ZDHHC9
Zinc Finger DHHC-Type Palmitoyltransferase 9
Gene Information Card
| Symbol | ZDHHC9 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 9 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq26.1 |
| NCBI Gene ID | 51114 ncbi.nlm.nih.gov/gene/51114 |
| Ensembl ID | ENSG00000101986 |
| UniProt ID | Q9Y6M1 |
| OMIM ID | 300646 |
| HGNC ID | 18473 |
| Aliases | DHHC9, ZDHHC9, CGI-89, DHHC-9, ZNF379 |
Description
ZDHHC9 encodes a member of the DHHC family of palmitoyltransferases that catalyze the addition of palmitate to cysteine residues in substrate proteins. The enzyme is localized to the endoplasmic reticulum and Golgi apparatus and is essential for the palmitoylation of RAS proteins (HRAS, NRAS, KRAS4A) and other signaling molecules. Mutations in ZDHHC9 cause X-linked intellectual disability (XLID) and are implicated in cancer through dysregulated RAS signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability (XLID) | Loss-of-function mutations impair RAS palmitoylation, disrupting neuronal signaling and synaptic function. | ClinVar, OMIM #300646 |
| RASopathies | Defective palmitoylation of RAS proteins alters membrane localization and signal transduction. | OMIM, PubMed |
| Cancer (colorectal, lung, pancreatic) | Somatic mutations and altered expression of ZDHHC9 modulate RAS oncogenic activity. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Pancreas | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.2 | Moderate expression |
| A549 | 9.8 | Moderate expression |
| MCF7 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116*) | Nonsense | <0.01% | Loss of function; associated with XLID |
| c.463G>A (p.Gly155Arg) | Missense | <0.01% | Impaired palmitoyltransferase activity |
| c.694C>T (p.Arg232Cys) | Missense | <0.01% | Reduced substrate binding |
| c.1000_1001del (p.Glu334fs) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that reduce or abolish palmitoyltransferase activity, leading to defective RAS palmitoylation and X-linked intellectual disability.
Gain of Function (GOF)
Not reported in ZDHHC9; gain-of-function mutations are not documented in current databases.
Dominant Negative (DN)
Not established; ZDHHC9 mutations are typically loss-of-function and X-linked recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RAS palmitoylation (Reactome R-HSA-9648025)
• Palmitoylation of HRAS
• NRAS
• KRAS4A (UniProt)
• Protein palmitoylation (Reactome R-HSA-163841)
Protein Summary
ZDHHC9 is a 364-amino acid integral membrane protein containing a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for palmitoyltransferase activity. It localizes to the Golgi and endoplasmic reticulum and mediates the S-palmitoylation of RAS family GTPases, which is critical for their membrane targeting and signaling. Loss of ZDHHC9 function leads to mislocalization of RAS proteins and is associated with X-linked intellectual disability. Altered expression in cancer may contribute to oncogenic RAS signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC9 Knockout HEK293 Cell Line | EDJ-KQ2760 | Human | 51114 | Details Get a Quote |
| ZDHHC9 Knockout A-549 Cell Line | EDJ-KQ23664 | Human | 51114 | Details Get a Quote |
| ZDHHC9 Knockout HCT 116 Cell Line | EDJ-KQ23665 | Human | 51114 | Details Get a Quote |
| ZDHHC9 Knockout HeLa Cell Line | EDJ-KQ23666 | Human | 51114 | Details Get a Quote |
| Zdhhc9 Knockout NIH 3T3 Cell Line | EDJ-KZ90 | Mouse | 208884 | Details Get a Quote |
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