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MLXIPL Gene

protein-coding   GIFtS: 58
GCID: GC07M073007

MLX Interacting Protein-Like

(Previous name: Williams Beuren syndrome chromosome region 14)
(Previous symbol: WBSCR14)
  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
MLX Interacting Protein-Like1 2     MLX-Interacting Protein-Like2 3
WBSCR141 2 3 5     WS Basic-Helix-Loop-Helix Leucine Zipper Protein2 3
Williams Beuren Syndrome Chromosome Region 141 2     CHREBP2 5
Carbohydrate Response Element Binding Protein1 2     MONDOB2 5
Class D Basic Helix-Loop-Helix Protein 142 3     Carbohydrate-Responsive Element-Binding Protein2
MLX Interactor2 3     Williams-Beuren Syndrome Chromosome Region 14 Protein 12
Williams-Beuren Syndrome Chromosomal Region 14 Protein2 3     Williams-Beuren Syndrome Chromosome Region 14 Protein 22
MIO2 3     BHLHD143
WS-bHLH2 3     ChREBP3
bHLHd142 3     

External Ids:    HGNC: 127441   Entrez Gene: 510852   Ensembl: ENSG000000099507   OMIM: 6056785   UniProtKB: Q9NP713   

Export aliases for MLXIPL gene to outside databases

Previous GC identifers: GC07M072453 GC07M072645 GC07M068888


(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 MLXIPL Gene:
This gene encodes a basic helix-loop-helix leucine zipper transcription factor of the Myc/Max/Mad superfamily.
This protein forms a heterodimeric complex and binds and activates, in a glucose-dependent manner, carbohydrate
response element (ChoRE) motifs in the promoters of triglyceride synthesis genes. The gene is deleted in
Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at
chromosome 7q11.23. (provided by RefSeq, Jul 2008)

GeneCards Summary for MLXIPL Gene:
MLXIPL (MLX interacting protein-like) is a protein-coding gene. Diseases associated with MLXIPL include williams-beuren syndrome, and hepatocellular adenoma. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MLX.

UniProtKB/Swiss-Prot: MLXPL_HUMAN, Q9NP71
Function: Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By
similarity)

Gene Wiki entry for MLXIPL 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_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MLXIPL gene promoter:
         COUP-TF1   Max1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): MLXIPL promoter sequence
   Search Chromatin IP Primers for MLXIPL

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


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

Entrez Gene cytogenetic band: 7q11.23   Ensembl cytogenetic band:  7q11.23   HGNC cytogenetic band: 7q11.23

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

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M073007:  view genomic region     (about GC identifiers)

Start:
73,007,524 bp from pter      End:
73,038,873 bp from pter
Size:
31,350 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 72,340,596-72,371,942     

(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: MLXPL_HUMAN, Q9NP71 (See protein sequence)
Recommended Name: Carbohydrate-responsive element-binding protein  
Size: 852 amino acids; 93073 Da
Subunit: Binds DNA as a heterodimer with TCFL4/MLX
Secondary accessions: C5HU02 C5HU03 C5HU04 Q96E48 Q9BY03 Q9BY04 Q9BY05 Q9BY06 Q9Y2P3
Alternative splicing: 6 isoforms:  Q9NP71-1   Q9NP71-2   Q9NP71-3   Q9NP71-4   Q9NP71-5   Q9NP71-6   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for MLXIPL: NX_Q9NP71

Explore proteomics data for MLXIPL at MOPED

Post-translational modifications: 

  • Phosphorylation at Ser-556 by AMPK inactivates the DNA-binding activity (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_116569.1  NP_116570.1  NP_116571.1  NP_116572.1  

    ENSEMBL proteins: 
     ENSP00000412330   ENSP00000406296   ENSP00000343767   ENSP00000320886   ENSP00000346629  
     ENSP00000392636   ENSP00000395172   ENSP00000402615   ENSP00000378616  
    Reactome Protein details: Q9NP71

    MLXIPL Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for MLXIPL
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    Novus Biologicals MLXIPL Proteins
    Novus Biologicals MLXIPL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MLXIPL

    MLXIPL Antibody Products:

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    Abcam antibodies for MLXIPL
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    ThermoFisher Antibody for MLXIPL
    LSBio Antibodies in human, mouse, rat for MLXIPL

    MLXIPL Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MLXIPL
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MLXIPL
    Cloud-Clone Corp. CLIAs for MLXIPL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR011598 bHLH_dom

    Graphical View of Domain Structure for InterPro Entry Q9NP71

    ProtoNet protein and cluster: Q9NP71

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

    UniProtKB/Swiss-Prot: MLXPL_HUMAN, Q9NP71
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    MLXIPL 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: MLXPL_HUMAN, Q9NP71
    Function: Transcriptional repressor. Binds to the canonical and non-canonical E box sequences 5'-CACGTG-3' (By
    similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS10780788
    GO:0003700sequence-specific DNA binding transcription factor activity NAS10780788
    GO:0005515protein binding ----
    GO:0008134transcription factor binding IPI11230181
    GO:0035538carbohydrate response element binding TAS18591247
         
    MLXIPL for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mlxipl):
     adipose tissue  homeostasis/metabolism  liver/biliary system  mortality/aging 

    MLXIPL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mlxipltm1Kuy for MLXIPL

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

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

    miRNA
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    Block miRNA regulation of human, mouse, rat MLXIPL using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate MLXIPL:
    hsa-miR-1184 hsa-miR-4254 hsa-miR-520d-5p hsa-miR-767-3p hsa-miR-524-5p hsa-miR-486-3p hsa-miR-874 hsa-miR-4308
    SwitchGear 3'UTR luciferase reporter plasmidMLXIPL 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MLXIPL
    Predesigned siRNA for gene silencing in human, mouse, rat MLXIPL

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

    Clone
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    OriGene ORF clones in mouse, rat for MLXIPL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): MLXIPL (NM_032951)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MLXIPL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MLXIPL

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLXIPL


    (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
    MLXPL_HUMAN, Q9NP71: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    cytoskeleton1
    extracellular1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS10780788
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex NAS11230181
    GO:0005737cytoplasm ISS11230181
    GO:0005829cytosol TAS--

    MLXIPL 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 MLXIPL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metformin Pathway, Pharmacodynamic
    Metformin Pathway, Pharmacodynamic
    AMPK inhibits chREBP transcriptional activation activity0.00
    2Integration of energy metabolism
    Integration of energy metabolism0.75
    PKA-mediated phosphorylation of key metabolic factors0.00
    ChREBP activates metabolic gene expression0.00
    PP2A-mediated dephosphorylation of key metabolic factors0.00
    3Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Non-alcoholic fatty liver disease (NAFLD)0.41
    4Metabolism
    Metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 Reactome Pathways for MLXIPL
        AMPK inhibits chREBP transcriptional activation activity
    PP2A-mediated dephosphorylation of key metabolic factors
    PKA-mediated phosphorylation of key metabolic factors
    ChREBP activates metabolic gene expression

    1 PharmGKB Pathway for MLXIPL
        Metformin Pathway, Pharmacodynamic

    1 Kegg Pathway  (Kegg details for MLXIPL):
        Non-alcoholic fatty liver disease (NAFLD)


    MLXIPL for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MLXIPL: 
              Hepatotoxicity in human mouse rat
              Fatty Liver in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for MLXIPL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for MLXIPL (Q9NP713 ENSP000003208864) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLXQ9UH923, ENSP000002469124I2D: score=2 STRING: ENSP00000246912
    NIF3L1Q9GZT83, ENSP000003863944I2D: score=1 STRING: ENSP00000386394
    ACACBENSP000003670794STRING: ENSP00000367079
    ACLYENSP000002537924STRING: ENSP00000253792
    FASNENSP000003045924STRING: ENSP00000304592
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated NAS10780788
    GO:0008284positive regulation of cell proliferation IMP19995986

    MLXIPL 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 MLXIPL (MLXPL)

    Selected Novoseek inferred chemical compound relationships for MLXIPL gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carbohydrates 73.7 16 15649033 (1), 17674202 (1), 17991443 (1), 2183675 (1) (see all 15)
    polysaccharide 66.2 17 17922555 (2), 18365713 (1), 18083059 (1), 18762193 (1) (see all 14)
    lactose 59.2 1 7852273 (1)
    mannose 51.5 1 1730714 (1)
    monosaccharide 51.2 1 17656321 (1)
    n-acetylglucosamine 49.1 3 7887967 (1), 2401636 (1)
    sterol 42.4 10 15733741 (2), 16368706 (1), 17379603 (1), 12897191 (1) (see all 8)
    n-acetyllactosamine 42.3 3 8526926 (1), 16925668 (1)
    acetyl-coa 38.1 3 16885160 (1), 12897191 (1), 18684130 (1)
    glucose 35.8 139 16375857 (7), 18591247 (7), 18436566 (7), 16891625 (5) (see all 27)



    MLXIPL 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 MLXIPL gene (5 alternative transcripts): 
    NM_032951.2  NM_032952.2  NM_032953.2  NM_032954.2  NM_032994.2  

    Unigene Cluster for MLXIPL:

    MLX interacting protein-like
    Hs.647055  [show with all ESTs]
    Unigene Representative Sequence: NM_032951
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000414749 ENST00000429400 ENST00000345114 ENST00000313375(uc003tym.1 uc003tyl.1 uc003tyn.1 uc003tyo.1)
    ENST00000354613(uc003tyk.1) ENST00000434326(uc003typ.1) ENST00000467221
    ENST00000476404(uc003tyq.1) ENST00000453275 ENST00000488212 ENST00000456640
    ENST00000395189(uc003tyj.1)
    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate MLXIPL:
    hsa-miR-1184 hsa-miR-4254 hsa-miR-520d-5p hsa-miR-767-3p hsa-miR-524-5p hsa-miR-486-3p hsa-miR-874 hsa-miR-4308
    SwitchGear 3'UTR luciferase reporter plasmidMLXIPL 3' UTR sequence
    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): MLXIPL (NM_032951)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MLXIPL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MLXIPL
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MLXIPL
      QuantiTect SYBR Green Assays in human, mouse, rat MLXIPL
      QuantiFast Probe-based Assays in human, mouse, rat MLXIPL

    Additional mRNA sequence: 

    AF156603.1 AF245470.1 AF245471.1 AF245472.1 AF245473.1 AF245474.1 BC012925.1 

    6 DOTS entries:

    DT.100779644  DT.412860  DT.100021442  DT.100646390  DT.99991749  DT.95169145 

    Selected AceView cDNA sequences (see all 108):

    CA503344 BM784979 AF245474 BM785015 BM746017 BF590519 AA834402 AI283253 
    AF245470 AA503070 AW177546 NM_032994 AI076668 CB306354 CD517003 AF245471 
    BM746031 NM_032954 AW026685 AF245472 BF588562 AF156603 NM_032951 AF245473 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MLXIPL (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^
    SP1:                                                                                                        -                                               -   
    SP2:                                      -                                                                                                                     
    SP3:                                      -                                                                                                                     
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 17
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for MLXIPL

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


    MLXIPL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Liver (Hepatobiliary System)
             Liver Lobule
     
     Kidney (Urinary System)
             Metanephros
    MLXIPL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MLXIPL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.647055

    UniProtKB/Swiss-Prot: MLXPL_HUMAN, Q9NP71
    Tissue specificity: Expressed in liver, heart, kidney, cerebellum and intestinal tissues

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MLXIPL: 
              Hepatotoxicity in human mouse rat
              Fatty Liver in human mouse rat

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

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLXIPL

    (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 MLXIPL gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mlxipl1 , 5 MLX interacting protein-like1, 5 83.41(n)1
    83.17(a)1
      5 (75.00 cM)5
    588051  NM_021455.41  NP_067430.21 
     1351068915 
    lizard
    (Anolis carolinensis)
    Reptilia MLXIPL6
    MLX interacting protein-like
    72(a)
    1 ↔ 1
    GL344691.1(21-4089)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1018821871 carbohydrate-responsive element-binding protein-like 68.41(n)
    68.95(a)
      101882187  XM_005171733.1  XP_005171790.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Mio6
    Mlx interactor
    21(a)
    1 → many
    2L(21286078-21310032)
    worm
    (Caenorhabditis elegans)
    Secernentea mml-16
    Protein MML-1, isoform a (mml-1) mRNA, complete cd...
    19(a)
    1 → many
    III(7370131-7374725) WBGene00003378


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MLXIPL gene
    MLX2  MLXIP2  
    1 SIMAP similar gene for MLXIPL using alignment to 7 protein entries:     MLXPL_HUMAN (see all proteins):
    MLXIP

    MLXIPL 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 MLXIPL (see all 846)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs587054321,2
    C--72342267(+) TTTTT-/T/TT  
            
    GACAG
    4 -- int12NA 4
    rs1137888991,2
    C--72347680(+) TAAGGC/GTGGGC 4 -- int10--------
    rs1869432481,2
    --72347688(+) GGCTCC/TGAGTG 4 -- int10--------
    rs1907368871,2
    --72347712(+) AGGGGC/TCTAAG 4 -- int10--------
    rs27369081,2
    C,F,H--72347798(-) CCCAGC/TCTTAG 4 -- int14Minor allele frequency- T:0.01EA NS 464
    rs1826169171,2
    C--72348036(+) GGGTGG/TGCTCC 4 -- int10--------
    rs106534401,2
    C--72349613(+) ttctc-/TCTT  
            
    tcttt
    4 -- int1 trp30--------
    rs1114261221,2
    C--73007588(+) ACATCCA/-CACAC 4 -- ut311Minor allele frequency- -:0.50CSA 2
    rs556392531,2
    C--73015507(+) GTGTT-/GT    
       
    /GTGT
    TGTGT
    4 -- int10--------
    rs726490221,2
    C,F--73017937(+) TTAGGAGG/-TCACT 4 -- int11Minor allele frequency- -:0.05NS 374

    HapMap Linkage Disequilibrium report for MLXIPL (73007524 - 73038873 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MLXIPL:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831028CNV Loss17160897
    nsv888369CNV Loss21882294
    dgv7325n71CNV Loss21882294
    nsv469841CNV Complex16826518

    Human Gene Mutation Database (HGMD): MLXIPL
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MLXIPL
    DNA2.0 Custom Variant and Variant Library Synthesis for MLXIPL

    (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: 605678    OMIM disorders: --

    UniProtKB/Swiss-Prot: MLXPL_HUMAN, Q9NP71
  • Note=WBSCR14 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a
    hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing
    over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of
    WBSCR14 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease

  • Selected diseases for MLXIPL (see all 37):    About MalaCards
    williams-beuren syndrome    hepatocellular adenoma    balanitis    fatty liver disease
    chordoma    duchenne muscular dystrophy    primary open angle glaucoma    open-angle glaucoma
    pregnancy loss    glaucoma    hypertriglyceridemia    liver disease
    oral squamous cell carcinoma    muscular dystrophy    coronary heart disease    coronary artery disease
    obesity    blindness    insulin resistance    dementia

    3 diseases from the University of Copenhagen DISEASES database for MLXIPL:
    Fatty liver disease     Diabetes mellitus     Williams-Beuren syndrome

    MLXIPL for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MLXIPL gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fatty liver 44 2 18950580 (1)
    neoplastic processes 37.8 1 11748478 (1)
    williams syndrome 35.9 2 10780788 (1), 15100094 (1)
    squamous cell cancer 18.5 1 11795826 (1)
    tumors 15.9 11 8864733 (1), 9394742 (1), 19995986 (1), 10702407 (1) (see all 9)
    prostate carcinoma 15.6 2 19052253 (1)
    inflammation 15 3 8913692 (1), 15191517 (1), 20153309 (1)
    cancer 11.5 11 8269974 (1), 19252981 (1), 11927277 (1), 19287997 (1) (see all 8)
    obesity 8.35 2 17978749 (1), 19223519 (1)
    metastasis 5.96 5 10702407 (1), 19217525 (1), 9264362 (1), 17724007 (1)

    Genetic Association Database (GAD): MLXIPL
    Human Genome Epidemiology (HuGE) Navigator: MLXIPL (22 documents)

    Export disorders for MLXIPL 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 MLXIPL gene, integrated from 10 sources (see all 250):
    (articles sorted by number of sources associating them with MLXIPL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. (PubMed id 9860302)1, 2, 3 Meng X....Keating M.T. (Hum. Genet. 1998)
    2. WBSCR14, a putative transcription factor gene deleted in Williams- Beuren syndrome: complete characterisation of the human gene and the mouse ortholog. (PubMed id 10780788)1, 2, 9 de Luis O.... Perez Jurado L.A. (Eur. J. Hum. Genet. 2000)
    3. Replication of association between a common variant near melanocortin-4 receptor gene and obesity-related traits in Asian Sikhs. (PubMed id 19680233)1, 4, 9 Been L.F....Sanghera D.K. (Obesity (Silver Spring) 2010)
    4. Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk. (PubMed id 19252981)1, 4, 9 Campa D....Kaaks R. (Breast Cancer Res. Treat. 2009)
    5. Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. (PubMed id 22399527)1, 4 Kristiansson K....Salomaa V. (Circ Cardiovasc Genet 2012)
    6. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PubMed id 22286219)1, 4 Kettunen J....Ripatti S. (Nat. Genet. 2012)
    7. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PubMed id 22001757)1, 4 Chambers J.C....Kooner J.S. (Nat. Genet. 2011)
    8. Replication of recently described type 2 diabetes gene variants in a South Indian population. (PubMed id 20580033)1, 4 Chidambaram M....Mohan V. (Metab. Clin. Exp. 2010)
    9. Triglyceride level modifying functional variants of GALTN2 and MLXIPL in patients with ischaemic stroke. (PubMed id 20158509)1, 4 PolgA!r N....Melegh B. (Eur. J. Neurol. 2010)
    10. Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. (PubMed id 20167577)1, 4 Reynolds C.A....Prince J.A. (Hum. Mol. Genet. 2010)

    (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)
    About This Section

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    Entrez Gene: 51085 HGNC: 12744 AceView: WBSCR14 Ensembl:ENSG00000009950 euGenes: HUgn51085
    ECgene: MLXIPL Kegg: 51085 H-InvDB: MLXIPL

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for MLXIPL Pharmacogenomics, SNPs, Pathways

    (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 MLXIPL gene:
    Search GeneIP for patents involving MLXIPL

    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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