ZDHHC18
Zinc Finger DHHC-Type Palmitoyltransferase 18
Gene Information Card
| Symbol | ZDHHC18 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 18 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 84243 ncbi.nlm.nih.gov/gene/84243 |
| Ensembl ID | ENSG00000117569 |
| UniProt ID | Q9NUE0 |
| OMIM ID | 617552 |
| HGNC ID | 20714 |
| Aliases | DHHC18, ZNF396 |
Description
ZDHHC18 encodes a member of the DHHC family of palmitoyltransferases, which catalyze the addition of palmitate to cysteine residues of target proteins. This post-translational modification regulates protein trafficking, membrane localization, and signaling. ZDHHC18 is involved in neuronal development, immune response, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered palmitoylation of oncogenes and tumor suppressors; ZDHHC18 overexpression linked to poor prognosis | COSMIC, ClinVar |
| Intellectual disability | Mutations affecting palmitoylation of synaptic proteins | OMIM |
| Schizophrenia | Dysregulation of palmitoylation in neuronal signaling | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney |
| SH-SY5Y | 14.3 | Neuroblastoma |
| A549 | 7.8 | Lung carcinoma |
| HepG2 | 5.9 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.500G>A (p.Arg167His) | Missense | 0.01% | Unknown functional impact |
| c.1024C>T (p.Arg342*) | Nonsense | <0.01% | Loss of function |
| c.763_765del (p.Lys255del) | In-frame deletion | 0.005% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing palmitoyltransferase activity.
Gain of Function (GOF)
Not well characterized; some missense variants may increase activity.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Protein palmitoyltransferase activity | • Zinc ion binding |
| • Membrane | • Endoplasmic reticulum |
| • Protein palmitoylation | • Neuron projection development |
Pathways
• Protein palmitoylation
• Ras signaling
• Synaptic vesicle cycle
Protein Summary
ZDHHC18 is a 438-amino acid transmembrane protein localized to the endoplasmic reticulum and Golgi apparatus. It contains a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for palmitoyltransferase activity. The enzyme modifies diverse substrates including Ras GTPases, G protein-coupled receptors, and synaptic proteins, influencing cell proliferation, differentiation, and neurotransmission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC18 Knockout HEK293 Cell Line | EDJ-KQ10025 | Human | 84243 | Details Get a Quote |
| ZDHHC18 Knockout A-549 Cell Line | EDJ-KQ37016 | Human | 84243 | Details Get a Quote |
| ZDHHC18 Knockout HCT 116 Cell Line | EDJ-KQ37017 | Human | 84243 | Details Get a Quote |
| ZDHHC18 Knockout HeLa Cell Line | EDJ-KQ37018 | Human | 84243 | Details Get a Quote |
