TSPOAP1
Domain
The SH3 and proline-rich domain is required for the interaction with TSPO and the second SH3 domain mediates binding to a proline-rich motif in RIMS1 and RIMS2.
Function
Required for synaptic transmission regulation (PubMed:33539324). It probably controls the recruitement of voltage-gated calcium channels to the presynaptic membrane, and modulates neurotransmitter release.
Involvement in disease
Dystonia 22, adult-onset
DYT22AO
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22AO is an autosomal recessive form characterized by focal dystonia or tremor and mild cognitive impairment.
None
The disease may be caused by variants affecting the gene represented in this entry.
Dystonia 22, juvenile-onset
DYT22JO
A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT22JO is an autosomal recessive form characterized by progressive, generalized dystonia associated with intellectual disability, cognitive decline, and cerebellar atrophy.
None
The disease may be caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the RIMBP family.
Tissue Specificity
Predominantly expressed in brain, pituitary gland and thymus in adults. In adult brain, highest expression found in temporal lobe and the putamen, followed by amygdala, caudate nucleus, cerebral cortex, occipital and frontal lobe. A high expression level is also observed in fetal tissues like brain, heart, kidney and thymus.
Cellular localization
- Cytoplasm
- Mitochondrion
- Preferentially expressed in the mitochondria in the presence of TSPO.
Alternative names
BZRAP1, KIAA0612, RBP1, RIMBP1, TSPOAP1, Peripheral-type benzodiazepine receptor-associated protein 1, PRAX-1, Peripheral benzodiazepine receptor-interacting protein, RIMS-binding protein 1, TSPO-associated protein 1, PBR-IP, RIM-BP1