Homo sapiens Protein: DNAJC30
Summary
InnateDB Protein IDBP-240086.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DNAJC30
Protein Name DnaJ (Hsp40) homolog, subfamily C, member 30
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000378605
InnateDB Gene IDBG-20247 (DNAJC30)
Protein Structure
UniProt Annotation
Function
Subcellular Localization
Disease Associations Note=DNAJC30 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Tissue Specificity Expressed in brain, heart, kidney, liver, lung, spleen, stomach and testis. {ECO:0000269PubMed:12073013}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 2 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
Cellular Component
GO:0005739 mitochondrion
Protein Structure and Domains
PDB ID
InterPro IPR001623 DnaJ domain
PFAM PF00226
PRINTS PR00625
PIRSF
SMART SM00271
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q96LL9
PhosphoSite PhosphoSite-Q96LL9
TrEMBL
UniProt Splice Variant
Entrez Gene 84277
UniGene Hs.647046
RefSeq NP_115693
HUGO HGNC:16410
OMIM
CCDS CCDS5556
HPRD 10303
IMGT
EMBL AC073846 AF412025 AK058113 BC005056
GenPept AAH05056 AAM62307 AAS07471 BAB71671