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001948glycoprotein binding IEA--
    GO:0031072heat shock protein binding IEA--
    GO:0043008ATP-dependent protein binding IEA--
    GO:0051082unfolded protein binding IEA--


    DNAJC5 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Dnajc5tm1Sud for DNAJC5
         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dnajc5):
     behavior/neurological  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  reproductive system  vision/eye 

    DNAJC5 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1GABA synthesis, release, reuptake and degradation
    GABA synthesis, release, reuptake and degradation1.00
    Neurotransmitter Release Cycle0.53
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses1.00
    Neuronal System0.67
    3Regulation of degradation of wt-CFTR
    Regulation of degradation of wt-CFTR1.00
    Regulation of degradation of deltaF508 CFTR in CF0.59
    4Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
    Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)1.00
    5Calcium channels
    Calcium channels1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for DNAJC5
        Calcium channels


    3 GeneGo (Thomson Reuters) Pathways for DNAJC5
        Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
    Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt-CFTR

    4        Reactome Pathways for DNAJC5
        Transmission across Chemical Synapses
    GABA synthesis, release, reuptake and degradation
    Neurotransmitter Release Cycle
    Neuronal System


    1         Kegg Pathway  (Kegg details for DNAJC5):
        Protein processing in endoplasmic reticulum


    DNAJC5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DNAJC5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    5/24 Interacting proteins for DNAJC5 (Q9H3Z43 ENSP000003541114) via UniProtKB, MINT, STRING, and/or I2D (see all 24)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CFTRP135693, ENSP000000030844I2D: score=4 STRING: ENSP00000003084
    VAMP7P518093, ENSP000002864484I2D: score=2 STRING: ENSP00000286448
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    HSPA8P111423, ENSP000002273784I2D: score=1 STRING: ENSP00000227378
    VAMP2P630273, ENSP000003142144I2D: score=1 STRING: ENSP00000314214
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006457protein folding IEA--
    GO:0007268synaptic transmission TAS--
    GO:0007269neurotransmitter secretion TAS--
    GO:0008219cell death IEA--
    GO:0043524negative regulation of neuron apoptotic process IEA--


    DNAJC5 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    DNAJC5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DNAJC5

    1 HMDB Compound for DNAJC5    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    5 Novoseek chemical compound relationships for DNAJC5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    csp-1 94.5 2 15610015 (1), 11148145 (1)
    csp-2 87.6 3 10194413 (1), 11148145 (1)
    cysteine 69.8 21 14570907 (2), 9662647 (2), 10662817 (2), 11790807 (1) (see all 15)
    calcium 36.1 34 15745946 (4), 10215934 (4), 14570907 (3), 9547232 (3) (see all 12)
    palmitate 27.4 2 9761715 (1)

    Search CenterWatch for drugs/clinical trials and news about DNAJC5 / DNJC5 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for DNAJC5 gene: 
    NM_025219.2  

    Unigene Cluster for DNAJC5:

    DnaJ (Hsp40) homolog, subfamily C, member 5
    Hs.164419  [show with all ESTs]
    Unigene Representative Sequence: NM_025219
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360864(uc002yhf.3) ENST00000470551(uc002yhh.3) ENST00000369911


    miRNA
    Products:
         
    OriGene 3'-UTR Clone: DNAJC5
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DNAJC5
    8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate DNAJC5 (see all 35):
    hsa-miR-429 hsa-miR-139-5p hsa-miR-570 hsa-miR-889 hsa-miR-200b hsa-miR-192* hsa-miR-509-3-5p hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidDNAJC5 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNAJC5 (see all 7)
    OriGene shRNA RFP: DNAJC5
    OriGene siRNA: DNAJC5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNAJC5
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAJC5 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAJC5
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: DNAJC5 (NM_025219)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DNAJC5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAJC5 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNAJC5
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DNAJC5
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAJC5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAJC5

    Additional cDNA sequence: 

    AK023132.1 AK074041.1 AK128776.1 AK289585.1 AL137301.1 BC009922.2 BC028570.2 BC053642.1 
    CR627461.1 

    17 DOTS entries:

    DT.91772553  DT.100784624  DT.70100251  DT.101962587  DT.97835319  DT.91772550  DT.120803981  DT.100784625 
    DT.100784628  DT.100812187  DT.120804003  DT.95114287  DT.100812186  DT.120804082  DT.91986389  DT.95135261 
    DT.95135323 

    24/426 AceView cDNA sequences (see all 426):

    BU543604 BM998852 BQ055599 F07778 AI274937 BQ924743 CB216260 BU741450 
    CF272533 CF125015 AI453617 F01724 BQ182387 BM992818 Z42195 BQ477300 
    BU541975 AK024508 CA309450 BQ437922 BQ876608 BG682093 T16439 AI123903 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC5    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b
    SP1:                    -                                   -               
    SP2:              -     -                                                   
    SP3:                    -                                                   
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for DNAJC5

    (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

    DNAJC5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGATCTCCG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See DNAJC5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DNAJC5

    SOURCE GeneReport for Unigene cluster: Hs.164419

    UniProtKB/Swiss-Prot: DNJC5_HUMAN, Q9H3Z4
    Tissue specificity: Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart

        SABiosciences Expression via Pathway-Focused PCR Arrays including DNAJC5: 
              Hypoxia Signaling Pathway in human mouse rat
              Cellular Stress Responses in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Heat Shock Proteins & Chaperones in human mouse rat

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNAJC5
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DNAJC5
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAJC5
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAJC5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAJC5

    (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 animals.

    Orthologs for DNAJC5 gene from 5/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves DNAJC51 DnaJ (Hsp40) homolog, subfamily C, member 5 80.81(n)
    95.45(a)
      419256  XM_417428.3  XP_417428.1 
    lizard
    (Anolis carolinensis)
    Reptilia DNAJC56
    --
    96(a)
    1 ↔ 1
    4(156152262-156166650)
    zebrafish
    (Danio rerio)
    Actinopterygii dnajc5aa1 DnaJ (Hsp40) homolog, subfamily C, member 5aa 76.07(n)
    86.15(a)
      386768  NM_001002464.1  NP_001002464.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Csp1 , 3 exocytosis chaperone3
    Cysteine string protein1
    77(a)3
    60.45(n)1
    58.03(a)1
      404591  NM_168950.31  NP_730714.21 
    worm
    (Caenorhabditis elegans)
    Secernentea dnj-141 Protein DNJ-14 56.39(n)
    51.57(a)
      180746  NM_076405.3  NP_508806.1 


    ENSEMBL Gene Tree for DNAJC5 (if available)
    TreeFam Gene Tree for DNAJC5 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DNAJC5 gene
    DNAJC5B2  DNAJC5G2  
    5 SIMAP similar genes for DNAJC5 using alignment to 1 protein entry:     DNJC5_HUMAN:
    DKFZp761N1221    FLJ00095    DNAJC5B    DNAJB6    DNAJC5G

    DNAJC5 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DNAJC5
    PGOHUM00000257183


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/930 NCBI SNPs in DNAJC5 are shown (see all 930    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs774462571,2
    F,--59282647(+) TTGCTG/ATGACG 1 -- us2k11Minor allele frequency- A:0.07NA 120
    rs61220421,2
    H--59282738(+) CGCGCC/ATGctg 1 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs731365631,2
    C,--59283712(+) GTTGGC/TCACAG 1 -- us2k10--------
    rs1155063801,2
    C,F,--59283935(+) GCTGCC/TGCAGG 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs72621251,2
    C,A--59284141(+) AGGACG/ACACCC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1131347091,2
    C--59284144(+) ACGCAC/TCCGGC 1 -- us2k10--------
    rs72687851,2
    C--59284156(+) GTGTGG/CACATG 1 -- us2k11Minor allele frequency- C:0.50WA 2
    rs1112465221,2
    C,F--59284398(+) GGCCCG/AGGACA 1 -- ds50012Minor allele frequency- A:0.50NA WA 4
    rs1135871301,2
    C,F--59284460(+) GCTGTG/ATGCAC 1 -- ds50012Minor allele frequency- A:0.50NA WA 4
    rs346045191,2
    C--59284519(+) GTGTGG/CACATG 1 -- ds50012Minor allele frequency- C:0.00NA WA 4

    HapMap Linkage Disequilibrium report for DNAJC5 (62526518 - 62567384 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for DNAJC5
         1 CNV: 2252
         1 Indel: 33356
    Human Gene Mutation Database (HGMD): DNAJC5

    Locus Specific Mutation Databases (LSDB): DNAJC5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNAJC5
    DNA2.0 Custom Variant and Variant Library Synthesis for DNAJC5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    DNAJC5 for disorders           About GeneDecksing

    OMIM gene information: 611203    OMIM disorders: --

    UniProtKB/Swiss-Prot: DNJC5_HUMAN, Q9H3Z4
  • Defects in DNAJC5 are the cause of neuronal ceroid lipofuscinosis type 4B (CLN4B) [MIM:162350]. An adult-onset
  • neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage
    diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by
    seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by
    seizures and other neurologic symptoms

    14 diseases for DNAJC5:    About MalaCards
    ceroid lipofuscinosis    cystic fibrosis    neuronal ceroid-lipofuscinoses    fibrosis
    neuronal ceroid-lipofuscinosis    lysosomal storage disease    huntington's disease    neuronitis
    paralysis    cerebral atrophy    cerebritis    dementia
    malaria    adult neuronal ceroid lipofuscinosis

    1 disease from the University of Copenhagen DISEASES database for DNAJC5:
    Neuronal ceroid lipofuscinosis

    4 Novoseek disease relationships for DNAJC5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystic fibrosis 34.4 3 16469739 (1), 19098309 (1)
    shock 33.2 4 14570907 (1), 18410159 (1), 16055447 (1)
    paralysis 28.5 3 7946336 (1), 8310297 (1), 11935231 (1)
    malaria 23 1 16871327 (1)


    Export disorders for DNAJC5 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 DNAJC5 gene, integrated from 9 sources (see all 84):
    (articles sorted by number of sources associating them with DNAJC5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Widespread expression of human cysteine string proteins. (PubMed id 8764987)1, 2, 9 Coppola T. and Gundersen C. (1996)
    2. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. (PubMed id 21820099)1, 2 Noskova L.... Kmoch S. (2011)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Identification and characterization of phosphorylated proteins in the human pituitary. (PubMed id 14997482)1, 2 Giorgianni F.... Desiderio D.M. (2004)
    5. 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)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    7. Characterization of long cDNA clones from human adult spleen. (PubMed id 11214971)1, 2 Hattori A.... Ohara O. (2000)
    8. Cysteine string protein monitors late steps in cystic fibrosis transmembrane conductance regulator biogenesis. (PubMed id 16469739)1, 9 Zhang H....Frizzell R.A. (2006)
    9. Cysteine string protein interacts with and modulates the maturation of the cystic fibrosis transmembrane conductance regulator. (PubMed id 12039948)1, 9 Zhang H....Frizzell R.A. (2002)
    10. Cysteine string protein (CSP) inhibition of N-type calcium channels is blocked by mutant huntingtin. (PubMed id 14570907)1, 9 Miller L.C....Braun J.E. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80331 HGNC: 16235 AceView: DNAJC5 Ensembl:ENSG00000101152 euGenes: HUgn80331
    ECgene: DNAJC5 Kegg: 80331 H-InvDB: DNAJC5

    (According to HUGE)
    About This Section
      --

    (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 DNAJC5 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 DNAJC5 gene:
    Search GeneIP for patents involving DNAJC5

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of DNAJC5
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Small Molecules at EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for DNAJC5  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DNAJC5   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNAJC5  
     OriGene Protein Over-expression Lysate for DNAJC5   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for DNAJC5   OriGene 3'-UTR Clone for DNAJC5  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNAJC5   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNAJC5  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for DNAJC5   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for DNAJC5   OriGene Custom Protein Services for DNAJC5  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DNAJC5
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNAJC5
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAJC5
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNAJC5
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNAJC5
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNAJC5
     GenScript Custom Purified and Recombinant Proteins Services for DNAJC5 GenScript cDNA clones with any tag delivered in your preferred vector for DNAJC5
     GenScript Custom Assay Services for DNAJC5 GenScript Custom Superior Antibodies Services for DNAJC5
     GenScript Custom overexpressing Cell Line Services for DNAJC5 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in DNAJC5 promoter
     Search Chromatin IP Primers for DNAJC5
     RT2 qPCR Primer Assay in human, mouse, rat DNAJC5
     GNC Network for DNAJC5
     SABiosciences PCR Arrays including human, mouse, rat DNAJC5
     Search Tocris compounds for DNAJC5
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     DNAJC5 antibodies
     DNAJC5 proteins
     DNAJC5 lysates
     Search for Antibodies for DNAJC5 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for DNAJC5
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     DNAJC5 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for DNAJC5
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAJC5
     SwitchGear 3'UTR luciferase reporter plasmids for DNAJC5
     SwitchGear Promoter luciferase reporter plasmids for DNAJC5
     ThermoFisher Antibody for DNAJC5
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNAJC5
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      DNAJC5 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4