Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



BZRAP1 Gene

protein-coding   GIFtS: 54
GCID: GC17M056379

Benzodiazepine Receptor (Peripheral) Associated Protein...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Benzodiazepine Receptor (Peripheral) Associated Protein 11 2     RIMS-Binding Protein 12 3
RIMBP12 3 5     PRAX12 5
Peripheral Benzodiazepine Receptor-Interacting Protein2 3     KIAA06123 5
PBR-IP2 3     Benzodiazapine Receptor (Peripheral) Associated Protein 12
PRAX-12 3     Peripheral-Type Benzodiazepine Receptor-Associated Protein 12
RIM-BP12 3     RBP13

External Ids:    HGNC: 168311   Entrez Gene: 92562   Ensembl: ENSG000000053797   OMIM: 6107645   UniProtKB: O951533   

Export aliases for BZRAP1 gene to outside databases

Previous GC identifers: GC17M058860 GC17M056720 GC17M056853 GC17M053733 GC17M051739


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

GeneCards Summary for BZRAP1 Gene:
BZRAP1 (benzodiazepine receptor (peripheral) associated protein 1) is a protein-coding gene. Diseases associated with BZRAP1 include ataxia, and cerebritis. GO annotations related to this gene include benzodiazepine receptor binding. An important paralog of this gene is RIMBP3B.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BZRAP1 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F-2   E47   c-Ets-1   AREB6   E2F   E2F-1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBZRAP1 promoter sequence
   Search Chromatin IP Primers for BZRAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BZRAP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q22-q23   Ensembl cytogenetic band:  17q22   HGNC cytogenetic band: 17q22-q23

BZRAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BZRAP1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M056379:  view genomic region     (about GC identifiers)

Start:
56,378,592 bp from pter      End:
56,406,152 bp from pter
Size:
27,561 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: RIMB1_HUMAN, O95153 (See protein sequence)
Recommended Name: Peripheral-type benzodiazepine receptor-associated protein 1  
Size: 1857 amino acids; 200051 Da
Subunit: Interacts with RIMS1 and RIMS2 (By similarity). Interacts with BZRP
Caution: PubMed:9915832 demonstrated interaction with BZRP but later PubMed:12435798 demonstrated in the rat
ortholog that is not associated with BZRP in the brain
Sequence caution: Sequence=BAA31587.2; Type=Erroneous initiation;
Secondary accessions: O75111 Q8N5W3
Alternative splicing: 3 isoforms:  O95153-1   O95153-2   O95153-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BZRAP1: NX_O95153

Explore proteomics data for BZRAP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BZRAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001248764.1  NP_004749.2  NP_077729.1  

    ENSEMBL proteins: 
     ENSP00000462518   ENSP00000268893   ENSP00000345824   ENSP00000462822   ENSP00000462710  
     ENSP00000347929  

    BZRAP1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for BZRAP1
    GenScript Custom Purified and Recombinant Proteins Services for BZRAP1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BZRAP1

    BZRAP1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for BZRAP1
    Novus Biologicals BZRAP1 Antibodies
    Abcam antibodies for BZRAP1
    Cloud-Clone Corp. Antibodies for BZRAP1
    Search ThermoFisher Antibodies for BZRAP1
    Search LSBio for Antibodies for BZRAP1

    BZRAP1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BZRAP1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BZRAP1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BZRAP1
    Cloud-Clone Corp. CLIAs for BZRAP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    3 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR001452 SH3_domain
     IPR011511 SH3_2

    Graphical View of Domain Structure for InterPro Entry O95153

    ProtoNet protein and cluster: O95153

    1 Blocks protein domain: IPB011511 Variant SH3

    UniProtKB/Swiss-Prot: RIMB1_HUMAN, O95153
    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 (By similarity)
    Similarity: Belongs to the RIMBP family
    Similarity: Contains 3 fibronectin type-III domains
    Similarity: Contains 3 SH3 domains


    BZRAP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0030156benzodiazepine receptor binding IPI9915832
         
    BZRAP1 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for BZRAP1:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Bzrap1):
     normal 

    BZRAP1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BZRAP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BZRAP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BZRAP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BZRAP1

    miRNA
    Products:
        
    miRTarBase miRNAs that target BZRAP1:
    hsa-mir-335-5p (MIRT018901)

    Block miRNA regulation of human, mouse, rat BZRAP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BZRAP1 (see all 61):
    hsa-miR-4254 hsa-miR-136 hsa-miR-1224-3p hsa-miR-1260b hsa-miR-374a hsa-miR-301a hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidBZRAP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BZRAP1
    Predesigned siRNA for gene silencing in human, mouse, rat BZRAP1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BZRAP1

    Clone
    Products:
         
    OriGene clones in human, mouse for BZRAP1 (see all 10)
    OriGene ORF clones in mouse, rat for BZRAP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BZRAP1 (NM_024418)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BZRAP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BZRAP1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for BZRAP1
    Browse ESI BIO Cell Lines and PureStem Progenitors for BZRAP1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BZRAP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    RIMB1_HUMAN, O95153: Cytoplasm. Mitochondrion. Note=Preferentially expressed in the mitochondria in the presence
    of BZRP
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus3
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA9915832
    GO:0005739mitochondrion IDA9915832

    BZRAP1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for BZRAP1 About    
    See pathways by source

    SuperPathContained pathways About
    1Benzodiazepine Pathway, Pharmacodynamics
    Benzodiazepine Pathway, Pharmacodynamics

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for BZRAP1
        Visual Cycle in Retinal Rods

    1 PharmGKB Pathway for BZRAP1
        Benzodiazepine Pathway, Pharmacodynamics

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BZRAP1
    Interactions:

        Search GeneGlobe Interaction Network for BZRAP1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for BZRAP1 (O951531, 2, 3 ENSP000003458244) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CACNA1AO005551, 3, ENSP000003533624EBI-5915931,EBI-766279 I2D: score=1 STRING: ENSP00000353362
    TSPOP305363, ENSP000003289734I2D: score=3 STRING: ENSP00000328973
    KHDRBS1ENSP000003138294STRING: ENSP00000313829
    --Q9WNA92MINT-8109572
    --Q9WMX22MINT-7049582
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    BZRAP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BZRAP1 (RIMB1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for BZRAP1 gene (3 alternative transcripts): 
    NM_001261835.1  NM_004758.3  NM_024418.2  

    Unigene Cluster for BZRAP1:

    Benzodiazapine receptor (peripheral) associated protein 1
    Hs.112499  [show with all ESTs]
    Unigene Representative Sequence: NM_004758
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000581692(uc002ivv.3) ENST00000581675 ENST00000268893(uc002ivw.3 uc010dcs.3)
    ENST00000578511 ENST00000343736 ENST00000577871 ENST00000580669 ENST00000582679
    ENST00000578486 ENST00000585149 ENST00000583624 ENST00000355701(uc002ivx.4 uc010wnt.2)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat BZRAP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BZRAP1 (see all 61):
    hsa-miR-4254 hsa-miR-136 hsa-miR-1224-3p hsa-miR-1260b hsa-miR-374a hsa-miR-301a hsa-miR-124 hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidBZRAP1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for BZRAP1
    Predesigned siRNA for gene silencing in human, mouse, rat BZRAP1
    Clone
    Products:
         
    OriGene clones in human, mouse for BZRAP1 (see all 10)
    OriGene ORF clones in mouse, rat for BZRAP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BZRAP1 (NM_024418)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BZRAP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BZRAP1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for BZRAP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat BZRAP1
      QuantiTect SYBR Green Assays in human, mouse, rat BZRAP1
      QuantiFast Probe-based Assays in human, mouse, rat BZRAP1

    Additional mRNA sequence: 

    AB014512.2 AF039571.1 BC031401.1 BC146852.1 BC150279.1 BC171787.1 

    9 DOTS entries:

    DT.105560  DT.40294151  DT.100021174  DT.95284764  DT.100690993  DT.40223774  DT.100752358  DT.91792064 
    DT.95092354 

    Selected AceView cDNA sequences (see all 45):

    AA344996 CR597762 AA598963 BC031401 BM699062 D81728 AI983346 AI333235 
    BQ639257 BX101491 BM475427 AI699873 NM_004758 BI753129 AF039571 BI822441 
    BX648763 AA325497 CF453552 AI811889 AI452994 BU159287 AB014512 BF337562 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BZRAP1 (see all 11)    About this scheme

    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:                                                                                                                                                            

    ExUns: 24 ^ 25 ^ 26 ^ 27a · 27b · 27c
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:        -     -                     


    ECgene alternative splicing isoforms for BZRAP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    BZRAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCCTTTGC
    BZRAP1 Expression
    About this image


    BZRAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Blood (Hematopoietic System)
             Natural Killer Cells Peripheral Blood
    BZRAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BZRAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.112499

    UniProtKB/Swiss-Prot: RIMB1_HUMAN, O95153
    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

        Custom PCR Arrays for BZRAP1
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for BZRAP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat BZRAP1
    QuantiTect SYBR Green Assays in human, mouse, rat BZRAP1
    QuantiFast Probe-based Assays in human, mouse, rat BZRAP1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BZRAP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for BZRAP1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bzrap11 , 5 benzodiazepine receptor associated protein 11, 5 83.04(n)1
    81.85(a)1
      11 (52.21 cM)5
    2077771  NM_172449.21  NP_766037.21 
     877605415 
    chicken
    (Gallus gallus)
    Aves BZRAP11 benzodiazapine receptor (peripheral) associated protein more 62.46(n)
    59.4(a)
      417469  XM_004946404.1  XP_004946461.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    46(a)
    many ↔ many
    AAWZ02039592(4229-8281)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL871785.22   -- 76.19(n)    AL871785.2 
    zebrafish
    (Danio rerio)
    Actinopterygii rimbp26
    RIMS binding protein 2
    6(a)
    many ↔ many
    8(46121698-46125794) ENSDARG00000093752
    fruit fly
    (Drosophila melanogaster)
    Insecta Rbp6
    RIM-binding protein
    18(a)
    1 → many
    3R(11200424-11228265)
    worm
    (Caenorhabditis elegans)
    Secernentea tag-1686
    Protein TAG-168 (tag-168) mRNA, complete cds
    21(a)
    1 → many
    III(1789147-1806621) WBGene00006513


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for BZRAP1 gene
    RIMBP3B2  RIMBP22  RIMBP32  RIMBP3C2  
    1 SIMAP similar gene for BZRAP1 using alignment to 6 protein entries:     RIMB1_HUMAN (see all proteins):
    RIMBP2

    BZRAP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for BZRAP1 (see all 698)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1995590021,2
    --56378172(+) AATCC-/TGTTGTTT 3 -- ds50010--------
    rs733159671,2
    C,F--56378245(+) TTCTAT/GTTCTC 3 -- ds50012Minor allele frequency- G:0.07WA 120
    rs1470159171,2
    --56378254(+) TCTCAC/TGTCTA 3 -- ds50010--------
    rs1476325231,2
    --56378287(+) GAGGAC/GAAAGA 3 -- ds50010--------
    rs1897425821,2
    --56378376(+) ACAACC/TCCAGC 3 -- ds50010--------
    rs1155614981,2
    C,F--56378400(+) ATCTGA/GCCCTG 3 -- ds50011Minor allele frequency- G:0.01WA 118
    rs1471489061,2
    --56378474(+) GTTGA-/TTGGTT 3 -- ds50010--------
    rs620845771,2
    C,F--56378564(+) GGAGTC/TCTTTG 3 -- ds50012Minor allele frequency- T:0.07NA 122
    rs1823523531,2
    --56378591(+) CATAGA/CTTTTG 3 -- ut310--------
    rs1878360911,2
    --56378711(+) CACAGC/GAAAGG 3 -- ut310--------

    HapMap Linkage Disequilibrium report for BZRAP1 (56378592 - 56406152 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for BZRAP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509663CNV Insertion20534489
    nsv457859CNV Loss19166990
    nsv457860CNV Loss19166990
    dgv3235n71CNV Loss21882294
    nsv2109CNV Loss18451855
    nsv908638CNV Loss21882294
    nsv470593CNV Loss18288195
    nsv517229CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BZRAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for BZRAP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 610764    OMIM disorders: --

    2 diseases for BZRAP1:    
    About MalaCards
    ataxia    cerebritis


    BZRAP1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): BZRAP1
    Human Genome Epidemiology (HuGE) Navigator: BZRAP1 (1 document)

    Export disorders for BZRAP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for BZRAP1 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with BZRAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of PRAX-1. A new protein that specifically interacts with the peripheral benzodiazepine receptor. (PubMed id 9915832)1, 2, 3, 9 Galiegue S....Casellas P. (J. Biol. Chem. 1999)
    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. (PubMed id 9734811)1, 2, 3 Ishikawa K.... Ohara O. (DNA Res. 1998)
    3. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. (PubMed id 19557195)1, 4 Bucan M....Hakonarson H. (PLoS Genet. 2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. (PubMed id 23375655)2 Parry D.A....Mighell A.J. (Am. J. Hum. Genet. 2013)
    6. Comprehensive analysis of interactions between the Src-associated protein in mitosis of 68 kDa and the human Src-homology 3 proteome. (PubMed id 22745667)1 Asbach B....Wagner R. (PLoS ONE 2012)
    7. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. (PubMed id 21078624)1 Kahle J.J....Zoghbi H.Y. (Hum. Mol. Genet. 2011)
    8. Structure and evolution of RIM-BP genes: identification of a novel family member. (PubMed id 17855024)1 Mittelstaedt T. and Schoch S. (Gene 2007)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. (PubMed id 10737800)1 Dias Neto E....Simpson A.J.G. (Proc. Natl. Acad. Sci. U.S.A. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 9256 HGNC: 16831 AceView: BZRAP1 Ensembl:ENSG00000005379 euGenes: HUgn9256
    ECgene: BZRAP1 H-InvDB: BZRAP1

    (According to HUGE)
    About This Section

    TryGeneCards Plus
    HUGE: KIAA0612

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for BZRAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for BZRAP1 gene:
    Search GeneIP for patents involving BZRAP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for BZRAP1  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for BZRAP1  
     OriGene qSTAR qPCR primer pairs in human, mouse for BZRAP1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for BZRAP1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for BZRAP1   OriGene Custom Protein Services for BZRAP1  

     
     
     Block miRNA regulation of human, mouse, rat BZRAP1 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing BZRAP1
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BZRAP1 Predesigned siRNA for gene silencing in human, mouse, rat BZRAP1
     QuantiFast Probe-based Assays in human, mouse, rat BZRAP1 QuantiTect SYBR Green Assays in human, mouse, rat BZRAP1
     Custom PCR Arrays for BZRAP1 Search Chromatin IP Primers for BZRAP1
     Pre-validated RT2 qPCR Primer Assay in human, mouse / rat BZRAP1  Search GeneGlobe Interaction Network for BZRAP1
     Regulatory tfbs in BZRAP1 promoter
     GenScript Custom Purified and Recombinant Proteins Services for BZRAP1 GenScript cDNA clones with any tag delivered in your preferred vector for BZRAP1
     GenScript Custom Assay Services for BZRAP1 GenScript Custom overexpressing Cell Line Services for BZRAP1
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for BZRAP1 (RIMB1)
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     BZRAP1 antibodies
     Antibodies for BZRAP1
     See all of Abcam's Antibodies, Kits and Proteins for BZRAP1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for BZRAP1
     Antibodies for BZRAP1
     ELISAs for BZRAP1
     CLIAs for BZRAP1



     Browse ESI BIO Cell Lines and PureStem Progenitors for BZRAP1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BZRAP1
     SwitchGear 3'UTR luciferase reporter plasmids for BZRAP1
     SwitchGear Promoter luciferase reporter plasmids for BZRAP1
     Search ThermoFisher Antibodies for BZRAP1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BZRAP1
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BZRAP1
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BZRAP1
     Search LSBio for Antibodies for BZRAP1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      BZRAP1 gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4