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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TSPOAP1
TSPO associated protein 1
Chromosome 17 Β· 17q22
NCBI Gene: 9256Ensembl: ENSG00000005379.17HGNC: HGNC:16831UniProt: A7E2C5
22PubMed Papers
22Diseases
0Drugs
5Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrionprotein bindingbenzodiazepine receptor bindingcytoplasmdystonia 22, juvenile-onsetBardet-Biedl syndromeAutosomal recessive dopa-responsive dystoniaTH-deficient dopa-responsive dystonia
✦AI Summary

TSPOAP1 (TSPO associated protein 1) encodes RIMBP1 (RIM-binding protein 1), a presynaptic active-zone protein essential for neurotransmitter release regulation 1. The protein controls voltage-gated calcium channel recruitment to presynaptic membranes and modulates synaptic transmission, with balanced neurotransmission being critical for proper motor control 1. TSPOAP1 functions as a cytoplasmic protein closely associated with the mitochondrial transmembrane protein TSPO, participating in necroptosis and sirtuin signaling pathways, mitochondrial dysfunction, and inflammasome activation 2. Bioinformatic analyses suggest TSPOAP1 plays roles in inflammation and neuroinflammation through interactions with proteins like TNFR1, VCAM1, and NLRP3 2. Clinically, biallelic variants in TSPOAP1 cause autosomal recessive dystonia, with loss-of-function mutations leading to juvenile-onset generalized dystonia with intellectual disability and cerebellar atrophy, while missense variants cause adult-onset focal dystonia 1. The gene shows genetic associations with multiple neurodegenerative disorders including Alzheimer's disease and ALS, supporting neuroinflammation as a transdiagnostic mechanism 3. TSPOAP1 expression levels also serve as potential biomarkers for disease progression in spinocerebellar ataxia type 3 4.

Sources cited
1
TSPOAP1 encodes RIMBP1, regulates neurotransmitter release, and causes dystonia when mutated
PMID: 33539324
2
TSPOAP1 is associated with TSPO and participates in necroptosis, sirtuin signaling, and neuroinflammation pathways
PMID: 34212002
3
TSPOAP1 is genetically associated with multiple neurodegenerative disorders including Alzheimer's disease and ALS
PMID: 37328865
4
TSPOAP1 expression levels correlate with ataxia severity in spinocerebellar ataxia type 3
PMID: 37071051
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
dystonia 22, juvenile-onsetOpen Targets
0.45Moderate
Bardet-Biedl syndromeOpen Targets
0.37Weak
Autosomal recessive dopa-responsive dystoniaOpen Targets
0.37Weak
TH-deficient dopa-responsive dystoniaOpen Targets
0.37Weak
dystonia 22, adult-onsetOpen Targets
0.36Weak
Alzheimer diseaseOpen Targets
0.32Weak
late-onset Alzheimers diseaseOpen Targets
0.31Weak
pneumoconiosisOpen Targets
0.30Weak
response to statinOpen Targets
0.14Weak
Cerebellar atrophyOpen Targets
0.12Weak
Intellectual disabilityOpen Targets
0.12Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
metabolic diseaseOpen Targets
0.10Weak
Disorder of lipid metabolismOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
rheumatoid arthritisOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
familial hypercholesterolemiaOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
Dystonia 22, adult-onsetUniProt
Dystonia 22, juvenile-onsetUniProt
Pathogenic Variants5
NM_004758.4(TSPOAP1):c.2277del (p.Ser759fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 759
NM_004758.4(TSPOAP1):c.3172dup (p.Arg1058fs)Likely pathogenic
Dystonia 22, juvenile-onset
β˜…β˜†β˜†β˜†β†’ Residue 1058
NM_004758.4(TSPOAP1):c.1567C>T (p.Gln523Ter)Pathogenic
Bardet-Biedl syndrome
β˜…β˜†β˜†β˜†β†’ Residue 523
NM_004758.4(TSPOAP1):c.538del (p.Ala180fs)Pathogenic
Dystonia 22, juvenile-onset
β˜†β˜†β˜†β˜†2023β†’ Residue 180
NM_004758.4(TSPOAP1):c.2449_2450inv (p.Gln817Ter)Pathogenic
Dystonia 22, juvenile-onset
β˜†β˜†β˜†β˜†2023β†’ Residue 817
View on ClinVar β†—
Related Genes
RIMS1Protein interaction100%RIMS2Protein interaction99%TSPOProtein interaction99%UNC13BProtein interaction93%RAB3AProtein interaction84%RAB3CProtein interaction81%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
33%
Heart
8%
Brain
8%
Liver
7%
Lung
6%
Gene Interaction Network
Click a node to explore
TSPOAP1RIMS1RIMS2TSPOUNC13BRAB3ARAB3C
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O95153
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.57Moderately Constrained
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.48 [0.40–0.57]
RankingsWhere TSPOAP1 stands among ~20K protein-coding genes
  • #13,788of 20,598
    Most Researched22
  • #3,633of 5,498
    Most Pathogenic Variants5
  • #3,784of 17,882
    Most Constrained (LOEUF)0.57 Β· top quartile
Genes detectedTSPOAP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3.
PMID: 37071051
Brain Β· 2023
1.00
2
Bioinformatic Analyses of Canonical Pathways of TSPOAP1 and its Roles in Human Diseases.
PMID: 34212002
Front Mol Biosci Β· 2021
0.90
3
Shared genetic risk loci between Alzheimer's disease and related dementias, Parkinson's disease, and amyotrophic lateral sclerosis.
PMID: 37328865
Alzheimers Res Ther Β· 2023
0.80
4
LncRNA co-expression network analysis reveals novel biomarkers for pancreatic cancer.
PMID: 29796634
Carcinogenesis Β· 2018
0.70
5
Identifying the role of hypoxia-related lncRNAs in pancreatic cancer.
PMID: 37315872
Genomics Β· 2023
0.60