TSPOAP1 - TSPO associated protein 1 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9256

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
Molecular Function GO Annotation Evidence References 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 References Source
involved in regulation of neurotransmitter secretion IMP
IMP: Inferred from mutant phenotype
33539324 GOA
Cellular Component GO Annotation Evidence References 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_9: Variant SH3 domain (666 - 716)

SH3_2

SH3_2: Variant SH3 domain (1630 - 1691)

SH3_2

SH3_2: Variant SH3 domain (1769 - 1827)

  • 0
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  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
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

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
Others TSPOAP1 NCBI