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Aliases for DNAJC5 Gene

Aliases for DNAJC5 Gene

  • DnaJ Heat Shock Protein Family (Hsp40) Member C5 2 3 5
  • DnaJ (Hsp40) Homolog, Subfamily C, Member 5 2 3
  • Ceroid-Lipofuscinosis Neuronal Protein 4 3 4
  • CLN4 3 4
  • CSP 3 4
  • Ceroid-Lipofuscinosis, Neuronal 4 (Kufs Disease) 2
  • DnaJ Homolog Subfamily C Member 5 3
  • Cysteine String Protein Alpha 3
  • Cysteine String Protein 4
  • Mir-941-2 3
  • Mir-941-3 3
  • Mir-941-4 3
  • Mir-941-5 3
  • DNAJC5A 3
  • CLN4B 3
  • NCL 3

External Ids for DNAJC5 Gene

Previous HGNC Symbols for DNAJC5 Gene

  • CLN4

Previous GeneCards Identifiers for DNAJC5 Gene

  • GC20P062404
  • GC20P063238
  • GC20P063252
  • GC20P063277
  • GC20P061996
  • GC20P062526
  • GC20P059293

Summaries for DNAJC5 Gene

Entrez Gene Summary for DNAJC5 Gene

  • 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]

GeneCards Summary for DNAJC5 Gene

DNAJC5 (DnaJ Heat Shock Protein Family (Hsp40) Member C5) is a Protein Coding gene. Diseases associated with DNAJC5 include Ceroid Lipofuscinosis, Neuronal, 4, Parry Type and Cln4 Disease. Among its related pathways are Innate Immune System and Neurotransmitter Release Cycle. GO annotations related to this gene include glycoprotein binding and ATP-dependent protein binding. An important paralog of this gene is DNAJC5B.

UniProtKB/Swiss-Prot for DNAJC5 Gene

  • Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of exocytosis (By similarity). 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 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJC5 Gene

Genomics for DNAJC5 Gene

Regulatory Elements for DNAJC5 Gene

Enhancers for DNAJC5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G063853 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.1 -39.9 -39921 3.5 HDGF ATF1 PKNOX1 AGO1 DMAP1 ZNF48 TCF12 ZNF766 GATA2 ZNF207 ZBTB46 ZBTB46-AS1 DNAJC5 UCKL1 ABHD16B HELZ2 GC20M063809
GH20G063845 1.6 Ensembl ENCODE dbSUPER 11.1 -47.8 -47776 3.3 HDGF FOXA2 PKNOX1 ARNT AGO1 ARID4B SIN3A YBX1 FEZF1 DMAP1 TNFRSF6B PCMTD2 MIR647 RTEL1 ZNF512B UCKL1 ZBTB46-AS1 DNAJC5 PRPF6 C20orf204
GH20G063863 1.4 ENCODE dbSUPER 12 -30.2 -30231 3.6 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3 PRPF6 DNAJC5 ZBTB46 ZBTB46-AS1 LIME1 SLC2A4RG ENSG00000229299 ZGPAT ABHD16B ENSG00000268858
GH20G063872 1.3 Ensembl ENCODE dbSUPER 12.6 -21.3 -21314 2.2 CTCF JUN ZSCAN4 MAX YBX1 RAD21 HIC1 ZNF316 FOXK2 FOS DNAJC5 C20orf181 MIR647 UCKL1 ZBTB46 ZBTB46-AS1 RNU1-134P FNDC11 SRMS TPD52L2
GH20G063939 1.2 Ensembl ENCODE 12.1 +46.9 46882 4.0 HDGF PKNOX1 AGO1 SIN3A GLIS2 ELK1 FOS KLF7 ZNF202 SP3 RNU1-134P DNAJC5 MIR647 ZNF512B SAMD10 PRPF6 ABHD16B MIR1914
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DNAJC5 on UCSC Golden Path with GeneCards custom track

Promoters for DNAJC5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000139973 298 2001 HDGF PKNOX1 AGO1 ARID4B SIN3A DMAP1 SLC30A9 ZNF766 ZNF143 SP3

Genomic Location for DNAJC5 Gene

Chromosome:
20
Start:
63,895,102 bp from pter
End:
63,936,031 bp from pter
Size:
40,930 bases
Orientation:
Plus strand

Genomic View for DNAJC5 Gene

Genes around DNAJC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DNAJC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DNAJC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DNAJC5 Gene

Proteins for DNAJC5 Gene

  • Protein details for DNAJC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H3Z4-DNJC5_HUMAN
    Recommended name:
    DnaJ homolog subfamily C member 5
    Protein Accession:
    Q9H3Z4
    Secondary Accessions:
    • A8K0M0
    • B3KY68
    • E1P5G8
    • Q9H3Z5
    • Q9H7H2

    Protein attributes for DNAJC5 Gene

    Size:
    198 amino acids
    Molecular mass:
    22149 Da
    Quaternary structure:
    • Oligomers (PubMed:27452402). Homodimer (By similarity). Interacts with the chaperone complex consisting of HSC70 and SGTA (By similarity). Interacts with ZDHHC13 (via ANK repeats) (By similarity). Interacts with ZDHHC17 (via ANK repeats) (By similarity). Interacts with SYT1, SYT5 and SYT7, and with SYT9, forming a complex with SNAP25 (By similarity).
    Miscellaneous:
    • Upon phosphorylation, Ser-10 interacts with Lys-58, a highly conserved residue in DnaJ proteins that is also a ubiquitination site in DNAJC5.

    Three dimensional structures from OCA and Proteopedia for DNAJC5 Gene

    Alternative splice isoforms for DNAJC5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAJC5 Gene

Post-translational modifications for DNAJC5 Gene

  • Fatty acylated (By similarity). Heavily palmitoylated in the cysteine string motif (By similarity).
  • Ser-10 phosphorylation induces an order-to-disorder transition triggering the interaction with Lys-58 (PubMed:27452402). This conformational switch modulates DNAJC5s cellular functions by reducing binding to syntaxin and synaptogamin without altering HSC70 interactions (PubMed:27452402).
  • Ubiquitination at Lys58
  • Modification sites at PhosphoSitePlus

Other Protein References for DNAJC5 Gene

Antibody Products

No data available for DME Specific Peptides for DNAJC5 Gene

Domains & Families for DNAJC5 Gene

Gene Families for DNAJC5 Gene

Protein Domains for DNAJC5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DNAJC5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DNAJC5: view

No data available for UniProtKB/Swiss-Prot for DNAJC5 Gene

Function for DNAJC5 Gene

Molecular function for DNAJC5 Gene

UniProtKB/Swiss-Prot Function:
Acts as a general chaperone in regulated exocytosis (By similarity). Acts as a co-chaperone for the SNARE protein SNAP-25 (By similarity). Involved in the calcium-mediated control of a late stage of exocytosis (By similarity). May have an important role in presynaptic function. May be involved in calcium-dependent neurotransmitter release at nerve endings (By similarity).

Gene Ontology (GO) - Molecular Function for DNAJC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IEA --
GO:0043008 ATP-dependent protein binding IEA --
genes like me logo Genes that share ontologies with DNAJC5: view
genes like me logo Genes that share phenotypes with DNAJC5: view

Animal Models for DNAJC5 Gene

MGI Knock Outs for DNAJC5:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DNAJC5 Gene

Localization for DNAJC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DNAJC5 Gene

Membrane; Lipid-anchor. Melanosome. Cell membrane. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269 PubMed:17081065}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DNAJC5 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 5
lysosome 5
cytosol 3
cytoskeleton 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for DNAJC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20833797
GO:0005765 lysosomal membrane IDA 17897319
GO:0005886 plasma membrane TAS --
GO:0008021 synaptic vesicle IEA --
GO:0016020 membrane IDA,IEA 19946888
genes like me logo Genes that share ontologies with DNAJC5: view

Pathways & Interactions for DNAJC5 Gene

genes like me logo Genes that share pathways with DNAJC5: view

SIGNOR curated interactions for DNAJC5 Gene

Other effect:

Gene Ontology (GO) - Biological Process for DNAJC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006887 exocytosis NAS 10099709
GO:0007269 neurotransmitter secretion TAS --
GO:0016079 synaptic vesicle exocytosis TAS 10099709
GO:0043312 neutrophil degranulation TAS --
GO:0043524 negative regulation of neuron apoptotic process IEA --
genes like me logo Genes that share ontologies with DNAJC5: view

Drugs & Compounds for DNAJC5 Gene

(2) Drugs for DNAJC5 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(3) Additional Compounds for DNAJC5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DNAJC5: view

Transcripts for DNAJC5 Gene

mRNA/cDNA for DNAJC5 Gene

Unigene Clusters for DNAJC5 Gene

DnaJ (Hsp40) homolog, subfamily C, member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DNAJC5 Gene

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

Relevant External Links for DNAJC5 Gene

GeneLoc Exon Structure for
DNAJC5
ECgene alternative splicing isoforms for
DNAJC5

Expression for DNAJC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DNAJC5 Gene

Protein differential expression in normal tissues from HIPED for DNAJC5 Gene

This gene is overexpressed in Brain (22.7) and Frontal cortex (13.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DNAJC5 Gene



Protein tissue co-expression partners for DNAJC5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DNAJC5 Gene:

DNAJC5

SOURCE GeneReport for Unigene cluster for DNAJC5 Gene:

Hs.164419

mRNA Expression by UniProt/SwissProt for DNAJC5 Gene:

Q9H3Z4-DNJC5_HUMAN
Tissue specificity: Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart.

Evidence on tissue expression from TISSUES for DNAJC5 Gene

  • Nervous system(4.9)
  • Liver(4.2)
  • Spleen(4.2)
  • Blood(4.1)
  • Lung(2.7)
  • Eye(2.2)
  • Adrenal gland(2.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DNAJC5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with DNAJC5: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DNAJC5 Gene

Orthologs for DNAJC5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DNAJC5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DNAJC5 34 35
  • 99.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DNAJC5 35
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DNAJC5 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DNAJC5 34 35
  • 90.57 (n)
dog
(Canis familiaris)
Mammalia DNAJC5 34 35
  • 90.24 (n)
mouse
(Mus musculus)
Mammalia Dnajc5 34 16 35
  • 88.22 (n)
rat
(Rattus norvegicus)
Mammalia Dnajc5 34
  • 88.05 (n)
chicken
(Gallus gallus)
Aves DNAJC5 34 35
  • 80.98 (n)
lizard
(Anolis carolinensis)
Reptilia DNAJC5 35
  • 95 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii dnajc5ab 35
  • 77 (a)
OneToMany
dnajc5aa 34 35
  • 76.07 (n)
fruit fly
(Drosophila melanogaster)
Insecta Csp 36 34 35
  • 67.92 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007620 34
  • 62.75 (n)
worm
(Caenorhabditis elegans)
Secernentea dnj-14 35
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SIS1 35
  • 15 (a)
OneToMany
CWC23 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8441 35
  • 49 (a)
OneToMany
Species where no ortholog for DNAJC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DNAJC5 Gene

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

Paralogs for DNAJC5 Gene

(5) SIMAP similar genes for DNAJC5 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for DNAJC5 Gene

genes like me logo Genes that share paralogs with DNAJC5: view

Variants for DNAJC5 Gene

Sequence variations from dbSNP and Humsavar for DNAJC5 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs387907043 Pathogenic, Ceroid lipofuscinosis, neuronal, 4B (CLN4B) [MIM:162350] 63,930,873(+) CGGCC(G/T)CCTCA nc-transcript-variant, reference, missense
rs587776892 Pathogenic 63,930,875(+) GCCTC(-/CTC)ACGTG nc-transcript-variant, cds-indel
rs1051821 Likely benign 63,935,000(+) GACAC(A/G)AAATG nc-transcript-variant, utr-variant-3-prime
rs1064345 Likely benign 63,932,463(+) CACAC(C/G)TGTCC nc-transcript-variant, utr-variant-3-prime
rs112103063 Likely benign 63,934,169(+) TAAGG(C/T)TTTGT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for DNAJC5 Gene

Variant ID Type Subtype PubMed ID
esv3646330 CNV loss 21293372
nsv1136335 CNV deletion 24896259
nsv428381 CNV gain+loss 18775914
nsv469773 CNV gain 16826518
nsv509784 CNV insertion 20534489
nsv586695 CNV loss 21841781
nsv828805 CNV loss 20364138
nsv9829 CNV gain 18304495

Variation tolerance for DNAJC5 Gene

Residual Variation Intolerance Score: 27.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.14; 3.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DNAJC5 Gene

Human Gene Mutation Database (HGMD)
DNAJC5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DNAJC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DNAJC5 Gene

Disorders for DNAJC5 Gene

MalaCards: The human disease database

(13) MalaCards diseases for DNAJC5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ceroid lipofuscinosis, neuronal, 4, parry type
  • ceroid lipofuscinosis, neuronal, 4b, autosomal dominant
cln4 disease
  • adult neuronal ceroid lipofuscinosis
neuronal ceroid-lipofuscinoses
  • neuronal ceroid-lipofuscinosis, infantile
adult neuronal ceroid lipofuscinosis
  • adult ncl
neuronal ceroid lipofuscinosis
  • hereditary ceroid lipofuscinosis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DNJC5_HUMAN
  • Ceroid lipofuscinosis, neuronal, 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. {ECO:0000269 PubMed:21820099, ECO:0000269 PubMed:22073189, ECO:0000269 PubMed:22235333, ECO:0000269 PubMed:22902780, ECO:0000269 PubMed:22978711}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DNAJC5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DNAJC5
genes like me logo Genes that share disorders with DNAJC5: view

No data available for Genatlas for DNAJC5 Gene

Publications for DNAJC5 Gene

  1. Widespread expression of human cysteine string proteins. (PMID: 8764987) Coppola T. … Gundersen C. (FEBS Lett. 1996) 3 4 22 64
  2. Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. (PMID: 22978711) Cadieux-Dion M. … Cossette P. (Clin. Genet. 2013) 3 4 64
  3. Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. (PMID: 22902780) Greaves J. … Chamberlain L.H. (J. Biol. Chem. 2012) 3 4 64
  4. Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. (PMID: 22235333) Velinov M. … ZA1chner S. (PLoS ONE 2012) 3 4 64
  5. Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. (PMID: 21820099) Noskova L. … Kmoch S. (Am. J. Hum. Genet. 2011) 3 4 64

Products for DNAJC5 Gene

Sources for DNAJC5 Gene

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