• Gene id: 80331

Gene Summary

• Gene Symbol: DNAJC5   Gene   UCSC   Ensembl
• Aliases: CLN4, CLN4B, CSP, DNAJC5A, NCL, mir-941-2, mir-941-3, mir-941-4, mir-941-5
• Gene name: DnaJ heat shock protein family (Hsp40) member C5
• Alternate names: dnaJ homolog subfamily C member 5, DnaJ (Hsp40) homolog, subfamily C, member 5, ceroid-lipofuscinosis neuronal protein 4, cysteine string protein alpha,
• Gene location: 20q13.33 (63895125: 63936025)     Exons: 8     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 611203

Protein Summary

• Protein general information: Q9H3Z4  
  • Name: DnaJ homolog subfamily C member 5 (Ceroid lipofuscinosis neuronal protein 4) (Cysteine string protein) (CSP)
  • Length: 198  
  • Mass: 22149
  • Tissue specificity: Expressed in pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart. {ECO
• Sequence:

  MADQRQRSLSTSGESLYHVLGLDKNATSDDIKKSYRKLALKYHPDKNPDNPEAADKFKEINNAHAILTDATKRNI
  YDKYGSLGLYVAEQFGEENVNTYFVLSSWWAKALFVFCGLLTCCYCCCCLCCCFNCCCGKCKPKAPEGEETEFYV
  SPEDLEAQLQSDEREATDTPIVIQPASATETTQLTADSHPSYHTDGFN

• Structural information:
  • Protein Domains: (13..8-)
    (/note="J-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00286"-)
  • Interpro: IPR001623  IPR018253  IPR036869  
  • Prosite: PS00636 PS50076
  • CDD: cd06257
  • PDB: 2N04 2N05
  • PDBsum: 2N04 2N05
  • STRING: ENSP00000354111
• Other Databases: GeneCards:  DNAJC5  Malacards:  DNAJC5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045055	regulated exocytosis	TAS	biological process
GO:0016079	synaptic vesicle exocytosis	TAS	biological process
GO:0006887	exocytosis	NAS	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0031225	anchored component of membrane	ISS	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0035579	specific granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS	cellular component
GO:0061202	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098693	regulation of synaptic vesicle cycle	IEA	biological process
GO:0061077	chaperone-mediated protein folding	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0098993	anchored component of synaptic vesicle membrane	IEA	cellular component
GO:0043008	ATP-dependent protein binding	IEA	molecular function
GO:0098793	presynapse	IEA	cellular component
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0042584	chromaffin granule membrane	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005765	lysosomal membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Neuronal ceroid lipofuscinosis	KEGG:H00149
Kufs disease	KEGG:H02276
Neuronal ceroid lipofuscinosis	KEGG:H00149
Kufs disease	KEGG:H02276
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq