RAI1

Chr 17p11.2

retinoic acid induced 1

Aliases:: DKFZP434A139, SMS, KIAA1820, MGC12824
MANE:: ENST00000353383.6

OMIM: 607642 ↗NCBI: 10743 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RAI1 · Q7Z5J4

v62025-08-01

Predicted Aligned Error matrix for RAI1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

39.5/ 100

Very low

1,906 residues

Confidence breakdown

Very high(≥ 90)5%
Confident(70–90)3%
Low(50–70)3%
Very low(< 50)89%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Smith-Magenis syndrome
0.78
hereditary disease
0.55
Intellectual disability
0.52
rai1-related disorder
0.52
coffee consumption
0.37
combined immunodeficiency due to ORAI1 deficiency
0.37
developmental disability
0.34
type 2 diabetes mellitus
0.34
skin neoplasm
0.30
Eczematoid dermatitis
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Retinoic acid-induced protein 1

Transcriptional regulator of the circadian clock components: CLOCK, BMAL1, 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