ABHD17B
Abhydrolase Domain Containing 17B, Depalmitoylase
Gene Information Card
| Symbol | ABHD17B |
|---|---|
| Full Name | Abhydrolase Domain Containing 17B |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 84979 ncbi.nlm.nih.gov/gene/84979 |
| Ensembl ID | ENSG00000165029 |
| UniProt ID | Q5VST6 |
| OMIM ID | 618362 |
| HGNC ID | 28790 |
| Aliases | ABHD17B, C9orf78, FLJ22386 |
Description
ABHD17B is a protein-coding gene that encodes a member of the alpha/beta hydrolase domain-containing protein family. The encoded enzyme functions as a depalmitoylase, removing palmitate modifications from proteins, thereby regulating protein localization and signaling. ABHD17B is involved in the dynamic palmitoylation cycle of various substrates, including Ras family proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered depalmitoylation of oncogenic proteins may affect signaling pathways | COSMIC; limited direct evidence |
| Neurodevelopmental disorders | Potential role in synaptic protein palmitoylation | OMIM; inferred from family studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.1 | Medium expression |
| A549 | 7.8 | Medium expression |
| K562 | 3.4 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.365C>T (p.Pro122Leu) | Missense | <0.01% | Unknown; likely benign |
| c.478G>A (p.Gly160Ser) | Missense | <0.01% | Unknown; likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • hydrolase activity | • protein depalmitoylation |
| • palmitoyl hydrolase activity | • cytoplasm |
| • membrane |
Pathways
• Protein palmitoylation
• Ras signaling
Protein Summary
ABHD17B is a 349-amino acid protein with an alpha/beta hydrolase domain. It localizes to the cytoplasm and membranes, where it catalyzes the removal of palmitate groups from cysteine residues of substrate proteins. This depalmitoylase activity is critical for regulating the subcellular localization and function of palmitoylated proteins, including small GTPases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD17B Knockout HEK293 Cell Line | EDJ-KQ10919 | Human | 51104 | Details Get a Quote |
| ABHD17B Knockout A-549 Cell Line | EDJ-KQ38671 | Human | 51104 | Details Get a Quote |
| ABHD17B Knockout HCT 116 Cell Line | EDJ-KQ38672 | Human | 51104 | Details Get a Quote |
| ABHD17B Knockout HeLa Cell Line | EDJ-KQ38673 | Human | 51104 | Details Get a Quote |
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