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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ACER1
alkaline ceramidase 1
Chromosome 19 · 19p13.3
NCBI Gene: 125981Ensembl: ENSG00000167769.5HGNC: HGNC:18356UniProt: Q8TDN7
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingN-acylsphingosine amidohydrolase activitysphingolipid biosynthetic processcell differentiationneurodegenerative diseaseblood coagulation diseasehead and neck squamous cell carcinomaage-related macular degeneration
✦AI Summary

ACER1 (alkaline ceramidase 1) is an endoplasmic reticulum membrane enzyme that catalyzes the hydrolysis of ceramides into sphingosine and free fatty acids at alkaline pH 1. The enzyme exhibits strong substrate specificity for natural D-erythro-sphingosine-containing ceramides, with higher activity toward very long-chain unsaturated fatty acids like C24:1-ceramide 1. ACER1 functions as a skin-specific ceramidase that regulates sphingolipid homeostasis in the epidermis and mediates calcium-induced keratinocyte differentiation 1. Loss of ACER1 function leads to elevated ceramide levels in skin, aberrant hair formation, cyclic alopecia, increased transepidermal water loss, and hypermetabolism with reduced fat content 2. Beyond skin biology, ACER1 plays protective roles in vascular inflammation, where platelet-specific ACER1 deficiency increases susceptibility to abdominal aortic aneurysm formation through ceramide-p38 MAPK signaling 3. In inflammatory bowel disease, ACER1 maintains epithelial integrity, and ACER1 inhibition can attenuate colitis by remedying barrier dysfunction 4. Additionally, ACER1 functions as a tumor suppressor in head and neck squamous cell carcinoma, with reduced expression correlating with poor prognosis and altered immune infiltration 5.

Sources cited
1
ACER1 is an ER enzyme that hydrolyzes ceramides to sphingosine and fatty acids with specific substrate preferences
PMID: 33271224
2
ACER1 deficiency causes skin barrier defects, hair abnormalities, and metabolic dysfunction
PMID: 27126290
3
ACER1 in platelets protects against vascular inflammation and aneurysm formation
PMID: 39196139
4
ACER1 maintains intestinal epithelial integrity in inflammatory bowel disease
PMID: 38839750
5
ACER1 acts as tumor suppressor in head and neck cancer with prognostic significance
PMID: 39543336
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.40Weak
blood coagulation diseaseOpen Targets
0.17Weak
head and neck squamous cell carcinomaOpen Targets
0.07Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
hypotrichosis simplexOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
Alopecia universalisOpen Targets
0.06Suggestive
Alopecia-intellectual disability syndromeOpen Targets
0.06Suggestive
isolated familial wooly hair disorderOpen Targets
0.05Suggestive
Woolly hairOpen Targets
0.05Suggestive
retinitis pigmentosaOpen Targets
0.05Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.05Suggestive
uncombable hair syndromeOpen Targets
0.05Suggestive
Alzheimer diseaseOpen Targets
0.05Suggestive
esophageal adenocarcinomaOpen Targets
0.05Suggestive
wooly hair, autosomal recessive 3Open Targets
0.05Suggestive
hypotrichosis 4Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GALCProtein interaction97%GBA1Protein interaction97%SMPD1Protein interaction97%UGT8Protein interaction97%DEGS1Protein interaction97%SPTLC2Protein interaction97%
Tissue Expression6 tissues
Ovary
100%
Liver
98%
Bone Marrow
69%
Lung
48%
Brain
17%
Heart
0%
Gene Interaction Network
Click a node to explore
ACER1GALCGBA1SMPD1UGT8DEGS1SPTLC2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TDN7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.41LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.05 [0.78–1.41]
RankingsWhere ACER1 stands among ~20K protein-coding genes
  • #16,082of 20,598
    Most Researched13
  • #14,586of 17,882
    Most Constrained (LOEUF)1.41
Genes detectedACER1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Alkaline ceramidase 1-mediated platelet ceramide catabolism mitigates vascular inflammation and abdominal aortic aneurysm formation.
PMID: 39196139
Nat Cardiovasc Res · 2023
1.00
2
Mitochondrial oxidative damage reprograms lipid metabolism of renal tubular epithelial cells in the diabetic kidney.
PMID: 38200266
Cell Mol Life Sci · 2024
0.90
3
Dissecting key contributions of T
PMID: 40409379
J Allergy Clin Immunol · 2025
0.80
4
The manganese transporter SLC39A8 links alkaline ceramidase 1 to inflammatory bowel disease.
PMID: 38839750
Nat Commun · 2024
0.70
5
Alkaline ceramidase family: The first two decades.
PMID: 33271224
Cell Signal · 2021
0.60