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

    Gene ID: 9256, updated on 2-Nov-2024

    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, Nov 2024]
    Expression
    Broad expression in brain (RPKM 13.4), bone marrow (RPKM 7.4) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See TSPOAP1 in Genome Data Viewer
    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_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56326145-56326710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12462 Neighboring gene lactoperoxidase Neighboring gene enhancer region in introns 7-9 of MPO Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:56355955-56356644 Neighboring gene MPO proximal enhancer and promoter region Neighboring gene myeloperoxidase Neighboring gene MPO upstream enhancer region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:56379736-56380356 Neighboring gene Sharpr-MPRA regulatory region 10051 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56386896-56387595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56389497-56390115 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56402416-56402964 Neighboring gene TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12464 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12467 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12468 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12471 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:56412683-56413183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:56413329-56413870 Neighboring gene MIR142 host genes Neighboring gene microRNA 142 Neighboring gene microRNA 4736

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA0612, DKFZp686F02123

    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
    involved_in biological_process ND
    No biological Data available
    more info
     
    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

    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)

    NEW Try the new Transcript table

    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)

    1. NM_001261835.2NP_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:16291690
      SH3_RIM-BP_2; Second Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins
      cd12013
      Location:17591819
      SH3_RIM-BP_3; Third Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins
      cd12014
      Location:657717
      SH3_RIM-BP_1; First Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins
      cd00063
      Location:885947
      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:350507
      Tropomyosin_1; Tropomyosin like
      cl02488
      Location:332524
      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; ...
    2. NM_004758.4NP_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:16291690
      SH3_RIM-BP_2; Second Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins
      cd12013
      Location:17681828
      SH3_RIM-BP_3; Third Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins
      cd12014
      Location:657717
      SH3_RIM-BP_1; First Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins
      cd00063
      Location:885947
      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:350507
      Tropomyosin_1; Tropomyosin like
      cl02488
      Location:332524
      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; ...
    3. NM_024418.3NP_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:15691630
      SH3_RIM-BP_2; Second Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins
      cd12013
      Location:17081768
      SH3_RIM-BP_3; Third Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins
      cd12014
      Location:597657
      SH3_RIM-BP_1; First Src homology 3 domain of Rab3-interacting molecules (RIMs) binding proteins
      cd00063
      Location:825887
      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:290447
      Tropomyosin_1; Tropomyosin like
      pfam15619
      Location:125332
      Lebercilin; Ciliary protein causing Leber congenital amaurosis disease
      cl02488
      Location:272464
      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; ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      58301231..58328795 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      59169111..59196675 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)