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Aliases for DNAJC5 Gene

Aliases for DNAJC5 Gene

  • 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
  • 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 (Hsp40) Homolog, Subfamily C, Member 5) is a Protein Coding gene. Diseases associated with DNAJC5 include ceroid lipofuscinosis, neuronal, 4, parry type and cln4 disease. Among its related pathways are Translational Control and Development Slit-Robo signaling. GO annotations related to this gene include glycoprotein binding and ATP-dependent protein binding. An important paralog of this gene is DNAJB7.

UniProtKB/Swiss-Prot for DNAJC5 Gene

  • 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DNAJC5 Gene

Genomics for DNAJC5 Gene

Regulatory Elements for DNAJC5 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • Homodimer. Interacts with the chaperone complex consisting of HSC70 and SGTA. Interacts with ZDHHC13 (via ANK repeats). Interacts with ZDHHC17 (via ANK repeats).

    Alternative splice isoforms for DNAJC5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DNAJC5 Gene

Proteomics data for DNAJC5 Gene at MOPED

Post-translational modifications for DNAJC5 Gene

  • Fatty acylated. Heavily palmitoylated in the cysteine string motif (By similarity).
  • Ubiquitination at Lys 58
  • Modification sites at PhosphoSitePlus

Other Protein References for DNAJC5 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Q9H3Z4

UniProtKB/Swiss-Prot:

DNJC5_HUMAN :
  • Contains 1 J domain.
Domain:
  • Contains 1 J domain.
genes like me logo Genes that share domains with DNAJC5: view

Function for DNAJC5 Gene

Molecular function for DNAJC5 Gene

UniProtKB/Swiss-Prot Function:
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:0005515 protein binding --
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

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DNAJC5

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DNAJC5 Gene COMPARTMENTS Subcellular localization image for DNAJC5 gene
Compartment Confidence
extracellular 5
lysosome 5
mitochondrion 5
plasma membrane 5
vacuole 5
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 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

PCR Array Products

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:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0016079 synaptic vesicle exocytosis TAS 10099709
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: NovoSeek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 0
cysteine Nutra 143

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
CSP-1
CSP-2
palmitate
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:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DNAJC5

Flow Cytometry Products

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 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, MOPED, and MaxQB for DNAJC5 Gene



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.
genes like me logo Genes that share expression patterns with DNAJC5: view

Protein tissue co-expression partners for DNAJC5 Gene

- Elite partner

Primer Products

In Situ Assay 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
cow
(Bos Taurus)
Mammalia DNAJC5 35
  • 90.57 (n)
  • 98.99 (a)
DNAJC5 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DNAJC5 35
  • 90.24 (n)
  • 94.44 (a)
DNAJC5 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dnajc5 35
  • 88.22 (n)
  • 99.49 (a)
Dnajc5 16
Dnajc5 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DNAJC5 35
  • 99.33 (n)
  • 100 (a)
DNAJC5 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dnajc5 35
  • 88.05 (n)
  • 99.49 (a)
oppossum
(Monodelphis domestica)
Mammalia DNAJC5 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DNAJC5 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves DNAJC5 35
  • 80.98 (n)
  • 95.45 (a)
DNAJC5 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DNAJC5 36
  • 95 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii dnajc5aa 35
  • 76.07 (n)
  • 86.15 (a)
dnajc5aa 36
  • 81 (a)
OneToMany
dnajc5ab 36
  • 77 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Csp 37
  • 77 (a)
Csp 35
  • 67.92 (n)
  • 74.53 (a)
Csp 36
  • 45 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007620 35
  • 62.75 (n)
  • 60.43 (a)
worm
(Caenorhabditis elegans)
Secernentea dnj-14 36
  • 39 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SIS1 36
  • 15 (a)
OneToMany
CWC23 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8441 36
  • 49 (a)
OneToMany
Species with no ortholog for DNAJC5:
  • 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 MAF
rs11224 -- 63,934,137(-) GAAAA(A/C)GGTTC utr-variant-3-prime, nc-transcript-variant
rs13048 -- 63,933,499(-) ATATC(C/T)CTCCT utr-variant-3-prime, nc-transcript-variant
rs749723 -- 63,934,480(-) CGGAC(A/G)GGCCT utr-variant-3-prime, nc-transcript-variant
rs749724 -- 63,934,446(-) CTGGC(A/G)GCCCC utr-variant-3-prime, nc-transcript-variant
rs817361 -- 63,926,906(+) cgtca(C/T)GTACA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv913190 CNV Loss 21882294
nsv428381 CNV Gain+Loss 18775914
nsv913250 CNV Loss 21882294
dgv4648n71 CNV Loss 21882294
nsv509784 CNV Insertion 20534489
nsv913269 CNV Loss 21882294
nsv469773 CNV Gain 16826518
nsv828805 CNV Loss 20364138
nsv913270 CNV Loss 21882294
dgv4652n71 CNV Loss 21882294
dgv4653n71 CNV Loss 21882294
dgv4654n71 CNV Loss 21882294
nsv9829 CNV Gain 18304495
dgv4655n71 CNV Loss 21882294
dgv4656n71 CNV Loss 21882294

Variation tolerance for DNAJC5 Gene

Residual Variation Intolerance Score: 27.07% 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

HapMap Linkage Disequilibrium report
DNAJC5
Human Gene Mutation Database (HGMD)
DNAJC5

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

Disorders for DNAJC5 Gene

MalaCards: The human disease database

(8) 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
  • autosomal dominant neuronal ceroid lipofuscinosis 4b
cln4 disease
  • parry disease
adult neuronal ceroid lipofuscinosis
  • adult ncl
visual epilepsy
  • epilepsy, visual
spinocerebellar ataxia 5
  • spinocerebellar ataxia type 5
- elite association

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: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. Cysteine string protein promotes proteasomal degradation of the cystic fibrosis transmembrane conductance regulator (CFTR) by increasing its interaction with the C terminus of Hsp70-interacting protein and promoting CFTR ubiquitylation. (PMID: 19098309) Schmidt B.Z. … Frizzell R.A. (J. Biol. Chem. 2009) 23 67
  2. Exploration of Csp genes from temperate and glacier soils of the Indian Himalayas and in silico analysis of encoding proteins. (PMID: 19159976) Latha P.K. … Goel R. (Curr. Microbiol. 2009) 23 67
  3. Unfolded protein and peptide dynamics investigated with single-molecule FRET and correlation spectroscopy from picoseconds to seconds. (PMID: 18410159) Nettels D. … Schuler B. (J Phys Chem B 2008) 23 67
  4. Palmitoylation and membrane interactions of the neuroprotective chaperone cysteine-string protein. (PMID: 18596047) Greaves J. … Chamberlain L.H. (J. Biol. Chem. 2008) 23 67
  5. Plasmodium knowlesi in humans, macaques and mosquitoes in peninsular Malaysia. (PMID: 18710577) Vythilingam I. … Lokmanhakim S. (Parasit Vectors 2008) 23 67

Products for DNAJC5 Gene

Sources for DNAJC5 Gene

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