TSPOAP1

Chr 17q22

TSPO associated protein 1

Aliases:: PRAX-1, KIAA0612, RIM-BP1, RIMBP1
MANE:: ENST00000343736.9

OMIM: 610764 ↗NCBI: 9256 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TSPOAP1 · O95153

v62025-08-01

Predicted Aligned Error matrix for TSPOAP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

56.8/ 100

Low

1,857 residues

Confidence breakdown

Very high(≥ 90)18%
Confident(70–90)23%
Low(50–70)5%
Very low(< 50)54%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

dystonia 22, juvenile-onset
0.45
Bardet-Biedl syndrome
0.37
TH-deficient dopa-responsive dystonia
0.37
Autosomal recessive dopa-responsive dystonia
0.37
dystonia 22, adult-onset
0.36
Alzheimer disease
0.29
late-onset Alzheimers disease
0.27
pneumoconiosis
0.26
response to statin
0.15
metabolic disease
0.12

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

Protein function (UniProt)

Peripheral-type benzodiazepine receptor-associated protein 1

Required for synaptic transmission regulation (PubMed:33539324). It probably controls the recruitment of voltage-gated calcium channels to the presynaptic membrane, and modulates neurotransmitter release