Seroatlas · Human Serome Atlas

ASCL1

Achaete-scute homolog 1

Also known as: ASCL1_HUMAN, ASH1, bHLHa46, HASH1

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

Protein identityUniProt · HPA

UniProt accession
P50553
Gene
ASCL1
Ensembl
ENSG00000139352
Chromosome
12
Canonical length
236 aa
Protein class
Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

236 residues, UniProt reviewed canonical sequence.

>P50553|ASCL1
     1  MESSAKMESG GAGQQPQPQP QQPFLPPAAC FFATAAAAAA AAAAAAAQSA QQQQQQQQQQ
    61  QQAPQLRPAA DGQPSGGGHK SAPKQVKRQR SSSPELMRCK RRLNFSGFGY SLPQQQPAAV
   121  ARRNERERNR VKLVNLGFAT LREHVPNGAA NKKMSKVETL RSAVEYIRAL QQLLDEHDAV
   181  SAAFQAGVLS PTISPNYSND LNSMAGSPVS SYSSDEGSYD PLSPEEQELL DFTNWF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASCL1 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)
0.61
Highest tissue expression
28 nTPM

Expression across tissuesHPA

Tissue

  • pituitary gland: 28 nTPM
  • amygdala: 16 nTPM
  • hippocampal formation: 12 nTPM
  • cerebral cortex: 12 nTPM
  • midbrain: 11 nTPM
  • liver: 10 nTPM

Single-cell type

  • corticotrophs: 260 nCPM
  • oligodendrocyte progenitor cells: 86 nCPM
  • medullary thymic epithelial cells: 65 nCPM
  • neuroendocrine cells: 48 nCPM
  • pancreatic islet cells: 25 nCPM
  • bergmann glia: 23 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • medulla oblongata: 16 nTPM
  • spinal cord: 15 nTPM
  • cerebral cortex: 14 nTPM
  • white matter: 14 nTPM
  • cerebellum: 13 nTPM
  • amygdala: 12 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)
0.6
gnomAD pLI
0.68
gnomAD missense Z
1.58
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% 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 ASCL1 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 ASCL1 as an antibody target. Whether an autoantibody or antibody against ASCL1 could matter depends on whether native ASCL1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASCL1 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 ASCL1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ASCL1. 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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