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RMI1 Gene

protein-coding   GIFtS: 55
GCID: GC09P086595

RecQ Mediated Genome Instability 1

(Previous names: chromosome 9 open reading frame 76, RMI1, RecQ mediated...)
(Previous symbol: C9orf76)
  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
RecQ Mediated Genome Instability 11 2     BLM-Associated Polypeptide, 75 KDa2
C9orf761 2 3 5     BLM-Associated Protein 75 KDa2
BLAP752 3 5     Homolog Of Yeast RecQ-Mediated Genome Instability 1 (RMI1)2
FAAP752 3     RecQ-Mediated Genome Instability Protein 12
75 KDa1     RMI1, RecQ Mediated Genome Instability 1, Homolog2
BLM-Associated Polypeptide1     BLM-Associated Protein Of 75 KDa3
Chromosome 9 Open Reading Frame 761     RMI25
RMI1, RecQ Mediated Genome Instability 1, Homolog (S. Cerevisiae)1     

External Ids:    HGNC: 257641   Entrez Gene: 800102   Ensembl: ENSG000001789667   OMIM: 6104045   UniProtKB: Q9H9A73   

Export aliases for RMI1 gene to outside databases

Previous GC identifers: GC09P085786 GC09P056421


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RMI1 Gene:
RMI1 is a component of protein complexes that limit DNA crossover formation via the dissolution of double Holliday
junctions (Raynard et al., 2006 (PubMed 16595695)).(supplied by OMIM, Mar 2008)

GeneCards Summary for RMI1 Gene:
RMI1 (RecQ mediated genome instability 1) is a protein-coding gene. Diseases associated with RMI1 include bloom syndrome, and fanconi's anemia. An important paralog of this gene is TDRD3.

UniProtKB/Swiss-Prot: RMI1_HUMAN, Q9H9A7
Function: Essential component of the RMI complex, a complex that plays an important role in the processing of
homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to
double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation
during mitosis. Within the BLM complex, required for BLM and TOP3A stability

Gene Wiki entry for RMI1 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the RMI1 gene promoter:
         Nkx3-1   Nkx3-1 v1   Nkx2-5   Nkx3-1 v2   MEF-2A   AREB6   Nkx6-1   aMEF-2   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRMI1 promoter sequence
   Search Chromatin IP Primers for RMI1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RMI1


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

Entrez Gene cytogenetic band: 9q21.32   Ensembl cytogenetic band:  9q21.32   HGNC cytogenetic band: 9q22.1

RMI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RMI1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P086595:  view genomic region     (about GC identifiers)

Start:
86,595,626 bp from pter      End:
86,618,989 bp from pter
Size:
23,364 bases      Orientation:
plus 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: RMI1_HUMAN, Q9H9A7 (See protein sequence)
Recommended Name: RecQ-mediated genome instability protein 1  
Size: 625 amino acids; 70144 Da
Subunit: Component of the RMI complex, containing at least TOP3A, RMI1 and RMI2. The RMI complex interacts with
BLM. Directly interacts with RMI2 and TOP3A. May bind DHJ. Interacts (via N-terminus region) with BLM; the
interaction is direct
Sequence caution: Sequence=AAH20606.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH32494.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH39999.1; Type=Frameshift; Positions=375; Sequence=AAH39999.1; Type=Frameshift;
Positions=377, 444; Sequence=AAH53549.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH64937.1; Type=Frameshift; Positions=444, 615; Sequence=AAH64937.1; Type=Frameshift;
Positions=377, 444; Sequence=CAI13575.1; Type=Erroneous gene model prediction;
4 PDB 3D structures from and Proteopedia for RMI1:
3MXN (3D)        3NBH (3D)        3NBI (3D)        4DAY (3D)    
Secondary accessions: Q05BX1 Q05CW3 Q5SQG8 Q5SQG9 Q6P1Q4 Q6PI89 Q7Z6L6

Explore the universe of human proteins at neXtProt for RMI1: NX_Q9H9A7

Explore proteomics data for RMI1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys205, Lys453
  • Modification sites at PhosphoSitePlus

  • See RMI1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079221.2  
    ENSEMBL proteins: 
     ENSP00000402433   ENSP00000317039  

    RMI1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for RMI1
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    Novus Biologicals RMI1 Protein
    Novus Biologicals RMI1 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for RMI1

    RMI1 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for RMI1

    RMI1 Assay Products:

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    Cloud-Clone Corp. ELISAs for RMI1
    Cloud-Clone Corp. CLIAs for RMI1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR013894 DUF1767

    Graphical View of Domain Structure for InterPro Entry Q9H9A7

    ProtoNet protein and cluster: Q9H9A7

    2 Blocks protein domains:
    IPB004365 OB-fold nucleic acid binding domain
    IPB013894 Domain of unknown function DUF1767


    UniProtKB/Swiss-Prot: RMI1_HUMAN, Q9H9A7
    Similarity: Belongs to the RMI1 family


    RMI1 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RMI1_HUMAN, Q9H9A7
    Function: Essential component of the RMI complex, a complex that plays an important role in the processing of
    homologous recombination intermediates to limit DNA crossover formation in cells. Promotes TOP3A binding to
    double Holliday junctions (DHJ) and hence stimulates TOP3A-mediated dissolution. Required for BLM phosphorylation
    during mitosis. Within the BLM complex, required for BLM and TOP3A stability

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15775963
         
    RMI1 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rmi1):
     adipose tissue  behavior/neurological  growth/size/body  homeostasis/metabolism  liver/biliary system 
     mortality/aging 

    RMI1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RMI1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RMI1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RMI1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RMI1

    miRNA
    Products:
        
    miRTarBase miRNAs that target RMI1:
    hsa-mir-26b-5p (MIRT030122), hsa-mir-193b-3p (MIRT041604), hsa-mir-215-5p (MIRT024471), hsa-mir-192-5p (MIRT026840)

    Block miRNA regulation of human, mouse, rat RMI1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RMI1 (see all 9):
    hsa-miR-607 hsa-miR-429 hsa-miR-513a-3p hsa-miR-545 hsa-miR-570 hsa-miR-33a* hsa-miR-200c hsa-miR-362-5p
    SwitchGear 3'UTR luciferase reporter plasmidRMI1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RMI1
    Predesigned siRNA for gene silencing in human, mouse, rat RMI1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RMI1

    Clone
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    OriGene clones in human, mouse for RMI1 (see all 8)
    OriGene ORF clones in mouse, rat for RMI1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RMI1 (NM_024945)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RMI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RMI1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for RMI1
    Browse ESI BIO Cell Lines and PureStem Progenitors for RMI1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RMI1


    (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 UniProtKB/Swiss-Prot
    RMI1_HUMAN, Q9H9A7: Nucleus. Note=Forms foci in response to DNA damage
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--

    RMI1 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).
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    SuperPaths for RMI1 About    
    See pathways by source

    SuperPathContained pathways About
    1Fanconi anemia pathway (KEGG)
    Fanconi anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for RMI1):
        Fanconi anemia pathway


    RMI1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RMI1
    Interactions:

        GeneGlobe Interaction Network for RMI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RMI1 (Q9H9A71, 2, 3 ENSP000003170394) via UniProtKB, MINT, STRING, and/or I2D (see all 71)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BLMP541321, 2, 3, ENSP000003472324EBI-621339,EBI-621372 MINT-8048980 MINT-8049128 MINT-8048995 MINT-8049010 MINT-8048961 MINT-8049038 I2D: score=2 STRING: ENSP00000347232
    RMI2Q96E142, 3, ENSP000003103564MINT-8048980 MINT-8048995 MINT-8049010 MINT-8048961 MINT-8049038 I2D: score=1 STRING: ENSP00000310356
    HSPA13P487232, 3, ENSP000002856674MINT-8258533 I2D: score=2 STRING: ENSP00000285667
    NR1H2P550552, 3MINT-8263907 I2D: score=2 
    PFDN1O609252, 3MINT-8266018 I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006260DNA replication IEA--

    RMI1 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)
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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 RMI1



    (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 RMI1 gene: 
    NM_024945.2  

    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000445877 ENST00000325875(uc004anq.4 uc004anr.4 uc004anp.4 uc004ans.4)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RMI1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RMI1 (see all 9):
    hsa-miR-607 hsa-miR-429 hsa-miR-513a-3p hsa-miR-545 hsa-miR-570 hsa-miR-33a* hsa-miR-200c hsa-miR-362-5p
    SwitchGear 3'UTR luciferase reporter plasmidRMI1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RMI1
    Predesigned siRNA for gene silencing in human, mouse, rat RMI1
    Clone
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    OriGene clones in human, mouse for RMI1 (see all 8)
    OriGene ORF clones in mouse, rat for RMI1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RMI1 (NM_024945)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RMI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RMI1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for RMI1
    OriGene qSTAR qPCR primer pairs in human, mouse for RMI1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat RMI1
      QuantiTect SYBR Green Assays in human, mouse, rat RMI1
      QuantiFast Probe-based Assays in human, mouse, rat RMI1

    Selected AceView cDNA sequences (see all 129):

    AI632071 BM661843 BU152925 BX395214 T34975 AI377322 AA306479 BC020606 
    BC053549 AI886612 AI653609 CB306112 BE328766 AW615100 AA236532 AA977204 
    AW955256 BC032494 AA613327 AA814239 AA805442 BU429327 AA449116 Z39901 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RMI1 (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d · 6e
    SP1:                                      -                                             
    SP2:                          -           -     -                                       
    SP3:                                      -     -                                       
    SP4:                          -     -     -     -                                       
    SP5:                                -     -     -                                       


    ECgene alternative splicing isoforms for RMI1

    (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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    RMI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTGAGCTTG
    RMI1 Expression
    About this image


    RMI1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    RMI1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RMI1 Protein Expression
        Custom PCR Arrays for RMI1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for RMI1
    OriGene qSTAR qPCR primer pairs in human, mouse for RMI1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat RMI1
    QuantiTect SYBR Green Assays in human, mouse, rat RMI1
    QuantiFast Probe-based Assays in human, mouse, rat RMI1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RMI1

    (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 RMI1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rmi11 , 5 RMI1, RecQ mediated genome instability 1, homolog (S. more1, 5 80.51(n)1
    73.62(a)1
      13 (31.05 cM)5
    743861  NM_028904.31  NP_083180.31 
     584025975 
    chicken
    (Gallus gallus)
    Aves RMI11 RMI1, RecQ mediated genome instability 1, homolog (S. more 62.66(n)
    56.93(a)
      431669  NM_001031612.2  NP_001026783.1 
    lizard
    (Anolis carolinensis)
    Reptilia RMI16
    RecQ mediated genome instability 1
    51(a)
    1 ↔ 1
    2(42550953-42552662)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rmi11 RecQ mediated genome instability 1 65.71(n)
    61.67(a)
      549050  NM_001016296.2  NP_001016296.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc558822 hypothetical protein MGC55882 71.33(n)   393149  BC045482.1 
    worm
    (Caenorhabditis elegans)
    Secernentea T07C12.126
    Protein T07C12.12 (T07C12.12) mRNA, complete cds
    18(a)
    1 ↔ 1
    V(9927782-9930775) WBGene00011576


    ENSEMBL Gene Tree for RMI1 (if available)
    TreeFam Gene Tree for RMI1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RMI1 gene
    TDRD32  

    RMI1 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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    Selected SNPs for RMI1 (see all 465)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1403211761,2
    C--86597576(+) AGACCA/CTGTCT 1 -- int10--------
    rs2014107731,2
    --86597605(+) AAAAA-/CAAAAA 1 -- int10--------
    rs1821229581,2
    --86597606(+) AAAAAA/CAAAAA 1 -- int10--------
    rs1123689741,2
    F--86597627(+) CCAGTG/TTCATT 1 -- int12Minor allele frequency- T:0.50CSA 4
    rs1864438531,2
    --86597633(+) TCATTA/GTCCAG 1 -- int10--------
    rs1503373061,2
    --86597711(+) CCCCCA/CATTTG 1 -- int10--------
    rs2968921,2
    C,F,O,A,H--86597806(-) CTTAAC/TTTCAA 1 -- int120Minor allele frequency- N:0.00NS EA NA WA 1418
    rs1918655551,2
    --86597851(+) TTCAAC/GAACTT 1 -- int10--------
    rs3722986161,2
    C--86597867(+) TACATG/TCATTG 1 -- int10--------
    rs1837284511,2
    --86598015(+) GCTGCA/GTTATT 1 -- int10--------

    HapMap Linkage Disequilibrium report for RMI1 (86595626 - 86618989 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RMI1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831644CNV Gain17160897
    nsv893514CNV Gain21882294
    dgv2394e1CNV Complex17122850
    nsv436717OTHER Inversion17901297

    Human Gene Mutation Database (HGMD): RMI1
    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: 610404    OMIM disorders: --

    7 diseases for RMI1:    
    About MalaCards
    bloom syndrome    fanconi's anemia    albinism    colorectal cancer
    melanoma    prostate cancer    prostatitis

    1 disease from the University of Copenhagen DISEASES database for RMI1:
    Bloom syndrome

    RMI1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RMI1
    Human Genome Epidemiology (HuGE) Navigator: RMI1 (4 documents)

    Export disorders for RMI1 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 RMI1 gene, integrated from 10 sources (see all 41):
    (articles sorted by number of sources associating them with RMI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity. (PubMed id 15775963)1, 2, 3 Yin J.... Wang W. (EMBO J. 2005)
    2. Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. (PubMed id 19432957)1, 4, 9 Broberg K....HAPglund M. (BMC Cancer 2009)
    3. Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM. (PubMed id 19945966)1, 4, 9 Frank B....Brenner H. (Carcinogenesis 2010)
    4. Structure and cellular roles of the RMI core complex from the bloom syndrome dissolvasome. (PubMed id 20826341)1, 3 Hoadley K.A....Keck J.L. (Structure 2010)
    5. Predisposition for TMPRSS2-ERG fusion in prostate cancer by variants in DNA repair genes. (PubMed id 19861517)1, 4 Luedeke M....Maier C. (amp 2009)
    6. Genetic variant of the human homologous recombination-associated gene RMI1 (S455N) impacts the risk of AML/MDS and malignant melanoma. (PubMed id 17900800)1, 4 Broberg K....Olsson H. (Cancer Lett. 2007)
    7. BLAP75/RMI1 promotes the BLM-dependent dissolution of homologous recombination intermediates. (PubMed id 16537486)1, 2 Wu L.... Hickson I.D. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    8. A double Holliday junction dissolvasome comprising BLM, topoisomerase III alpha, and BLAP75. (PubMed id 16595695)1, 2 Raynard S.... Sung P. (J. Biol. Chem. 2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)

    (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: 80010 HGNC: 25764 AceView: C9orf76 Ensembl:ENSG00000178966 euGenes: HUgn80010
    ECgene: RMI1 Kegg: 80010 H-InvDB: RMI1

    (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 RMI1 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 RMI1 gene:
    Search GeneIP for patents involving RMI1

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



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