ZDHHC16
Zinc Finger DHHC-Type Palmitoyltransferase 16
Gene Information Card
| Symbol | ZDHHC16 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 16 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q26.11 |
| NCBI Gene ID | 51387 ncbi.nlm.nih.gov/gene/51387 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q969Z0 |
| OMIM ID | 616270 |
| HGNC ID | 20714 |
| Aliases | APH2, DHHC-16, ZNF376 |
Description
ZDHHC16 encodes a member of the DHHC family of zinc finger palmitoyltransferases. These enzymes catalyze the addition of palmitate to cysteine residues of target proteins, a post-translational modification critical for protein membrane targeting, trafficking, and function. ZDHHC16 is involved in protein palmitoylation and has been implicated in neurodevelopment and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ZDHHC16 overexpression may promote tumor growth via altered palmitoylation of signaling proteins. | COSMIC; PMID: 25691885 |
| Intellectual disability | Mutations in ZDHHC16 are associated with autosomal recessive intellectual disability, likely due to impaired palmitoylation of neuronal proteins. | OMIM; PMID: 29100089 |
| Schizophrenia | Genetic variants in ZDHHC16 have been linked to schizophrenia risk in some populations. | ClinVar; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Heart | 6.2 | Medium |
| Liver | 4.1 | Low |
| Kidney | 5.8 | Medium |
| Testis | 9.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 7.1 | Moderate expression |
| HeLa | 5.4 | Low expression |
| SH-SY5Y | 9.8 | High expression (neuronal) |
| MCF7 | 6.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.394C>T (p.Arg132Trp) | Missense | <0.01% | Loss of palmitoyltransferase activity; associated with intellectual disability |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function; reported in ClinVar |
| c.1045G>A (p.Gly349Ser) | Missense | 0.02% | Uncertain significance; found in cancer samples (COSMIC) |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg132Trp) reduce or abolish palmitoyltransferase activity.
Gain of Function (GOF)
No gain-of-function mutations currently documented.
Dominant Negative (DN)
No dominant-negative mutations currently documented.
View complete mutation data：
Gene Ontology (GO)
| • Palmitoyltransferase activity | • Zinc ion binding |
| • Protein palmitoylation | • Membrane |
| • Endoplasmic reticulum |
Pathways
• Protein palmitoylation
• Ras signaling (via palmitoylation of Ras proteins)
Protein Summary
ZDHHC16 is a 438-amino acid integral membrane protein localized to the endoplasmic reticulum. It contains a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for its palmitoyltransferase activity. The enzyme adds palmitate to specific cysteine residues of substrate proteins, influencing their localization and function. ZDHHC16 is highly expressed in brain and testis, and its dysfunction is linked to neurodevelopmental disorders and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC16 Knockout HEK293 Cell Line | EDJ-KQ10052 | Human | 84287 | Details Get a Quote |
| ZDHHC16 Knockout A-549 Cell Line | EDJ-KQ37083 | Human | 84287 | Details Get a Quote |
| ZDHHC16 Knockout HCT 116 Cell Line | EDJ-KQ37084 | Human | 84287 | Details Get a Quote |
| ZDHHC16 Knockout HeLa Cell Line | EDJ-KQ37085 | Human | 84287 | Details Get a Quote |
