PMEPA1

Chr 20q13.31

prostate transmembrane protein, androgen induced 1

Aliases:: STAG1
MANE:: ENST00000341744.8

OMIM: 606564 ↗NCBI: 56937 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PMEPA1 · Q969W9

v62025-08-01

Predicted Aligned Error matrix for PMEPA1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

56.7/ 100

Low

287 residues

Confidence breakdown

Very high(≥ 90)7%
Confident(70–90)12%
Low(50–70)36%
Very low(< 50)45%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Thoracic aortic aneurysm or dissection (GMS)
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

neurodegenerative disease
0.46
Loeys-Dietz syndrome
0.37
thoracic aortic aneurysm
0.37
Tall stature
0.37
flatfoot
0.37
Dolichocephaly
0.37
generalized dystonia
0.28
fungal infectious disease
0.22
male reproductive organ cancer
0.21
pyogenic granuloma
0.21

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

Protein function (UniProt)

Protein TMEPAI

Functions as a negative regulator of TGF-beta signaling and thereby probably plays a role in cell proliferation, differentiation, apoptosis, motility, extracellular matrix production and immunosuppression. In the canonical TGF-beta pathway, ZFYVE9/SARA recruits the intracellular signal transducer and transcriptional modulators SMAD2 and SMAD3 to the TGF-beta receptor. Phosphorylated by the receptor, SMAD2 and SMAD3 then form a heteromeric complex with SMAD4 that translocates to the nucleus to regulate transcription. Through interaction with SMAD2 and SMAD3, LDLRAD4 may compete with ZFYVE9 and SMAD4 and prevent propagation of the intracellular signal (PubMed:20129061, PubMed:24627487). Also involved in down-regulation of the androgen receptor (AR), enhancing ubiquitination and proteasome-mediated degradation of AR, probably by recruiting NEDD4 (PubMed:18703514)