ZDHHC3 (Zinc Finger DHHC-Type Palmitoyltransferase 3)
A key enzyme in protein palmitoylation, involved in neuronal signaling and cancer biology.
Gene Information Card
| Symbol | ZDHHC3 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p24.1 |
| NCBI Gene ID | 51304 ncbi.nlm.nih.gov/gene/51304 |
| Ensembl ID | ENSG00000106868 |
| UniProt ID | Q9H4B4 |
| OMIM ID | 617669 |
| HGNC ID | 18421 |
| Aliases | DHHC3, ZNF373, FLJ20291 |
Description
ZDHHC3 encodes a member of the DHHC protein family, which catalyzes the addition of palmitate to cysteine residues of target proteins (palmitoylation). This post-translational modification regulates protein membrane tethering, trafficking, and signaling. ZDHHC3 is widely expressed and plays roles in neuronal function, synaptic plasticity, and cancer cell growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of ZDHHC3 promotes palmitoylation of oncogenic proteins (e.g., EGFR, Src), enhancing signaling and tumor growth. | COSMIC, PubMed |
| Lung cancer | Amplification and increased expression of ZDHHC3 correlate with poor prognosis; palmitoylation of PD-L1 may affect immune evasion. | COSMIC, PubMed |
| Neurodevelopmental disorders | Rare variants in ZDHHC3 may disrupt palmitoylation of synaptic proteins, affecting neuronal connectivity. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 8.7 | Low |
| Breast | 6.3 | Low |
| Liver | 4.1 | Low |
| Testis | 12.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| MCF7 | 9.2 | Moderate expression |
| A549 | 7.8 | Moderate expression |
| HepG2 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.511G>A (p.Gly171Arg) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.742C>T (p.Arg248Trp) | Missense | <0.01% | Potential loss of palmitoyltransferase activity |
| Amplification | Copy number gain | ~5% in breast cancer | Associated with increased mRNA expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the DHHC domain (e.g., p.Arg248Trp) may impair catalytic activity, reducing palmitoylation of substrates.
Gain of Function (GOF)
Gene amplification or overexpression in cancers leads to increased palmitoylation of oncoproteins, enhancing signaling.
Dominant Negative (DN)
Not well characterized; dominant-negative effects have not been reported for ZDHHC3.
View complete mutation data：
Gene Ontology (GO)
| • Protein palmitoyltransferase activity | • Zinc ion binding |
| • Membrane | • Golgi apparatus |
| • Protein targeting to membrane |
Pathways
• Palmitoylation pathway
• Ras signaling
• EGFR signaling
• Synaptic vesicle cycle
Protein Summary
ZDHHC3 is a 299-amino acid transmembrane protein localized to the Golgi apparatus and plasma membrane. It contains a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for palmitoyltransferase activity. The enzyme modifies diverse substrates including ion channels, receptors, and signaling molecules, influencing cell proliferation, migration, and neurotransmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC3 Knockout HEK293 Cell Line | EDJ-KQ11029 | Human | 51304 | Details Get a Quote |
| ZDHHC3 Knockout A-549 Cell Line | EDJ-KQ38923 | Human | 51304 | Details Get a Quote |
| ZDHHC3 Knockout HCT 116 Cell Line | EDJ-KQ38924 | Human | 51304 | Details Get a Quote |
| ZDHHC3 Knockout HeLa Cell Line | EDJ-KQ38925 | Human | 51304 | Details Get a Quote |
