retinoic acid-induced protein 1 (RAI1, KIAA1820)

Function

• transcriptional regulator
• regulates transcription through chromatin remodeling by interacting with other proteins in chromatin & with general transcriptional factors
• role in embryonic & postnatal development
• role in neuronal differentiation

Structure

• contains 1 PHD-type zinc finger

Compartment

• cytoplasm, nucleus,
• in neurons, localized to neurites

Alternative splicing

named isoforms=4

Expression

• expressed in all tissues
• higher expression in heart & brain
• no expression in corpus callosum

Pathology

• size of the poly-Gln region may influence the age at onset of spinocerebellar ataxia type 2
• defects in RAI1 are a cause of Smith-Magenis syndrome

Polymorphism

• poly-Gln tract is polymorphic, number varies from 12-14

More general terms

• zinc finger protein
• transcription factor (TF)
• retinoic acid-induced protein (RAI)

Database

• OMIM: https://mirror.omim.org/entry/182290
• OMIM: https://mirror.omim.org/entry/607642
• UniProt: http://www.uniprot.org/uniprot/Q7Z5J4.html