RHBDF1

Chr 16p13.3

rhomboid 5 homolog 1

Aliases:: EGFR-RS, FLJ2235, Dist1, iRhom1
MANE:: ENST00000262316.10

OMIM: 614403 ↗NCBI: 64285 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

RHBDF1 · Q96CC6

v62025-08-01

Predicted Aligned Error matrix for RHBDF1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

68.4/ 100

Low

855 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)25%
Low(50–70)5%
Very low(< 50)35%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Dilated and arrhythmogenic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.41
Wolff-Parkinson-White syndrome
0.19
dilated cardiomyopathy
0.18
breast cancer
0.10
breast carcinoma
0.10
neoplasm
0.09
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
0.09
Hereditary persistence of fetal hemoglobin - beta-thalassemia
0.09
genetic developmental and epileptic encephalopathy
0.08
familial pancreatic carcinoma
0.08

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

Protein function (UniProt)

Inactive rhomboid protein 1

Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation (PubMed:15965977, PubMed:18524845, PubMed:18832597, PubMed:21439629). Does not exhibit any protease activity on its own (PubMed:21439629). Regulator of proteosomal assembly by promoting formation of the proteosome assembly chaperone PSMG1-PSMG2 heterodimer, positively regulating proteosome activity (PubMed:26109405)