InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RAI1

Summary

InnateDB Protein

IDBP-33132.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RAI1

Protein Name

retinoic acid induced 1

Synonyms

SMCR; SMS;

Species

Homo sapiens

Ensembl Protein

ENSP00000323074

InnateDB Gene

IDBG-33130 (RAI1)

Protein Structure

UniProt Annotation

Function

Transcriptional regulator of the circadian clock components: CLOCK, ARNTL/BMAL1, ARNTL2/BMAL2, PER1/3, CRY1/2, NR1D1/2 and RORA/C. Positively regulates the transcriptional activity of CLOCK a core component of the circadian clock. Regulates transcription through chromatin remodeling by interacting with other proteins in chromatin as well as proteins in the basic transcriptional machinery. May be important for embryonic and postnatal development. May be involved in neuronal differentiation. {ECO:0000269PubMed:22578325}.

Subcellular Localization

Cytoplasm. Nucleus. Note=In neurons, localized to neurites. {ECO:0000250}.

Disease Associations

Smith-Magenis syndrome (SMS) [MIM:182290]: Characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies. {ECO:0000269PubMed:11404004, ECO:0000269PubMed:12652298}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in all tissues examined with higher expression in the heart and brain. No expression was seen in the corpus callosum of the brain. {ECO:0000269PubMed:12837267}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 28 experimentally validated interaction(s) in this database.

Experimentally validated
Total	28 [view]
Protein-Protein	26 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	2 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0035326	enhancer binding

Biological Process

GO:0001501	skeletal system development
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0032922	circadian regulation of gene expression
GO:0040015	negative regulation of multicellular organism growth
GO:0045893	positive regulation of transcription, DNA-templated