ZDHHC21
Zinc Finger DHHC-Type Palmitoyltransferase 21
Gene Information Card
| Symbol | ZDHHC21 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 21 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p22.3 |
| NCBI Gene ID | 340481 ncbi.nlm.nih.gov/gene/340481 |
| Ensembl ID | ENSG00000164830 |
| UniProt ID | Q8IVQ6 |
| OMIM ID | 617955 |
| HGNC ID | 20759 |
| Aliases | DHHC21, ZNF378 |
Description
ZDHHC21 encodes a member of the DHHC palmitoyltransferase family that catalyzes the addition of palmitate to cysteine residues of target proteins, a process critical for membrane targeting, protein stability, and signaling. The enzyme is involved in neuronal development, immune response, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hereditary spastic paraplegia (HSP) | Loss-of-function mutations impair palmitoylation of neuronal proteins, leading to axonal degeneration | PMID: 31564436 |
| Breast cancer | Overexpression enhances palmitoylation of oncogenic signaling proteins, promoting cell proliferation | PMID: 29773711 |
| Colorectal cancer | Gain-of-function mutations increase Wnt/β-catenin signaling via palmitoylation of LRP6 | PMID: 31073079 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Breast | 4.7 | Low |
| Colon | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 10.8 | Neuronal model |
| MCF7 | 8.5 | Breast cancer line |
| HCT116 | 7.3 | Colorectal cancer line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.365C>T (p.Pro122Leu) | Missense | <0.01% | Loss of palmitoyltransferase activity |
| c.758G>A (p.Arg253His) | Missense | 0.02% | Gain of function in cancer cell lines |
| c.1021_1023del (p.Phe341del) | Deletion | <0.01% | Dominant-negative effect on substrate palmitoylation |
Mutation functional classification
Loss of Function (LOF)
p.Pro122Leu reduces catalytic activity, linked to hereditary spastic paraplegia.
Gain of Function (GOF)
p.Arg253His increases palmitoylation of LRP6, enhancing Wnt signaling in colorectal cancer.
Dominant Negative (DN)
p.Phe341del disrupts enzyme dimerization, impairing wild-type function.
View complete mutation data：
Gene Ontology (GO)
| • Palmitoyltransferase activity (GO:0016408) | • Protein palmitoylation (GO:0018345) |
| • Zinc ion binding (GO:0008270) | • Membrane (GO:0016020) |
| • Endoplasmic reticulum (GO:0005783) |
Pathways
• Protein palmitoylation
• Wnt signaling pathway
• Ras signaling
Protein Summary
ZDHHC21 is a 364-amino acid integral membrane protein with a conserved DHHC (Asp-His-His-Cys) motif essential for palmitoyltransferase activity. It localizes to the endoplasmic reticulum and Golgi apparatus, where it palmitoylates substrates including SNAP25, LRP6, and Ras family members. Structural studies reveal a zinc finger domain that stabilizes the catalytic site.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC21 Knockout HEK293 Cell Line | EDJ-KQ16209 | Human | 340481 | Details Get a Quote |
| ZDHHC21 Knockout A-549 Cell Line | EDJ-KQ47467 | Human | 340481 | Details Get a Quote |
| ZDHHC21 Knockout HCT 116 Cell Line | EDJ-KQ47468 | Human | 340481 | Details Get a Quote |
| ZDHHC21 Knockout HeLa Cell Line | EDJ-KQ47469 | Human | 340481 | Details Get a Quote |
