ZDHHC1
Zinc Finger DHHC-Type Palmitoyltransferase 1
Gene Information Card
| Symbol | ZDHHC1 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 29800 ncbi.nlm.nih.gov/gene/29800 |
| Ensembl ID | ENSG00000103175 |
| UniProt ID | Q8WTX7 |
| OMIM ID | 618688 |
| HGNC ID | 19159 |
| Aliases | DHHC1, ZNF377, MDSR1 |
Description
ZDHHC1 encodes a member of the DHHC palmitoyltransferase family, which catalyzes the addition of palmitate to cysteine residues of target proteins. This post-translational modification regulates protein trafficking, membrane localization, and signaling. ZDHHC1 is involved in neuronal development, immune response, and cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered palmitoylation of signaling proteins (e.g., EGFR, Src) may promote oncogenic signaling. | COSMIC; PMID: 25691885 |
| Colorectal cancer | ZDHHC1 overexpression correlates with poor prognosis; potential role in Wnt/β-catenin pathway. | COSMIC; PMID: 28723891 |
| Schizophrenia | Genetic variants in ZDHHC1 associated with risk in GWAS studies. | ClinVar; PMID: 25056061 |
| Intellectual disability | De novo missense mutations reported in patients with neurodevelopmental delay. | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney cell line |
| SH-SY5Y | 18.7 | Neuroblastoma cell line |
| MCF7 | 22.1 | Breast cancer cell line |
| HCT116 | 19.4 | Colorectal carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | 0.001% (gnomAD) | Unknown; predicted damaging by SIFT/PolyPhen |
| c.1423G>A (p.Gly475Arg) | Missense | 0.0005% (gnomAD) | Reported in intellectual disability; functional impact unclear |
| c.1876_1878del (p.Phe626del) | In-frame deletion | 0.0002% (gnomAD) | May affect DHHC domain stability |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
Not established.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Palmitoylation pathway (Reactome: R-HSA-163841)
• Protein modification (UniProt: KW-0597)
Protein Summary
ZDHHC1 is a 727-amino acid multi-pass membrane protein containing a conserved DHHC (Asp-His-His-Cys) cysteine-rich domain essential for palmitoyltransferase activity. It localizes to the Golgi apparatus and plasma membrane, where it palmitoylates substrates including neuronal proteins and oncogenic signaling molecules. Expression is highest in brain and testis. Dysregulation is implicated in cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC15 Knockout HEK293 Cell Line | EDJ-KQ2290 | Human | 158866 | Details Get a Quote |
| ZDHHC13 Knockout HEK293 Cell Line | EDJ-KQ3209 | Human | 54503 | Details Get a Quote |
| ZDHHC17 Knockout HEK293 Cell Line | EDJ-KQ7998 | Human | 23390 | Details Get a Quote |
| ZDHHC19 Knockout HEK293 Cell Line | EDJ-KQ8501 | Human | 131540 | Details Get a Quote |
| ZDHHC1 Knockout HEK293 Cell Line | EDJ-KQ9050 | Human | 29800 | Details Get a Quote |
| ZDHHC18 Knockout HEK293 Cell Line | EDJ-KQ10025 | Human | 84243 | Details Get a Quote |
| ZDHHC16 Knockout HEK293 Cell Line | EDJ-KQ10052 | Human | 84287 | Details Get a Quote |
| ZDHHC12 Knockout HEK293 Cell Line | EDJ-KQ10234 | Human | 84885 | Details Get a Quote |
| ZDHHC11 Knockout HEK293 Cell Line | EDJ-KQ16205 | Human | 79844 | Details Get a Quote |
| ZDHHC11B Knockout HEK293 Cell Line | EDJ-KQ16206 | Human | 653082 | Details Get a Quote |
| ZDHHC14 Knockout HEK293 Cell Line | EDJ-KQ16208 | Human | 79683 | Details Get a Quote |
| ZDHHC18 Knockout A-549 Cell Line | EDJ-KQ37016 | Human | 84243 | Details Get a Quote |
| ZDHHC18 Knockout HCT 116 Cell Line | EDJ-KQ37017 | Human | 84243 | Details Get a Quote |
| ZDHHC18 Knockout HeLa Cell Line | EDJ-KQ37018 | Human | 84243 | Details Get a Quote |
| ZDHHC16 Knockout A-549 Cell Line | EDJ-KQ37083 | Human | 84287 | Details Get a Quote |
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