ABHD17A
Abhydrolase Domain Containing 17A, Depalmitoylase
Gene Information Card
| Symbol | ABHD17A |
|---|---|
| Full Name | Abhydrolase Domain Containing 17A |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 51306 ncbi.nlm.nih.gov/gene/51306 |
| Ensembl ID | ENSG00000104973 |
| UniProt ID | Q96GS6 |
| OMIM ID | 618362 |
| HGNC ID | 15700 |
| Aliases | ABHD17, FAM108A1, MGC13170 |
Description
ABHD17A encodes a member of the alpha/beta hydrolase domain-containing protein family. The protein functions as a depalmitoylase, removing palmitate from proteins such as NRAS and PSD95, thereby regulating protein localization and signaling. It is involved in synaptic plasticity and oncogenic RAS signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pancreatic, lung, melanoma) | ABHD17A depalmitoylates NRAS, promoting its membrane localization and oncogenic signaling; overexpression correlates with poor prognosis. | COSMIC, ClinVar |
| Neurodevelopmental disorders | Altered depalmitoylation of PSD95 may affect synaptic function; rare variants reported. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Pancreas | 6.1 | Low |
| Testis | 15.2 | Medium |
| Kidney | 7.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| A549 (lung cancer) | 9.5 | Moderate |
| PANC-1 (pancreatic cancer) | 11.2 | Moderate |
| SK-MEL-28 (melanoma) | 10.1 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215C>T (p.Pro72Leu) | Missense | <0.01% | Unknown functional effect |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Predicted damaging (SIFT, PolyPhen) |
| c.1A>G (p.Met1?) | Start loss | <0.01% | 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)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • palmitoyl hydrolase activity | • protein depalmitoylation |
| • synapse | • cytoplasm |
| • plasma membrane |
Pathways
• RAS signaling pathway
• Protein palmitoylation/depalmitoylation
Protein Summary
ABHD17A is a 338-amino acid protein with an alpha/beta hydrolase domain. It catalyzes the removal of palmitate from cysteine residues of substrate proteins, including NRAS and PSD95. This depalmitoylase activity regulates membrane association and signaling of these proteins. ABHD17A is localized to the cytoplasm and plasma membrane, and is highly expressed in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD17A Knockout HEK293 Cell Line | EDJ-KQ9779 | Human | 81926 | Details Get a Quote |
| ABHD17A Knockout A-549 Cell Line | EDJ-KQ36623 | Human | 81926 | Details Get a Quote |
| ABHD17A Knockout HCT 116 Cell Line | EDJ-KQ36624 | Human | 81926 | Details Get a Quote |
| ABHD17A Knockout HeLa Cell Line | EDJ-KQ36625 | Human | 81926 | Details Get a Quote |
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