TSPOAP1 TSPO associated protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TSPOAP1provided by HGNC
Official Full Name: TSPO associated protein 1provided by HGNC
Primary source: HGNC:HGNC:16831
See related: Ensembl:ENSG00000005379 MIM:610764; AllianceGenome:HGNC:16831
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DYT22; PRAX1; BZRAP1; PBR-IP; PRAX-1; RIMBP1; RIM-BP1
Summary: 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, Dec 2024]
Expression: Broad expression in brain (RPKM 13.4), bone marrow (RPKM 7.4) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q22

Exon count:: 32

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (58301231..58328795, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (59169111..59196675, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (56378592..56406156, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Long noncoding RNA TSPOAP1 antisense RNA 1 negatively modulates type I IFN signaling to facilitate influenza A virus replication.
Title: Long noncoding RNA TSPOAP1 antisense RNA 1 negatively modulates type I IFN signaling to facilitate influenza A virus replication.
Choroid Plexus Enlargement in Inflammatory Multiple Sclerosis: 3.0-T MRI and Translocator Protein PET Evaluation.
Title: Choroid Plexus Enlargement in Inflammatory Multiple Sclerosis: 3.0-T MRI and Translocator Protein PET Evaluation.
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
Title: Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
NF-kappaB/miR-18a-3p and miR-4286/BZRAP1 axis may mediate carcinogenesis in Helicobacter pylori-Associated gastric cancer.
Title: NF-κB/miR-18a-3p and miR-4286/BZRAP1 axis may mediate carcinogenesis in Helicobacter pylori-Associated gastric cancer.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
RIMBP1 is identified in humans.
Title: Structure and evolution of RIM-BP genes: identification of a novel family member.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dystonia 22, adult-onset MedGen: C5830658 OMIM: 620456 GeneReviews: Not available	not available
Dystonia 22, juvenile-onset MedGen: C5830645 OMIM: 620453 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables benzodiazepine receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables benzodiazepine receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
NOT involved_in neuromuscular synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neurotransmitter secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of presynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in calyx of Held	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: peripheral-type benzodiazepine receptor-associated protein 1

Names: RIMS-binding protein 1; benzodiazapine receptor peripheral-associated protein 1; benzodiazepine receptor (peripheral) associated protein 1; peripheral benzodiazepine receptor-interacting protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001261835.2 → NP_001248764.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform c

See identical proteins and their annotated locations for NP_001248764.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.

Source sequence(s)

AB014512, AC004687, AF039571, AI811889, BC150279, BC171787, BE246483, BF934025

UniProtKB/TrEMBL

B7ZVZ7, X5DQQ3

Conserved Domains (6) summary

cd12012
Location:1629 → 1690

SH3_RIM-BP_2; Second Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins

cd12013
Location:1759 → 1819

SH3_RIM-BP_3; Third Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins

cd12014
Location:657 → 717

SH3_RIM-BP_1; First Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins

cd00063
Location:885 → 947

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam12718
Location:350 → 507

Tropomyosin_1; Tropomyosin like

cl02488
Location:332 → 524

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
NM_004758.4 → NP_004749.2 peripheral-type benzodiazepine receptor-associated protein 1 isoform a

See identical proteins and their annotated locations for NP_004749.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AB014512, AC004687, AF039571, AI811889, BC146852, BC150279, BC171787, BE246483

Consensus CDS

CCDS11605.1

UniProtKB/Swiss-Prot

O75111, O95153, Q8N5W3

UniProtKB/TrEMBL

B2RUT8, X5D8U9

Related

ENSP00000345824.4, ENST00000343736.9

Conserved Domains (6) summary

cd12012
Location:1629 → 1690

SH3_RIM-BP_2; Second Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins

cd12013
Location:1768 → 1828

SH3_RIM-BP_3; Third Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins

cd12014
Location:657 → 717

SH3_RIM-BP_1; First Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins

cd00063
Location:885 → 947

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam12718
Location:350 → 507

Tropomyosin_1; Tropomyosin like

cl02488
Location:332 → 524

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
NM_024418.3 → NP_077729.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AB014512, AC004687, AF039571, AI811889, BC146852, BC171787, BE246483

Consensus CDS

CCDS45742.1

UniProtKB/TrEMBL

A7E2C5

Related

ENSP00000268893.6, ENST00000268893.10

Conserved Domains (7) summary

cd12012
Location:1569 → 1630

SH3_RIM-BP_2; Second Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins

cd12013
Location:1708 → 1768

SH3_RIM-BP_3; Third Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins

cd12014
Location:597 → 657

SH3_RIM-BP_1; First Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins

cd00063
Location:825 → 887

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam12718
Location:290 → 447

Tropomyosin_1; Tropomyosin like

pfam15619
Location:125 → 332

Lebercilin; Ciliary protein causing Leber congenital amaurosis disease

cl02488
Location:272 → 464

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...