ZDHHC20
Zinc Finger DHHC-Type Palmitoyltransferase 20
Gene Information Card
| Symbol | ZDHHC20 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.12 |
| NCBI Gene ID | 253832 ncbi.nlm.nih.gov/gene/253832 |
| Ensembl ID | ENSG00000180785 |
| UniProt ID | Q5W0Z9 |
| OMIM ID | 617527 |
| HGNC ID | 20749 |
| Aliases | DHHC-20, DHHC20, ZNF378 |
Description
ZDHHC20 encodes a member of the DHHC palmitoyltransferase family that catalyzes the addition of palmitate to cysteine residues of substrate proteins, a process critical for membrane targeting, protein stability, and signaling. The enzyme is localized to the Golgi apparatus and plasma membrane and is involved in palmitoylation of proteins such as Ras and Src-family kinases. ZDHHC20 has been implicated in cancer progression and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered palmitoylation of oncogenic proteins (e.g., NRAS, SRC) may enhance membrane localization and signaling | COSMIC; PMID: 29395067 |
| Intellectual disability | Potential role in neuronal palmitoylation; rare variants reported | ClinVar; PMID: 27545674 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 8.7 | Low |
| Liver | 6.3 | Low |
| Kidney | 12.1 | Medium |
| Testis | 20.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.4 | High expression |
| HeLa | 9.2 | Moderate expression |
| A549 | 7.8 | Low expression |
| K562 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; rare population variant |
| c.457G>A (p.Gly153Ser) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
| c.682C>T (p.Arg228*) | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein lacking catalytic DHHC domain.
Gain of Function (GOF)
Not well characterized; some missense variants may increase palmitoyltransferase activity.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:111045 (Palmitoylation of proteins)
• REACT:111046 (Palmitoylation of Ras family members)
• REACT:111047 (Palmitoylation of Src family kinases)
Protein Summary
ZDHHC20 is a 366-amino acid integral membrane protein with a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for palmitoyltransferase activity. It localizes to the Golgi and plasma membrane and mediates S-palmitoylation of diverse substrates, influencing their trafficking, membrane association, and function. The protein is broadly expressed, with highest levels in testis and brain. Dysregulation of ZDHHC20 has been linked to oncogenic signaling and potential neurodevelopmental phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC20 Knockout HEK293 Cell Line | EDJ-KQ11747 | Human | 253832 | Details Get a Quote |
| ZDHHC20 Knockout HCT 116 Cell Line | EDJ-KQ40123 | Human | 253832 | Details Get a Quote |
| ZDHHC20 Knockout HeLa Cell Line | EDJ-KQ40124 | Human | 253832 | Details Get a Quote |
| ZDHHC20 Knockout A-549 Cell Line | EDJ-KQ38859 | Human | 253832 | Details Get a Quote |
| ZDHHC20 Knockout VeroE6/TMPRSS2 Cell Line | EDJ-KZ9 | African green monkey | 103248984 | Details Get a Quote |
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