Seroatlas · Human Serome Atlas

AAAS

Aladin

Also known as: AAAS_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9NRG9
Gene
AAAS
Ensembl
ENSG00000094914
Chromosome
12
Canonical length
546 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Nucleoplasm,Nuclear membrane,Centrosome,Cytosol,End piece

OverviewNCBI Gene

The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

546 residues, UniProt reviewed canonical sequence.

>Q9NRG9|AAAS
     1  MCSLGLFPPP PPRGQVTLYE HNNELVTGSS YESPPPDFRG QWINLPVLQL TKDPLKTPGR
    61  LDHGTRTAFI HHREQVWKRC INIWRDVGLF GVLNEIANSE EEVFEWVKTA SGWALALCRW
   121  ASSLHGSLFP HLSLRSEDLI AEFAQVTNWS SCCLRVFAWH PHTNKFAVAL LDDSVRVYNA
   181  SSTIVPSLKH RLQRNVASLA WKPLSASVLA VACQSCILIW TLDPTSLSTR PSSGCAQVLS
   241  HPGHTPVTSL AWAPSGGRLL SASPVDAAIR VWDVSTETCV PLPWFRGGGV TNLLWSPDGS
   301  KILATTPSAV FRVWEAQMWT CERWPTLSGR CQTGCWSPDG SRLLFTVLGE PLIYSLSFPE
   361  RCGEGKGCVG GAKSATIVAD LSETTIQTPD GEERLGGEAH SMVWDPSGER LAVLMKGKPR
   421  VQDGKPVILL FRTRNSPVFE LLPCGIIQGE PGAQPQLITF HPSFNKGALL SVGWSTGRIA
   481  HIPLYFVNAQ FPRFSPVLGR AQEPPAGGGG SIHDLPLFTE TSPTSAPWDP LPGPPPVLPH
   541  SPHSHL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AAAS 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)
0.32
Highest tissue expression
24 nTPM

Expression across tissuesHPA

Tissue

  • thymus: 24 nTPM
  • adrenal gland: 23 nTPM
  • spleen: 22 nTPM
  • skeletal muscle: 21 nTPM
  • ovary: 20 nTPM
  • testis: 20 nTPM

Single-cell type

  • oocytes: 101 nCPM
  • cytotrophoblasts: 70 nCPM
  • extravillous trophoblasts: 61 nCPM
  • migrating cytotrophoblasts: 57 nCPM
  • differentiating spermatogonia: 44 nCPM
  • erythrocyte progenitors: 43 nCPM

Immune cell

  • non-classical monocyte: 23 nTPM
  • plasmacytoid DC: 23 nTPM
  • naive B-cell: 22 nTPM
  • naive CD4 T-cell: 22 nTPM
  • naive CD8 T-cell: 22 nTPM
  • MAIT T-cell: 21 nTPM

Brain region

  • white matter: 19 nTPM
  • cerebral cortex: 16 nTPM
  • cerebellum: 15 nTPM
  • choroid plexus: 15 nTPM
  • basal ganglia: 15 nTPM
  • pons: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AAAS.

Disease | AllUniProt

Conditions AAAS is implicated in, by any mechanism.

  • Achalasia-addisonianism-alacrima syndrome (AAAS) MIM:231550

Disease | GeneticClinVar

104 pathogenic / likely-pathogenic of 567 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)
0.99
gnomAD pLI
0
gnomAD missense Z
-0.36
DepMap mean gene effect
-0.12
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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