ACER3
Alkaline ceramidase 3
Also known as: ACER3_HUMAN, APHC, FLJ11238, PHCA
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9NUN7
- Gene
- ACER3
- Ensembl
- ENSG00000078124
- Chromosome
- 11
- Canonical length
- 267 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins
OverviewNCBI Gene
Enables N-acylsphingosine amidohydrolase activity; calcium ion binding activity; and zinc ion binding activity. Involved in several processes, including myelination; positive regulation of cell population proliferation; and sphingolipid metabolic process. Located in Golgi membrane and endoplasmic reticulum membrane. Biomarker of hepatocellular carcinoma and metabolic dysfunction-associated steatohepatitis. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
267 residues, UniProt reviewed canonical sequence.
>Q9NUN7|ACER3
1 MAPAADREGY WGPTTSTLDW CEENYSVTWY IAEFWNTVSN LIMIIPPMFG AVQSVRDGLE
61 KRYIASYLAL TVVGMGSWCF HMTLKYEMQL LDELPMIYSC CIFVYCMFEC FKIKNSVNYH
121 LLFTLVLFSL IVTTVYLKVK EPIFHQVMYG MLVFTLVLRS IYIVTWVYPW LRGLGYTSLG
181 IFLLGFLFWN IDNIFCESLR NFRKKVPPII GITTQFHAWW HILTGLGSYL HILFSLYTRT
241 LYLRYRPKVK FLFGIWPVIL FEPLRKHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ACER3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 7
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 13 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 13 nTPM
- adipose tissue: 10 nTPM
- midbrain: 9 nTPM
- hippocampal formation: 8 nTPM
- cerebral cortex: 6.9 nTPM
- lung: 6.3 nTPM
Single-cell type
- mast cells: 568 nCPM
- oligodendrocytes: 401 nCPM
- neutrophils: 361 nCPM
- neutrophil progenitors: 337 nCPM
- adipocytes: 304 nCPM
- esophageal apical cells: 278 nCPM
Immune cell
- myeloid DC: 4.5 nTPM
- classical monocyte: 4.3 nTPM
- intermediate monocyte: 3 nTPM
- eosinophil: 2.5 nTPM
- non-classical monocyte: 2.4 nTPM
- total PBMC: 1.6 nTPM
Brain region
- white matter: 20 nTPM
- pons: 15 nTPM
- medulla oblongata: 14 nTPM
- hypothalamus: 14 nTPM
- cerebellum: 14 nTPM
- spinal cord: 13 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ACER3.
Disease | AllUniProt
Conditions ACER3 is implicated in, by any mechanism.
- Leukodystrophy, progressive, early childhood-onset (PLDECO) MIM:617762
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 126 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Alkaline ceramidase 3 deficiency
- ACER3-related disorder
- Familial cancer of breast
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.39
- gnomAD pLI
- 0.87
- gnomAD missense Z
- 1.8
- DepMap mean gene effect
- 0.06
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- ceramide catabolic process
- inflammatory response
- myelination
- positive regulation of cell population proliferation
- regulation of programmed cell death
- sphingosine biosynthetic process
- phytosphingosine biosynthetic process
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ACER3 as an antibody target. Whether an autoantibody or antibody against ACER3 could matter depends on whether native ACER3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ACER3 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ACER3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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