ZDHHC17
Zinc Finger DHHC-Type Palmitoyltransferase 17
Gene Information Card
| Symbol | ZDHHC17 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 17 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q21.2 |
| NCBI Gene ID | 23390 ncbi.nlm.nih.gov/gene/23390 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8IUH5 |
| OMIM ID | 607799 |
| HGNC ID | 18412 |
| Aliases | HIP14, HIP3, HYPH, ZNF379 |
Description
ZDHHC17 encodes a member of the DHHC palmitoyltransferase family that catalyzes the addition of palmitate to cysteine residues of substrate proteins. The protein is highly expressed in the brain and is involved in the palmitoylation of huntingtin (HTT) and other neuronal proteins, affecting their trafficking, stability, and function. Mutations in ZDHHC17 have been associated with Huntington disease and other neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Huntington Disease | Impaired palmitoylation of mutant huntingtin leads to altered protein trafficking and aggregation | PMID: 15121876, ClinVar |
| Intellectual Disability | Loss-of-function variants disrupt neuronal palmitoylation and synaptic function | PMID: 29276005 |
| Schizophrenia | Reduced ZDHHC17 expression may affect glutamatergic signaling | PMID: 21804562 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 30.2 | High |
| Testis | 12.5 | Medium |
| Heart | 8.1 | Medium |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 25.0 | Neuronal model |
| HEK293 | 18.5 | High expression |
| HeLa | 10.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.169C>T (p.Arg57Trp) | Missense | <0.01% | Reduced palmitoyltransferase activity |
| c.1045G>A (p.Gly349Arg) | Missense | <0.01% | Impaired substrate binding |
| c.1234delC | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein with no enzymatic activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations may interfere with wild-type enzyme function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
| • Palmitoyltransferase activity | • Zinc ion binding |
| • Protein palmitoylation | • Neuron projection |
| • Synaptic vesicle membrane |
Pathways
• Protein palmitoylation
• Huntington disease pathway
• Synaptic vesicle cycle
Protein Summary
ZDHHC17 is a 632-amino acid transmembrane protein with a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for palmitoyltransferase activity. It localizes to the Golgi apparatus and endosomes, where it palmitoylates substrates including huntingtin, SNAP25, and postsynaptic density proteins. The protein contains an ankyrin repeat domain that mediates substrate recognition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC17 Knockout HEK293 Cell Line | EDJ-KQ7998 | Human | 23390 | Details Get a Quote |
| ZDHHC17 Knockout A-549 Cell Line | EDJ-KQ33742 | Human | 23390 | Details Get a Quote |
| ZDHHC17 Knockout HCT 116 Cell Line | EDJ-KQ33743 | Human | 23390 | Details Get a Quote |
| ZDHHC17 Knockout HeLa Cell Line | EDJ-KQ33744 | Human | 23390 | Details Get a Quote |
