GFRA1

Chr 10q25.3

GDNF family receptor alpha 1

Aliases:: RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1
MANE:: ENST00000355422.11

OMIM: 601496 ↗NCBI: 2674 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GFRA1 · P56159

v62025-08-01

Predicted Aligned Error matrix for GFRA1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.1/ 100

Confident

465 residues

Confidence breakdown

Very high(≥ 90)47%
Confident(70–90)19%
Low(50–70)10%
Very low(< 50)25%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Familial Hirschsprung Disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric pseudo-obstruction syndrome
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

renal hypodysplasia/aplasia 4
0.47
renal agenesis
0.38
bilateral renal agenesis
0.37
smoking initiation
0.35
bone Paget disease
0.31
bile duct disorder
0.28
contracture
0.28
stroke disorder
0.27
alcohol drinking
0.26
ulcerative colitis
0.26

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

Protein function (UniProt)

GDNF family receptor alpha-1

Coreceptor for GDNF, a neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake (PubMed:10829012, PubMed:31535977). GDNF-binding leads to autophosphorylation and activation of the RET receptor (PubMed:31535977)