DNAJC24: DnaJ Heat Shock Protein Family (Hsp40) Member C24
A co-chaperone involved in protein folding, iron-sulfur cluster biogenesis, and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | DNAJC24 |
|---|---|
| Full Name | DnaJ Heat Shock Protein Family (Hsp40) Member C24 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p13 |
| NCBI Gene ID | 120526 ncbi.nlm.nih.gov/gene/120526 |
| Ensembl ID | ENSG00000166123 |
| UniProt ID | Q6P5F9 |
| OMIM ID | 615291 |
| HGNC ID | 28285 |
| Aliases | CSL, DPH4, JJJ3, ZCSL3 |
Description
DNAJC24 (DnaJ Heat Shock Protein Family (Hsp40) Member C24) encodes a co-chaperone protein belonging to the DnaJ/Hsp40 family. It contains a J-domain that stimulates the ATPase activity of Hsp70 chaperones, facilitating protein folding, assembly, and degradation. DNAJC24 is also involved in iron-sulfur (Fe-S) cluster biogenesis and diphthamide biosynthesis. The gene is located on chromosome 11p13 and is expressed in multiple tissues. Alterations in DNAJC24 have been implicated in cancer and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression may promote cell proliferation and migration; potential oncogenic role through Hsp70 co-chaperone activity | COSMIC; literature (PMID: 31586073) |
| Neurological disorders (e.g., intellectual disability) | Mutations in DNAJC24 may impair Fe-S cluster biogenesis, affecting neuronal development | ClinVar; OMIM #615291 |
| Diphthamide deficiency | DNAJC24 (DPH4) is required for diphthamide modification on translation elongation factor 2; loss leads to toxin resistance | UniProt; literature (PMID: 24872417) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Medium |
| Heart | 6.8 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.1 | Cervical cancer cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
| K562 | 7.8 | Leukemia cell line |
| A549 | 6.2 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; likely loss of function |
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Reported in ClinVar as uncertain significance; may affect J-domain |
| c.421G>A (p.Glu141Lys) | Missense | <0.01% | Observed in COSMIC; possible gain-of-function in cancer |
Mutation functional classification
Loss of Function (LOF)
Mutations affecting the J-domain or start codon likely impair Hsp70 co-chaperone activity and Fe-S cluster biogenesis.
Gain of Function (GOF)
Overexpression or specific missense variants (e.g., p.Glu141Lys) may enhance oncogenic signaling.
Dominant Negative (DN)
Not well characterized; possible if mutant protein interferes with wild-type function in dimerization.
View complete mutation data：
Gene Ontology (GO)
| • protein folding (GO:0006457) | • ATP binding (GO:0005524) |
| • heat shock protein binding (GO:0031072) | • iron-sulfur cluster assembly (GO:0016226) |
| • peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183) | • cytoplasm (GO:0005737) |
Pathways
• Hsp70 chaperone cycle
• Iron-sulfur cluster biogenesis
• Diphthamide biosynthesis
Protein Summary
DNAJC24 encodes a 222-amino acid protein (UniProt Q6P5F9) with a conserved J-domain at the N-terminus. It functions as a co-chaperone for Hsp70, stimulating ATP hydrolysis to assist in protein folding. Additionally, it participates in iron-sulfur cluster assembly and diphthamide modification of translation elongation factor 2. The protein is localized to the cytoplasm and is expressed in various tissues, with highest levels in testis and brain. Mutations and altered expression are linked to cancer and neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAJC24 Knockout HEK293 Cell Line | EDJ-KQ7668 | Human | 120526 | Details Get a Quote |
| DNAJC24 Knockout A-549 Cell Line | EDJ-KQ33025 | Human | 120526 | Details Get a Quote |
| DNAJC24 Knockout HCT 116 Cell Line | EDJ-KQ33026 | Human | 120526 | Details Get a Quote |
| DNAJC24 Knockout HeLa Cell Line | EDJ-KQ33027 | Human | 120526 | Details Get a Quote |
