ACCSL: 1-Aminocyclopropane-1-Carboxylate Synthase Like
A gene encoding a putative aminocyclopropane-1-carboxylate synthase-like protein with potential roles in metabolic processes.
Gene Information Card
| Symbol | ACCSL |
|---|---|
| Full Name | 1-aminocyclopropane-1-carboxylate synthase like |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 390110 ncbi.nlm.nih.gov/gene/390110 |
| Ensembl ID | ENSG00000196419 |
| UniProt ID | Q5T8P5 |
| OMIM ID | 614409 |
| HGNC ID | 34429 |
| Aliases | FLJ40504, MGC16384 |
Description
ACCSL (1-aminocyclopropane-1-carboxylate synthase like) is a protein-coding gene located on chromosome 11q13.2. The encoded protein is predicted to be involved in the biosynthesis of 1-aminocyclopropane-1-carboxylate, a precursor of ethylene in plants, but its function in humans remains largely uncharacterized. Expression data suggest low to moderate levels in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease associations currently curated | Not applicable | No evidence in ClinVar, OMIM, or COSMIC as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 2.3 | Low |
| Brain | 1.1 | Low |
| Kidney | 0.8 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 1.5 | Low expression |
| HeLa | 0.9 | Not detected |
| K562 | 0.6 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
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：
Protein Summary
The ACCSL protein (UniProt Q5T8P5) is a 448-amino acid polypeptide with a predicted molecular mass of approximately 50 kDa. It shares sequence similarity with bacterial and plant 1-aminocyclopropane-1-carboxylate synthases, but its enzymatic activity and biological role in humans have not been experimentally confirmed. No functional domains or post-translational modifications have been characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACCSL Knockout HEK293 Cell Line | EDJ-KQ11487 | Human | 390110 | Details Get a Quote |
| ACCSL Knockout HeLa Cell Line | EDJ-KQ60136 | Human | 390110 | Details Get a Quote |
| ACCSL Knockout A-549 Cell Line | EDJ-KQ68597 | Human | 390110 | Details Get a Quote |
| ACCSL Knockout HCT 116 Cell Line | EDJ-KQ76966 | Human | 390110 | Details Get a Quote |
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