ZDHHC14
Zinc Finger DHHC-Type Palmitoyltransferase 14
Gene Information Card
| Symbol | ZDHHC14 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 14 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q25.3 |
| NCBI Gene ID | 79683 ncbi.nlm.nih.gov/gene/79683 |
| Ensembl ID | ENSG00000112742 |
| UniProt ID | Q8N4V2 |
| OMIM ID | 617074 |
| HGNC ID | 20749 |
| Aliases | DHHC14, NEW1CP, ZNF379 |
Description
ZDHHC14 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 membrane tethering, trafficking, and signaling. ZDHHC14 is involved in neuronal development, synaptic function, and has been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of ZDHHC14 promotes cell proliferation and migration via palmitoylation of target proteins | PMID: 31209404 |
| Colorectal cancer | ZDHHC14 upregulation correlates with poor prognosis and may enhance Wnt signaling | PMID: 32697975 |
| Neurodevelopmental disorders | Rare variants in ZDHHC14 associated with intellectual disability and autism spectrum disorder | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Colon | 15.2 | Medium |
| Testis | 20.1 | High |
| Kidney | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | Embryonic kidney cells |
| HepG2 | 22.1 | Hepatocellular carcinoma cells |
| SH-SY5Y | 14.8 | Neuroblastoma cells |
| HT-29 | 19.3 | Colorectal adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | 0.01% (gnomAD) | Unknown functional impact; reported in neurodevelopmental cohort |
| c.1420G>A (p.Gly474Arg) | Missense | 0.005% (gnomAD) | Predicted damaging; associated with intellectual disability |
| c.1789_1791del (p.Phe597del) | In-frame deletion | 0.002% (gnomAD) | May disrupt DHHC domain and catalytic activity |
Mutation functional classification
Loss of Function (LOF)
Missense variants in the DHHC domain (e.g., p.Gly474Arg) are predicted to impair palmitoyltransferase activity.
Gain of Function (GOF)
Not well characterized; overexpression in cancer suggests potential gain-of-function effects.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • C-terminal protein palmitoyltransferase activity (GO:0016408) | • Golgi apparatus (GO:0005794) |
| • integral component of membrane (GO:0016021) | • metalloexopeptidase activity (GO:0008235) |
| • protein palmitoylation (GO:0018345) |
Pathways
• Protein palmitoylation (Reactome: R-HSA-163841)
• Wnt signaling pathway (KEGG: hsa04310)
• Ras signaling pathway (KEGG: hsa04014)
Protein Summary
ZDHHC14 is a 622-amino acid multi-pass membrane protein localized to the Golgi apparatus. It contains a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for its palmitoyltransferase activity. The enzyme modifies diverse substrates including signaling proteins and receptors, influencing cell proliferation, migration, and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC14 Knockout HEK293 Cell Line | EDJ-KQ16208 | Human | 79683 | Details Get a Quote |
| ZDHHC14 Knockout A-549 Cell Line | EDJ-KQ46223 | Human | 79683 | Details Get a Quote |
| ZDHHC14 Knockout HCT 116 Cell Line | EDJ-KQ47465 | Human | 79683 | Details Get a Quote |
| ZDHHC14 Knockout HeLa Cell Line | EDJ-KQ47466 | Human | 79683 | Details Get a Quote |
