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MXD1 Gene

protein-coding   GIFtS: 58
GCID: GC02P070124

MAX Dimerization Protein 1


(Previous symbol: MAD)
Microbiology & Infectious Diseases Congress
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(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
MAX Dimerization Protein 11 2     MAD12
MAD1 2 3 5     Antagonizer Of Myc Transcriptional Activity2
Max Dimerizer 12 3     MAX-Binding Protein2
BHLHC582     Protein MAD3

External Ids:    HGNC: 67611   Entrez Gene: 40842   Ensembl: ENSG000000597287   OMIM: 6000215   UniProtKB: Q051953   

Export aliases for MXD1 gene to outside databases

Previous GC identifers: GC02P070054 GC02P069995 GC02P069878


(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 MXD1 Gene:
This gene encodes a member of the MYC/MAX/MAD network of basic helix-loop-helix leucine zipper transcription
factors. The MYC/MAX/MAD transcription factors mediate cellular proliferation, differentiation and apoptosis. The
encoded protein antagonizes MYC-mediated transcriptional activation of target genes by competing for the binding
partner MAX and recruiting repressor complexes containing histone deacetylases. Mutations in this gene may play a
role in acute leukemia, and the encoded protein is a potential tumor suppressor. Alternatively spliced transcript
variants encoding multiple isoforms have been observed for this gene. (provided by RefSeq, Feb 2011)

GeneCards Summary for MXD1 Gene:
MXD1 (MAX dimerization protein 1) is a protein-coding gene. Diseases associated with MXD1 include acute leukemia, and miller-dieker syndrome. GO annotations related to this gene include protein dimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MXI1.

UniProtKB/Swiss-Prot: MAD1_HUMAN, Q05195
Function: Transcriptional repressor. MAD binds with MAX to form a sequence-specific DNA-binding protein complex
which recognizes the core sequence 5'-CAC[GA]TG-3'. MAD thus antagonizes MYC transcriptional activity by
competing for MAX

Gene Wiki entry for MXD1 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_000002.12  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the MXD1 gene promoter:
         CREB   Max   Sp1   deltaCREB   MyoD   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMXD1 promoter sequence
   Search Chromatin IP Primers for MXD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MXD1


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

Entrez Gene cytogenetic band: 2p13-p12   Ensembl cytogenetic band:  2p13.3   HGNC cytogenetic band: 2p13-p12

MXD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MXD1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P070124:  view genomic region     (about GC identifiers)

Start:
70,124,820 bp from pter      End:
70,170,077 bp from pter
Size:
45,258 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: MAD1_HUMAN, Q05195 (See protein sequence)
Recommended Name: Max dimerization protein 1  
Size: 221 amino acids; 25254 Da
Subunit: Efficient DNA binding requires dimerization with another bHLH protein. Binds DNA as a heterodimer with
MAX. Interacts with RNF17 (By similarity)
5 PDB 3D structures from and Proteopedia for MXD1:
1E91 (3D)        1G1E (3D)        1NLW (3D)        1PD7 (3D)        1S5Q (3D)    
Secondary accessions: B2R6V8 B7ZLI6 D6W5G2 Q6FI41
Alternative splicing: 2 isoforms:  Q05195-1   Q05195-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MXD1: NX_Q05195

Explore proteomics data for MXD1 at MOPED

Post-translational modifications: 

  • Ubiquitinated by BIRC2/c-IAP1, leading to its subsequent degradation by the proteasome1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MXD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001189442.1  NP_001189443.1  NP_002348.1  

    ENSEMBL proteins: 
     ENSP00000410672   ENSP00000264444   ENSP00000386523   ENSP00000443935  

    MXD1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for MXD1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MXD: MAX dimerization proteins
    bHLH: Basic helix-loop-helix proteins

    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q05195

    ProtoNet protein and cluster: Q05195

    1 Blocks protein domain: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: MAD1_HUMAN, Q05195
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    MXD1 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: MAD1_HUMAN, Q05195
    Function: Transcriptional repressor. MAD binds with MAX to form a sequence-specific DNA-binding protein complex
    which recognizes the core sequence 5'-CAC[GA]TG-3'. MAD thus antagonizes MYC transcriptional activity by
    competing for MAX

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity TAS7829091
    GO:0003712transcription cofactor activity TAS7829091
    GO:0003714transcription corepressor activity TAS8425218
    GO:0046983protein dimerization activity IEA--
         
    MXD1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mxd1):
     hematopoietic system  immune system 

    MXD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mxd1tm1Rne for MXD1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MXD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MXD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MXD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MXD1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MXD1:
    hsa-mir-335-5p (MIRT017596), hsa-mir-138-5p (MIRT006866)

    Block miRNA regulation of human, mouse, rat MXD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MXD1 (see all 139):
    hsa-miR-106a hsa-miR-938 hsa-miR-3921 hsa-miR-519a hsa-miR-149 hsa-miR-3170 hsa-miR-3649 hsa-miR-642b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MXD1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MXD1

    Clone
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    OriGene clones in human, mouse for MXD1 (see all 6)
    OriGene ORF clones in mouse, rat for MXD1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): MXD1 (NM_001202513)
    Sino Biological Human cDNA Clone for MXD1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MXD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MXD1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for MXD1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MXD1


    (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
    MAD1_HUMAN, Q05195: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion4
    cytosol3
    extracellular1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion ----

    MXD1 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 MXD1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ca-dependent events
    Development Role of Activin A in cell differentiation and proliferation0.32
    2Signaling events mediated by HDAC Class I
    Signaling events mediated by HDAC Class I
    3Regulation of Telomerase
    Regulation of Telomerase
    4Apoptosis and Autophagy
    Apoptosis and Autophagy

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for MXD1
        Apoptosis and Autophagy

    1 GeneGo (Thomson Reuters) Pathway for MXD1
        Development Role of Activin A in cell differentiation and proliferation

    2 BioSystems Pathways for MXD1
        Signaling events mediated by HDAC Class I
    Regulation of Telomerase




    MXD1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MXD1
    Interactions:

        GeneGlobe Interaction Network for MXD1

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

    Selected Interacting proteins for MXD1 (Q051953 ENSP000002644444) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMC3Q9UQE73, ENSP000003547204I2D: score=3 STRING: ENSP00000354720
    SAP30O754463, ENSP000002965044I2D: score=2 STRING: ENSP00000296504
    CD2P067293, ENSP000003584904I2D: score=1 STRING: ENSP00000358490
    MLXQ9UH923, ENSP000002469124I2D: score=1 STRING: ENSP00000246912
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0007275multicellular organismal development TAS7829091
    GO:0008283cell proliferation TAS7829091

    MXD1 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 MXD1 (MAD1)

    3 Novoseek inferred chemical compound relationships for MXD1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 45.3 4 9399572 (1), 20170194 (1), 17577784 (1)
    retinoic acid 9.54 1 17938259 (1)
    forskolin 4.16 5 9886493 (3), 10849366 (1)



    MXD1 for compounds           About GeneDecksing



    (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 MXD1 gene (3 alternative transcripts): 
    NM_001202513.1  NM_001202514.1  NM_002357.3  

    Unigene Cluster for MXD1:

    MAX dimerization protein 1
    Hs.468908  [show with all ESTs]
    Unigene Representative Sequence: NM_002357
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000435990 ENST00000264444(uc010yqp.2 uc002sfy.3 uc010yqs.2 uc010yqq.2 uc010yqr.2)
    ENST00000409442 ENST00000410000 ENST00000465446 ENST00000540449
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MXD1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MXD1 (see all 139):
    hsa-miR-106a hsa-miR-938 hsa-miR-3921 hsa-miR-519a hsa-miR-149 hsa-miR-3170 hsa-miR-3649 hsa-miR-642b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for MXD1
    OriGene qSTAR qPCR primer pairs in human, mouse for MXD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MXD1
      QuantiTect SYBR Green Assays in human, mouse, rat MXD1
      QuantiFast Probe-based Assays in human, mouse, rat MXD1

    Additional mRNA sequence: 

    AK312734.1 AL832111.1 BC036402.2 BC051693.1 BC069377.1 BC069433.1 BC098396.1 BC113531.1 
    BC117260.1 BC143831.1 BC143832.1 BC144601.1 CR536495.1 CR541692.1 L06895.1 

    11 DOTS entries:

    DT.92005683  DT.111709  DT.453392  DT.95113945  DT.95096959  DT.120943379  DT.95237519  DT.100670791 
    DT.100835216  DT.100668308  DT.95087240 

    Selected AceView cDNA sequences (see all 305):

    CR591484 CR536495 BE857484 BX089768 BG252325 BQ271787 AI652379 AW237669 
    AI356638 CF891033 BU074933 BE858684 BI715440 CR623125 BU164850 BU175562 
    AA765799 BI754822 AV709820 AI203363 BM745205 AI358518 CR617839 BQ214057 

    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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    MXD1 expression in normal human tissues (normalized intensities)      MXD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTAGAGAA
    MXD1 Expression
    About this image


    MXD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Ovary (Reproductive System)
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
    MXD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MXD1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.468908
        Custom PCR Arrays for MXD1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MXD1

    (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 MXD1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mxd11 , 5 MAX dimerization protein 11, 5 82.19(n)1
    87.67(a)1
      6 (37.75 cM)5
    171191  NM_010751.31  NP_034881.21 
     866470445 
    chicken
    (Gallus gallus)
    Aves MXD11 MAX dimerization protein 1 70.86(n)
    71.86(a)
      426299  NM_001039310.1  NP_001034399.1 
    lizard
    (Anolis carolinensis)
    Reptilia MXD16
    MAX dimerization protein 1
    80(a)
    1 ↔ 1
    GL343662.1(6233-21570)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017305411 max dimerization protein 1-like 74.43(n)
    81.07(a)
      101730541  XM_004913116.1  XP_004913173.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mxd11 MAX dimerization protein 1 70.67(n)
    76.5(a)
      570082  XM_693515.3  XP_698607.2 
    worm
    (Caenorhabditis elegans)
    Secernentea mdl-16
    Protein MDL-1 (mdl-1) mRNA, complete cds
    23(a)
    1 → many
    X(6742393-6743902) WBGene00003163


    ENSEMBL Gene Tree for MXD1 (if available)
    TreeFam Gene Tree for MXD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MXD1 gene
    MXI12  MXD32  MXD42  
    5 SIMAP similar genes for MXD1 using alignment to 4 protein entries:     MAD1_HUMAN (see all proteins):
    MXI1    FLJ00110    MXD4    MXD3    MAX

    MXD1 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 MXD1 (see all 587)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs8971221,2
    C,F,O,A,H--70140271(+) TAAACT/CACCTT 3 -- us2k120Minor allele frequency- C:0.40NA MN WA CSA EA 914
    rs1423875841,2
    --70140292(+) AACTAC/TCAACA 3 -- us2k10--------
    rs1827606621,2
    --70140375(+) ACAGGA/GAAAAT 3 -- us2k10--------
    rs1891907611,2
    --70140410(+) TTCTTC/TACGTG 3 -- us2k10--------
    rs1148679351,2
    C,F--70140759(+) ACCACC/ACCATG 3 -- us2k11Minor allele frequency- A:0.07NA 120
    rs1459438301,2
    --70140778(+) CACAAC/TTTGCA 3 -- us2k10--------
    rs1398419901,2
    --70140786(+) GCAGAC/TGTCTT 3 -- us2k10--------
    rs1930576601,2
    C--70140943(+) TTAGCA/CGGGCG 3 -- us2k10--------
    rs1846697991,2
    --70141029(+) TTGCAA/GTGAGC 3 -- us2k10--------
    rs65465571,2
    C,F,A,H--70141146(+) AGGGAG/AGGGAA 3 -- us2k1 tfbs3 trp310Minor allele frequency- A:0.12NS EA NA WA 1210

    HapMap Linkage Disequilibrium report for MXD1 (70124820 - 70170077 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MXD1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834254CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MXD1
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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.)
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    OMIM gene information: 600021    OMIM disorders: --

    16 diseases for MXD1:    About MalaCards
    acute leukemia    miller-dieker syndrome    williams-beuren syndrome    teratocarcinoma
    leukemia    tonsillitis    neuroblastoma    melanoma
    lung cancer    prostate cancer    prostatitis    adenocarcinoma
    thyroiditis    cerebritis    breast cancer    endotheliitis


    MXD1 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for MXD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 22.1 6 10738221 (1), 18493233 (1), 9824157 (1), 18451027 (1) (see all 5)
    tumors 17.3 19 17674037 (3), 17998413 (2), 10738221 (2), 8290278 (2) (see all 10)
    glioblastoma 10.2 2 7613518 (2)
    leukemia 0 1 7829091 (1)
    carcinoma squamous cell 0 2 8645578 (1), 12747968 (1)

    Genetic Association Database (GAD): MXD1
    Human Genome Epidemiology (HuGE) Navigator: MXD1 (1 document)

    Export disorders for MXD1 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 MXD1 gene, integrated from 10 sources (see all 126):
    (articles sorted by number of sources associating them with MXD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Assignment of the human MAD and MXI1 genes to chromosomes 2p12-p13 and 10q24-q25. (PubMed id 7829091)1, 3, 9 Shapiro D.N....Prochownik E.V. (Genomics 1994)
    2. c-IAP1 cooperates with Myc by acting as a ubiquitin ligase for Mad1. (PubMed id 18082613)1, 2, 9 Xu L....Yuan J. (Mol. Cell 2007)
    3. Mad: a heterodimeric partner for Max that antagonizes Myc transcriptional activity. (PubMed id 8425218)1, 2, 9 Ayer D.E.... Eisenman R.N. (Cell 1993)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    5. 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. (Genome Res. 2004)
    6. Mad1 expression in the absence of differentiation: effect of cAMP on the B-lymphoid cell line Reh. (PubMed id 9886493)1, 9 Naderi S. and Blomhoff H.K. (J. Cell. Physiol. 1999)
    7. Activation of PI3K/Akt and MAPK pathways regulates Myc-mediated transcription by phosphorylating and promoting the degradation of Mad1. (PubMed id 18451027)1, 9 Zhu J....Yuan J. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    8. Effect of the transcriptional repressor Mad1 on proliferation of human melanoma cells. (PubMed id 12366697)1, 9 Ohta Y....Katsuoka K. (Exp. Dermatol. 2002)
    9. TGF-beta enforces senescence in Myc-transformed hematopoietic tumor cells through induction of Mad1 and repression of Myc activity. (PubMed id 19766114)1, 9 Wu S....Larsson L.G. (Exp. Cell Res. 2009)
    10. The suppression of MAD1 by AKT-mediated phosphorylation activates MAD1 target genes transcription. (PubMed id 19526459)1, 9 Chou C.K....Hung M.C. (Mol. Carcinog. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4084 HGNC: 6761 AceView: MADandRY1 Ensembl:ENSG00000059728 euGenes: HUgn4084
    ECgene: MXD1 H-InvDB: MXD1

    (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 MXD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MXD1 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

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    Patent Information for MXD1 gene:
    Search GeneIP for patents involving MXD1

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



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