TSPOAP1 - TSPO associated protein 1 Gene

Homo sapiens

Also known as PRAX1; BZRAP1; PBR-IP; PRAX-1; RIMBP1; RIM-BP1

Gene ID: 9256 | Gene type: protein coding

About TSPOAP1

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:58,301,231-58,328,795 (from NCBI)

This gene has 11 transcripts (splice variants), 220 orthologues, 4 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 13.4), bone marrow (RPKM 7.4) and 23 other tissues.

Summary

Enables benzodiazepine receptor binding activity. Predicted to be involved in regulation of presynaptic cytosolic calcium ion concentration. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]

TSPOAP1 Products(3)

mRNA	Protein	Name
NM_001261835.2	NP_001248764.1	peripheral-type benzodiazepine receptor-associated protein 1 isoform c
NM_004758.4	NP_004749.2	peripheral-type benzodiazepine receptor-associated protein 1 isoform a
NM_024418.3	NP_077729.1	peripheral-type benzodiazepine receptor-associated protein 1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables benzodiazepine receptor binding	IPI IPI: Inferred from physical interaction	9915832	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21078624	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in regulation of neurotransmitter secretion	IMP IMP: Inferred from mutant phenotype	33539324	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	9915832	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	9915832	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TSPOAP1 Protein Structure

SH3_9

SH3_2

0
300
600
900
1200
1500
1857 a.a.

Protein Preferred Names

Protein Names

peripheral-type benzodiazepine receptor-associated protein 1

RIMS-binding protein 1

TSPOAP1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	TSPOAP1	O95153	CACNA1A	Homo sapiens	O00555	Y2H	21078624

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Segawa Syndrome, Autosomal Recessive

Tyrosine Hydroxylase Deficiency	Dystonia, Dopa-Responsive, Autosomal Recessive
Parkinsonism, Infantile, Autosomal Recessive	Segawa Syndrome, Recessive
Dyt5b	Th-Deficient Drd
Tyrosine Hydroxylase-Deficient Dopa-Responsive Dystonia	Autosomal Recessive Infantile Parkinsonism
Autosomal Recessive Dopa-Responsive Dystonia	Autosomal Recessive Dopa Responsive Dystonia
Dopa-Responsive Dystonia, Autosomal Recessive	Dopa Responsive Dystonia, Autosomal Recessive
Dyt/Park-Th	Dystonia, Dopa Responsive, Autosomal Recessive
Th Deficiency	Autosomal Recessive Segawa Syndrome
Thy	Segawa Syndrome Autosomal Recessive
ARSEGS	Thd
Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15179	TSPOAP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	TSPOAP1	RGD	RGD:708563
Mus musculus	TSPOAP1	MGD	MGI:2450877
Bos taurus	TSPOAP1	VGNC	VGNC:55881
Macaca mulatta	TSPOAP1	VGNC	VGNC:79054
Canis familiaris	TSPOAP1	VGNC	VGNC:47927
Felis catus	TSPOAP1	VGNC	VGNC:66639

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