ZDHHC5 (Zinc Finger DHHC-Type Palmitoyltransferase 5)
A key regulator of protein palmitoylation involved in neuronal signaling, cardiac function, and cancer biology.
Gene Information Card
| Symbol | ZDHHC5 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 25921 ncbi.nlm.nih.gov/gene/25921 |
| Ensembl ID | ENSG00000137710 |
| UniProt ID | Q9C0B5 |
| OMIM ID | 613105 |
| HGNC ID | 20749 |
| Aliases | DHHC5, FLJ12606, KIAA1748 |
Description
ZDHHC5 encodes a member of the DHHC (Asp-His-His-Cys) family of palmitoyltransferases, which catalyze the addition of palmitate to cysteine residues of target proteins. This post-translational modification regulates protein membrane association, trafficking, and function. ZDHHC5 is widely expressed, with high levels in the brain and heart, and is involved in synaptic plasticity, cardiac sodium channel regulation, and cell adhesion. It has been implicated in various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and potential regulation of oncogenic signaling pathways via palmitoylation of substrates (e.g., EGFR, PD-L1). | COSMIC, PubMed |
| Schizophrenia | Genetic association and altered expression in brain; potential role in synaptic function. | ClinVar, PubMed |
| Cardiac arrhythmia | Regulation of cardiac sodium channel (Nav1.5) palmitoylation, affecting channel function. | PubMed |
| Intellectual disability | Rare variants identified in patients; functional studies suggest impact on neuronal development. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | nTPM ~ 50-100 (GTEx) |
| Heart | Moderate | nTPM ~ 20-50 |
| Lung | Low | nTPM ~ 5-10 |
| Liver | Low | nTPM ~ 5 |
| Kidney | Low | nTPM ~ 5-10 |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | Moderate | Commonly used for functional studies |
| SH-SY5Y | High | Neuronal cell line |
| HeLa | Low | Cervical cancer cell line |
| H9c2 | Moderate | Cardiomyocyte cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | Rare | Unknown; predicted damaging |
| c.1567G>A (p.Val523Met) | Missense | Rare | Unknown; predicted benign |
| c.789del (p.Gly264Alafs*23) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or reduced enzymatic activity.
Gain of Function (GOF)
Not well characterized; some missense variants may increase activity or alter substrate specificity.
Dominant Negative (DN)
Possible for some missense mutations that disrupt dimerization or substrate binding.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Protein palmitoylation
• Synaptic signaling
• Cardiac conduction
• EGFR signaling
Protein Summary
ZDHHC5 is a 715-amino acid protein with a conserved DHHC domain essential for palmitoyltransferase activity. It localizes to the plasma membrane and Golgi, where it palmitoylates various substrates, including ion channels, receptors, and scaffolding proteins. Its activity is regulated by phosphorylation and interaction with other proteins. ZDHHC5 plays critical roles in neuronal plasticity, cardiac excitability, and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC5 Knockout HEK293 Cell Line | EDJ-KQ3208 | Human | 25921 | Details Get a Quote |
| ZDHHC5 Knockout A-549 Cell Line | EDJ-KQ26033 | Human | 25921 | Details Get a Quote |
| ZDHHC5 Knockout HCT 116 Cell Line | EDJ-KQ26035 | Human | 25921 | Details Get a Quote |
| ZDHHC5 Knockout HeLa Cell Line | EDJ-KQ26036 | Human | 25921 | Details Get a Quote |
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