Dnajb4 DnaJ heat shock protein family (Hsp40) member B4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dnajb4provided by MGI
Official Full Name: DnaJ heat shock protein family (Hsp40) member B4provided by MGI
Primary source: MGI:MGI:1914285
See related: Ensembl:ENSMUSG00000028035 AllianceGenome:MGI:1914285
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: 1700029A20Rik; 2010306G19Rik; 5730460G06Rik
Summary: Predicted to enable ATPase activator activity; protein-folding chaperone binding activity; and unfolded protein binding activity. Predicted to be involved in chaperone cofactor-dependent protein refolding and negative regulation of transcription by RNA polymerase II. Predicted to be located in Z disc; nucleoplasm; and plasma membrane. Predicted to be active in cytosol. Used to study distal myopathy. Human ortholog(s) of this gene implicated in congenital myopathy 21. Orthologous to human DNAJB4 (DnaJ heat shock protein family (Hsp40) member B4). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in testis adult (RPKM 16.1), bladder adult (RPKM 10.9) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 H3; 3 77.03 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (151887217..151915720, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (152181580..152210432, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
Title: Distinctive chaperonopathy in skeletal muscle associated with the dominant variant in DNAJB4.
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
Title: Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (6) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATPase activator activity	ISO Inferred from Sequence Orthology more info
enables ATPase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-folding chaperone binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein-folding chaperone binding	IEA Inferred from Electronic Annotation more info
enables protein-folding chaperone binding	ISO Inferred from Sequence Orthology more info
enables unfolded protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables unfolded protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chaperone cofactor-dependent protein refolding	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein folding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Z disc	ISO Inferred from Sequence Orthology more info
located_in Z disc	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dnaJ homolog subfamily B member 4

Names: DnaJ (Hsp40) homolog, subfamily B, member 4

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_001356363.2 → NP_001343292.1 dnaJ homolog subfamily B member 4 isoform 1

Status: VALIDATED

Source sequence(s)

AC123075

Consensus CDS

CCDS17915.1

UniProtKB/Swiss-Prot

Q3TS92, Q9D832, Q9D9U2

Conserved Domains (1) summary

COG0484
Location:1 → 332

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_001356364.2 → NP_001343293.1 dnaJ homolog subfamily B member 4 isoform 2

Status: VALIDATED

Source sequence(s)

AC123075

Conserved Domains (1) summary

cd10747
Location:43 → 205

DnaJ_C; C-terminal substrate binding domain of DnaJ and HSP40
NM_025926.6 → NP_080202.1 dnaJ homolog subfamily B member 4 isoform 1

See identical proteins and their annotated locations for NP_080202.1

Status: VALIDATED

Source sequence(s)

AC123075

Consensus CDS

CCDS17915.1

UniProtKB/Swiss-Prot

Q3TS92, Q9D832, Q9D9U2

Related

ENSMUSP00000053916.7, ENSMUST00000050073.13

Conserved Domains (1) summary

COG0484
Location:1 → 332

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_027287.6 → NP_081563.2 dnaJ homolog subfamily B member 4 isoform 1

See identical proteins and their annotated locations for NP_081563.2

Status: VALIDATED

Source sequence(s)

AC123075

Consensus CDS

CCDS17915.1

UniProtKB/Swiss-Prot

Q3TS92, Q9D832, Q9D9U2

Related

ENSMUSP00000114356.2, ENSMUST00000144950.8

Conserved Domains (1) summary

COG0484
Location:1 → 332

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

151887217..151915720 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036163237.1 → XP_036019130.1 dnaJ homolog subfamily B member 4 isoform X1

UniProtKB/Swiss-Prot

Q3TS92, Q9D832, Q9D9U2

Conserved Domains (1) summary

COG0484
Location:1 → 332

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