Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dnajc30provided by MGI
Official Full Name: DnaJ heat shock protein family (Hsp40) member C30provided by MGI
Primary source: MGI:MGI:1913364
See related: Ensembl:ENSMUSG00000061118 AllianceGenome:MGI:1913364
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Wbscr18; 1300007M11Rik
Summary: Involved in brain development and regulation of mitochondrial ATP synthesis coupled proton transport. Located in mitochondrion. Is expressed in several structures, including brain; genitourinary system; gut gland; respiratory system; and skeletal muscle tissue. Human ortholog(s) of this gene implicated in Williams-Beuren syndrome. Orthologous to human DNAJC30 (DnaJ heat shock protein family (Hsp40) member C30). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human all
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Genomic context

Location:: 5 G2; 5 74.97 cM

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (135093060..135094219)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (135064206..135065365)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNAJC30 is an auxiliary component of ATP-synthase machinery. Removal of Dnajc30 in mice resulted in phenotype reminiscent of Williams syndrome.
Title: The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2)

General gene information

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Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
involved_in ATP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitochondrial ATP synthesis coupled proton transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed

General protein information

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Preferred Names: dnaJ homolog subfamily C member 30, mitochondrial

Names: DnaJ (Hsp40) homolog, subfamily C, member 30; Williams-Beuren syndrome chromosome region 18 homolog; Williams-Beuren syndrome critical region 18; williams-Beuren syndrome chromosomal region 18 protein homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_025362.3 → NP_079638.2 dnaJ homolog subfamily C member 30, mitochondrial precursor

See identical proteins and their annotated locations for NP_079638.2

Status: VALIDATED

Source sequence(s)

AF412026

Consensus CDS

CCDS39315.1

UniProtKB/Swiss-Prot

P59041

UniProtKB/TrEMBL

Q9DBI3

Related

ENSMUSP00000094318.4, ENSMUST00000071263.7

Conserved Domains (2) summary

COG0484
Location:44 → 105

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]

pfam00226
Location:43 → 104

DnaJ; DnaJ domain