Seroatlas · Human Serome Atlas

ARSA

Arylsulfatase A

Also known as: ARSA_HUMAN, ASA

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

Protein identityUniProt · HPA

UniProt accession
P15289
Gene
ARSA
Ensembl
ENSG00000100299
Chromosome
22
Canonical length
507 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Golgi apparatus,Cytosol,Mid piece
Secretome location
Intracellular and membrane
Quaternary structure
Homooctamer

OverviewNCBI Gene

The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]

Canonical amino-acid sequenceUniProt

507 residues, UniProt reviewed canonical sequence.

>P15289|ARSA
     1  MGAPRSLLLA LAAGLAVARP PNIVLIFADD LGYGDLGCYG HPSSTTPNLD QLAAGGLRFT
    61  DFYVPVSLCT PSRAALLTGR LPVRMGMYPG VLVPSSRGGL PLEEVTVAEV LAARGYLTGM
   121  AGKWHLGVGP EGAFLPPHQG FHRFLGIPYS HDQGPCQNLT CFPPATPCDG GCDQGLVPIP
   181  LLANLSVEAQ PPWLPGLEAR YMAFAHDLMA DAQRQDRPFF LYYASHHTHY PQFSGQSFAE
   241  RSGRGPFGDS LMELDAAVGT LMTAIGDLGL LEETLVIFTA DNGPETMRMS RGGCSGLLRC
   301  GKGTTYEGGV REPALAFWPG HIAPGVTHEL ASSLDLLPTL AALAGAPLPN VTLDGFDLSP
   361  LLLGTGKSPR QSLFFYPSYP DEVRGVFAVR TGKYKAHFFT QGSAHSDTTA DPACHASSSL
   421  TAHEPPLLYD LSKDPGENYN LLGGVAGATP EVLQALKQLQ LLKAQLDAAV TFGPSQVARG
   481  EDPALQICCH PGCTPRPACC HCPDPHA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ARSA 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.22
Highest tissue expression
52 nTPM

Expression across tissuesHPA

Tissue

  • testis: 52 nTPM
  • pancreas: 44 nTPM
  • spleen: 44 nTPM
  • liver: 42 nTPM
  • choroid plexus: 38 nTPM
  • salivary gland: 38 nTPM

Single-cell type

  • late spermatids: 216 nCPM
  • fallopian tube ciliated cells: 103 nCPM
  • enterocytes: 90 nCPM
  • breast lactating cells: 85 nCPM
  • plasma cells: 85 nCPM
  • late primary spermatocytes: 85 nCPM

Immune cell

  • neutrophil: 61 nTPM
  • non-classical monocyte: 43 nTPM
  • eosinophil: 36 nTPM
  • intermediate monocyte: 33 nTPM
  • plasmacytoid DC: 32 nTPM
  • classical monocyte: 28 nTPM

Brain region

  • choroid plexus: 51 nTPM
  • white matter: 36 nTPM
  • medulla oblongata: 36 nTPM
  • thalamus: 35 nTPM
  • cerebral cortex: 31 nTPM
  • pons: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ARSA.

Disease | AllUniProt

Conditions ARSA is implicated in, by any mechanism.

Disease | GeneticClinVar

384 pathogenic / likely-pathogenic of 1,345 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Metachromatic leukodystrophy
  • ARSA-related disorder
  • METACHROMATIC LEUKODYSTROPHY, SEVERE
  • Metachromatic leukodystrophy, adult type
  • Metachromatic leukodystrophy, juvenile type

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)
1.34
gnomAD pLI
0
gnomAD missense Z
0.38
DepMap mean gene effect
-0.05
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

InteractionsUniProt · HPA

Protein binding partners of ARSA in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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