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Aliases for BZRAP1 Gene

Aliases for BZRAP1 Gene

  • 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
  • PBR-IP 3 4
  • PRAX-1 3 4
  • RIMBP1 3 4
  • Benzodiazapine Receptor (Peripheral) Associated Protein 1 3
  • Benzodiazapine Receptor Peripheral-Associated Protein 1 3
  • KIAA0612 4
  • PRAX1 3
  • RBP1 4

External Ids for BZRAP1 Gene

Previous GeneCards Identifiers for BZRAP1 Gene

  • GC17M058860
  • GC17M056720
  • GC17M056853
  • GC17M053733
  • GC17M056379
  • GC17M051739

Summaries for BZRAP1 Gene

GeneCards Summary for BZRAP1 Gene

BZRAP1 (Benzodiazepine Receptor (Peripheral) Associated Protein 1) is a Protein Coding gene. Diseases associated with BZRAP1 include amelogenesis imperfecta. Among its related pathways are Signaling by GPCR and Downstream signaling events of B Cell Receptor (BCR). GO annotations related to this gene include benzodiazepine receptor binding. An important paralog of this gene is RIMBP3C.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BZRAP1 Gene

Genomics for BZRAP1 Gene

Regulatory Elements for BZRAP1 Gene

Genomic Location for BZRAP1 Gene

Chromosome:
17
Start:
58,301,227 bp from pter
End:
58,328,795 bp from pter
Size:
27,569 bases
Orientation:
Minus strand

Genomic View for BZRAP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BZRAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BZRAP1 Gene

Proteins for BZRAP1 Gene

  • Protein details for BZRAP1 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 BZRAP1 Gene

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

    Alternative splice isoforms for BZRAP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BZRAP1 Gene

Proteomics data for BZRAP1 Gene at MOPED

Post-translational modifications for BZRAP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BZRAP1 Gene

No data available for DME Specific Peptides for BZRAP1 Gene

Domains & Families for BZRAP1 Gene

Protein Domains for BZRAP1 Gene

InterPro:
Blocks:
ProtoNet:

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 BZRP 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 BZRP and the second SH3 domain mediates binding to a proline-rich motif in RIMS1 and RIMS2.
  • Contains 3 fibronectin type-III domains.
  • Contains 3 SH3 domains.
Family:
  • Belongs to the RIMBP family.
genes like me logo Genes that share domains with BZRAP1: view

No data available for Gene Families for BZRAP1 Gene

Function for BZRAP1 Gene

Gene Ontology (GO) - Molecular Function for BZRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21078624
GO:0030156 benzodiazepine receptor binding IPI 9915832
genes like me logo Genes that share ontologies with BZRAP1: view
genes like me logo Genes that share phenotypes with BZRAP1: view

Animal Model Products

miRNA for BZRAP1 Gene

miRTarBase miRNAs that target BZRAP1

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BZRAP1

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BZRAP1 Gene

Localization for BZRAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BZRAP1 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BZRAP1 Gene COMPARTMENTS Subcellular localization image for BZRAP1 gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 2

Gene Ontology (GO) - Cellular Components for BZRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 9915832
GO:0005739 mitochondrion IDA 9915832
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with BZRAP1: view

Pathways & Interactions for BZRAP1 Gene

genes like me logo Genes that share pathways with BZRAP1: view

Gene Ontology (GO) - Biological Process for BZRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007268 synaptic transmission TAS --
GO:0007269 neurotransmitter secretion TAS --
GO:0008150 biological_process ND --
GO:0014047 glutamate secretion TAS --
genes like me logo Genes that share ontologies with BZRAP1: view

No data available for SIGNOR curated interactions for BZRAP1 Gene

Drugs & Compounds for BZRAP1 Gene

No Compound Related Data Available

Transcripts for BZRAP1 Gene

Unigene Clusters for BZRAP1 Gene

Benzodiazapine receptor (peripheral) associated protein 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BZRAP1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BZRAP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^
SP1:
SP2: -
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 24 ^ 25 ^ 26 ^ 27a · 27b · 27c
SP1:
SP2:
SP3:
SP4:
SP5: - -
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:

Relevant External Links for BZRAP1 Gene

GeneLoc Exon Structure for
BZRAP1
ECgene alternative splicing isoforms for
BZRAP1

Expression for BZRAP1 Gene

mRNA expression in normal human tissues for BZRAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BZRAP1 Gene

This gene is overexpressed in Brain - Amygdala (x4.1) and Brain - Cortex (x4.0).

Protein differential expression in normal tissues from HIPED for BZRAP1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (55.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BZRAP1 Gene



SOURCE GeneReport for Unigene cluster for BZRAP1 Gene Hs.112499

mRNA Expression by UniProt/SwissProt for BZRAP1 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.
genes like me logo Genes that share expression patterns with BZRAP1: view

Protein tissue co-expression partners for BZRAP1 Gene

Primer Products

In Situ Assay Products

Orthologs for BZRAP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BZRAP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia BZRAP1 35
  • 83.16 (n)
  • 80.58 (a)
BZRAP1 36
  • 71 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BZRAP1 35
  • 86.5 (n)
  • 84.26 (a)
BZRAP1 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bzrap1 35
  • 83.04 (n)
  • 81.85 (a)
Bzrap1 16
Bzrap1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia BZRAP1 35
  • 96.88 (n)
  • 95.89 (a)
BZRAP1 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bzrap1 35
  • 83.13 (n)
  • 81.36 (a)
oppossum
(Monodelphis domestica)
Mammalia BZRAP1 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BZRAP1 36
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves BZRAP1 35
  • 62.46 (n)
  • 59.4 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 46 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia bzrap1 35
  • 62.26 (n)
  • 61.92 (a)
zebrafish
(Danio rerio)
Actinopterygii rimbp2 36
  • 6 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Rbp 36
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tag-168 36
  • 21 (a)
OneToMany
Species with no ortholog for BZRAP1:
  • 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 BZRAP1 Gene

ENSEMBL:
Gene Tree for BZRAP1 (if available)
TreeFam:
Gene Tree for BZRAP1 (if available)

Paralogs for BZRAP1 Gene

Paralogs for BZRAP1 Gene

(1) SIMAP similar genes for BZRAP1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with BZRAP1: view

Variants for BZRAP1 Gene

Sequence variations from dbSNP and Humsavar for BZRAP1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs1053809 -- 58,301,420(-) GGGTT(C/T)TCCGC utr-variant-3-prime, nc-transcript-variant
rs1053810 -- 58,301,400(-) ATCCA(A/C)TCCAT utr-variant-3-prime, nc-transcript-variant
rs1053811 -- 58,301,384(-) ACCCT(C/T)TGAGG utr-variant-3-prime, nc-transcript-variant
rs2057807 -- 58,308,148(-) CTCGC(A/G)GGCTG intron-variant
rs2072143 -- 58,316,187(-) AGGAC(A/G)TGGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BZRAP1 Gene

Variant ID Type Subtype PubMed ID
nsv517229 CNV Gain+Loss 19592680
nsv509663 CNV Insertion 20534489
nsv2109 CNV Loss 18451855
nsv908638 CNV Loss 21882294
dgv3235n71 CNV Loss 21882294
nsv457859 CNV Loss 19166990
nsv470593 CNV Loss 18288195
nsv457860 CNV Loss 19166990

Variation tolerance for BZRAP1 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)

Relevant External Links for BZRAP1 Gene

HapMap Linkage Disequilibrium report
BZRAP1
Human Gene Mutation Database (HGMD)
BZRAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BZRAP1 Gene

Disorders for BZRAP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BZRAP1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta
  • aortic valve insufficiency
- elite association

Relevant External Links for BZRAP1

Genetic Association Database (GAD)
BZRAP1
Human Genome Epidemiology (HuGE) Navigator
BZRAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BZRAP1
genes like me logo Genes that share disorders with BZRAP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BZRAP1 Gene

Publications for BZRAP1 Gene

  1. Cloning and characterization of PRAX-1. A new protein that specifically interacts with the peripheral benzodiazepine receptor. (PMID: 9915832) Galiegue S. … Casellas P. (J. Biol. Chem. 1999) 2 23 67
  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 Res. 1998) 2 67
  3. Dominant missense mutations in a novel yeast protein related to mammalian phosphatidylinositol 3-kinase and VPS34 abrogate rapamycin cytotoxicity. (PMID: 8413204) Cafferkey R. … Livi G.P. (Mol. Cell. Biol. 1993) 23 67
  4. The tyrosine89 residue of yeast FKBP12 is required for rapamycin binding. (PMID: 8325502) Koser P.L. … Bergsma D.J. (Gene 1993) 23 67
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67

Products for BZRAP1 Gene

Sources for BZRAP1 Gene

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