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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RIMBP3 Gene

protein-coding   GIFtS: 42
GCID: GC22M020456

RIMS Binding Protein 3

  Search for RIMBP3
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

Aliases
RIMS Binding Protein 31 2     RIM-BP32
RIMBP3A2 3 5     RIMBP3.12
RIM-BP3.12 3     RIMS Binding Protein 3.12
RIM-BP3.A2 3     RIMS-Binding Protein 3A2
KIAA16663 5     RIMS-Binding Protein 3.13

External Ids:    HGNC: 293441   Entrez Gene: 853762   Ensembl: ENSG000001966227   OMIM: 6126995   UniProtKB: Q9UFD93   

Export aliases for RIMBP3 gene to outside databases

Previous GC identifers: GC22M018843 GC22M003946


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

GeneCards Summary for RIMBP3 Gene: 
RIMBP3 (RIMS binding protein 3) is a protein-coding gene. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011519.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RIMBP3 gene promoter:
         ER-alpha   USF1   Brachyury   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   Egr-2   SRY   COMP1   USF-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for RIMBP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RIMBP3


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

RIMBP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RIMBP3 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M020456:  view genomic region     (about GC identifiers)

Start:
20,455,991 bp from pter      End:
20,461,786 bp from pter
Size:
5,796 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RIM3A_HUMAN, Q9UFD9 (See protein sequence)
Recommended Name: RIMS-binding protein 3A  
Size: 1639 amino acids; 180717 Da
Sequence caution: Sequence=AAH35246.2; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAB33336.1; Type=Frameshift; Positions=652; Sequence=CAB61362.2; Type=Erroneous initiation;
Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for RIMBP3:
2EGE (3D)    
Secondary accessions: Q8IYP7 Q9BY94 Q9UFQ5

Explore the universe of human proteins at neXtProt for RIMBP3: NX_Q9UFD9

Explore proteomics data for RIMBP3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UFD9

  • RIMBP3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RIMBP3 Protein Expression
    REFSEQ proteins: NP_056487.1  
    ENSEMBL proteins: 
     ENSP00000391564  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR001452 SH3_domain
     IPR013783 Ig-like_fold
     IPR011511 SH3_2

    Graphical View of Domain Structure for InterPro Entry Q9UFD9

    ProtoNet protein and cluster: Q9UFD9

    1 Blocks protein domain: IPB011511 Variant SH3

    UniProtKB/Swiss-Prot: RIM3A_HUMAN, Q9UFD9
    Similarity: Belongs to the RIMBP family
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 3 SH3 domains


    RIMBP3 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    RIMBP3 for ontologies           About GeneDecksing


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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RIMBP3

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RIMBP3 (RIM3A)

    Search CenterWatch for drugs/clinical trials and news about RIMBP3 / RIM3A

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RIMBP3 gene: 
    NM_015672.1  

    Unigene Cluster for RIMBP3:

    RIMS binding protein 3
    Hs.115429  [show with all ESTs]
    Unigene Representative Sequence: NM_015672
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000426804(uc002zsd.4)
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB051453.1 AL117509.1 AL133030.1 BC035246.1 

    4 DOTS entries:

    DT.95295994  DT.120629490  DT.411088  DT.95092771 

    24/29 AceView cDNA sequences (see all 29):

    AA973051 BU738457 AI014598 AI240644 AA782009 AI301209 AW958311 AB051453 
    BV193887 BV197087 AL133030 AL117509 BV189191 BV193891 AL041043 AW172455 
    AW086440 BV193892 BM712850 BV197086 BC035246 BG723046 BU540506 BV193885 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RIMBP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCGTCCCTC
    RIMBP3 Expression
    About this image


    See RIMBP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RIMBP3

    SOURCE GeneReport for Unigene cluster: Hs.115429
        SABiosciences Custom PCR Arrays for RIMBP3
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    In Situ
    Assay Products:
     

     
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    (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

    This gene was present in the common ancestor of animals.

    Orthologs for RIMBP3 gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    --
    20(a)
    possible ortholog
    19(425321-487603)
    lizard
    (Anolis carolinensis)
    Reptilia BZRAP16
    --
    Uncharacterized protein
    36(a)
    20(a)
    possible ortholog
    1 ↔ many
    AAWZ02039592(4229-8281)
    GL343312.1(18496-22269)
    fruit fly
    (Drosophila melanogaster)
    Insecta Rbp6
    RIM-binding protein
    11(a)
    1 → many
    3R(11200424-11228265)
    worm
    (Caenorhabditis elegans)
    Secernentea tag-1686
    Protein TAG-168
    14(a)
    possible ortholog
    III(1789147-1806621)
            Species with no ortholog for RIMBP3

    ENSEMBL Gene Tree for RIMBP3 (if available)
    TreeFam Gene Tree for RIMBP3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RIMBP3 gene
    RIMBP3B1 2  RIMBP3C1 2  BZRAP12  RIMBP22  
    2 SIMAP similar genes for RIMBP3 using alignment to 2 protein entries:     RIM3A_HUMAN (see all proteins):
    RIMBP3B    RIMBP3C

    RIMBP3 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/175 SNPs in RIMBP3 are shown (see all 175)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0289694
    ----see VAR_0289692 R C mis40--------
    rs3718188631,2
    C--3953475(+) ATATAA/CTATGT 1 -- us2k10--------
    rs3739933541,2
    C--3953627(+) CATATA/GTATAA 1 -- us2k10--------
    rs1808446661,2
    --3953645(+) ATTATA/GTATAA 1 -- us2k10--------
    rs1399078771,2
    --3953703(+) TATATC/TACATA 1 -- us2k10--------
    rs3752498871,2
    C--3953728(+) TTATA-/TAATATA 1 -- us2k10--------
    rs2009893651,2
    --3953831(+) ATACA-/AT    
       ATAAT
    ATATA
    1 -- us2k10--------
    rs1910393811,2
    --3953839(+) TAATAC/TATAAT 1 -- us2k10--------
    rs96128841,2
    --3953843(+) atataA/Ttatat 1 -- us2k10--------
    rs1879494971,2
    --3953892(+) ATATAA/TATTAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RIMBP3 (20455991 - 20461786 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/14 variations for RIMBP3 (see all 14):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv817e199CNV Deletion23128226
    nsv435744CNV Deletion17901297
    nsv820540CNV Duplication20802225
    dgv16n31CNV Duplication19718026
    nsv436867CNV Insertion17901297
    nsv510803CNV Loss20534489
    esv33990CNV Loss17666407
    nsv914377CNV Gain21882294
    nsv914378CNV Gain21882294
    dgv4866n71CNV Gain21882294

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

    RIMBP3 for disorders           About MalaCards
    OMIM gene information: 612699    OMIM disorders: --


    RIMBP3 for disorders           About GeneDecksing


    Export disorders for RIMBP3 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

    PubMed articles for RIMBP3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RIMBP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of novel transcribed sequences on human chromosome 22 by expressed sequence tag mapping. (PubMed id 11258795)1, 2, 3 Hirosawa M....Ohara O. (2001)
    2. Structure and evolution of RIM-BP genes: identificati on of a novel family member. (PubMed id 17855024)1, 3 Mittelstaedt T. and Schoch S. (2007)
    3. 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. (2004)
    4. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I....O'Brien K.P. (1999)
    5. Host-microbe interactions have shaped the genetic arch itecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (2012)
    6. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    7. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    8. 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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 85376 HGNC: 29344 AceView: LOC150221 Ensembl:ENSG00000196622 euGenes: HUgn85376
    ECgene: RIMBP3 H-InvDB: RIMBP3

    (According to HUGE)
    About This Section
    HUGE: KIAA1666

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RIMBP3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RIMBP3 gene:
    Search GeneIP for patents involving RIMBP3

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
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