OXR1

Chr 8q23.1

oxidation resistance 1

Aliases:: TLDC3
MANE:: ENST00000517566.7

OMIM: 605609 ↗NCBI: 55074 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

OXR1 · Q8N573

v62025-08-01

Predicted Aligned Error matrix for OXR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.7/ 100

Low

874 residues

Confidence breakdown

Very high(≥ 90)25%
Confident(70–90)14%
Low(50–70)12%
Very low(< 50)50%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

isolated cerebellar hypoplasia/agenesis
0.65
alcohol drinking
0.40
androgenetic alopecia
0.31
spinal cord injury
0.31
breast cancer
0.30
DNA methylation
0.30
inborn disorder of amino acid metabolism
0.30
Hearing impairment
0.26
stroke disorder
0.25
gastroparesis
0.25

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

Protein function (UniProt)

Orexin/Hypocretin receptor type 1

G protein-coupled receptor that binds the neuropeptide orexin-A with high affinity, and orexin-B with lower affinity, two peptides derived from a common precursor, prepro-orexin (PubMed:32669442, PubMed:9491897). Its activity is mediated via a G(q)-protein-coupled pathway, which activates the phosphatidylinositol-calcium second messenger system in response to orexin-A binding (PubMed:32669442). In addition to G(q)-mediated signaling, orexin-A stimulation also promotes beta-arrestin recruitment, leading to receptor internalization (PubMed:15683363, PubMed:32669442). Plays a significant role in the regulation of food intake (By similarity)