ACCS
1-Aminocyclopropane-1-Carboxylate Synthase Homolog (Inactive)
Gene Information Card
| Symbol | ACCS |
|---|---|
| Full Name | 1-Aminocyclopropane-1-Carboxylate Synthase Homolog (Inactive) |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 84680 ncbi.nlm.nih.gov/gene/84680 |
| Ensembl ID | ENSG00000148814 |
| UniProt ID | Q96LG1 |
| OMIM ID | 614404 |
| HGNC ID | 20290 |
| Aliases | PHACS, ACS, ACCS1 |
Description
ACCS encodes a homolog of 1-aminocyclopropane-1-carboxylate synthase, an enzyme involved in ethylene biosynthesis in plants. In humans, the protein is catalytically inactive and may play a role in cellular metabolism or signaling. The gene is located on chromosome 11p11.2 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No disease association reported | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Low |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Heart | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Embryonic kidney |
| HeLa | 10.2 | Cervical carcinoma |
| HepG2 | 8.5 | Hepatocellular carcinoma |
| K562 | 6.3 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.100C>T | Synonymous | <0.01% | No effect |
Mutation functional classification
Loss of Function (LOF)
No evidence of loss-of-function mutations in ClinVar or COSMIC.
Gain of Function (GOF)
No evidence of gain-of-function mutations.
Dominant Negative (DN)
No evidence of dominant-negative mutations.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003824 (catalytic activity) | • GO:0005737 (cytoplasm) |
Pathways
• Not assigned to any canonical pathway
Protein Summary
The ACCS protein (UniProt Q96LG1) is a 445-amino acid homolog of plant 1-aminocyclopropane-1-carboxylate synthase. It lacks catalytic activity due to key residue substitutions and is predicted to localize to the cytoplasm. Its biological function remains unclear.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACCS Knockout HEK293 Cell Line | EDJ-KQ10161 | Human | 84680 | Details Get a Quote |
| ACCSL Knockout HEK293 Cell Line | EDJ-KQ11487 | Human | 390110 | Details Get a Quote |
| ACCS Knockout A-549 Cell Line | EDJ-KQ36033 | Human | 84680 | Details Get a Quote |
| ACCS Knockout HCT 116 Cell Line | EDJ-KQ37269 | Human | 84680 | Details Get a Quote |
| ACCS Knockout HeLa Cell Line | EDJ-KQ37270 | Human | 84680 | 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 |
Displaying Records 1 To 8 Of 8 Records
