• Gene id: 64215

Gene Summary

• Gene Symbol: DNAJC1   Gene   UCSC   Ensembl
• Aliases: DNAJL1, ERdj1, HTJ1, MTJ1
• Gene name: DnaJ heat shock protein family (Hsp40) member C1
• Alternate names: dnaJ homolog subfamily C member 1, DnaJ (Hsp40) homolog, subfamily C, member 1, DnaJ-like protein, dnaJ protein homolog MTJ1,
• Gene location: 10p12.31 (42980527: 42950525)     Exons: 18     NC_000017.11
• Gene summary(Entrez): The membrane protein encoded by this gene is a DNAJ-like heat shock protein that binds the molecular chaperone BiP. In addition, the encoded protein contains two SANT domains that have been shown to bind serpin alpha1-antichymotrypsin and inter-alpha tryp
• OMIM: 611207

Protein Summary

• Protein general information: Q96KC8  
  • Name: DnaJ homolog subfamily C member 1 (DnaJ protein homolog MTJ1)
  • Length: 554  
  • Mass: 63883
• Sequence:

  MTAPCSQPAQLPGRRQLGLVPFPPPPPRTPLLWLLLLLLAAVAPARGWESGDLELFDLVEEVQLNFYQFLGVQQD
  ASSADIRKAYRKLSLTLHPDKNKDENAETQFRQLVAIYEVLKDDERRQRYDDILINGLPDWRQPVFYYRRVRKMS
  NAELALLLFIILTVGHYAVVWSIYLEKQLDELLSRKKREKKKKTGSKSVDVSKLGASEKNERLLMKPQWHDLLPC
  KLGIWFCLTLKALPHLIQDAGQFYAKYKETRLKEKEDALTRTELETLQKQKKVKKPKPEFPVYTPLETTYIQSYD
  HGTSIEEIEEQMDDWLENRNRTQKKQAPEWTEEDLSQLTRSMVKFPGGTPGRWEKIAHELGRSVTDVTTKAKQLK
  DSVTCSPGMVRLSELKSTVQNSRPIKTATTLPDDMITQREDAEGVAAEEEQEGDSGEQETGATDARPRRRKPARL
  LEATAKPEPEEKSRAKRQKDFDIAEQNESSDEESLRKERARSAEEPWTQNQQKLLELALQQYPRGSSDRWDKIAR
  CVPSKSKEDCIARYKLLVELVQKKKQAKS

• Structural information:
  • Protein Domains: (65..12-)
    (/note="J-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00286-)
    (325..37-)
    (/note="SANT-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00624-)
    (492..54-)
    (/note="SANT-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00624"-)
  • Interpro: IPR001623  IPR018253  IPR009057  IPR036869  IPR001005   IPR017884  
  • Prosite: PS00636 PS50076 PS51293
  • CDD: cd06257 cd00167
  • PDB: 2CQQ 2CQR
  • PDBsum: 2CQQ 2CQR
  • STRING: ENSP00000366179
• Other Databases: GeneCards:  DNAJC1  Malacards:  DNAJC1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051087	chaperone binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006457	protein folding	IEA	biological process
GO:0006417	regulation of translation	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0031965	nuclear membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0032781	positive regulation of ATPase activity	IEA	biological process
GO:0050708	regulation of protein secretion	IDA	biological process
GO:0045861	negative regulation of proteolysis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	HDA	cellular component
GO:0001671	ATPase activator activity	TAS	molecular function
GO:0005783	endoplasmic reticulum	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881