Seroatlas · Human Serome Atlas

ASAH1

Acid ceramidase

Also known as: AC, ACDase, ASAH, ASAH1_HUMAN, FLJ21558, PHP32

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

Protein identityUniProt · HPA

UniProt accession
Q13510
Gene
ASAH1
Ensembl
ENSG00000104763
Chromosome
8
Canonical length
395 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Secretome location
Intracellular and membrane

OverviewNCBI Gene

This gene encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]

Canonical amino-acid sequenceUniProt

395 residues, UniProt reviewed canonical sequence.

>Q13510|ASAH1
     1  MPGRSCVALV LLAAAVSCAV AQHAPPWTED CRKSTYPPSG PTYRGAVPWY TINLDLPPYK
    61  RWHELMLDKA PVLKVIVNSL KNMINTFVPS GKIMQVVDEK LPGLLGNFPG PFEEEMKGIA
   121  AVTDIPLGEI ISFNIFYELF TICTSIVAED KKGHLIHGRN MDFGVFLGWN INNDTWVITE
   181  QLKPLTVNLD FQRNNKTVFK ASSFAGYVGM LTGFKPGLFS LTLNERFSIN GGYLGILEWI
   241  LGKKDVMWIG FLTRTVLENS TSYEEAKNLL TKTKILAPAY FILGGNQSGE GCVITRDRKE
   301  SLDVYELDAK QGRWYVVQTN YDRWKHPFFL DDRRTPAKMC LNRTSQENIS FETMYDVLST
   361  KPVLNKLTVY TTLIDVTKGQ FETYLRDCPD PCIGW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASAH1 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
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.22
Highest tissue expression
537 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 537 nTPM
  • thyroid gland: 305 nTPM
  • adipose tissue: 201 nTPM
  • kidney: 190 nTPM
  • lung: 179 nTPM
  • epididymis: 124 nTPM

Single-cell type

  • neutrophils: 1,697 nCPM
  • hofbauer cells: 1,316 nCPM
  • platelets: 1,184 nCPM
  • esophageal apical cells: 931 nCPM
  • kupffer cells: 894 nCPM
  • monocytes: 660 nCPM

Immune cell

  • non-classical monocyte: 735 nTPM
  • intermediate monocyte: 678 nTPM
  • neutrophil: 631 nTPM
  • classical monocyte: 456 nTPM
  • total PBMC: 408 nTPM
  • eosinophil: 320 nTPM

Brain region

  • white matter: 156 nTPM
  • medulla oblongata: 84 nTPM
  • hypothalamus: 80 nTPM
  • spinal cord: 79 nTPM
  • choroid plexus: 71 nTPM
  • cerebellum: 70 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ASAH1.

Disease | AllUniProt

Conditions ASAH1 is implicated in, by any mechanism.

  • Farber lipogranulomatosis (FRBRL) MIM:228000
  • Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) MIM:159950

Disease | GeneticClinVar

127 pathogenic / likely-pathogenic of 1,032 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.18
gnomAD pLI
0
gnomAD missense Z
-2.21
DepMap mean gene effect
0.09
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 ASAH1 as an antibody target. Whether an autoantibody or antibody against ASAH1 could matter depends on whether native ASAH1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASAH1 is annotated as secreted, so native ASAH1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label ASAH1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ASAH1. 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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