Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy

Gene Information

Names

HUGO name: AIRE

Alias(es):

  • APECED
  • PGA1
  • autoimmune regulator (APECED protein)

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Probable transcriptional regulator protein that binds to DNA as dimer and tetramer, but not as a monomer. Binds to G-doublets in an A/T-rich environment; the preferred motiv is a tandem repeat of ATTGGTTA combined with a TTATTA-box. May be involved in immune regulation.

Subunit:

Homodimer and homotetramer. Interacts with crebbp

Subcellular location:

Nuclear and cytoplasmic; associated with tubular structures and in discrete nuclear dots ressembling ND10 nuclear bodies. May shuttle between nucleus and cytoplasm.

Post-translational modification:

Phosphorylated. Phosphorylation could trigger oligomerization.

Alternative products:

At least 3 isoforms; 1/AIRE-1, 2/AIRE-2 and 3/AIRE-3; may be produced by alternative splicing.

Expression

Expression pattern for human

Tissue Expression (%) Clones
germ cell 100.00 1:20077