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

MR1 Gene

protein-coding   GIFtS: 56
GCID: GC01P181003

Major Histocompatibility Complex, Class I-Related

(Previous names: major histocompatibility complex, class I-like sequence)
(Previous symbol: HLALS)
Microbiology & Infectious Diseases Congress
  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
Major Histocompatibility Complex, Class I-Related1 2     MHC Class I-Related Gene Protein2 3
HLALS1 2 5     Major Histocompatibility Complex Class I-Related Gene Protein2
Major Histocompatibility Complex, Class I-Like Sequence1 2     MHC Class I-Like Antigen MR-12
Class I Histocompatibility Antigen-Like Protein2 3     MHC Class-I Related-Gene Protein2

External Ids:    HGNC: 49751   Entrez Gene: 31402   Ensembl: ENSG000001530297   OMIM: 6007645   UniProtKB: Q954603   

Export aliases for MR1 gene to outside databases

Previous GC identifers: GC01P176431 GC01P177523 GC01P178242 GC01P177734 GC01P179269 GC01P152233


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

GeneCards Summary for MR1 Gene: 
MR1 (major histocompatibility complex, class I-related) is a protein-coding gene. Diseases associated with MR1 include klebsiella, and hemochromatosis. GO annotations related to this gene include MHC class I receptor activity. An important paralog of this gene is HLA-F.

UniProtKB/Swiss-Prot: HMR1_HUMAN, Q95460
Function: Has antigen presentation function. Involved in the development and expansion of a small population of
T-cells expressing an invariant T-cell receptor alpha chain called mucosal-associated invariant T-cells (MAIT).
MAIT cells are preferentially located in the gut lamina propria and therefore may be involved in monitoring
commensal flora or serve as a distress signal. Expression and MAIT cell recognition seem to be ligand-dependent

Gene Wiki entry for MR1 (Major histocompatibility complex, class I-related) 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_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MR1 gene promoter:
         RFX1   ISGF-3   Elk-1   AML1a   FOXL1   GATA-1   Roaz   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MR1


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

Entrez Gene cytogenetic band: 1q25.3   Ensembl cytogenetic band:  1q25.3   HGNC cytogenetic band: 1q25.3

MR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MR1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P181003:  view genomic region     (about GC identifiers)

Start:
181,002,561 bp from pter      End:
181,031,074 bp from pter
Size:
28,514 bases      Orientation:
plus 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: HMR1_HUMAN, Q95460 (See protein sequence)
Recommended Name: Major histocompatibility complex class I-related gene protein precursor  
Size: 341 amino acids; 39366 Da
Subunit: Heterodimerizes with B2M, this interaction is required for surface expression. Associated with the
peptide-loading complex, TAPBP, CALR and PDIA3
Subcellular location: Cell membrane; Single-pass membrane protein; Extracellular side. Endoplasmic reticulum
Subcellular location: Isoform 4: Secreted
Miscellaneous: MR1 is detected in an open versus folded conformation. Only the folded MR1 conformer activates MAIT
cells
Sequence caution: Sequence=AAD01443.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for MR1:
4GUP (3D)    
Secondary accessions: A8K2V9 B4E3B1 O97985 O97986 Q53GM1 Q95HB8 Q9NPL2 Q9TQB9 Q9TQK3
Alternative splicing: 5 isoforms:  Q95460-1   Q95460-2   Q95460-3   Q95460-4   Q95460-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MR1: NX_Q95460

Explore proteomics data for MR1 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q95460

  • MR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MR1 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001181928.1  NP_001181929.1  NP_001181964.1  NP_001522.1  

    ENSEMBL proteins: 
     ENSP00000356551   ENSP00000282990   ENSP00000356552   ENSP00000388504  

    Human Recombinant Protein Products for MR1: 
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    OriGene Protein Over-expression Lysate for MR1
    OriGene MassSpec for MR1 
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    GenScript Custom Purified and Recombinant Proteins Services for MR1
    Novus Biologicals MR1 Protein
    Novus Biologicals MR1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MR1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005783endoplasmic reticulum IDA--
    GO:0005886plasma membrane IBA--
    GO:0016021integral to membrane IEA--
    GO:0042612MHC class I protein complex IEA--

    MR1 for ontologies           About GeneDecksing



    MR1 Antibody Products: 
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    Novus Biologicals MR1 Antibodies
    Abcam antibodies for MR1
    Cloud-Clone Corp. Antibodies for MR1 
    Search ThermoFisher Antibodies for MR1
    LSBio Antibodies in human, mouse, rat for MR1 

    Assay Products for MR1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MR1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MR1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MR1 
    Cloud-Clone Corp. CLIAs for MR1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    C1SET: Immunoglobulin superfamily / C1-set domain containing

    5/7 InterPro protein domains (see all 7):
     IPR011162 MHC_I/II-like_Ag-recog
     IPR013783 Ig-like_fold
     IPR003597 Ig_C1-set
     IPR007110 Ig-like_dom
     IPR003006 Ig/MHC_CS

    Graphical View of Domain Structure for InterPro Entry Q95460

    ProtoNet protein and cluster: Q95460

    2 Blocks protein domains:
    IPB001039 MHC class I signature
    IPB003597 Immunoglobulin C-type


    UniProtKB/Swiss-Prot: HMR1_HUMAN, Q95460
    Domain: The alpha-3 region and to a lesser extent the transmembrane and cytosolic domains regulate surface
    expression
    Similarity: Belongs to the MHC class I family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    MR1 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: HMR1_HUMAN, Q95460
    Function: Has antigen presentation function. Involved in the development and expansion of a small population of
    T-cells expressing an invariant T-cell receptor alpha chain called mucosal-associated invariant T-cells (MAIT).
    MAIT cells are preferentially located in the gut lamina propria and therefore may be involved in monitoring
    commensal flora or serve as a distress signal. Expression and MAIT cell recognition seem to be ligand-dependent

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003823antigen binding IBA--
    GO:0005515protein binding ----
    GO:0032393MHC class I receptor activity TAS7624800
    GO:0042605peptide antigen binding IEA--
         
    MR1 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for MR1:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Decreased p24 protein expressi 
     Upregulation of Wnt/beta-caten 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mr1):
     hematopoietic system  immune system 

    MR1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mr1tm1Gfn for MR1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MR1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MR1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MR1
    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate MR1 (see all 38):
    hsa-miR-142-5p hsa-miR-3152-3p hsa-miR-376b hsa-miR-624 hsa-miR-877* hsa-miR-374c hsa-miR-3667-5p hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidMR1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    GenScript Custom all cDNA clones Services for MR1
    Sino Biological Human cDNA Clone for MR1
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    Sirion Biotech Customized lentivirus for stable overexpression of MR1 
                         Customized lentivirus expression plasmids for stable overexpression of MR1 

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    GenScript Custom overexpressing Cell Line Services for MR1
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MR1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MR1

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

    5/45 Interacting proteins for MR1 (ENSP000003565524) via UniProtKB, MINT, STRING, and/or I2D (see all 45)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B2MENSP000003408584STRING: ENSP00000340858
    ENSG00000206435ENSP000003729754STRING: ENSP00000372975
    ENSG00000206452ENSP000003832454STRING: ENSP00000383245
    ENSG00000206493ENSP000003730914STRING: ENSP00000373091
    ENSG00000206505ENSP000003731144STRING: ENSP00000373114
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001916positive regulation of T cell mediated cytotoxicity IEA--
    GO:0002367cytokine production involved in immune response IEA--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I IEA--
    GO:0006955immune response TAS7624800
    GO:0019882antigen processing and presentation IBA--

    MR1 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

    MR1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Enzo Life Sciences drugs & compounds for MR1

    Browse Tocris compounds for MR1 (HMR1)

    1 DrugBank Compound for MR1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Antithymocyte globulinrabbit ATG (see all 3)--targetantagonist12586600

    2 Novoseek inferred chemical compound relationships for MR1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron 30.3 1 10318901 (1)
    cysteine 16 2 9553154 (1), 18637944 (1)

    Search CenterWatch for drugs/clinical trials and news about MR1 / HMR1

    (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 MR1 gene (4 alternative transcripts): 
    NM_001194999.1  NM_001195000.1  NM_001195035.1  NM_001531.2  

    Unigene Cluster for MR1:

    Major histocompatibility complex, class I-related
    Hs.13500  [show with all ESTs]
    Unigene Representative Sequence: NM_001531
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000486453 ENST00000367579 ENST00000282990 ENST00000367580(uc001gor.2 uc001goq.2 uc001gos.2 uc010pns.2)
    ENST00000438435 ENST00000367578(uc001gop.3) ENST00000434571
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MR1
    8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate MR1 (see all 38):
    hsa-miR-142-5p hsa-miR-3152-3p hsa-miR-376b hsa-miR-624 hsa-miR-877* hsa-miR-374c hsa-miR-3667-5p hsa-miR-3658
    SwitchGear 3'UTR luciferase reporter plasmidMR1 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 MR1 (see all 15)
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    GenScript Custom all cDNA clones Services for MR1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MR1
    Sirion Biotech Customized lentivirus for stable overexpression of MR1 
                         Customized lentivirus expression plasmids for stable overexpression of MR1 
    Primer
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    OriGene qPCR primer pairs and template standards for MR1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MR1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MR1

    Additional mRNA sequence: 

    AF010446.1 AF031469.1 AJ249778.1 AK056155.1 AK222910.1 AK290374.1 AK304645.1 BC012485.1 
    U22963.1 

    11 DOTS entries:

    DT.95165603  DT.308612  DT.204334  DT.97809461  DT.121423305  DT.40234682  DT.75100077  DT.121423325 
    DT.92008347  DT.95235900  DT.100688117 

    24/54 AceView cDNA sequences (see all 54):

    CF272318 CA454707 AA873499 AF010447 U22963 AF010446 AI554655 AI791364 
    BC012485 CA417322 AU132916 AI934604 CR602405 NM_001531 BV197815 BG547717 
    BX415555 BQ277360 BX115739 CB055274 BV197814 BV197816 CD688077 AU138140 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MR1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b
    SP1:                                                
    SP2:                          -                     
    SP3:                                                


    ECgene alternative splicing isoforms for MR1

    (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

    MR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAGAATGA
    MR1 Expression
    About this image


    See MR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MR1

    SOURCE GeneReport for Unigene cluster: Hs.13500

    UniProtKB/Swiss-Prot: HMR1_HUMAN, Q95460
    Tissue specificity: Ubiquitous

        SABiosciences Custom PCR Arrays for MR1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MR1

    (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 chordates.

    Orthologs for MR1 gene from 2/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mr11 , 5 major histocompatibility complex, class I-related1, 5 82.03(n)1
    77.71(a)1
      1 (66.45 cM)5
    150641  NM_008209.41  NP_032235.11 
     1551278785 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 20)
    Uncharacterized protein
    (see all 20)
    48(a)
    47(a)
    (see all 20)
    many ↔ many
    many ↔ many
    (see all 20)
    AAWZ02039289(774-2823)
    AAWZ02040156(3915-5955)


    ENSEMBL Gene Tree for MR1 (if available)
    TreeFam Gene Tree for MR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MR1 gene
    HLA-F2  FCGRT2  HFE2  HLA-B2  HLA-E2  HLA-C2  HLA-A2  HLA-G2  
    18/97 SIMAP similar genes for MR1 using alignment to 3 protein entries:     HMR1_HUMAN (see all proteins) (see all similar genes):
    HLA-Cw3    HLA-A null    HLA-A*03    FLJ45422    HLA-A*24    HLA-B*35JAC
    HLA-B27    B*15    B*35    EA1.2    HLA-All    HLA-B*0707
    HLA-B*2712    HLA-B*47RG    HLA-Cw*15P    HLA-DRB1    HFE    HLA-B*27

    MR1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MR1
    PGOHUM00000261314


    (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

    UniProtKB/Swiss-Prot: HMR1_HUMAN, Q95460
    Polymorphism: Several individuals from different ethnic background were analyzed for polymorphism. MR1 was
    identical in all individuals analyzed, except one. MR1 is not polymorphic


    10/712 SNPs in MR1 are shown (see all 712)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1134125191,2
    C,F--181000615(+) ATGCCC/GGGCCA 4 -- us2k13Minor allele frequency- G:0.14WA CSA 122
    rs1878012021,2
    C--181001174(+) CTCCCA/GAGTAG 4 -- us2k10--------
    rs1471411761,2
    --181001451(+) GAATTC/TCAGTG 4 -- us2k10--------
    rs1405816591,2
    --181001614(+) GGGCCA/GCTGAG 4 -- us2k10--------
    rs1931766331,2
    --181001634(+) AATGTA/TAATTT 4 -- us2k10--------
    rs1842218881,2
    C--181001677(+) AGGTAA/GACCTA 4 -- us2k10--------
    rs1873131091,2
    --181001861(+) TCTAGC/TTCTAG 4 -- us2k10--------
    rs1422296301,2
    C--181001877(+) ATCTGC/TGTTCC 4 -- us2k10--------
    rs1926193661,2
    --181001922(+) CACTCC/TGACCT 4 -- us2k10--------
    rs776968251,2
    F--181001926(+) CTGACC/GTTTGC 4 -- us2k11Minor allele frequency- G:0.03WA 118

    HapMap Linkage Disequilibrium report for MR1 (181002561 - 181031074 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MR1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv993520CNV Deletion20482838
    esv2719940CNV Deletion23290073
    nsv819813CNV Loss19587683


    Human Gene Mutation Database (HGMD): MR1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600764    OMIM disorders: --

    12 diseases for MR1:    About MalaCards
    klebsiella    hemochromatosis    primary biliary cirrhosis    primitive neuroectodermal tumor
    behcet's disease    influenza    thyroid cancer    pneumonia
    hepatitis b    thyroiditis    gastric cancer    hepatitis


    MR1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for MR1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hereditary hemochromatosis 67.6 1 10318901 (1)
    hemochromatosis 54.8 1 11941597 (1)

    Genetic Association Database (GAD): MR1
    Human Genome Epidemiology (HuGE) Navigator: MR1 (3 documents)

    Export disorders for MR1 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 MR1 gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with MR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A gene outside the human MHC related to classical HLA class I genes. (PubMed id 7624800)1, 2, 3, 9 Hashimoto K.... Kurosawa Y. (1995)
    2. Expanded genomic organization of conserved mammalian MHC class I- related genes, human MR1 and its murine ortholog. (PubMed id 9784382)1, 2, 3, 9 Yamaguchi H.... Hashimoto K. (1998)
    3. Novel MHC class I-related molecule MR1 affects MHC class I expression in 293T cells. (PubMed id 18068122)1, 2, 9 Aldemir H. (2008)
    4. Genomics, isoforms, expression, and phylogeny of the MHC class I- related MR1 gene. (PubMed id 9780177)1, 2, 9 Riegert P.... Bahram S. (1998)
    5. Biochemical features of the MHC-related protein 1 consistent with an immunological function. (PubMed id 12794138)1, 2, 9 Miley M.J....Lybarger L. (2003)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. A study on the polymorphism of human MHC class I-related MR1 gene and identification of an MR1-like pseudogene. (PubMed id 11019920)1, 2 Parra-Cuadrado J.F....Martinez-Naves E. (2000)
    8. A highly conserved major histocompatibility complex class I-related gene in mammals. (PubMed id 9325151)1, 9 Yamaguchi H....Hashimoto K. (1997)
    9. Human thymic MR1-restricted MAIT cells are innate path ogen-reactive effectors that adapt following thymic egress. (PubMed id 22692454)1 Gold M.C....Lewinsohn D.M. (2013)
    10. MR1B, a natural spliced isoform of the MHC-related 1 p rotein, is expressed as homodimers at the cell surface and activates MAIT cells. (PubMed id 23457030)1 Lion J....Treiner E. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3140 HGNC: 4975 AceView: MR1 Ensembl:ENSG00000153029 euGenes: HUgn3140
    ECgene: MR1 H-InvDB: MR1

    (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 MR1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MR1 gene:
    Search GeneIP for patents involving MR1

    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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