Seroatlas · Human Serome Atlas

ACER1

Alkaline ceramidase 1

Also known as: ACER1_HUMAN, ASAH3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q8TDN7
Gene
ACER1
Ensembl
ENSG00000167769
Chromosome
19
Canonical length
264 aa
Protein class
Enzymes, Metabolic proteins, Predicted membrane proteins

OverviewNCBI Gene

Ceramides are synthesized during epidermal differentiation and accumulate within the interstices of the stratum corneum, where they represent critical components of the epidermal permeability barrier. Excess cellular ceramide can trigger antimitogenic signals and induce apoptosis, and the ceramide metabolites sphingosine and sphingosine-1-phosphate (S1P) are important bioregulatory molecules. Ceramide hydrolysis in the nucleated cell layers regulates keratinocyte proliferation and apoptosis in response to external stress. Ceramide hydrolysis also occurs at the stratum corneum, releasing free sphingoid base that functions as an endogenous antimicrobial agent. ACER1 is highly expressed in epidermis and catalyzes the hydrolysis of very long chain ceramides to generate sphingosine (Houben et al., 2006 [PubMed 16477081]; Sun et al., 2008 [PubMed 17713573]).[supplied by OMIM, Jul 2010]

Canonical amino-acid sequenceUniProt

264 residues, UniProt reviewed canonical sequence.

>Q8TDN7|ACER1
     1  MPSIFAYQSS EVDWCESNFQ YSELVAEFYN TFSNIPFFIF GPLMMLLMHP YAQKRSRYIY
    61  VVWVLFMIIG LFSMYFHMTL SFLGQLLDEI AILWLLGSGY SIWMPRCYFP SFLGGNRSQF
   121  IRLVFITTVV STLLSFLRPT VNAYALNSIA LHILYIVCQE YRKTSNKELR HLIEVSVVLW
   181  AVALTSWISD RLLCSFWQRI HFFYLHSIWH VLISITFPYG MVTMALVDAN YEMPGETLKV
   241  RYWPRDSWPV GLPYVEIRGD DKDC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ACER1 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
86 nTPM

Expression across tissuesHPA

Tissue

  • skin: 86 nTPM
  • esophagus: 12 nTPM
  • vagina: 5 nTPM
  • cervix: 3.8 nTPM
  • breast: 3.1 nTPM
  • salivary gland: 2.8 nTPM

Single-cell type

  • esophageal apical cells: 76 nCPM
  • thymocytes: 31 nCPM
  • early primary spermatocytes: 17 nCPM
  • suprabasal keratinocytes: 15 nCPM
  • t-cells: 9.4 nCPM
  • choroid plexus epithelial cells: 8.1 nCPM

Immune cell

  • MAIT T-cell: 1.2 nTPM
  • memory CD4 T-cell: 1.2 nTPM
  • T-reg: 0.8 nTPM
  • naive CD4 T-cell: 0.7 nTPM
  • naive CD8 T-cell: 0.7 nTPM
  • memory CD8 T-cell: 0.5 nTPM

Brain region

  • cerebellum: 1.2 nTPM
  • choroid plexus: 1 nTPM
  • cerebral cortex: 0.9 nTPM
  • white matter: 0.9 nTPM
  • amygdala: 0.8 nTPM
  • thalamus: 0.8 nTPM

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)
1
gnomAD pLI
0
gnomAD missense Z
0.45
DepMap mean gene effect
-0.09
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ACER1 as an antibody target. Whether an autoantibody or antibody against ACER1 could matter depends on whether native ACER1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ACER1 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 ACER1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ACER1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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