ZDHHC15
Zinc Finger DHHC-Type Palmitoyltransferase 15
Gene Information Card
| Symbol | ZDHHC15 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 15 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.3 |
| NCBI Gene ID | 158866 ncbi.nlm.nih.gov/gene/158866 |
| Ensembl ID | ENSG00000102383 |
| UniProt ID | Q96MV8 |
| OMIM ID | 300576 |
| HGNC ID | 20701 |
| Aliases | DHHC15, ZNF379 |
Description
ZDHHC15 encodes a member of the DHHC family of palmitoyltransferases that catalyze the addition of palmitate to cysteine residues on target proteins. This post-translational modification regulates protein trafficking, membrane localization, and signaling. ZDHHC15 is highly expressed in the brain and is implicated in neuronal development and X-linked intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations in ZDHHC15 impair palmitoylation of neuronal substrates, disrupting synaptic function and cognitive development. | OMIM #300576; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Testis | 4.1 | Low |
| Adrenal gland | 3.5 | Low |
| Thyroid | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 6.5 | Neuroblastoma cell line |
| HEK293 | 3.2 | Embryonic kidney cells |
| HeLa | 2.1 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.520C>T (p.Arg174*) | Nonsense | Rare | Loss of function; associated with X-linked intellectual disability |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; predicted to abolish translation |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, reducing palmitoyltransferase activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Palmitoyltransferase activity | • Zinc ion binding |
| • Protein palmitoylation | • Membrane |
| • Endoplasmic reticulum |
Pathways
• Protein palmitoylation
• Neuronal system
Protein Summary
ZDHHC15 is a 299-amino acid integral membrane protein containing a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for palmitoyltransferase activity. It localizes to the endoplasmic reticulum and Golgi apparatus and mediates palmitoylation of neuronal proteins such as PSD-95 and GRIN2B, influencing synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC15 Knockout HEK293 Cell Line | EDJ-KQ2290 | Human | 158866 | Details Get a Quote |
| ZDHHC15 Knockout HeLa Cell Line | EDJ-KQ58796 | Human | 158866 | Details Get a Quote |
| ZDHHC15 Knockout A-549 Cell Line | EDJ-KQ67280 | Human | 158866 | Details Get a Quote |
| ZDHHC15 Knockout HCT 116 Cell Line | EDJ-KQ75680 | Human | 158866 | Details Get a Quote |
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