HIRA protein (TUP1-like enhancer of split protein 1, HIRA, DGCR1, HIR, TUPLE1)

Function

• role in mechanisms of transcriptional regulation similar to that played by yeast HIR1 & HIR2 together
• interacts with HIRIP3, NFU1/HIRIP5, histones H2B & H4, & PAX3
• sumoylated

Structure

• belongs to the WD repeat HIR1 family.
• contains 4 WD repeats

Compartment

nucleus

Alternative splicing

named isoforms=2

Expression

• widely distributed
• expressed during embryogenesis

Pathology

• role in etiology of DiGeorge syndrome

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/600237
• UniProt: http://www.uniprot.org/uniprot/P54198.html