ABHD1: Alpha/Beta Hydrolase Domain Containing 1
A gene encoding a member of the serine hydrolase superfamily with potential roles in lipid metabolism and cellular signaling.
Gene Information Card
| Symbol | ABHD1 |
|---|---|
| Full Name | Alpha/Beta Hydrolase Domain Containing 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p23.3 |
| NCBI Gene ID | 84696 ncbi.nlm.nih.gov/gene/84696 |
| Ensembl ID | ENSG00000115138 |
| UniProt ID | Q96GS6 |
| OMIM ID | 612191 |
| HGNC ID | 18757 |
| Aliases | LABH1, MGC13170 |
Description
ABHD1 (Alpha/Beta Hydrolase Domain Containing 1) is a protein-coding gene located on chromosome 2p23.3. It encodes a member of the serine hydrolase superfamily, characterized by an alpha/beta hydrolase fold. The protein is predicted to have esterase or lipase activity and may be involved in lipid metabolism and cellular signaling. ABHD1 is expressed in various tissues, with notable levels in the liver and kidney. Its biological function is not fully characterized, but it is implicated in metabolic processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not established | No evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 6.1 | Low |
| Lung | 4.7 | Low |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver cancer cell line |
| HEK 293 | 7.8 | Embryonic kidney cells |
| A549 | 5.4 | Lung carcinoma cells |
| K562 | 3.1 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • GO:0016787 - hydrolase activity | • GO:0005737 - cytoplasm |
| • GO:0006629 - lipid metabolic process |
Pathways
• No specific pathways curated
Protein Summary
The ABHD1 protein (UniProt Q96GS6) is a 339-amino acid serine hydrolase with an alpha/beta hydrolase domain. It is predicted to localize to the cytoplasm and may function as an esterase or lipase, potentially involved in lipid metabolism. The protein structure includes a catalytic triad typical of serine hydrolases. Its precise physiological substrates and biological roles remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABHD16A Knockout HEK293 Cell Line | EDJ-KQ6143 | Human | 7920 | Details Get a Quote |
| ABHD15 Knockout HEK293 Cell Line | EDJ-KQ7556 | Human | 116236 | Details Get a Quote |
| ABHD12 Knockout HEK293 Cell Line | EDJ-KQ8394 | Human | 26090 | Details Get a Quote |
| ABHD16B Knockout HEK293 Cell Line | EDJ-KQ8999 | Human | 140701 | Details Get a Quote |
| ABHD14B Knockout HEK293 Cell Line | EDJ-KQ9445 | Human | 84836 | Details Get a Quote |
| ABHD18 Knockout HEK293 Cell Line | EDJ-KQ9474 | Human | 80167 | Details Get a Quote |
| ABHD17A Knockout HEK293 Cell Line | EDJ-KQ9779 | Human | 81926 | Details Get a Quote |
| ABHD1 Knockout HEK293 Cell Line | EDJ-KQ10170 | Human | 84696 | Details Get a Quote |
| ABHD13 Knockout HEK293 Cell Line | EDJ-KQ10274 | Human | 84945 | Details Get a Quote |
| ABHD12B Knockout HEK293 Cell Line | EDJ-KQ10441 | Human | 145447 | Details Get a Quote |
| ABHD17B Knockout HEK293 Cell Line | EDJ-KQ10919 | Human | 51104 | Details Get a Quote |
| ABHD10 Knockout HEK293 Cell Line | EDJ-KQ12250 | Human | 55347 | Details Get a Quote |
| ABHD17C Knockout HEK293 Cell Line | EDJ-KQ12251 | Human | 58489 | Details Get a Quote |
| ABHD16A Knockout A-549 Cell Line | EDJ-KQ29931 | Human | 7920 | Details Get a Quote |
| ABHD16A Knockout HCT 116 Cell Line | EDJ-KQ29932 | Human | 7920 | Details Get a Quote |
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