ZDHHC13
Zinc Finger DHHC-Type Palmitoyltransferase 13
Gene Information Card
| Symbol | ZDHHC13 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.1 |
| NCBI Gene ID | 54503 ncbi.nlm.nih.gov/gene/54503 |
| Ensembl ID | ENSG00000110367 |
| UniProt ID | Q8N5L8 |
| OMIM ID | 617205 |
| HGNC ID | 20719 |
| Aliases | HIP14L, ZNF377, DHHC13 |
Description
ZDHHC13 encodes a member of the DHHC family of zinc finger palmitoyltransferases. The protein localizes to the Golgi apparatus and is involved in the palmitoylation of various substrates, including huntingtin (HTT). It plays a role in neuronal function and has been implicated in Huntington disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Huntington disease | Altered palmitoylation of huntingtin protein may affect its trafficking and aggregation | Association reported in literature; functional studies in model organisms |
| Breast cancer | Potential role in tumor suppression via palmitoylation of signaling proteins | Expression changes observed in cancer cell lines |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Medium |
| Heart | 3.1 | Low |
| Liver | 1.8 | Low |
| Kidney | 4.0 | Medium |
| Testis | 6.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.0 | High expression |
| HeLa | 4.5 | Moderate expression |
| SH-SY5Y | 6.2 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1048C>T (p.Arg350Trp) | Missense | Rare | Unknown functional effect |
| c.1522G>A (p.Gly508Arg) | Missense | Rare | Potential loss of palmitoyltransferase activity |
Mutation functional classification
Loss of Function (LOF)
Mutations in the DHHC domain may impair catalytic activity, reducing palmitoylation of substrates.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：ClinVar: https://www.clinvar.com/gene/54503 COSMIC: https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=ZDHHC13
Gene Ontology (GO)
| • GO:0016407 (acetyltransferase activity) | • GO:0005794 (Golgi apparatus) |
| • GO:0018230 (peptidyl-L-cysteine S-palmitoylation) | • GO:0046872 (metal ion binding) |
Pathways
• Palmitoylation of huntingtin (HTT)
• Protein palmitoylation pathway
Protein Summary
ZDHHC13 is a 632-amino acid protein containing a DHHC domain and ankyrin repeats. It functions as a palmitoyltransferase that adds palmitate to cysteine residues of target proteins, influencing their localization and stability. It is highly expressed in brain and testis.
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC13 Knockout HEK293 Cell Line | EDJ-KQ3209 | Human | 54503 | Details Get a Quote |
| ZDHHC13 Knockout A-549 Cell Line | EDJ-KQ24676 | Human | 54503 | Details Get a Quote |
| ZDHHC13 Knockout HCT 116 Cell Line | EDJ-KQ24677 | Human | 54503 | Details Get a Quote |
| ZDHHC13 Knockout HeLa Cell Line | EDJ-KQ24678 | Human | 54503 | Details Get a Quote |
| Zdhhc13 Knockout RAW 264.7 Cell Line | EDJ-KZ89 | Mouse | 243983 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
