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

RBMS1 Gene

protein-coding   GIFtS: 56
GCID: GC02M161128

RNA Binding Motif, Single Stranded Interacting Protein 1

(Previous name: chromosome 2 open reading frame 12)
(Previous symbol: C2orf12)
  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

Aliases
RNA Binding Motif, Single Stranded Interacting Protein 11 2     HCC-42
C2orf121 2 3     MSSP-12
C-Myc Gene Single Strand Binding Protein 21 2     MSSP-22
Suppressor Of Cdc 2 (Cdc13) With RNA Binding Motif 21 2     MSSP-32
Single-Stranded DNA-Binding Protein MSSP-12 3     YC12
Suppressor Of CDC2 With RNA-Binding Motif 22 3     Cervical Cancer Oncogene 42
MSSP2 3     RNA-Binding Motif, Single-Stranded-Interacting Protein 12
SCR22 3     MSSP13
Chromosome 2 Open Reading Frame 121     

External Ids:    HGNC: 99071   Entrez Gene: 59372   Ensembl: ENSG000001532507   OMIM: 6023105   UniProtKB: P295583   

Export aliases for RBMS1 gene to outside databases

Previous GC identifers: GC02M159061 GC02M159659 GC02M161094 GC02M161333 GC02M160956 GC02M160838 GC02M153011


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

Entrez Gene summary for RBMS1 Gene:
This gene encodes a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are
characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved
motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. These proteins
have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and
apoptosis. Several transcript variants, resulting from alternative splicing and encoding different isoforms, have
been described. A pseudogene for this locus is found on chromosome 12. (provided by RefSeq, Feb 2009)

GeneCards Summary for RBMS1 Gene: 
RBMS1 (RNA binding motif, single stranded interacting protein 1) is a protein-coding gene. Diseases associated with RBMS1 include cholesterol embolism, and cervical cancer. GO annotations related to this gene include double-stranded DNA binding and RNA binding. An important paralog of this gene is PABPC1L.

UniProtKB/Swiss-Prot: RBMS1_HUMAN, P29558
Function: Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds
specifically to the DNA sequence motif 5'-[AT]CT[AT][AT]T-3'. Probably has a role in DNA replication

Gene Wiki entry for RBMS1 Gene


(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_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RBMS1 gene promoter:
         CREB   deltaCREB   LHX3a/Lhx3a   NRSF form 2   GATA-1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBMS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RBMS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBMS1


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

Entrez Gene cytogenetic band: 2q24.2   Ensembl cytogenetic band:  2q24.2   HGNC cytogenetic band: 2q24.2

RBMS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBMS1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M161128:  view genomic region     (about GC identifiers)

Start:
161,128,662 bp from pter      End:
161,350,318 bp from pter
Size:
221,657 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: RBMS1_HUMAN, P29558 (See protein sequence)
Recommended Name: RNA-binding motif, single-stranded-interacting protein 1  
Size: 406 amino acids; 44505 Da
Subcellular location: Nucleus
Developmental stage: Expressed at highest levels during the G1 to S transition of the cell cycle
Sequence caution: Sequence=AAX93095.1; Type=Erroneous gene model prediction; Sequence=CAA45923.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=CAA45923.1; Type=Frameshift; Positions=319, 360;
Sequence=CAA54628.1; Type=Erroneous translation; Note=Wrong coding sequence;
1 PDB 3D structure from and Proteopedia for RBMS1:
1X5O (3D)    
Secondary accessions: Q14869 Q15433 Q53P46 Q53QX8 Q53RG6 Q8WV20
Alternative splicing: 3 isoforms:  P29558-1   P29558-2   P29558-4   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for RBMS1: NX_P29558

Explore proteomics data for RBMS1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P29558

  • RBMS1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RBMS1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_002888.1  NP_058520.1  

    ENSEMBL proteins: 
     ENSP00000294904   ENSP00000386347   ENSP00000386571   ENSP00000387280   ENSP00000389016  
     ENSP00000376508  

    Human Recombinant Protein Products for RBMS1: 
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    Novus Biologicals RBMS1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RBMS1 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS7838710

    RBMS1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for RBMS1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RBM: RNA binding motif (RRM) containing

    3 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom
     IPR002343 Hud_Sxl_RNA

    Graphical View of Domain Structure for InterPro Entry P29558

    ProtoNet protein and cluster: P29558

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB001199 Cytochrome b5


    UniProtKB/Swiss-Prot: RBMS1_HUMAN, P29558
    Similarity: Contains 2 RRM (RNA recognition motif) domains


    RBMS1 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBMS1_HUMAN, P29558
    Function: Single-stranded DNA binding protein that interacts with the region upstream of the MYC gene. Binds
    specifically to the DNA sequence motif 5'-[AT]CT[AT][AT]T-3'. Probably has a role in DNA replication

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003690double-stranded DNA binding NAS7838710
    GO:0003697single-stranded DNA binding NAS7838710
    GO:0003723RNA binding NAS8041632
         
    RBMS1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RBMS1:
     Decreased viability with pacli 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rbms1):
     embryogenesis  growth/size  homeostasis/metabolism  mortality/aging  reproductive system 

    RBMS1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rbms1tm1Hiro for RBMS1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RBMS1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RBMS1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RBMS1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RBMS1 

    miRNA
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    miRTarBase miRNAs that target RBMS1:
    hsa-mir-30a (MIRT005194)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RBMS1
    8/158 QIAGEN miScript miRNA Assays for microRNAs that regulate RBMS1 (see all 158):
    hsa-miR-579 hsa-miR-1321 hsa-miR-193a-3p hsa-miR-376b hsa-miR-106a hsa-miR-1245 hsa-miR-3916 hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidRBMS1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): RBMS1 (NM_016836)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBMS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBMS1
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                         Customized lentivirus expression plasmids for stable overexpression of RBMS1 

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBMS1


    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RBMS1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for RBMS1 (P295583 ENSP000002949044) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    POLA1P098843, ENSP000003683494I2D: score=2 STRING: ENSP00000368349
    NSFP464593I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006260DNA replication NAS7838710
    GO:0006396RNA processing TAS8041632

    RBMS1 for ontologies           About GeneDecksing



    (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 RBMS1

    Search CenterWatch for drugs/clinical trials and news about RBMS1

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 RBMS1 gene (3 alternative transcripts): 
    NM_002897.4  NM_016836.3  NM_016839.2  

    Unigene Cluster for RBMS1:

    RNA binding motif, single stranded interacting protein 1
    Hs.470412  [show with all ESTs]
    Unigene Representative Sequence: NM_016836
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000474820 ENST00000348849(uc002ubn.3 uc002ubo.3 uc002ubi.4 uc002ubm.3 uc002ubp.3)
    ENST00000474147 ENST00000409075 ENST00000409289 ENST00000475103 ENST00000490637
    ENST00000409972 ENST00000477965 ENST00000464200 ENST00000491781(uc010fox.2)
    ENST00000492283 ENST00000428519 ENST00000477486 ENST00000392753
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RBMS1
    8/158 QIAGEN miScript miRNA Assays for microRNAs that regulate RBMS1 (see all 158):
    hsa-miR-579 hsa-miR-1321 hsa-miR-193a-3p hsa-miR-376b hsa-miR-106a hsa-miR-1245 hsa-miR-3916 hsa-miR-502-3p
    SwitchGear 3'UTR luciferase reporter plasmidRBMS1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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    OriGene clones in human, mouse for RBMS1 (see all 18)
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RBMS1 (NM_016836)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RBMS1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RBMS1
    Sirion Biotech Customized lentivirus for stable overexpression of RBMS1 
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    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for RBMS1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RBMS1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RBMS1

    Additional mRNA sequence: 

    AK225887.1 AK297812.1 AK309949.1 AL117617.1 BC012992.2 BC012993.2 BC018951.2 BC051889.1 
    BC065192.1 BC069687.1 BC069706.1 BC069763.1 BC080620.1 D28482.1 L11289.1 X64652.1 
    X77494.1 

    24/25 DOTS entries (see all 25):

    DT.100788574  DT.97797780  DT.100792078  DT.91775112  DT.91775105  DT.100792081  DT.121004796  DT.95091813 
    DT.100792084  DT.97762881  DT.40113755  DT.97846341  DT.100792082  DT.100792087  DT.100788575  DT.100792080 
    DT.206572  DT.121004783  DT.100792089  DT.100645517  DT.100788576  DT.121004788  DT.100792083  DT.91775107 

    24/563 AceView cDNA sequences (see all 563):

    AI089300 AI079838 AA883490 AI223340 BF431285 CR598466 AA114963 AA580795 
    AA329848 AA465687 AI357393 BQ000564 CR598283 BU687601 AA953117 AI373572 
    AK127157 BQ680231 AW629982 BM842637 AI382004 R70124 N25217 AI245453 

    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

    RBMS1 expression in normal human tissues (normalized intensities)      RBMS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGAAGATT
    RBMS1 Expression
    About this image


    RBMS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Uterus (Reproductive System)
             Uterus Corpus   
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
     
     Eye (Sensory Organs)
             GABAergic Amacrine Cells Inner Nuclear Layer
     
     Amnion (Extraembryonic Tissues)

    See RBMS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RBMS1

    SOURCE GeneReport for Unigene cluster: Hs.470412

    UniProtKB/Swiss-Prot: RBMS1_HUMAN, P29558
    Tissue specificity: Highest amounts are found in placenta, lung and heart

        SABiosciences Custom PCR Arrays for RBMS1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBMS1

    (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 and fungi.

    Orthologs for RBMS1 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbms11 , 5 RNA binding motif, single stranded interacting protein more1, 5 90.5(n)1
    96.31(a)1
      2 (34.95 cM)5
    568781  NM_001141932.11  NP_001135404.11 
     607501935 
    chicken
    (Gallus gallus)
    Aves RBMS11 RNA binding motif, single stranded interacting protein more 85.25(n)
    93.3(a)
      395880  NM_205024.1  NP_990355.1 
    lizard
    (Anolis carolinensis)
    Reptilia RBMS16
    RNA binding motif, single stranded interacting pro...
    74(a)
    1 ↔ 1
    GL343371.1(516203-622203)
    African clawed frog
    (Xenopus laevis)
    Amphibia rbms1-prov2 RNA binding motif, single stranded interacting protein more 87.42(n)    BC043623.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570746072   -- 76.19(n)    57074607 
    fruit fly
    (Drosophila melanogaster)
    Insecta shep6
    CG46126
    --
    28(a)
    14(a)
    1 ↔ many
    possible ortholog
    3L(5148921-5271044)
    2R(20409397-20413612)
    worm
    (Caenorhabditis elegans)
    Secernentea R10E4.2b3 RNA recognition motif. (aka RRM, RBD,
    or RNP domain) more
    59(a)
    (best of 2)
      III(4349152-4351056)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PAB16
    Poly(A) binding protein, part of the 3'-end RNA-pr...
    7(a)
    1 → many
    V(510373-512106)


    ENSEMBL Gene Tree for RBMS1 (if available)
    TreeFam Gene Tree for RBMS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RBMS1 gene
    PABPC1L2  PABPC52  PABPC42  ELAVL12  PABPC4L2  ELAVL42  ELAVL32  RBMS32  
    PABPC32  PABPC1L2B2  ELAVL22  PABPC1L2A2  RBMS22  PABPC12  
    12 SIMAP similar genes for RBMS1 using alignment to 5 protein entries:     RBMS1_HUMAN (see all proteins):
    RBMS3    RBMS2    CELF4    CELF2    CELF3    ELAVL1
    PABPC4L    ELAVL2    DAZAP1    PABPC3    PABPC4    PABPC1

    RBMS1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RBMS1
    PGOHUM00000239501


    (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

    10/3690 SNPs in RBMS1 are shown (see all 3690)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs726231251,2
    C,F--161128206(+) CCCGAG/CGTTCT 2 -- ds50012Minor allele frequency- C:0.17NA EA 240
    rs1166427571,2
    F--161128397(+) GAGCCG/CACCGT 2 -- ds50011Minor allele frequency- C:0.01WA 118
    rs1387306521,2
    --161128407(+) TTGACA/GTGCTG 2 -- ds50010--------
    rs121046471,2
    A--161128419(+) GCTGAC/GGGTTG 2 -- ds50010--------
    rs1890222621,2
    --161128475(+) AAATAA/CCCAGC 2 -- ds50010--------
    rs1493435941,2
    --161128507(+) TTCCAA/GTTGTT 2 -- ds50010--------
    rs560060821,2
    C--161128719(+) AAGCTA/GACAAT 2 -- ut310--------
    rs1813974251,2
    --161128876(+) TCTTGA/CTCATA 2 -- ut310--------
    rs562306881,2
    C--161129240(+) ACCAAC/TAATAC 2 -- ut310--------
    rs1446685841,2
    C--161129322(+) AGAATC/TTACAC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for RBMS1 (161128662 - 161350318 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for RBMS1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2721041CNV Deletion23290073
    esv2721039CNV Deletion23290073
    esv1606282CNV Deletion17803354
    esv991493CNV Deletion20482838
    dgv743e199CNV Deletion23128226
    esv2672047CNV Deletion23128226
    nsv3000CNV Insertion18451855
    nsv2998CNV Insertion18451855
    nsv3001CNV Loss18451855
    nsv821774CNV Gain20364138

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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
    OMIM gene information: 602310    OMIM disorders: --

    6 diseases for RBMS1:    About MalaCards
    cholesterol embolism    cervical cancer    cervicitis    measles
    lateral sclerosis    amyotrophic lateral sclerosis


    RBMS1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RBMS1
    Human Genome Epidemiology (HuGE) Navigator: RBMS1 (4 documents)

    Export disorders for RBMS1 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 RBMS1 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with RBMS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of MSSP-2, a c-myc gene single-strand binding protein: characterization of binding specificity and DNA replication activity. (PubMed id 7838710)1, 2, 3, 9 Takai T.... Ariga H. (1994)
    2. Identification and cDNA cloning of single-stranded DNA binding proteins that interact with the region upstream of the human c-myc gene. (PubMed id 8134115)1, 2, 3, 9 Negishi Y.... Ariga H. (1994)
    3. SCR: novel human suppresors of cdc2/cdc13 mutants of Schizosaccharomyces pombe harbour motifs for RNA binding proteins. (PubMed id 8041632)1, 2, 3 Kanaoka Y. and Nojima H. (1994)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Genetic variants at 2q24 are associated with suscepti bility to type 2 diabetes. (PubMed id 20418489)1, 4 Qi L....van Dam R.M. (2010)
    6. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PubMed id 19451621)1, 4 Landers J.E....Brown R.H. (2009)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    8. 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)
    9. MSSP, a protein binding to an origin of replication in the c-myc gene, interacts with a catalytic subunit of DNA polymerase alpha and stimulates its polymerase activity. (PubMed id 10869558)1, 9 Niki T....Iguchi-Ariga S.M. (2000)
    10. Cloning and characterization of the genomic DNA of the human MSSP genes. (PubMed id 8871567)1, 9 Haigermoser C.... Ariga H. (1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5937 HGNC: 9907 AceView: RBMS1 Ensembl:ENSG00000153250 euGenes: HUgn5937
    ECgene: RBMS1 H-InvDB: RBMS1

    (According to HUGE)
    About This Section
      --

    (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 RBMS1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RBMS1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RBMS1 gene:
    Search GeneIP for patents involving RBMS1

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



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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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