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MRI1 Gene

protein-coding   GIFtS: 53
GCID: GC19P013875

Methylthioribose-1-Phosphate Isomerase 1

(Previous name: methylthioribose-1-phosphate isomerase homolog (S. cerevisiae))
  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
Methylthioribose-1-Phosphate Isomerase 11 2     EC 5.3.1.233 8
Mediator Of RhoA-Dependent Invasion1 2 3     Methylthioribose-1-Phosphate Isomerase Homolog (S. Cerevisiae)1
MRDI2 3 5     MTNA2
S-Methyl-5-Thioribose-1-Phosphate Isomerase 11 2     Ypr118w2
Translation Initiation Factor EIF-2B Subunit Alpha/Beta/Delta-Like Protein2 3     Methylthioribose-1-Phosphate Isomerase2
M1Pi2 3     Methylthioribose-1-Phosphate Isomerase Homolog2
MTR-1-P Isomerase2 3     S-Methyl-5-Thioribose-1-Phosphate Isomerase3

External Ids:    HGNC: 284691   Entrez Gene: 842452   Ensembl: ENSG000000377577   OMIM: 6151055   UniProtKB: Q9BV203   

Export aliases for MRI1 gene to outside databases

Previous GC identifers: GC19P013737 GC19P013447


(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 MRI1 Gene:
MRI1 (methylthioribose-1-phosphate isomerase 1) is a protein-coding gene. Diseases associated with MRI1 include spinal cord melanoma, and visual agnosia. GO annotations related to this gene include S-methyl-5-thioribose-1-phosphate isomerase activity and identical protein binding.

UniProtKB/Swiss-Prot: MTNA_HUMAN, Q9BV20
Function: Catalyzes the interconversion of methylthioribose-1-phosphate (MTR-1-P) into
methylthioribulose-1-phosphate (MTRu-1-P). Independently from catalytic activity, promotes cell invasion in
response to constitutive RhoA activation by promoting FAK tyrosine phosphorylation and stress fiber turnover

Gene Wiki entry for MRI1 (MGC3207) 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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RefSeq DNA sequence:
NC_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MRI1 gene promoter:
         AhR   RFX1   RP58   AP-4   Arnt   AREB6   E2F   E2F-1   Zic3   Pax-4a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for MRI1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MRI1


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.13

MRI1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRI1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P013875:  view genomic region     (about GC identifiers)

Start:
13,875,337 bp from pter      End:
13,885,096 bp from pter
Size:
9,760 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MTNA_HUMAN, Q9BV20 (See protein sequence)
Recommended Name: Methylthioribose-1-phosphate isomerase  
Size: 369 amino acids; 39150 Da
2 PDB 3D structures from and Proteopedia for MRI1:
4LDQ (3D)        4LDR (3D)    
Secondary accessions: Q8NDC9
Alternative splicing: 2 isoforms:  Q9BV20-1   Q9BV20-2   

Explore the universe of human proteins at neXtProt for MRI1: NX_Q9BV20

Explore proteomics data for MRI1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MRI1 (Q9BV20) (see all 14)
     NTGALAT  NGDTANK  PFYVAAP  LTHCNTG 


    See MRI1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001026897.1  NP_115661.1  

    ENSEMBL proteins: 
     ENSP00000314871   ENSP00000466369   ENSP00000040663  
    Reactome Protein details: Q9BV20

    MRI1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for MRI1
    OriGene Protein Over-expression Lysate for MRI1
    OriGene MassSpec for MRI1
    OriGene Custom Protein Services for MRI1
    GenScript Custom Purified and Recombinant Proteins Services for MRI1
    Novus Biologicals MRI1 Protein
    Novus Biologicals MRI1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MRI1

    MRI1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MRI1
    OriGene Custom Antibody Services for MRI1
    Novus Biologicals MRI1 Antibodies
    Abcam antibodies for MRI1
    Cloud-Clone Corp. Antibodies for MRI1
    Search ThermoFisher Antibodies for MRI1
    LSBio Antibodies in human, mouse, rat for MRI1

    MRI1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MRI1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MRI1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MRI1
    Cloud-Clone Corp. CLIAs for MRI1


    (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:
     IPR000649 IF-2B-related
     IPR027363 M1Pi_N
     IPR005251 IF-M1Pi
     IPR011559 Initiation_fac_2B_a/b/d

    Graphical View of Domain Structure for InterPro Entry Q9BV20

    ProtoNet protein and cluster: Q9BV20

    2 Blocks protein domains:
    IPB000649 Initiation factor 2B
    IPB011559 Initiation factor 2B alpha/beta/delta


    UniProtKB/Swiss-Prot: MTNA_HUMAN, Q9BV20
    Similarity: Belongs to the eIF-2B alpha/beta/delta subunits family. MtnA subfamily


    MRI1 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: MTNA_HUMAN, Q9BV20
    Function: Catalyzes the interconversion of methylthioribose-1-phosphate (MTR-1-P) into
    methylthioribulose-1-phosphate (MTRu-1-P). Independently from catalytic activity, promotes cell invasion in
    response to constitutive RhoA activation by promoting FAK tyrosine phosphorylation and stress fiber turnover
    Catalytic activity: S-methyl-5-thio-alpha-D-ribose 1-phosphate = S-methyl-5-thio-D-ribulose 1-phosphate
    Induction: By RhoA activation in cancer cells (at protein level)

         Enzyme Number (IUBMB): EC 5.3.1.231 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042802identical protein binding IPI16189514
    GO:0046523S-methyl-5-thioribose-1-phosphate isomerase activity IBA--
         
    MRI1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MRI1:
     Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MRI1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MRI1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MRI1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MRI1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat MRI1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate MRI1:
    hsa-miR-3616-5p hsa-miR-573 hsa-miR-3647-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MRI1
    Predesigned siRNA for gene silencing in human, mouse, rat MRI1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MRI1

    Clone
    Products:
         
    OriGene clones in human, mouse for MRI1 (see all 9)
    OriGene ORF clones in mouse, rat for MRI1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MRI1 (NM_032285)
    Sino Biological Human cDNA Clone for MRI1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MRI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRI1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MRI1
    Browse ESI BIO Cell Lines and PureStem Progenitors for MRI1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRI1


    (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
    MTNA_HUMAN, Q9BV20: Nucleus. Cytoplasm. Cell projection. Note=Primarily nuclear, but cytoplasmic in cancer
    cells, with enrichment at leading edge of the plasma membrane in late stage tumor cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005730nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0042995cell projection IEA--

    MRI1 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 MRI1 About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism of amino acids and derivatives
    Methionine salvage pathway0.00
    Metabolism of polyamines0.00
    Metabolism of amino acids and derivatives
    S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Sulfur amino acid metabolism
    Sulfur amino acid metabolism0.35
    Cysteine and methionine metabolism0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for MRI1
        S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I


    1 Reactome Pathway for MRI1
        Methionine salvage pathway


    2 Kegg Pathways  (Kegg details for MRI1):
        Cysteine and methionine metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: MTNA_HUMAN, Q9BV20
    Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via salvage pathway; L-methionine from
    S-methyl-5-thio-alpha-D-ribose 1-phosphate: step 1/6


    MRI1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MRI1
    Interactions:

        Search GeneGlobe Interaction Network for MRI1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for MRI1 (Q9BV201, 2, 3 ENSP000000406634) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATF7IPQ6VMQ62, 3MINT-61927 I2D: score=3 
    MRI1Q9BV201, 2EBI-747381,EBI-747381 MINT-67041
    GCSHP234343, ENSP000003195314I2D: score=1 STRING: ENSP00000319531
    ERHP840903I2D: score=5 
    RPS13P622773I2D: score=5 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000096sulfur amino acid metabolic process TAS--
    GO:0006595polyamine metabolic process TAS--
    GO:0019509L-methionine salvage from methylthioadenosine TAS--
    GO:0034641cellular nitrogen compound metabolic process TAS--
    GO:0044237cellular metabolic process ----

    MRI1 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 MRI1 (MTNA)



    (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,
    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 MRI1 gene (2 alternative transcripts): 
    NM_001031727.2  NM_032285.2  

    Unigene Cluster for MRI1:

    Methylthioribose-1-phosphate isomerase homolog (S. cerevisiae)
    Hs.439370  [show with all ESTs]
    Unigene Representative Sequence: NM_001031727
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000588526 ENST00000319545(uc002mxf.3) ENST00000593245 ENST00000591688
    ENST00000040663(uc002mxe.3) ENST00000589290
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MRI1 using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate MRI1:
    hsa-miR-3616-5p hsa-miR-573 hsa-miR-3647-5p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MRI1
    Predesigned siRNA for gene silencing in human, mouse, rat MRI1
    Clone
    Products:
         
    OriGene clones in human, mouse for MRI1 (see all 9)
    OriGene ORF clones in mouse, rat for MRI1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MRI1 (NM_032285)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MRI1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRI1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MRI1
    OriGene qSTAR qPCR primer pairs in human, mouse for MRI1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MRI1
      QuantiTect SYBR Green Assays in human, mouse, rat MRI1
      QuantiFast Probe-based Assays in human, mouse, rat MRI1

    Additional mRNA sequence: 

    AF318324.1 AK026666.1 AL834276.1 AY358176.1 BC001703.1 

    13 DOTS entries:

    DT.100021762  DT.97841808  DT.100023536  DT.100021763  DT.100779890  DT.97840881  DT.100741593  DT.121447304 
    DT.92009757  DT.95198675  DT.100696001  DT.121447322  DT.95228165 

    Selected AceView cDNA sequences (see all 129):

    BQ423609 BQ278850 AI827445 BM464168 AW628063 BQ944049 BQ957291 CA443924 
    C00589 BI836320 CA432188 AW518952 AI700965 CB993747 AA768616 CB993271 
    BV188669 AI446455 AI086053 AI674556 BQ936002 AW043950 AI659046 AI199259 

    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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    MRI1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MRI1 Expression
    About this image

    MRI1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MRI1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.439370
        Custom PCR Arrays for MRI1
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MRI1
    OriGene qSTAR qPCR primer pairs in human, mouse for MRI1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MRI1
    QuantiTect SYBR Green Assays in human, mouse, rat MRI1
    QuantiFast Probe-based Assays in human, mouse, rat MRI1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRI1

    (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 eukaryotes.

    Orthologs for MRI1 gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mri11 , 5 methylthioribose-1-phosphate isomerase homolog (S. more1, 5 83.92(n)1
    86.38(a)1
      8 (40.74 cM)5
    678731  NM_026423.41  NP_080699.31 
     842499065 
    lizard
    (Anolis carolinensis)
    Reptilia MRI16
    methylthioribose-1-phosphate isomerase 1
    74(a)
    1 ↔ 1
    3(27485312-27496564)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.158012 Xenopus laevis transcribed sequence with weak similarity more 76.79(n)    BX854398.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mri11 methylthioribose-1-phosphate isomerase homolog (S. more 68.59(n)
    69.74(a)
      100002302  NM_001111238.1  NP_001104708.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG113341 CG11334 61.72(n)
    60.5(a)
      43713  NM_001276215.1  NP_001263144.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_C01G10.91 CELE_C01G10.9 48.63(n)
    45.29(a)
      180016  NM_074313.6  NP_506714.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MRI1(YPR118W)4
    MRI11
    5'-methylthioribose-1-phosphate isomerase; catalyzes more4
    MRI11
    49.61(n)1
    49.11(a)1
      16(767752-768987)4
    8562341, 4  NP_015443.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G058301 AT2G05830 55.36(n)
    59(a)
      815134  NM_126596.3  NP_027726.1 
    rice
    (Oryza sativa)
    Liliopsida Os11g02169001 Os11g0216900 54.13(n)
    56.27(a)
      4350083  NM_001074043.1  NP_001067511.1 


    ENSEMBL Gene Tree for MRI1 (if available)
    TreeFam Gene Tree for MRI1 (if available)

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

    (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 MRI1 (see all 284)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs81036731,2
    C,F--13874633(+) gctggG/Cactac 2 -- us2k13Minor allele frequency- C:0.50WA CSA 6
    rs1905743821,2
    C--13874688(+) GAGACG/TGGGTT 2 -- us2k10--------
    rs1499345111,2
    --13874701(+) ACCATC/GTTGGC 2 -- us2k10--------
    rs1835774161,2
    --13874790(+) CACAGC/TGCCTG 2 -- us2k10--------
    rs1129082201,2
    C--13874898(+) ACCTT-/GGAGAA
            
    GGAAG
    2 -- cds11Minor allele frequency- GGAGAA:0.50CSA 2
    rs578131901,2
    C--13874901(+) TTGGA-/GAAGGA
            
    AGATC
    2 -- cds10--------
    rs1464733381,2
    C--13874982(+) AGCAGA/GTTGTT 2 -- us2k10--------
    rs1889105901,2
    --13875004(+) CTGGTA/GTCCAC 2 -- us2k10--------
    rs1932430501,2
    --13875046(+) GTTCCA/GAGGAG 2 -- us2k10--------
    rs1137171921,2
    F--13875138(+) TCCGCC/GTCCTG 2 -- us2k11Minor allele frequency- G:0.00CSA 1

    HapMap Linkage Disequilibrium report for MRI1 (13875337 - 13885096 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MRI1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833757CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MRI1
    DNA2.0 Custom Variant and Variant Library Synthesis for MRI1

    (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.)
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    OMIM gene information: 615105    OMIM disorders: --

    10 diseases for MRI1:    
    About MalaCards
    spinal cord melanoma    visual agnosia    gemistocytic astrocytoma    wernicke encephalopathy
    cavernous hemangioma    agnosia    hemangioma    astrocytoma
    melanoma    malaria

    2 diseases from the University of Copenhagen DISEASES database for MRI1:
    Cavernous hemangioma     Visual agnosia

    MRI1 for disorders           About GeneDecksing


    Export disorders for MRI1 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 MRI1 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with MRI1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mediator of Rho-dependent invasion moonlights as a methionine salvage enzyme. (PubMed id 19620624)1, 2, 3 Kabuyama Y.... Ahn N.G. (Mol. Cell. Proteomics 2009)
    2. Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain. (PubMed id 23124037)1, 3 Sunker A. and Alkuraya F.S. (Gene 2013)
    3. Crystal structure of yeast Ypr118w, a methylthioribose-1-phosphate isomerase related to regulatory eIF2B subunits. (PubMed id 15215245)1, 3 Bumann M....Baumann U. (J. Biol. Chem. 2004)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    5. Structure of mediator of RhoA-dependent invasion (MRDI) explains its dual function as a metabolic enzyme and a mediator of cell invasion. (PubMed id 23859498)1 Templeton P.D....Sousa M.C. (Biochemistry 2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    7. Shotgun proteomics and network analysis of ubiquitin-related proteins from human breast carcinoma epithelial cells. (PubMed id 21853274)1 Zhou J....Liang S. (Mol. Cell. Biochem. 2012)
    8. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (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: 84245 HGNC: 28469 AceView: MGC3207 Ensembl:ENSG00000037757 euGenes: HUgn84245
    ECgene: MRI1 Kegg: 84245 H-InvDB: MRI1

    (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 MRI1 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 MRI1 gene:
    Search GeneIP for patents involving MRI1

    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
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