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MT001403

Record overview

MITO IDMT001403
Gene ID84277
SpeciesHomo sapiens (Human)
Gene NameDnaJ (Hsp40) homolog, subfamily C, member 30
Gene SymbolDNAJC30
SynonymsWBSCR18;
Alternate namesdnaJ homolog subfamily C member 30; Williams Beuren syndrome chromosome region 18; williams-Beuren syndrome chromosomal region 18 protein;
Chromosome7
Map Location7q11.23
SummaryThis 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. [provided by RefSeq, Jul 2008]
OrthologsView orthologs and multiple alignments for DNAJC30

Proteins

dnaJ homolog subfamily C member 30 precursor
Refseq ID:NP_115693
Protein GI:22538497
UniProt ID:Q96LL9
mRNA ID:NM_032317
Length:226
RefSeq Status:
MAAMRWRWWQRLLPWRLLQARGFPQNSAPSLGLGARTYSQGDCSYSRTALYDLLGVPSTATQAQIKAAYYRQCFLYHPDRNSGSAEAAERFTRISQAYVV
LGSATLRRKYDRGLLSDEDLRGPGVRPSRTPAPDPGSPRTPPPTSRTHDGSRASPGANRTMFNFDAFYQAHYGEQLERERRLRARREALRKRQEYRSMKG
LRWEDTRDTAAIFLIFSIFIIIGFYI
 
N
sig_peptide: 1..22
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2883
peptide sequence: 
MAAMRWRWWQRLLPWRLLQARG