• Gene id: 84277

Gene Summary

• Gene Symbol: DNAJC30   Gene   UCSC   Ensembl
• Aliases: WBSCR18
• Gene name: DnaJ heat shock protein family (Hsp40) member C30
• Alternate names: dnaJ homolog subfamily C member 30, mitochondrial, DnaJ (Hsp40) homolog, subfamily C, member 30, Williams Beuren syndrome chromosome region 18, dnaJ homolog subfamily C member 30, williams-Beuren syndrome chromosomal region 18 protein,
• Gene location: 7q11.23 (73683452: 73680917)     Exons: 1     NC_000007.14
• Gene summary(Entrez): This intronless gene encodes a member of the DNAJ molecular chaperone homology domain-containing protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. [provid
• OMIM: 618202

Protein Summary

• Protein general information: Q96LL9  
  • Name: DnaJ homolog subfamily C member 30, mitochondrial (Williams Beuren syndrome chromosomal region 18 protein)
  • Length: 226  
  • Mass: 25961
  • Tissue specificity: Expressed in brain, heart, kidney, liver, lung, spleen, stomach and testis (PubMed
• Sequence:

  MAAMRWRWWQRLLPWRLLQARGFPQNSAPSLGLGARTYSQGDCSYSRTALYDLLGVPSTATQAQIKAAYYRQCFL
  YHPDRNSGSAEAAERFTRISQAYVVLGSATLRRKYDRGLLSDEDLRGPGVRPSRTPAPDPGSPRTPPPTSRTHDG
  SRASPGANRTMFNFDAFYQAHYGEQLERERRLRARREALRKRQEYRSMKGLRWEDTRDTAAIFLIFSIFIIIGFY
  I

• Structural information:
  • Protein Domains: (49..11-)
    (/note="J-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00286"-)
  • Interpro: IPR001623  IPR036869  
  • Prosite: PS50076
  • CDD: cd06257
  • PDB: 2YUA
  • PDBsum: 2YUA
  • STRING: ENSP00000378605
• Other Databases: GeneCards:  DNAJC30  Malacards:  DNAJC30

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:1905706	regulation of mitochondrial ATP synthesis coupled proton transport	ISS	biological process
GO:0007420	brain development	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006754	ATP biosynthetic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
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: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: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:1905706	regulation of mitochondrial ATP synthesis coupled proton transport	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component

Diseases

Associated diseases	References
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	PMID:12073013
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)