ZDHHC7
Zinc Finger DHHC-Type Palmitoyltransferase 7
Gene Information Card
| Symbol | ZDHHC7 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 55625 ncbi.nlm.nih.gov/gene/55625 |
| Ensembl ID | ENSG00000103197 |
| UniProt ID | Q9NXF8 |
| OMIM ID | 617865 |
| HGNC ID | 20759 |
| Aliases | DHHC7, ZNF370, FLJ12606 |
Description
ZDHHC7 encodes a member of the DHHC family of zinc finger palmitoyltransferases. The enzyme catalyzes the addition of palmitate to cysteine residues of substrate proteins, a reversible post-translational modification critical for membrane targeting, trafficking, and function of numerous proteins. ZDHHC7 is involved in neuronal signaling, synaptic plasticity, and cancer-related pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered palmitoylation of oncogenic substrates (e.g., EGFR, Src) may promote tumor growth and metastasis. | PMID: 25605249 |
| Schizophrenia | ZDHHC7 variants associated with altered palmitoylation of synaptic proteins, affecting neurotransmission. | PMID: 25056061 |
| Intellectual disability | Loss-of-function mutations impair palmitoylation of neuronal proteins, disrupting synaptic function. | PMID: 27545674 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.7 | Low |
| Lung | 6.2 | Low |
| Liver | 4.1 | Not detected |
| Kidney | 5.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| SH-SY5Y | 11.8 | Neuronal model |
| MCF7 | 9.4 | Breast cancer line |
| HepG2 | 3.1 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.491G>A (p.Arg164His) | Missense | <0.01% | Unknown functional impact |
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function |
| c.1282G>A (p.Gly428Arg) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutation p.Arg349* leads to truncated protein lacking catalytic DHHC domain.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not established for ZDHHC7.
View complete mutation data:
Gene Ontology (GO)
| • peptidyl-L-cysteine S-palmitoylation (GO:0018230) | • Golgi apparatus (GO:0005794) |
| • integral component of membrane (GO:0016021) | • zinc ion binding (GO:0008270) |
| • palmitoyltransferase activity (GO:0016409) |
Pathways
• Palmitoylation of proteins (Reactome: R-HSA-163841)
• Protein modification (Reactome: R-HSA-597592)
Protein Summary
ZDHHC7 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 apparatus and catalyzes S-palmitoylation of diverse substrates including neuronal proteins (e.g., PSD-95, GAP43) and signaling molecules (e.g., Src family kinases). The enzyme plays a role in synaptic plasticity, receptor trafficking, and cell signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC7 Knockout HEK293 Cell Line | EDJ-KQ3630 | Human | 55625 | Details Get a Quote |
| ZDHHC7 Knockout A-549 Cell Line | EDJ-KQ25572 | Human | 55625 | Details Get a Quote |
| ZDHHC7 Knockout HCT 116 Cell Line | EDJ-KQ25573 | Human | 55625 | Details Get a Quote |
| ZDHHC7 Knockout HeLa Cell Line | EDJ-KQ25574 | Human | 55625 | Details Get a Quote |
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