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.

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 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
Displaying Records 1 To 4 Of 4 Records
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