RREB1

Chr 6p24.3

ras responsive element binding protein 1

Aliases:: HNT
MANE:: ENST00000379938.7

OMIM: 602209 ↗NCBI: 6239 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

RREB1 · Q92766

v62025-08-01

Predicted Aligned Error matrix for RREB1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

47.4/ 100

Very low

1,687 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)23%
Low(50–70)8%
Very low(< 50)70%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
RASopathies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Monogenic short stature
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

gout
0.50
type 2 diabetes mellitus
0.50
diabetes mellitus
0.49
RASopathy
0.49
atrial fibrillation
0.47
osteoarthritis, knee
0.44
androgenetic alopecia
0.44
Sensorineural hearing impairment
0.42
Inguinal hernia
0.42
hearing loss disorder
0.42

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

Protein function (UniProt)

Ras-responsive element-binding protein 1

Transcription factor that binds specifically to the RAS-responsive elements (RRE) of gene promoters (PubMed:10390538, PubMed:15067362, PubMed:17550981, PubMed:8816445, PubMed:9305772). Represses the angiotensinogen gene (PubMed:15067362). Negatively regulates the transcriptional activity of AR (PubMed:17550981). Potentiates the transcriptional activity of NEUROD1 (PubMed:12482979). Promotes brown adipocyte differentiation (By similarity). May be involved in Ras/Raf-mediated cell differentiation by enhancing calcitonin expression (PubMed:8816445)