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MIXL1 Gene

protein-coding   GIFtS: 50
GCID: GC01P226411

Mix Paired-Like Homeobox

(Previous names: Mix1 homeobox (Xenopus laevis)-like 1, Mix1 homeobox-like...)
  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
Mix Paired-Like Homeobox1 2     Mix1 Homeobox (Xenopus Laevis)-Like 11
MIXL2 3 5     Mix1 Homeobox-Like 1 (Xenopus Laevis)1
Homeodomain Protein MIX2 3     MILD12
Mix.1 Homeobox-Like Protein2 3     Homeobox Protein MIXL12
MIX1 Homeobox-Like Protein 12 3     Mix-Like Homeobox Protein 12
MIX2 5     hMix3

External Ids:    HGNC: 133631   Entrez Gene: 838812   Ensembl: ENSG000001851557   OMIM: 6098525   UniProtKB: Q9H2W23   

Export aliases for MIXL1 gene to outside databases

Previous GC identifers: GC01P222227 GC01P222818 GC01P223386 GC01P222718 GC01P224478 GC01P196928


(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 MIXL1 Gene:
Homeodomain proteins, such as MIXL1, are transcription factors that regulate cell fate during development (Hart et
al., 2005 (PubMed 15982639)).(supplied by OMIM, Mar 2008)

GeneCards Summary for MIXL1 Gene:
MIXL1 (Mix paired-like homeobox) is a protein-coding gene. Diseases associated with MIXL1 include uterine inversion, and vascular dementia. GO annotations related to this gene include RNA polymerase II core promoter proximal region sequence-specific DNA binding and protein homodimerization activity. An important paralog of this gene is GSC.

UniProtKB/Swiss-Prot: MIXL1_HUMAN, Q9H2W2
Function: Transcription factor that play a central role in proper axial mesendoderm morphogenesis and endoderm
formation. Required for efficient differentiation of cells from the primitive streak stage to blood, by acting
early in the recruitment and/or expansion of mesodermal progenitors to the hemangioblastic and hematopoietic
lineages. Also involved in the morphogenesis of the heart and the gut during embryogenesis. Acts as a negative
regulator of brachyury expression (By similarity)




(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_000001.11  NC_018912.2  NT_167186.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MIXL1 gene promoter:
         C/EBPbeta   Nkx2-5   POU6F1 (c2)   CUTL1   PPAR-gamma1   POU2F1   POU2F1a   POU2F1b   POU2F1c   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMIXL1 promoter sequence
   Search Chromatin IP Primers for MIXL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MIXL1


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

Entrez Gene cytogenetic band: 1q42.12   Ensembl cytogenetic band:  1q42.12   HGNC cytogenetic band: 1q42.12

MIXL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MIXL1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P226411:  view genomic region     (about GC identifiers)

Start:
226,411,319 bp from pter      End:
226,414,755 bp from pter
Size:
3,437 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: MIXL1_HUMAN, Q9H2W2 (See protein sequence)
Recommended Name: Homeobox protein MIXL1  
Size: 232 amino acids; 24659 Da

Explore the universe of human proteins at neXtProt for MIXL1: NX_Q9H2W2

Explore proteomics data for MIXL1 at MOPED

Post-translational modifications: 

  • Phosphorylated at multiple sites1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MIXL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001269331.1  NP_114150.1  

    ENSEMBL proteins: 
     ENSP00000442439   ENSP00000355775  

    MIXL1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MIXL1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MIXL1
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    Novus Biologicals MIXL1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MIXL1

    MIXL1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MIXL1
    R&D Systems Antibodies for MIXL1
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for MIXL1
    Novus Biologicals MIXL1 Antibody
    Search for Antibodies for MIXL1 at Abcam
    Cloud-Clone Corp. Antibodies for MIXL1
    Search ThermoFisher Antibodies for MIXL1
    LSBio Antibodies in human, mouse, rat for MIXL1

    MIXL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MIXL1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MIXL1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MIXL1
    Cloud-Clone Corp. CLIAs for MIXL1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PRD: Homeoboxes / PRD class

    3 InterPro protein domains:
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q9H2W2

    ProtoNet protein and cluster: Q9H2W2

    UniProtKB/Swiss-Prot: MIXL1_HUMAN, Q9H2W2
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    MIXL1 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: MIXL1_HUMAN, Q9H2W2
    Function: Transcription factor that play a central role in proper axial mesendoderm morphogenesis and endoderm
    formation. Required for efficient differentiation of cells from the primitive streak stage to blood, by acting
    early in the recruitment and/or expansion of mesodermal progenitors to the hemangioblastic and hematopoietic
    lineages. Also involved in the morphogenesis of the heart and the gut during embryogenesis. Acts as a negative
    regulator of brachyury expression (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding ISS--
    GO:0000980RNA polymerase II distal enhancer sequence-specific DNA binding ISS--
    GO:0000987core promoter proximal region sequence-specific DNA binding ISS--
    GO:0001071nucleic acid binding transcription factor activity ----
    GO:0001077RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription ISS--
         
    MIXL1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MIXL1:
     Decreased viability of wild-ty  Increased gamma-H2AX phosphory 

         6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Mixl1):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  mortality/aging 
     no phenotypic analysis 

    MIXL1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MIXL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MIXL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MIXL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MIXL1

    miRNA
    Products:
        
    miRTarBase miRNAs that target MIXL1:
    hsa-mir-145-5p (MIRT021535)

    Block miRNA regulation of human, mouse, rat MIXL1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MIXL1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MIXL1
    Predesigned siRNA for gene silencing in human, mouse, rat MIXL1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MIXL1

    Clone
    Products:
         
    OriGene clones in human, mouse for MIXL1 (see all 6)
    OriGene ORF clones in mouse, rat for MIXL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MIXL1 (NM_031944)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MIXL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MIXL1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for MIXL1
    Browse ESI BIO Cell Lines and PureStem Progenitors for MIXL1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIXL1


    (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
    MIXL1_HUMAN, Q9H2W2: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    extracellular1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin ISS--
    GO:0005634nucleus ----

    MIXL1 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 MIXL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Cardiac Progenitor Differentiation
    Cardiac Progenitor Differentiation
    2Adipogenesis
    Adipogenesis


    2 BioSystems Pathways for MIXL1
        Adipogenesis
    Cardiac Progenitor Differentiation


        Pathway & Disease-focused RT2 Profiler PCR Arrays including MIXL1: 
              Cell Lineage Identification in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MIXL1

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

    Selected Interacting proteins for MIXL1 (Q9H2W23 ENSP000003557754) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEUROD1Q135623, ENSP000002951084I2D: score=1 STRING: ENSP00000295108
    NKX2-1P436993, ENSP000003468794I2D: score=1 STRING: ENSP00000346879
    ALX4Q9H1613I2D: score=1 
    DLX1P561773I2D: score=1 
    GTF2E1P290833I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001706endoderm formation ----
    GO:0002244hematopoietic progenitor cell differentiation ISS--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007369gastrulation ISS--
    GO:0007492endoderm development ISS--

    MIXL1 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 MIXL1



    (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 MIXL1 gene (2 alternative transcripts): 
    NM_001282402.1  NM_031944.2  

    Unigene Cluster for MIXL1:

    Mix paired-like homeobox
    Hs.282079  [show with all ESTs]
    Unigene Representative Sequence: DR156764
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000542034 ENST00000366810(uc010pvm.2) ENST00000557734
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MIXL1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MIXL1
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MIXL1
    Predesigned siRNA for gene silencing in human, mouse, rat MIXL1
    Clone
    Products:
         
    OriGene clones in human, mouse for MIXL1 (see all 6)
    OriGene ORF clones in mouse, rat for MIXL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MIXL1 (NM_031944)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MIXL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MIXL1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MIXL1
    OriGene qSTAR qPCR primer pairs in human, mouse for MIXL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MIXL1
      QuantiTect SYBR Green Assays in human, mouse, rat MIXL1
      QuantiFast Probe-based Assays in human, mouse, rat MIXL1

    Additional mRNA sequence: 

    AF211891.1 BC111974.1 BC113441.1 BC143784.1 

    3 DOTS entries:

    DT.40248448  DT.40261413  DT.75140065 

    9 AceView cDNA sequences:

    NM_031944 BE552088 AF211891 BF513622 AA847809 AI654861 BI839065 BG197419 
    AA911377 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for MIXL1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b
    SP1:                        
    SP2:                        


    ECgene alternative splicing isoforms for MIXL1

    (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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    MIXL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGGAACAC
    MIXL1 Expression
    About this image


    MIXL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Primitive Streak (Early Embryonic Tissues)    fully expand to see all 13 entries
             Primitive Streak Cells Anterior Primitive Streak
             Posterior primitive streak cells
     
     Endoderm (Gastrulation Derivatives)    fully expand to see all 5 entries
             Mesendoderm Cells Anterior Primitive Streak
             Endoderm-like cells
     
     Mesoderm (Gastrulation Derivatives)    fully expand to see all 4 entries
             Mesendoderm Cells Anterior Primitive Streak
             Mesoderm-like cells
     
     Gut Tube (Gastrointestinal Tract)
             Primitive Gut Endoderm Cells Gut Tube
     
     Epiblast (Early Embryo)
             Primitive Streak Cells Anterior Primitive Streak
    MIXL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MIXL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.282079

    UniProtKB/Swiss-Prot: MIXL1_HUMAN, Q9H2W2
    Tissue specificity: Restricted to progenitors and secondary lymph tissues. In normal hematopoiesis, it is
    restricted to immature B- and T-lymphoid cells. Present in differentiating embryonic stem cells (at protein
    level)

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MIXL1: 
              Cell Lineage Identification in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MIXL1
    OriGene qSTAR qPCR primer pairs in human, mouse for MIXL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MIXL1
    QuantiTect SYBR Green Assays in human, mouse, rat MIXL1
    QuantiFast Probe-based Assays in human, mouse, rat MIXL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIXL1

    (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 MIXL1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mixl11 , 5 Mix1 homeobox-like 1 (Xenopus laevis)1, 5 74.64(n)1
    70(a)1
      1 (84.46 cM)5
    272171  NM_013729.31  NP_038757.11 
     1806930435 
    lizard
    (Anolis carolinensis)
    Reptilia MIXL16
    Mix paired-like homeobox
    29(a)
    1 ↔ 1
    GL343470.1(574603-577123)
    zebrafish
    (Danio rerio)
    Actinopterygii bon6
    bon6
    bonnie and clyde
    19(a)
    19(a)
    1 ↔ many
    1 ↔ many
    20(43746920-43755623) ENSDARG00000069252
    20(44305635-44312494) ENSDARG00000009737
    fruit fly
    (Drosophila melanogaster)
    Insecta repo6
    reversed polarity
    8(a)
    many ↔ many
    3R(14061916-14065324)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-546
    Protein CEH-54 (ceh-54) mRNA, complete cds
    20(a)
    many ↔ many
    X(6191590-6192948) WBGene00020485


    ENSEMBL Gene Tree for MIXL1 (if available)
    TreeFam Gene Tree for MIXL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MIXL1 gene
    GSC2  PITX12  OTX22  UNCX2  VSX12  HESX12  PITX22  VSX22  
    PROP12  PITX32  DMBX12  GSC22  CRX2  OTX12  
    2 SIMAP similar genes for MIXL1 using alignment to 2 protein entries:     MIXL1_HUMAN (see all proteins):
    RAX2    GSC2

    MIXL1 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 MIXL1 (see all 84)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1388539701,2
    --226409402(+) CACCAC/TGCCCG 1 -- us2k10--------
    rs612115901,2
    F--226409407(+) CGCCCG/AGCTAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs716550121,2
    C--226409419(+) AATTG-/TTTA  
            
    TTTAT
    1 -- us2k10--------
    rs2016698041,2
    C--226409419(+) AATTG-/TTTA  
            
    TTTAT
    1 -- us2k10--------
    rs115903341,2
    C,H--226409422(+) TGTTTA/GTTTAT 1 -- us2k10--------
    rs115903361,2
    H--226409426(+) tatttA/Gtttat 1 -- us2k10--------
    rs558520361,2
    C--226409458(+) TATTT-/ATTT/AT
    TTATTTATTT
    TGAGA
    2 -- us2k1 cds11NA 2
    rs12196561,2
    C,H--226409604(-) AGCCGG/AGCATG 1 -- us2k15Minor allele frequency- A:0.00NA 10
    rs1834845311,2
    --226409640(+) GAGACA/GGGGTT 1 -- us2k10--------
    rs12196551,2
    C,H--226409751(-) CATCCG/ATTGGC 1 -- us2k111Minor allele frequency- A:0.00NA WA CSA EA 372

    HapMap Linkage Disequilibrium report for MIXL1 (226411319 - 226414755 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MIXL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv873233CNV Loss21882294
    nsv832759CNV Loss17160897
    nsv517107CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MIXL1
    DNA2.0 Custom Variant and Variant Library Synthesis for MIXL1

    (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: 609852    OMIM disorders: --

    7 diseases for MIXL1:    
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    uterine inversion    vascular dementia    dementia    cholera
    hodgkin's lymphoma    pancreatitis    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for MIXL1:
    Vascular dementia     Cholera     Uterine inversion

    MIXL1 for disorders           About GeneDecksing


    Export disorders for MIXL1 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 MIXL1 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with MIXL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human Mix-like homeobox gene MIXL shows functional similarity to Xenopus Mix.1. (PubMed id 12070013)1, 2, 3 Guo W....Nagarajan L. (Blood 2002)
    2. Differential expression of the human MIXL1 gene product in non- Hodgkin and Hodgkin lymphomas. (PubMed id 17303500)1, 2 Drakos E....Nagarajan L. (Hum. Pathol. 2007)
    3. Structure, upstream promoter region, and functional domains of a mouse and human Mix paired-like homeobox gene. (PubMed id 12095687)1, 3 Sahr K....Baron M.H. (Gene 2002)
    4. The global gene-expression profiles of U-937 human macrophages treated with Tat peptide and Tat-FITC conjugate. (PubMed id 22632162)1 Lin C.W....Jan M.S. (J Drug Target 2012)
    5. Brachyury and related Tbx proteins interact with the Mixl1 homeodomain protein and negatively regulate Mixl1 transcriptional activity. (PubMed id 22164283)1 Pereira L.A....Elefanty A.G. (PLoS ONE 2011)
    6. Genome-scale RNAi screen for host factors required for HIV replication. (PubMed id 18976975)1 Zhou H....Espeseth A.S. (amp 2008)
    7. Targeting a GFP reporter gene to the MIXL1 locus of human embryonic stem cells identifies human primitive streak-like cells and enables isolation of primitive hematopoietic precursors. (PubMed id 18032708)1 Davis R.P....Stanley E.G. (Blood 2008)
    8. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)
    9. Amino terminal tyrosine phosphorylation of human MIXL1. (PubMed id 17224082)2 Guo W. and Nagarajan L. (J. Mol. Signal. 2006)
    10. Mixl1 and oct4 proteins are transiently co-expressed in differentiating mouse and human embryonic stem cells. (PubMed id 16433620)2 Mossman A.K.... Elefanty A.G. (Stem Cells Dev. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 83881 HGNC: 13363 AceView: MIXL1 Ensembl:ENSG00000185155 euGenes: HUgn83881
    ECgene: MIXL1 H-InvDB: MIXL1

    (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 MIXL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MIXL1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MIXL1 gene:
    Search GeneIP for patents involving MIXL1

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



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