ABHD17C
Abhydrolase Domain Containing 17C, Depalmitoylase
Gene Information Card
| Symbol | ABHD17C |
|---|---|
| Full Name | Abhydrolase Domain Containing 17C |
| Gene Type | Protein coding |
| Chromosomal Location | 15q25.1 |
| NCBI Gene ID | 81926 ncbi.nlm.nih.gov/gene/81926 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q6PCB0 |
| OMIM ID | 618526 |
| HGNC ID | 25424 |
| Aliases | C15orf17, FAM108C1, FLJ22386 |
Description
ABHD17C (Abhydrolase Domain Containing 17C) is a protein-coding gene that encodes a member of the alpha/beta hydrolase superfamily. The protein functions as a depalmitoylase, removing palmitate modifications from proteins such as NRAS and R7BP, thereby regulating their membrane localization and signaling. ABHD17C is involved in protein depalmitoylation and is implicated in cancer and neurological processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered depalmitoylation of NRAS may affect oncogenic signaling | COSMIC: mutations observed in various cancers |
| Intellectual disability | Potential role in neuronal signaling via R7BP depalmitoylation | OMIM: 618526 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 11.2 | Medium |
| Testis | 8.5 | Medium |
| Lung | 6.3 | Low |
| Liver | 4.1 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | High expression |
| HeLa | 8.5 | Moderate expression |
| A549 | 6.2 | Low expression |
| K562 | 4.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166Gln) | Missense | 0.02% (gnomAD) | Unknown functional effect |
| c.104C>T (p.Pro35Leu) | Missense | 0.01% (gnomAD) | Unknown functional effect |
| c.1A>G (p.Met1?) | Start loss | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1?) are predicted to abolish protein expression.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • palmitoyl hydrolase activity | • protein depalmitoylation |
| • cytoplasm | • membrane |
Pathways
• Protein depalmitoylation
• RAS signaling
Protein Summary
ABHD17C is a 326-amino acid protein with an alpha/beta hydrolase domain. It catalyzes the removal of palmitate from cysteine residues of target proteins, including NRAS and R7BP. This depalmitoylase activity regulates protein trafficking and signaling. The protein is localized to the cytoplasm and membrane.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD17C Knockout HEK293 Cell Line | EDJ-KQ12251 | Human | 58489 | Details Get a Quote |
| ABHD17C Knockout A-549 Cell Line | EDJ-KQ41030 | Human | 58489 | Details Get a Quote |
| ABHD17C Knockout HCT 116 Cell Line | EDJ-KQ41031 | Human | 58489 | Details Get a Quote |
| ABHD17C Knockout HeLa Cell Line | EDJ-KQ41032 | Human | 58489 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
