ACER1: Alkaline Ceramidase 1
Key regulator of ceramide metabolism and sphingolipid signaling
Gene Information Card
| Symbol | ACER1 |
|---|---|
| Full Name | Alkaline Ceramidase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 125981 ncbi.nlm.nih.gov/gene/125981 |
| Ensembl ID | ENSG00000167768 |
| UniProt ID | Q8TDN7 |
| OMIM ID | 613798 |
| HGNC ID | 23666 |
| Aliases | ASAH3, ASAH3L, N-acylsphingosine amidohydrolase 3 |
Description
ACER1 encodes alkaline ceramidase 1, an enzyme that catalyzes the hydrolysis of ceramide into sphingosine and free fatty acids at alkaline pH. This reaction is critical for regulating cellular ceramide levels, sphingosine-1-phosphate signaling, and sphingolipid homeostasis. ACER1 is involved in skin barrier formation, keratinocyte differentiation, and apoptosis modulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Skin barrier dysfunction | Reduced ACER1 activity leads to ceramide accumulation, impairing stratum corneum integrity | PMID: 21558561 |
| Colorectal cancer | ACER1 downregulation promotes ceramide accumulation and tumor progression | PMID: 26921321 |
| Atopic dermatitis | Altered ACER1 expression contributes to abnormal ceramide composition in skin | PMID: 23467247 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | High |
| Esophagus | 8.3 | Medium |
| Breast | 4.1 | Low |
| Lung | 2.7 | Low |
| Colon | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 15.2 | High expression in skin-derived cells |
| A549 (lung carcinoma) | 3.8 | Moderate expression |
| HCT116 (colorectal carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.538C>T (p.Arg180Trp) | Missense | <0.01% | Reduced enzymatic activity in vitro |
| c.742G>A (p.Gly248Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
p.Arg180Trp reduces ceramide hydrolysis activity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • GO:0017040 - ceramidase activity | • GO:0046513 - ceramide metabolic process |
| • GO:0006672 - ceramide biosynthetic process | • GO:0005886 - plasma membrane |
Pathways
• Sphingolipid metabolism (Reactome: R-HSA-428157)
• Sphingosine-1-phosphate signaling (KEGG: hsa00600)
Protein Summary
Alkaline ceramidase 1 (ACER1) is a 264-amino acid transmembrane protein localized to the Golgi apparatus and endoplasmic reticulum. It belongs to the alkaline ceramidase family and requires calcium ions for optimal activity. The enzyme plays a key role in skin barrier function by regulating ceramide levels in keratinocytes. ACER1 also influences cell proliferation and apoptosis through sphingosine-1-phosphate generation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACER1 Knockout HEK293 Cell Line | EDJ-KQ1745 | Human | 125981 | Details Get a Quote |
| ACER1 Knockout HeLa Cell Line | EDJ-KQ58160 | Human | 125981 | Details Get a Quote |
| ACER1 Knockout A-549 Cell Line | EDJ-KQ66645 | Human | 125981 | Details Get a Quote |
| ACER1 Knockout HCT 116 Cell Line | EDJ-KQ75065 | Human | 125981 | Details Get a Quote |
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