Tspoap1 TSPO associated protein 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tspoap1provided by MGI
Official Full Name: TSPO associated protein 1provided by MGI
Primary source: MGI:MGI:2450877
See related: Ensembl:ENSMUSG00000034156 AllianceGenome:MGI:2450877
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Bzrap1; PRAX-1; mKIAA0612; D230016K05
Summary: Enables voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels. Predicted to be involved in regulation of neurotransmitter secretion. Is active in calyx of Held and glutamatergic synapse. Is expressed in lung. Human ortholog(s) of this gene implicated in dystonia 22, adult-onset and dystonia 22, juvenile-onset. Orthologous to human TSPOAP1 (TSPO associated protein 1). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in frontal lobe adult (RPKM 29.5), cortex adult (RPKM 26.7) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 C; 11 52.21 cM

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (87649022..87676754)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (87758194..87785928)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_17091-17092:1023824100:1 (e-PCR)
- UniSTS:268216

MARC_17091-17092:1032359674:3 (e-PCR)
- UniSTS:268216

GDB:182516 (e-PCR)
- UniSTS:155384

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables benzodiazepine receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables benzodiazepine receptor binding	IEA Inferred from Electronic Annotation more info
enables benzodiazepine receptor binding	ISO Inferred from Sequence Orthology more info
enables voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels	IDA Inferred from Direct Assay more info	PubMed
enables voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels	IMP Inferred from Mutant Phenotype more info	PubMed

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	ISO Inferred from Sequence Orthology more info
involved_in regulation of neurotransmitter secretion	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of presynaptic cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in calyx of Held	IDA Inferred from Direct Assay more info	PubMed
is_active_in calyx of Held	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info

General protein information

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

Names: PBR-IP; RIM-BP1; RIMS-binding protein 1; benzodiazapine receptor associated protein 1; benzodiazepine receptor associated protein 1; peripheral benzodiazepine receptor-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_172449.2 → NP_766037.2 peripheral-type benzodiazepine receptor-associated protein 1

See identical proteins and their annotated locations for NP_766037.2

Status: VALIDATED

Source sequence(s)

AK043747, BC055691, BQ769688, BY233070, CA317177, CB249809, CD348883, CN460580, CN525117, CO429655, EL605892

Consensus CDS

CCDS48879.1

UniProtKB/Swiss-Prot

Q5NCP7, Q7TNF8, Q80TV9, Q8BIH5

UniProtKB/TrEMBL

Q5NCP6

Related

ENSMUSP00000048063.6, ENSMUST00000039627.12

Conserved Domains (9) summary

cd12012
Location:1620 → 1681

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

cd12013
Location:1760 → 1819

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

cd12014
Location:653 → 713

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

cd00063
Location:881 → 943

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 ...

pfam05837
Location:127 → 232

CENP-H; Centromere protein H (CENP-H)

pfam08614
Location:58 → 183

ATG16; Autophagy protein 16 (ATG16)

pfam09728
Location:147 → 510

Taxilin; Myosin-like coiled-coil protein

cl02488
Location:330 → 518

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; ...

cl23720
Location:427 → 519

RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000077.7 Reference GRCm39 C57BL/6J

Range

87649022..87676754

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532703.5 → XP_006532766.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform X2

UniProtKB/TrEMBL

Q5NCP6

Conserved Domains (7) summary

cd12012
Location:1613 → 1674

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

cd12013
Location:1765 → 1824

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

cd12014
Location:646 → 706

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

PHA03247
Location:1332 → 1723

PHA03247; large tegument protein UL36; Provisional

COG1196
Location:158 → 496

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00063
Location:874 → 936

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 ...

pfam08614
Location:123 → 183

ATG16; Autophagy protein 16 (ATG16)
XM_006532702.5 → XP_006532765.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform X1

UniProtKB/TrEMBL

Q5NCP6

Conserved Domains (7) summary

cd12012
Location:1620 → 1681

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

cd12013
Location:1772 → 1831

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

cd12014
Location:653 → 713

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

PHA03247
Location:1339 → 1730

PHA03247; large tegument protein UL36; Provisional

COG1196
Location:158 → 501

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00063
Location:881 → 943

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 ...

pfam08614
Location:123 → 183

ATG16; Autophagy protein 16 (ATG16)
XM_030245745.2 → XP_030101605.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform X8

UniProtKB/TrEMBL

Q5NCP6

Conserved Domains (6) summary

cd12012
Location:1340 → 1401

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

cd12013
Location:1492 → 1551

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

cd12014
Location:653 → 713

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

COG1196
Location:158 → 501

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00063
Location:881 → 943

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 ...

pfam08614
Location:123 → 183

ATG16; Autophagy protein 16 (ATG16)
XM_006532709.5 → XP_006532772.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform X6

UniProtKB/TrEMBL

Q5NCP6

Conserved Domains (6) summary

cd12012
Location:1340 → 1401

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

cd12013
Location:1492 → 1551

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

cd12014
Location:653 → 713

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

COG1196
Location:158 → 501

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00063
Location:881 → 943

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 ...

pfam08614
Location:123 → 183

ATG16; Autophagy protein 16 (ATG16)
XM_006532710.5 → XP_006532773.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform X9

UniProtKB/TrEMBL

Q5NCP6

Conserved Domains (6) summary

cd12012
Location:1340 → 1401

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

cd12013
Location:1480 → 1539

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

cd12014
Location:653 → 713

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

COG1196
Location:158 → 501

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00063
Location:881 → 943

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 ...

pfam08614
Location:123 → 183

ATG16; Autophagy protein 16 (ATG16)
XM_036156489.1 → XP_036012382.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform X7

UniProtKB/TrEMBL

Q5NCP6

Conserved Domains (6) summary

cd12012
Location:1340 → 1401

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

cd12013
Location:1480 → 1539

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

cd12014
Location:653 → 713

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

COG1196
Location:158 → 501

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00063
Location:881 → 943

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 ...

pfam08614
Location:123 → 183

ATG16; Autophagy protein 16 (ATG16)
XM_006532706.3 → XP_006532769.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform X4

UniProtKB/TrEMBL

Q5NCP6

Conserved Domains (7) summary

cd12012
Location:1620 → 1681

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

cd12013
Location:1772 → 1831

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

cd12014
Location:653 → 713

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

PHA03247
Location:1339 → 1730

PHA03247; large tegument protein UL36; Provisional

COG1196
Location:158 → 501

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00063
Location:881 → 943

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 ...

pfam08614
Location:123 → 183

ATG16; Autophagy protein 16 (ATG16)
XM_006532704.3 → XP_006532767.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform X3

UniProtKB/TrEMBL

Q5NCP6

Conserved Domains (7) summary

cd12012
Location:1620 → 1681

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

cd12013
Location:1760 → 1819

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

cd12014
Location:653 → 713

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

PHA03247
Location:1339 → 1730

PHA03247; large tegument protein UL36; Provisional

COG1196
Location:158 → 501

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00063
Location:881 → 943

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 ...

pfam08614
Location:123 → 183

ATG16; Autophagy protein 16 (ATG16)
XM_006532708.4 → XP_006532771.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform X5

UniProtKB/TrEMBL

Q5NCP6

Conserved Domains (6) summary

cd12012
Location:1365 → 1426

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

cd12013
Location:1517 → 1576

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

cd12014
Location:398 → 458

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

PHA03247
Location:1084 → 1475

PHA03247; large tegument protein UL36; Provisional

cd00063
Location:626 → 688

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 ...

TIGR02168
Location:58 → 269

SMC_prok_B; chromosome segregation protein SMC, common bacterial type
XM_006532712.2 → XP_006532775.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform X10

See identical proteins and their annotated locations for XP_006532775.1

Conserved Domains (6) summary

cd12012
Location:1184 → 1245

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

cd12013
Location:1336 → 1395

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

cd12014
Location:217 → 277

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

PHA03247
Location:900 → 1294

PHA03247; large tegument protein UL36; Provisional

cd00063
Location:445 → 507

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 ...

pfam00769
Location:1 → 84

ERM; Ezrin/radixin/moesin family
XM_030245746.2 → XP_030101606.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform X11

Conserved Domains (6) summary

cd12012
Location:1177 → 1238

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

cd12013
Location:1329 → 1388

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

cd12014
Location:210 → 270

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

PHA03247
Location:896 → 1287

PHA03247; large tegument protein UL36; Provisional

COG1196
Location:3 → 77

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00063
Location:438 → 500

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 ...
XM_006532711.1 → XP_006532774.1 peripheral-type benzodiazepine receptor-associated protein 1 isoform X10

See identical proteins and their annotated locations for XP_006532774.1

Conserved Domains (6) summary

cd12012
Location:1184 → 1245

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

cd12013
Location:1336 → 1395

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

cd12014
Location:217 → 277

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

PHA03247
Location:900 → 1294

PHA03247; large tegument protein UL36; Provisional

cd00063
Location:445 → 507

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 ...

pfam00769
Location:1 → 84

ERM; Ezrin/radixin/moesin family