TSPOAP1
Peripheral-type benzodiazepine receptor-associated protein 1
Also known as: BZRAP1, KIAA0612, PRAX-1, RIM-BP1, RIMB1_HUMAN, RIMBP1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O95153
- Gene
- TSPOAP1
- Ensembl
- ENSG00000005379
- Chromosome
- 17
- Canonical length
- 1857 aa
- Protein class
- Plasma proteins, Predicted intracellular proteins, Transporters
OverviewNCBI Gene
Enables benzodiazepine receptor binding activity. Involved in regulation of neurotransmitter secretion. Located in mitochondrion. Implicated in dystonia 22, adult-onset and dystonia 22, juvenile-onset. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
1857 residues, UniProt reviewed canonical sequence.
>O95153|TSPOAP1
1 MEQLTTLPRP GDPGAMEPWA LPTWHSWTPG RGGEPSSAAP SIADTPPAAL QLQELRSEES
61 SKPKGDGSSR PVGGTDPEGA EACLPSLGQQ ASSSGPACQR PEDEEVEAFL KAKLNMSFGD
121 RPNLELLRAL GELRQRCAIL KEENQMLRKS SFPETEEKVR RLKRKNAELA VIAKRLEERA
181 RKLQETNLRV VSAPLPRPGT SLELCRKALA RQRARDLSET ASALLAKDKQ IAALQRECRE
241 LQARLTLVGK EGPQWLHVRD FDRLLRESQR EVLRLQRQIA LRNQRETLPL PPSWPPGPAL
301 QARAGAPAPG APGEATPQED ADNLPVILGE PEKEQRVQQL ESELSKKRKK CESLEQEARK
361 KQRRCEELEL QLRQAQNENA RLVEENSRLS GRATEKEQVE WENAELRGQL LGVTQERDSA
421 LRKSQGLQSK LESLEQVLKH MREVAQRRQQ LEVEHEQARL SLREKQEEVR RLQQAQAEAQ
481 REHEGAVQLL ESTLDSMQAR VRELEEQCRS QTEQFSLLAQ ELQAFRLHPG PLDLLTSALD
541 CGSLGDCPPP PCCCSIPQPC RGSGPKDLDL PPGSPGRCTP KSSEPAPATL TGVPRRTAKK
601 AESLSNSSHS ESIHNSPKSC PTPEVDTASE VEELEADSVS LLPAAPEGSR GGARIQVFLA
661 RYSYNPFEGP NENPEAELPL TAGEYIYIYG NMDEDGFFEG ELMDGRRGLV PSNFVERVSD
721 DDLLTSLPPE LADLSHSSGP ELSFLSVGGG GSSSGGQSSV GRSQPRPEEE DAGDELSLSP
781 SPEGLGEPPA VPYPRRLVVL KQLAHSVVLA WEPPPEQVEL HGFHICVNGE LRQALGPGAP
841 PKAVLENLDL WAGPLHISVQ ALTSRGSSDP LRCCLAVGAR AGVVPSQLRV HRLTATSAEI
901 TWVPGNSNLA HAIYLNGEEC PPASPSTYWA TFCHLRPGTP YQAQVEAQLP PQGPWEPGWE
961 RLEQRAATLQ FTTLPAGPPD APLDVQIEPG PSPGILIISW LPVTIDAAGT SNGVRVTGYA
1021 IYADGQKIME VASPTAGSVL VELSQLQLLQ VCREVVVRTM SPHGESADSI PAPITPALAP
1081 ASLPARVSCP SPHPSPEARA PLASASPGPG DPSSPLQHPA PLGTQEPPGA PPASPSREMA
1141 KGSHEDPPAP CSQEEAGAAV LGTSEERTAS TSTLGEKDPG PAAPSLAKQE AEWTAGEACP
1201 ASSSTQGARA QQAPNTEMCQ GGDPGSGLRP RAEKEDTAEL GVHLVNSLVD HGRNSDLSDI
1261 QEEEEEEEEE EEEELGSRTC SFQKQVAGNS IRENGAKSQP DPFCETDSDE EILEQILELP
1321 LQQFCSKKLF SIPEEEEEEE EDEEEEKSGA GCSSRDPGPP EPALLGLGCD SGQPRRPGQC
1381 PLSPESSRAG DCLEDMPGLV GGSSRRRGGG SPEKPPSRRR PPDPREHCSR LLSNNGPQAS
1441 GRLGPTRERG GLPVIEGPRT GLEASGRGRL GPSRRCSRGR ALEPGLASCL SPKCLEISIE
1501 YDSEDEQEAG SGGISITSSC YPGDGEAWGT ATVGRPRGPP KANSGPKPYP RLPAWEKGEP
1561 ERRGRSATGR AKEPLSRATE TGEARGQDGS GRRGPQKRGV RVLRPSTAEL VPARSPSETL
1621 AYQHLPVRIF VALFDYDPVS MSPNPDAGEE ELPFREGQIL KVFGDKDADG FYQGEGGGRT
1681 GYIPCNMVAE VAVDSPAGRQ QLLQRGYLSP DILLEGSGNG PFVYSTAHTT GPPPKPRRSK
1741 KAESEGPAQP CPGPPKLVPS ADLKAPHSMV AAFDYNPQES SPNMDVEAEL PFRAGDVITV
1801 FGGMDDDGFY YGELNGQRGL VPSNFLEGPG PEAGGLDREP RTPQAESQRT RRRRVQCLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TSPOAP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.56
- Highest tissue expression
- 149 nTPM
Expression across tissuesHPA
Tissue
- amygdala: 149 nTPM
- cerebral cortex: 136 nTPM
- hippocampal formation: 95 nTPM
- basal ganglia: 81 nTPM
- cerebellum: 60 nTPM
- hypothalamus: 50 nTPM
Single-cell type
- retinal horizontal cells: 152 nCPM
- astrocytes: 90 nCPM
- retinal ganglion cells: 85 nCPM
- bergmann glia: 60 nCPM
- brain inhibitory neurons: 59 nCPM
- brain excitatory neurons: 53 nCPM
Immune cell
- gdT-cell: 1.7 nTPM
- NK-cell: 0.9 nTPM
- MAIT T-cell: 0.7 nTPM
- memory CD8 T-cell: 0.4 nTPM
- naive CD8 T-cell: 0.4 nTPM
- total PBMC: 0.3 nTPM
Brain region
- cerebral cortex: 96 nTPM
- amygdala: 95 nTPM
- hippocampal formation: 90 nTPM
- basal ganglia: 74 nTPM
- thalamus: 66 nTPM
- white matter: 54 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TSPOAP1.
Disease | AllUniProt
Conditions TSPOAP1 is implicated in, by any mechanism.
- Dystonia 22, adult-onset (DYT22AO) MIM:620456
- Dystonia 22, juvenile-onset (DYT22JO) MIM:620453
Disease | GeneticClinVar
7 pathogenic / likely-pathogenic of 98 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Dystonia 22, juvenile-onset
- Dystonia 22, adult-onset
- Bardet-Biedl syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.36
- gnomAD pLI
- 0.01
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
- benzodiazepine receptor binding
- voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- Fibronectin type III
- Immunoglobulin-like fold
- RIMS-binding protein, second SH3 domain
- RIMS-binding protein, third SH3 domain
- SH3-like domain superfamily
- Fibronectin type III superfamily
- RIMS-binding protein 1/2/3
- RIMS-binding protein 1/2/3, Fn3 domain
- RIMB1/RIM3A-C-like, N-terminal domain
- Variant SH3 domain
- Variant SH3 domain
- RIMBP2-like, immunoglobulin-like domain
- RIMB1-like, N-terminal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TSPOAP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TSPOAP1 as an antibody target. Whether an autoantibody or antibody against TSPOAP1 could matter depends on whether native TSPOAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TSPOAP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TSPOAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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