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retinoic acid-induced protein 1 (RAI1, KIAA1820)
Function:
1) transcriptional regulator
2) regulates transcription through chromatin remodeling by interacting with other proteins in chromatin & with general transcriptional factors
3) role in embryonic & postnatal development
4) 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
Polymorphism:
- poly-Gln tract is polymorphic, number varies from 12-14
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
General
retinoic acid-induced protein (RAI)
transcription factor (TF)
zinc finger protein
Properties
SIZE: MW = 203 kD
entity length = 1906 aa
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: proline-rich region
SITE: 124-135
MOTIF: proline residue (SEVERAL)
glutamine-rich region {156-336}
MOTIF: glutamine residue (SEVERAL)
glutamine-rich region {278-291}
MOTIF: glutamine residue (SEVERAL)
nuclear translocation signal {1160-1177}
nuclear translocation signal {1223-1240}
serine-rich region {1243-1249}
MOTIF: serine residue (SEVERAL)
glycine-rich region {1493-1496}
serine-rich region {1628-1641}
MOTIF: serine residue (SEVERAL)
alanine-rich region {1746-1751}
MOTIF: alanine residue (SEVERAL)
Zn finger PHD-type
NAME: Zn finger PHD-type
SITE: 1856-1903
EFFECTOR-BOUND: Zn+2
Database Correlations
OMIM correlations
MORBIDMAP 607642
UniProt Q7Z5J4
References
- UniProt :accession Q7Z5J4
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=RAI1