Seroatlas · Human Serome Atlas

ASCC1

Activating signal cointegrator 1 complex subunit 1

Also known as: ASC1p50, ASCC1_HUMAN, CGI-18, Em:AC022392.3, p50

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

Protein identityUniProt · HPA

UniProt accession
Q8N9N2
Gene
ASCC1
Ensembl
ENSG00000138303
Chromosome
10
Canonical length
400 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a subunit of the activating signal cointegrator 1 (ASC-1) complex. The ASC-1 complex is a transcriptional coactivator that plays an important role in gene transactivation by multiple transcription factors including activating protein 1 (AP-1), nuclear factor kappa-B (NF-kB) and serum response factor (SRF). The encoded protein contains an N-terminal KH-type RNA-binding motif which is required for AP-1 transactivation by the ASC-1 complex. Mutations in this gene are associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Canonical amino-acid sequenceUniProt

400 residues, UniProt reviewed canonical sequence.

>Q8N9N2|ASCC1
     1  MEVLRPQLIR IDGRNYRKNP VQEQTYQHEE DEEDFYQGSM ECADEPCDAY EVEQTPQGFR
    61  STLRAPSLLY NLIHLNTSND CGFQKITLDC QNIYTWKSRH IVGKRGDTRK KIEMETKTSI
   121  SIPKPGQDGE IVITGQHRNG VISARTRIDV LLDTFRRKQP FTHFLAFFLN EVEVQEGFLR
   181  FQEEVLAKCS MDHGVDSSIF QNPKKLHLTI GMLVLLSEEE IQQTCEMLQQ CKEEFINDIS
   241  GGKPLEVEMA GIEYMNDDPG MVDVLYAKVH MKDGSNRLQE LVDRVLERFQ ASGLIVKEWN
   301  SVKLHATVMN TLFRKDPNAE GRYNLYTAEG KYIFKERESF DGRNILKSFA LLPRLEYNDA
   361  ISAHCNLCLP GSSDSPASAS QVAGITGVSD AYSQSLPGKS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASCC1 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)
0.37
Highest tissue expression
25 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 25 nTPM
  • skeletal muscle: 22 nTPM
  • pancreas: 21 nTPM
  • thymus: 21 nTPM
  • liver: 20 nTPM
  • heart muscle: 20 nTPM

Single-cell type

  • cardiomyocytes: 657 nCPM
  • epicardial cells: 134 nCPM
  • retinal ganglion cells: 128 nCPM
  • pancreatic acinar cells: 124 nCPM
  • sertoli cells: 123 nCPM
  • bergmann glia: 120 nCPM

Immune cell

  • eosinophil: 36 nTPM
  • naive B-cell: 33 nTPM
  • memory B-cell: 31 nTPM
  • T-reg: 30 nTPM
  • plasmacytoid DC: 29 nTPM
  • naive CD4 T-cell: 27 nTPM

Brain region

  • white matter: 54 nTPM
  • medulla oblongata: 41 nTPM
  • basal ganglia: 40 nTPM
  • cerebellum: 40 nTPM
  • spinal cord: 38 nTPM
  • hypothalamus: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ASCC1.

Disease | AllUniProt

Conditions ASCC1 is implicated in, by any mechanism.

  • Barrett esophagus (BE) MIM:614266
  • Spinal muscular atrophy with congenital bone fractures 2 (SMABF2) MIM:616867

Disease | GeneticClinVar

30 pathogenic / likely-pathogenic of 246 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)
1.32
gnomAD pLI
0
gnomAD missense Z
0.84
DepMap mean gene effect
-0.06
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 ASCC1 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 ASCC1 as an antibody target. Whether an autoantibody or antibody against ASCC1 could matter depends on whether native ASCC1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASCC1 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 ASCC1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ASCC1. 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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