• Gene id: 9829

Gene Summary

• Gene Symbol: DNAJC6   Gene   UCSC   Ensembl
• Aliases: DJC6, PARK19
• Gene name: DnaJ heat shock protein family (Hsp40) member C6
• Alternate names: putative tyrosine-protein phosphatase auxilin, DnaJ (Hsp40) homolog, subfamily B, member 6, DnaJ (Hsp40) homolog, subfamily C, member 6, auxilin,
• Gene location: 1p31.3 (65264693: 65415870)     Exons: 21     NC_000001.11
• Gene summary(Entrez): DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N
• OMIM: 138190

SNPs

rs397515392

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.180661860C>G
NC_000003.11   g.180379648C>G
NG_029581.1   g.22636G>C|SEQ=[C/G]|GENE=CCDC39

Protein Summary

• Protein general information: O75061  
  • Name: Putative tyrosine protein phosphatase auxilin (EC 3.1.3.48) (DnaJ homolog subfamily C member 6)
  • Length: 913  
  • Mass: 99997
  • Tissue specificity: Expressed in various brain regions, including cerebellum, corpus callosum, cortex, striatum, brainstem, pons, putamen, spinal cord and substantia nigra. Very low expression in non-neural tissues such as leukocytes, liver, adipose tissu
• Sequence:

  MKDSENKGASSPDMEPSYGGGLFDMVKGGAGRLFSNLKDNLKDTLKDTSSRVIQSVTSYTKGDLDFTYVTSRIIV
  MSFPLDNVDIGFRNQVDDIRSFLDSRHLDHYTVYNLSPKSYRTAKFHSRVSECSWPIRQAPSLHNLFAVCRNMYN
  WLLQNPKNVCVVHCLDGRAASSILVGAMFIFCNLYSTPGPAIRLLYAKRPGIGLSPSHRRYLGYMCDLLADKPYR
  PHFKPLTIKSITVSPIPFFNKQRNGCRPYCDVLIGETKIYSTCTDFERMKEYRVQDGKIFIPLNITVQGDVVVSM
  YHLRSTIGSRLQAKVTNTQIFQLQFHTGFIPLDTTVLKFTKPELDACDVPEKYPQLFQVTLDVELQPHDKVIDLT
  PPWEHYCTKDVNPSILFSSHQEHQDTLALGGQAPIDIPPDNPRHYGQSGFFASLCWQDQKSEKSFCEEDHAALVN
  QESEQSDDELLTLSSPHGNANGDKPHGVKKPSKKQQEPAAPPPPEDVDLLGLEGSAMSNSFSPPAAPPTNSELLS
  DLFGGGGAAGPTQAGQSGVEDVFHPSGPASTQSTPRRSATSTSASPTLRVGEGATFDPFGAPSKPSGQDLLGSFL
  NTSSASSDPFLQPTRSPSPTVHASSTPAVNIQPDVSGGWDWHAKPGGFGMGSKSAATSPTGSSHGTPTHQSKPQT
  LDPFADLGTLGSSSFASKPTTPTGLGGGFPPLSSPQKASPQPMGGGWQQGGAYNWQQPQPKPQPSMPHSSPQNRP
  NYNVSFSAMPGGQNERGKGSSNLEGKQKAADFEDLLSGQGFNAHKDKKGPRTIAEMRKEEMAKEMDPEKLKILEW
  IEGKERNIRALLSTMHTVLWAGETKWKPVGMADLVTPEQVKKVYRKAVLVVHPDKATGQPYEQYAKMIFMELNDA
  WSEFENQGQKPLY

• Structural information:
  • Protein Domains: (55..22-)
    (/note="Phosphatase-tensin-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00590-)
    (228..36-)
    (/note="C2-tensin-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00589-)
    (849..91-)
    (/note="J-)
    (/evidence="ECO:0000255|PROSITE--)
  • Interpro: IPR001623  IPR036869  IPR029021  IPR014020  IPR029023  
  • Prosite: PS51182 PS50076 PS51181
  • CDD: cd06257
  • STRING: ENSP00000360108
• Other Databases: GeneCards:  DNAJC6  Malacards:  DNAJC6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016191	synaptic vesicle uncoating	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0014069	postsynaptic density	IBA	cellular component
GO:0030276	clathrin binding	IBA	molecular function
GO:0031982	vesicle	IBA	cellular component
GO:0072318	clathrin coat disassembly	IBA	biological process
GO:0072583	clathrin-dependent endocytosis	IBA	biological process
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:2000369	regulation of clathrin-dependent endocytosis	IEA	biological process
GO:0016191	synaptic vesicle uncoating	IEA	biological process
GO:0072318	clathrin coat disassembly	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0016191	synaptic vesicle uncoating	ISS	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0016191	synaptic vesicle uncoating	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006898	receptor-mediated endocytosis	IBA	biological process
GO:0014069	postsynaptic density	IBA	cellular component
GO:0030276	clathrin binding	IBA	molecular function
GO:0031982	vesicle	IBA	cellular component
GO:0072318	clathrin coat disassembly	IBA	biological process
GO:0072583	clathrin-dependent endocytosis	IBA	biological process
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:2000369	regulation of clathrin-dependent endocytosis	IEA	biological process
GO:0016191	synaptic vesicle uncoating	IEA	biological process
GO:0072318	clathrin coat disassembly	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0016191	synaptic vesicle uncoating	ISS	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0098793	presynapse	IEA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0006470	protein dephosphorylation	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Parkinson's disease	PMID:25639775
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881