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RIMBP3C Gene

protein-coding   GIFtS: 40
GCID: GC22M021900

RIMS Binding Protein 3C

  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)
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Aliases
RIMS Binding Protein 3C1 2     RIMBP3.32
RIM-BP3.32 3     RIMS Binding Protein 3.32
RIM-BP3.C2 3     RIMS-Binding Protein 3C2
RIMS-Binding Protein 3.32 3     

External Ids:    HGNC: 338921   Entrez Gene: 1502212   Ensembl: ENSG000001832467   OMIM: 6127015   UniProtKB: A6NJZ73   

Export aliases for RIMBP3C gene to outside databases

Previous GC identifer: GC22M020232


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for RIMBP3C Gene:
RIMBP3C (RIMS binding protein 3C) is a protein-coding gene. Diseases associated with RIMBP3C include systemic lupus erythematosus, and lupus erythematosus. 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)
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RefSeq DNA sequence:
NC_000022.11  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the RIMBP3C gene promoter:
         ER-alpha   p53   Brachyury   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Egr-4   COMP1   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for RIMBP3C

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RIMBP3C


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

RIMBP3C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RIMBP3C gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M021900:  view genomic region     (about GC identifiers)

Start:
21,899,646 bp from pter      End:
21,905,750 bp from pter
Size:
6,105 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.)
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UniProtKB/Swiss-Prot: RIM3C_HUMAN, A6NJZ7 (See protein sequence)
Recommended Name: RIMS-binding protein 3C  
Size: 1639 amino acids; 180950 Da
Subunit: Interacts with FASLG
Caution: It is uncertain whether Met-1 or Met-95 is the initiator

Explore the universe of human proteins at neXtProt for RIMBP3C: NX_A6NJZ7

Explore proteomics data for RIMBP3C at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1226
  • Modification sites at PhosphoSitePlus

  • See RIMBP3C Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001122105.1  
    ENSEMBL proteins: 
     ENSP00000350885   ENSP00000390630  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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 A6NJZ7

    ProtoNet protein and cluster: A6NJZ7

    UniProtKB/Swiss-Prot: RIM3C_HUMAN, A6NJZ7
    Similarity: Belongs to the RIMBP family
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 3 SH3 domains


    RIMBP3C 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.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    RIMBP3C for ontologies           About GeneDecksing


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2
    plasma membrane1

    (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).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RIMBP3C
    Interactions:

        Search GeneGlobe Interaction Network for RIMBP3C

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for RIMBP3C (A6NJZ73 ENSP000003906304) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FASLGP480233, ENSP000003566944I2D: score=1 STRING: ENSP00000356694
    About this table

    (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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RIMBP3C (RIM3C)



    (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 )
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    REFSEQ mRNAs for RIMBP3C gene: 
    NM_001128633.1  

    Unigene Cluster for RIMBP3C:

    RIMS binding protein 3C
    Hs.447643  [show with all ESTs]
    Unigene Representative Sequence: NM_001128633
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000331505 ENST00000433039(uc002zuy.4)
    miRNA
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    3 DOTS entries:

    DT.411088  DT.120668223  DT.91975520 

    Selected AceView cDNA sequences (see all 29):

    AA973051 AI240644 BU738457 AI014598 AA782009 BV193890 BV193885 AI301209 
    BM712850 BC035246 BG723046 BV176571 AL133030 BV197087 BU540506 BV193891 
    AW172455 AW958311 BV197086 AB051453 BV193887 BV193892 AA813520 AL041043 

    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™, 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)
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    RIMBP3C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTCCAAGT
    RIMBP3C Expression
    About this image

    RIMBP3C Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RIMBP3C Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.447643
        Custom PCR Arrays for RIMBP3C
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RIMBP3C gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rimbp31 RIMS binding protein 3 73.66(n)
    64.86(a)
      239731  NM_001033338.3  NP_001028510.2 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    26(a)
    1 → many
    19(425321-487603)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    37(a)
    1 → many
    GL343312.1(18496-22269)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch211-105f12.26
    si:ch211-105f12.2
    30(a)
    many ↔ many
    15(14394622-14400894) ENSDARG00000090126
    fruit fly
    (Drosophila melanogaster)
    Insecta Rbp6
    RIM-binding protein
    13(a)
    1 → many
    3R(11200424-11228265)
    worm
    (Caenorhabditis elegans)
    Secernentea tag-1686
    Protein TAG-168 (tag-168) mRNA, complete cds
    16(a)
    1 → many
    III(1789147-1806621) WBGene00006513


    ENSEMBL Gene Tree for RIMBP3C (if available)
    TreeFam Gene Tree for RIMBP3C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RIMBP3C gene
    RIMBP3B1 2  RIMBP31 2  BZRAP12  RIMBP22  
    2 SIMAP similar genes for RIMBP3C using alignment to 2 protein entries:     RIM3C_HUMAN (see all proteins):
    RIMBP3    RIMBP3B

    RIMBP3C 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)
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    5 SNPs for RIMBP3C    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2011079521,2
    C--21899537(+) TCAGCC/GAGGAA 1 -- int10--------
    rs1996785711,2
    --21901347(+) CCCAGG/TCTGGT 2 T P mis10--------
    rs2010524751,2
    ----21900729(+) TAGGCA/GCCCGG 2 R C mis10--------
    rs2020792551,2
    ----21899562(+) CCTTGC/TGGACC 1 -- int10--------
    rs2002343271,2
    ----21899677(+) ACATAA/GGACAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for RIMBP3C (21899646 - 21905750 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RIMBP3C (see all 26):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678291CNV Deletion23128226
    dgv819e199CNV Deletion23128226
    dgv820e199CNV Deletion23128226
    esv2661723CNV Deletion23128226
    nsv471490CNV Duplication19718026
    nsv436864CNV Insertion17901297
    nsv914448CNV Loss21882294
    nsv914458CNV Loss21882294
    nsv428386CNV Loss18775914
    nsv834145CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 612701    OMIM disorders: --

    2 diseases for RIMBP3C:    
    About MalaCards
    systemic lupus erythematosus    lupus erythematosus


    RIMBP3C for disorders           About GeneDecksing

    Genetic Association Database (GAD): RIMBP3C

    Export disorders for RIMBP3C 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)
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    PubMed articles for RIMBP3C gene integrated from 10 sources:
    (articles sorted by number of sources associating them with RIMBP3C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening. (PubMed id 19807924)1, 2 Voss M.... Janssen O. (BMC Immunol. 2009)
    2. Structure and evolution of RIM-BP genes: identification of a novel family member. (PubMed id 17855024)1, 3 Mittelstaedt T. and Schoch S. (Gene 2007)
    3. Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus. (PubMed id 19838193)4 Han J.W....Zhang X.J. (Nat. Genet. 2009)
    4. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    5. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I.... Wright H. (Nature 1999)
    6. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (Genome Res. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 150221 HGNC: 33892 AceView: LOC150221 Ensembl:ENSG00000183246 euGenes: HUgn150221
    ECgene: RIMBP3C H-InvDB: RIMBP3C

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RIMBP3C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RIMBP3C gene:
    Search GeneIP for patents involving RIMBP3C

    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)
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