uveal autoantigen with coiled-coil domains & ankyrin repeats protein (UACA, KIAA1561)

Function

• regulates APAF1 expression
• stress-induced apoptosis
  • apoptosome up-regulation
  • LGALS3/galectin-3 down-regulation
  • NF-kappaB inactivation
• regulates redistribution of APAF1 into nucleus after proapoptotic stress
• down-regulates the expression of LGALS3 by inhibiting NFKB1
• modulates iso-actin dynamics to regulate the morphological alterations required for cell growth and motility
• interaction with ARF6 may modulate cell shape & motility after injury
• component of the apoptosome complex
• interacts with LGALS3, ARF6, ACTB

Structure

contains 6 ANK repeats

Compartment

nucleus, cytoplasm

Expression

• expressed in skeletal muscle, heart, kidney, pancreas > choroid, retina, epidermal melanocytes, eye muscles, thyroid follicular cells
• up-regulated after TSH stimulation

Pathology

• UACA is a possible target autoantigen in disorders that cause different types of pan-uveitis
  • Vogt-Koyanagi-Harada syndrome (VKH)
  • Behcet disease (BD)
  • sarcoidosis

More general terms

• ankyrin repeat domain protein (ANKRD)
• phosphoprotein
• nuclear protein

Additional terms

• uveitis

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=55075
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:55075
• OMIM: https://mirror.omim.org/entry/612516
• UniProt: http://www.uniprot.org/uniprot/Q9BZF9.html