Aliases for TSPOAP1 Gene

Aliases for TSPOAP1 Gene

  • TSPO Associated Protein 1 2 3 5
  • Peripheral-Type Benzodiazepine Receptor-Associated Protein 1 3 4
  • Benzodiazepine Receptor (Peripheral) Associated Protein 1 2 3
  • Peripheral Benzodiazepine Receptor-Interacting Protein 3 4
  • RIMS-Binding Protein 1 3 4
  • RIM-BP1 3 4
  • BZRAP1 3 4
  • PBR-IP 3 4
  • PRAX-1 3 4
  • RIMBP1 3 4
  • Benzodiazapine Receptor Peripheral-Associated Protein 1 3
  • TSPO-Associated Protein 1 4
  • KIAA0612 4
  • PRAX1 3
  • RBP1 4

External Ids for TSPOAP1 Gene

Previous HGNC Symbols for TSPOAP1 Gene

  • BZRAP1

Summaries for TSPOAP1 Gene

GeneCards Summary for TSPOAP1 Gene

TSPOAP1 (TSPO Associated Protein 1) is a Protein Coding gene. Diseases associated with TSPOAP1 include Fuchs' Endothelial Dystrophy. Among its related pathways are Neurotransmitter Release Cycle and Transmission across Chemical Synapses. An important paralog of this gene is RIMBP3.

Additional gene information for TSPOAP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TSPOAP1 Gene

Genomics for TSPOAP1 Gene

GeneHancer (GH) Regulatory Elements for TSPOAP1 Gene

Promoters and enhancers for TSPOAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TSPOAP1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for TSPOAP1 Gene

Genomic Locations for TSPOAP1 Gene
chr17:58,301,227-58,328,795
(GRCh38/hg38)
Size:
27,569 bases
Orientation:
Minus strand
chr17:56,378,592-56,406,152
(GRCh37/hg19)
Size:
27,561 bases
Orientation:
Minus strand

Genomic View for TSPOAP1 Gene

Genes around TSPOAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSPOAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSPOAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSPOAP1 Gene

Proteins for TSPOAP1 Gene

  • Protein details for TSPOAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95153-RIMB1_HUMAN
    Recommended name:
    Peripheral-type benzodiazepine receptor-associated protein 1
    Protein Accession:
    O95153
    Secondary Accessions:
    • O75111
    • Q8N5W3

    Protein attributes for TSPOAP1 Gene

    Size:
    1857 amino acids
    Molecular mass:
    200051 Da
    Quaternary structure:
    • Interacts with RIMS1 and RIMS2 (By similarity). Interacts with TSPO.
    SequenceCaution:
    • Sequence=BAA31587.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TSPOAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSPOAP1 Gene

Post-translational modifications for TSPOAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TSPOAP1 Gene

No data available for DME Specific Peptides for TSPOAP1 Gene

Domains & Families for TSPOAP1 Gene

Gene Families for TSPOAP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TSPOAP1 Gene

Suggested Antigen Peptide Sequences for TSPOAP1 Gene

GenScript: Design optimal peptide antigens:
  • BZRAP1 protein (A7E2C5_HUMAN)
  • Benzodiazapine receptor (Peripheral) associated protein 1 (B2RUT8_HUMAN)
  • BZRAP1 protein (B7ZVZ7_HUMAN)
  • RIMS-binding protein 1 (RIMB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95153

UniProtKB/Swiss-Prot:

RIMB1_HUMAN :
  • The SH3 and proline-rich domain is required for the interaction with TSPO and the second SH3 domain mediates binding to a proline-rich motif in RIMS1 and RIMS2.
  • Belongs to the RIMBP family.
Domain:
  • The SH3 and proline-rich domain is required for the interaction with TSPO and the second SH3 domain mediates binding to a proline-rich motif in RIMS1 and RIMS2.
Family:
  • Belongs to the RIMBP family.
genes like me logo Genes that share domains with TSPOAP1: view

Function for TSPOAP1 Gene

Phenotypes From GWAS Catalog for TSPOAP1 Gene

Gene Ontology (GO) - Molecular Function for TSPOAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21078624
GO:0030156 benzodiazepine receptor binding IPI 9915832
GO:0099626 voltage-gated calcium channel activity involved in regulation of presynaptic cytosolic calcium levels IEA --
genes like me logo Genes that share ontologies with TSPOAP1: view
genes like me logo Genes that share phenotypes with TSPOAP1: view

Animal Models for TSPOAP1 Gene

MGI Knock Outs for TSPOAP1:

Animal Model Products

CRISPR Products

miRNA for TSPOAP1 Gene

miRTarBase miRNAs that target TSPOAP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSPOAP1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TSPOAP1 Gene

Localization for TSPOAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSPOAP1 Gene

Cytoplasm. Mitochondrion. Note=Preferentially expressed in the mitochondria in the presence of TSPO.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TSPOAP1 gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 3

Gene Ontology (GO) - Cellular Components for TSPOAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IBA 9915832
GO:0005739 mitochondrion IDA,IBA 9915832
GO:0005829 cytosol TAS --
GO:0044305 calyx of Held IEA --
GO:0098978 glutamatergic synapse IEA --
genes like me logo Genes that share ontologies with TSPOAP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TSPOAP1 Gene

Pathways & Interactions for TSPOAP1 Gene

genes like me logo Genes that share pathways with TSPOAP1: view

Gene Ontology (GO) - Biological Process for TSPOAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006700 C21-steroid hormone biosynthetic process TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0007274 NOT neuromuscular synaptic transmission IBA 21873635
GO:0008150 biological_process ND --
GO:0014047 glutamate secretion TAS --
genes like me logo Genes that share ontologies with TSPOAP1: view

No data available for SIGNOR curated interactions for TSPOAP1 Gene

Drugs & Compounds for TSPOAP1 Gene

No Compound Related Data Available

Transcripts for TSPOAP1 Gene

mRNA/cDNA for TSPOAP1 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TSPOAP1

Alternative Splicing Database (ASD) splice patterns (SP) for TSPOAP1 Gene

No ASD Table

Relevant External Links for TSPOAP1 Gene

GeneLoc Exon Structure for
TSPOAP1
ECgene alternative splicing isoforms for
TSPOAP1

Expression for TSPOAP1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TSPOAP1 Gene:

TSPOAP1

mRNA Expression by UniProt/SwissProt for TSPOAP1 Gene:

O95153-RIMB1_HUMAN
Tissue specificity: Predominantly expressed in brain, pituitary gland and thymus in adults. In adult brain, highest expression found in temporal lobe and the putamen, followed by amygdala, caudate nucleus, cerebral cortex, occipital and frontal lobe. A high expression level is also observed in fetal tissues like brain, heart, kidney and thymus.

Evidence on tissue expression from TISSUES for TSPOAP1 Gene

  • Nervous system(4.8)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TSPOAP1 Gene

Orthologs for TSPOAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TSPOAP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BZRAP1 33 32
  • 96.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BZRAP1 33 32
  • 86.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BZRAP1 33 32
  • 83.16 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bzrap1 32
  • 83.13 (n)
mouse
(Mus musculus)
Mammalia Bzrap1 33 32
  • 83.04 (n)
OneToOne
Tspoap1 17
oppossum
(Monodelphis domestica)
Mammalia BZRAP1 33
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BZRAP1 33
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves BZRAP1 32
  • 62.46 (n)
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 46 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bzrap1 32
  • 62.26 (n)
zebrafish
(Danio rerio)
Actinopterygii rimbp2 33
  • 6 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Rbp 33
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-168 33
  • 21 (a)
OneToMany
Species where no ortholog for TSPOAP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TSPOAP1 Gene

ENSEMBL:
Gene Tree for TSPOAP1 (if available)
TreeFam:
Gene Tree for TSPOAP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TSPOAP1: view image

Paralogs for TSPOAP1 Gene

Paralogs for TSPOAP1 Gene

genes like me logo Genes that share paralogs with TSPOAP1: view

Variants for TSPOAP1 Gene

Sequence variations from dbSNP and Humsavar for TSPOAP1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs61741210 benign, not specified 58,309,371(-) C/T coding_sequence_variant, missense_variant
rs61743284 benign, not specified 58,327,685(-) C/T coding_sequence_variant, missense_variant
rs1000021468 -- 58,324,445(-) C/A/T intron_variant
rs1000027554 -- 58,313,529(-) T/G intron_variant
rs1000032783 -- 58,322,017(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TSPOAP1 Gene

Variant ID Type Subtype PubMed ID
nsv2109 CNV deletion 18451855
nsv457859 CNV loss 19166990
nsv457860 CNV loss 19166990
nsv470593 CNV loss 18288195
nsv509663 CNV insertion 20534489
nsv517229 CNV gain+loss 19592680
nsv575798 CNV loss 21841781
nsv575799 CNV loss 21841781
nsv952349 CNV deletion 24416366

Variation tolerance for TSPOAP1 Gene

Residual Variation Intolerance Score: 98.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.67; 91.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TSPOAP1 Gene

Human Gene Mutation Database (HGMD)
TSPOAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSPOAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSPOAP1 Gene

Disorders for TSPOAP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TSPOAP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
fuchs' endothelial dystrophy
  • fced
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TSPOAP1

genes like me logo Genes that share disorders with TSPOAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TSPOAP1 Gene

Publications for TSPOAP1 Gene

  1. Cloning and characterization of PRAX-1. A new protein that specifically interacts with the peripheral benzodiazepine receptor. (PMID: 9915832) Galiègue S … Casellas P (The Journal of biological chemistry 1999) 2 3 4 23 56
  2. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 56
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 56
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 56

Products for TSPOAP1 Gene

  • Biorbyt antibodies for TSPOAP1

Sources for TSPOAP1 Gene