Dnajc5 DnaJ heat shock protein family (Hsp40) member C5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dnajc5provided by MGI
Official Full Name: DnaJ heat shock protein family (Hsp40) member C5provided by MGI
Primary source: MGI:MGI:892995
See related: Ensembl:ENSMUSG00000000826 AllianceGenome:MGI:892995
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: Csp; 2610314I24Rik
Summary: Predicted to enable ATP-dependent protein binding activity. Involved in chaperone-mediated protein folding and regulation of synaptic vesicle cycle. Acts upstream of or within negative regulation of neuron apoptotic process. Located in neuromuscular junction and synaptic vesicle. Is active in presynapse. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 4B. Orthologous to human DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 42.4), cerebellum adult (RPKM 41.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 H4; 2 103.63 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (181162141..181194679)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (181518858..181552886)

Chromosome 2 - NC_000068.8 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?

Point mutations in cysteine string protein-alpha (CSP alpha) cause dominantly inherited adult-onset neuronal ceroid lipofuscinosis (ANCL). Normally palmitoylated cysteine string region of cysteine string protein alpha loses palmitoylation in ANCL mutants.
Title: Aggregation of mutant cysteine string protein-α via Fe-S cluster binding is mitigated by iron chelators.
Studied role of the synaptic co-chaperone cysteine string protein-alpha in postnatal quiescence of mouse hippocampal radial glia-like (RGL) neural stem cells through mechanistic target of rapamycin kinase (mTOR) activation.
Title: Loss of postnatal quiescence of neural stem cells through mTOR activation upon genetic removal of cysteine string protein-α.
Results indicate that by assisting local lysosome/proteasome processes, CSPalpha-mediated removal of toxic proteins via extracellular vesicles plays a central role in synaptic proteostasis.
Title: Neurons Export Extracellular Vesicles Enriched in Cysteine String Protein and Misfolded Protein Cargo.
These data show that neurodegenerative processes associated with lysosomal dysfunction may be presynaptically initiated by a concomitant reduction in alpha-synuclein and CSPalpha levels at nerve terminals.
Title: Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases.
CSPalpha has a role in regulating synaptic excitability and neurotransmission by limiting expression of BK channels.
Title: Cysteine string protein limits expression of the large conductance, calcium-activated K⁺ (BK) channel.
The mRNA and protein expression of CSP1 was elevated in 3T3-L1 adipocytes in insulin resistant states caused by high levels of palmitate and chronic insulin exposure.
Title: Cysteine string protein 1 (CSP1) modulates insulin sensitivity by attenuating glucose transporter 4 (GLUT4) vesicle docking with the plasma membrane.
gamma-Synuclein binds synaptic vesicles but is unable to rescue the phenotype of CSPalpha-deficient mice.
Title: Contrasting effects of α-synuclein and γ-synuclein on the phenotype of cysteine string protein α (CSPα) null mutant mice suggest distinct function of these proteins in neuronal synapses.
Study shows that cysteine string protein-alpha is required to maintain the size of the releasable pool of synaptic vesicles in motorneurons, presumably by conveying stability to SNAP-25.
Title: Motorneurons require cysteine string protein-α to maintain the readily releasable vesicular pool and synaptic vesicle recycling.
Using hippocampal cultures, study shows that CSPalpha regulates the stability of client proteins and synaptic vesicle number. Analysis of CSPalpha-dynamin 1 interactions reveals unexpectedly that CSPalpha regulates the polymerization of dynamin 1.
Title: Identification of CSPα clients reveals a role in dynamin 1 regulation.
findings suggest that the neurodegeneration in CSPalpha KO mice is primarily produced by defective SNAP-25 function, which causes neurodegeneration by impairing SNARE-complex assembly
Title: CSPα knockout causes neurodegeneration by impairing SNAP-25 function.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Variation

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Alleles

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

Targeted (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH136216 (e-PCR)
- UniSTS:210211

AW742687 (e-PCR)
- UniSTS:207454

AU041474 (e-PCR)
- UniSTS:159088

NoName (e-PCR)
- UniSTS:234632

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chaperone-mediated protein folding	IBA Inferred from Biological aspect of Ancestor more info
involved_in chaperone-mediated protein folding	IDA Inferred from Direct Assay more info	PubMed
involved_in chaperone-mediated protein folding	IEP Inferred from Expression Pattern more info	PubMed
involved_in chaperone-mediated protein folding	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of neuron apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of neuron apoptotic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of synaptic vesicle cycle	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of synaptic vesicle cycle	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle cycle	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of synaptic vesicle cycle	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in clathrin-sculpted glutamate transport vesicle membrane	TAS Traceable Author Statement more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle	IEA Inferred from Electronic Annotation more info
is_active_in intracellular membrane-bounded organelle	IBA Inferred from Biological aspect of Ancestor more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IEP Inferred from Expression Pattern more info	PubMed
is_active_in neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in presynapse	IBA Inferred from Biological aspect of Ancestor more info
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in presynapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in synaptic vesicle	IDA Inferred from Direct Assay more info	PubMed
is_active_in synaptic vesicle membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dnaJ homolog subfamily C member 5

Names: DnaJ (Hsp40) homolog, subfamily C, member 5; cysteine string protein

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_001271584.1 → NP_001258513.1 dnaJ homolog subfamily C member 5

See identical proteins and their annotated locations for NP_001258513.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' UTR and contains another compared to variant 1. Variants 1, 2, and 3 all encode the same protein.

Source sequence(s)

AK029006, AK035288, BY101584, BY333630

Consensus CDS

CCDS17215.1

UniProtKB/Swiss-Prot

P54101, P60904

UniProtKB/TrEMBL

Q921J3

Related

ENSMUSP00000104425.2, ENSMUST00000108797.8

Conserved Domains (1) summary

COG0484
Location:15 → 84

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_001271585.1 → NP_001258514.1 dnaJ homolog subfamily C member 5

See identical proteins and their annotated locations for NP_001258514.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, and 3 all encode the same protein.

Source sequence(s)

AK029006, AK035288, BY333630, CB249513

Consensus CDS

CCDS17215.1

UniProtKB/Swiss-Prot

P54101, P60904

UniProtKB/TrEMBL

Q921J3

Conserved Domains (1) summary

COG0484
Location:15 → 84

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
NM_016775.3 → NP_058055.1 dnaJ homolog subfamily C member 5

See identical proteins and their annotated locations for NP_058055.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same protein.

Source sequence(s)

AK029006, AK035288, BY333630

Consensus CDS

CCDS17215.1

UniProtKB/Swiss-Prot

P54101, P60904

UniProtKB/TrEMBL

Q921J3

Related

ENSMUSP00000072175.6, ENSMUST00000072334.12

Conserved Domains (1) summary

COG0484
Location:15 → 84

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

RNA

NR_073369.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks an exon in the 5' end and contains an alternate exon in the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK029006, AK035288, BY333630, CN459638

Related

ENSMUST00000116365.9

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_000068.8 Reference GRCm39 C57BL/6J

Range

181162141..181194679

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011239923.4 → XP_011238225.1 dnaJ homolog subfamily C member 5 isoform X1

See identical proteins and their annotated locations for XP_011238225.1

UniProtKB/Swiss-Prot

P54101, P60904

UniProtKB/TrEMBL

Q921J3

Related

ENSMUSP00000104424.2, ENSMUST00000108796.2

Conserved Domains (1) summary

COG0484
Location:15 → 84

DnaJ; DnaJ-class molecular chaperone with C-terminal Zn finger domain [Posttranslational modification, protein turnover, chaperones]
XM_036157985.1 → XP_036013878.1 dnaJ homolog subfamily C member 5 isoform X1

UniProtKB/Swiss-Prot

P54101, P60904

UniProtKB/TrEMBL

Q921J3

Conserved Domains (1) summary

COG0484
Location:15 → 84

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