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

Function: 1) regulates APAF1 expression 2) stress-induced apoptosis a) apoptosome up-regulation b) LGALS3/galectin-3 down-regulation c) NF-kappaB inactivation 3) regulates redistribution of APAF1 into nucleus after proapoptotic stress 4) down-regulates the expression of LGALS3 by inhibiting NFKB1 5) modulates iso-actin dynamics to regulate the morphological alterations required for cell growth and motility 6) interaction with ARF6 may modulate cell shape & motility after injury 7) component of the apoptosome complex 8) 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 a) Vogt-Koyanagi-Harada syndrome (VKH) b) Behcet disease (BD) c) sarcoidosis

General

ankyrin repeat domain protein (ANKRD) nuclear protein phosphoprotein

Properties

SIZE: MW = 163 kD entity length = 1416 aa COMPARTMENT: cytoplasm MOTIF: alanine-rich region {21-29} MOTIF: alanine residue (SEVERAL) ankyrin repeat NAME: ankyrin repeat SITE: 38-66 ankyrin repeat NAME: ankyrin repeat SITE: 67-96 ankyrin repeat NAME: ankyrin repeat SITE: 100-129 ankyrin repeat NAME: ankyrin repeat SITE: 133-162 ankyrin repeat NAME: ankyrin repeat SITE: 166-195 ankyrin repeat NAME: ankyrin repeat SITE: 199-228 coiled coil {286-374} coiled coil {438-1386} MOTIF: Thr phosphorylation site {T1065}

Database Correlations

OMIM 612516 UniProt Q9BZF9 Pfam PF12796 Entrez Gene 55075 Kegg hsa:55075

References

UniProt :accession Q9BZF9