ABHD13: Alpha/Beta Hydrolase Domain Containing 13
A gene encoding a member of the serine hydrolase superfamily with potential roles in lipid metabolism and cellular signaling.
Gene Information Card
| Symbol | ABHD13 |
|---|---|
| Full Name | Alpha/Beta Hydrolase Domain Containing 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.12 |
| NCBI Gene ID | 84945 ncbi.nlm.nih.gov/gene/84945 |
| Ensembl ID | ENSG00000133101 |
| UniProt ID | Q7L3V2 |
| OMIM ID | 617093 |
| HGNC ID | 25468 |
| Aliases | FLJ21106, MGC13170 |
Description
ABHD13 (Alpha/Beta Hydrolase Domain Containing 13) is a protein-coding gene located on chromosome 13q12.12. It encodes a member of the alpha/beta hydrolase superfamily, characterized by a conserved catalytic triad (Ser-Asp-His). The protein is predicted to possess serine hydrolase activity, potentially involved in lipid metabolism or signaling. ABHD13 is widely expressed in various tissues, with highest levels in the brain and testis. Its exact biological function remains under investigation, but alterations in expression have been noted in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression; potential role in tumor suppression or progression | COSMIC: somatic mutations observed in multiple cancer types |
| Glioblastoma | Downregulation of ABHD13 may contribute to tumorigenesis | NCBI Gene: expression changes noted in glioma studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Lung | 6.2 | Low |
| Liver | 4.1 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | Embryonic kidney; moderate expression |
| HeLa | 5.3 | Cervical cancer; low expression |
| A549 | 4.8 | Lung cancer; low expression |
| K562 | 3.2 | Leukemia; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153*) | Nonsense | Rare | Premature stop; likely loss of function |
| c.782A>G (p.Tyr261Cys) | Missense | Rare | Substitution in hydrolase domain; functional impact unknown |
| c.1003_1004insA | Frameshift | Rare | Frameshift; predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg153*, c.1003_1004insA) are predicted to cause loss of function by truncating the protein or disrupting the catalytic domain.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ABHD13.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ABHD13.
View complete mutation data：
Gene Ontology (GO)
| • GO:0016787 - hydrolase activity | • GO:0005737 - cytoplasm |
| • GO:0005515 - protein binding |
Pathways
• No specific pathways are currently curated for ABHD13 in major databases.
Protein Summary
The ABHD13 protein (UniProt Q7L3V2) is a 346-amino acid serine hydrolase containing an alpha/beta hydrolase fold. It features a catalytic triad (Ser153, Asp261, His291) typical of this enzyme family. The protein is localized to the cytoplasm and may participate in lipid metabolism or signal transduction. Structural predictions suggest a globular domain with a central beta-sheet flanked by alpha-helices. Post-translational modifications and detailed enzymatic substrates remain to be elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD13 Knockout HEK293 Cell Line | EDJ-KQ10274 | Human | 84945 | Details Get a Quote |
| ABHD13 Knockout A-549 Cell Line | EDJ-KQ37519 | Human | 84945 | Details Get a Quote |
| ABHD13 Knockout HCT 116 Cell Line | EDJ-KQ37520 | Human | 84945 | Details Get a Quote |
| ABHD13 Knockout HeLa Cell Line | EDJ-KQ37521 | Human | 84945 | Details Get a Quote |
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