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

MIPOL1 Gene

protein-coding   GIFtS: 45
GCID: GC14P037667

mirror-image polydactyly 1

 Explore 9 diseases affiliated with
MIPOL1 via our new
 Human Malady Compendium 
Biological research products
for MIPOL1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Mirror-Image Polydactyly 11 2
Mirror-Image Polydactyly Gene 1 Protein2

External Ids:    HGNC: 214601   Entrez Gene: 1452822   Ensembl: ENSG000001513387   OMIM: 6068505   UniProtKB: Q8TD103   

Export aliases for MIPOL1 gene to outside databases

Previous GC identifers: GC14P035069 GC14P031546 GC14P035657 GC14P036736 GC14P017781


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

Entrez Gene summary for MIPOL1:
This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A
translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image
polydactyly, also known as Laurin-Sandrow Syndrome. Alternatively spliced transcript variants have been described.
(provided by RefSeq, Sep 2010)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MIPOL1 gene promoter:
         AP-1   ATF-2   E47   CBF-B   CBF-A   Hand1   c-Jun   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMIPOL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MIPOL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MIPOL1


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

Entrez Gene cytogenetic band: 14q13.3   Ensembl cytogenetic band:  14q13.3   HGNC cytogenetic band: 14q13.3

MIPOL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MIPOL1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P037667:  view genomic region     (about GC identifiers)

Start:
37,667,118 bp from pter      End:
38,021,566 bp from pter
Size:
354,449 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MIPO1_HUMAN, Q8TD10 (See protein sequence)
Recommended Name: Mirror-image polydactyly gene 1 protein  
Size: 442 amino acids; 51537 Da
Secondary accessions: D3DSA4 Q7Z3J0 Q8IV14
Alternative splicing: 3 isoforms:  Q8TD10-1   Q8TD10-2   Q8TD10-3   (May be due to a competing acceptor splice site. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MIPOL1: NX_Q8TD10

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8TD10

  • MIPOL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001182225.1  NP_001182226.1  NP_620059.1  

    ENSEMBL proteins: 
     ENSP00000451297   ENSP00000333539   ENSP00000438319   ENSP00000450479   ENSP00000452478  
     ENSP00000450575   ENSP00000379589   ENSP00000444254   ENSP00000442529   ENSP00000437891  

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    Novus Biologicals MIPOL1 Proteins
    Novus Biologicals MIPOL1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MIPOL1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19667180


    MIPOL1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MIPOL1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MIPOL1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR026175 MIPOL1

    Graphical View of Domain Structure for InterPro Entry Q8TD10

    ProtoNet protein and cluster: Q8TD10


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
    Products:
        
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MIPOL1
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    hsa-miR-140-5p hsa-miR-576-3p hsa-miR-15a hsa-miR-128 hsa-miR-3613-3p hsa-miR-761 hsa-miR-1 hsa-miR-466
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): MIPOL1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MIPOL1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for MIPOL1 (ENSP000003335394) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MIPOL1
    Search CenterWatch for drugs/clinical trials and news about MIPOL1 / MIPO1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MIPOL1 gene (3 alternative transcripts): 
    NM_001195296.1  NM_001195297.1  NM_138731.6  

    Unigene Cluster for MIPOL1:

    Mirror-image polydactyly 1
    Hs.660396  [show with all ESTs]
    Unigene Representative Sequence: BX647795
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000556615 ENST00000327441(uc001wud.3 uc010ams.3 uc001wuc.3 uc001wue.3 uc010amt.3)
    ENST00000554930 ENST00000539062 ENST00000556451(uc001wub.4) ENST00000555870(uc010amr.2)
    ENST00000556753 ENST00000554114 ENST00000539174 ENST00000553349 ENST00000556940
    ENST00000553562 ENST00000396294 ENST00000537471 ENST00000545536 ENST00000536774


    miRNA
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    OriGene 3'-UTR Clone: MIPOL1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MIPOL1
    8/67 QIAGEN miScript miRNA Assays for microRNAs that regulate MIPOL1 (see all 67):
    hsa-miR-140-5p hsa-miR-576-3p hsa-miR-15a hsa-miR-128 hsa-miR-3613-3p hsa-miR-761 hsa-miR-1 hsa-miR-466
    SwitchGear 3'UTR luciferase reporter plasmids (see all 2): MIPOL1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MIPOL1
    OriGene shRNA RFP: MIPOL1
    OriGene siRNA: MIPOL1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MIPOL1
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MIPOL1 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MIPOL1
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    GenScript: all cDNA clones in your preferred vector (see all 3): MIPOL1 (NM_001195296)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MIPOL1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MIPOL1

    Additional cDNA sequence: 

    AK291850.1 AY059470.1 BC035870.1 BC036124.1 BC036523.1 BX537396.1 BX537870.1 BX647795.1 
    FJ423747.1 

    7 DOTS entries:

    DT.75131896  DT.40237807  DT.101983778  DT.101983779  DT.40263711  DT.97833436  DT.91675093 

    24/43 AceView cDNA sequences (see all 43):

    BG190320 CA425382 AW008456 BC035870 BQ129264 BC036124 CK823627 AI492095 
    CB105473 BP340598 AI806326 BI964772 AI250034 NM_138731 BC036523 BG204575 
    BI561546 BG718644 BG291923 BU181684 BX490083 BQ129413 BI917134 AA012815 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for MIPOL1    About this scheme

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


    ECgene alternative splicing isoforms for MIPOL1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MIPOL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MIPOL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MIPOL1

    SOURCE GeneReport for Unigene cluster: Hs.660396

    UniProtKB/Swiss-Prot: MIPO1_HUMAN, Q8TD10
    Tissue specificity: Expressed very weakly in heart, liver, skeletal muscle, kidney, pancreas and fetal kidney. Not
    detected in brain, placenta and lung

        SABiosciences Custom PCR Arrays for MIPOL1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIPOL1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for MIPOL1 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mipol11 , 5 mirror-image polydactyly gene 1 homolog (human)1, 5 82.23(n)1
    75.73(a)1
      12 (24.70 cM)5
    734901  NM_001164370.11  NP_001157842.11 
     572304275 
    chicken
    (Gallus gallus)
    Aves MIPOL11 mirror-image polydactyly 1 76.19(n)
    68.18(a)
      423331  XM_421248.2  XP_421248.2 
    lizard
    (Anolis carolinensis)
    Reptilia MIPOL16
    --
    68(a)
    1 ↔ 1
    1(25332659-25355641)
    zebrafish
    (Danio rerio)
    Actinopterygii mipol11 mirror-image polydactyly 1 55.49(n)
    50.63(a)
      321390  XM_002665149.2  XP_002665195.2 


    ENSEMBL Gene Tree for MIPOL1 (if available)
    TreeFam Gene Tree for MIPOL1 (if available) 

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/5595 NCBI SNPs in MIPOL1 are shown (see all 5595    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1112854361,2
    --17780169(+) TCTACG/CTCCAA 3 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs780728021,2
    C,--17780246(+) GCCATC/GGTAGC 3 -- us2k12Minor allele frequency- G:0.08WA 120
    rs597409561,2
    C,--17781381(+) CGGCCC/TGGCAG 3 -- us2k13Minor allele frequency- T:0.22NA WA EA 240
    rs1133835871,2
    C,--17782089(+) TACTGT/-TAGAA 3 -- int11Minor allele frequency- -:0.50CSA 2
    rs785303351,2
    --17782173(+) GGATGG/AAGGGA 3 -- int11Minor allele frequency- A:0.01WA 118
    rs755194821,2
    F,--17783539(+) AGTAGG/CAATAT 3 -- int11Minor allele frequency- C:0.13WA 118
    rs769179491,2
    C,F,--17783692(+) AGTTTC/TAGCTA 3 -- int11Minor allele frequency- T:0.05EA 120
    rs1135606601,2
    --17784125(+) TTGTTT/CACATA 3 -- int12Minor allele frequency- C:0.03CSA WA 120
    rs101355301,2
    C,--17784360(+) TATCTG/ATCTAt 3 -- int11Minor allele frequency- A:0.50WA 2
    rs1147443721,2
    C,F,--17784881(+) AGACAG/AGTAAG 3 -- int11Minor allele frequency- A:0.02WA 118

    HapMap Linkage Disequilibrium report for MIPOL1 (37667118 - 37917118 bp, first 250kb of MIPOL1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 6 variations for MIPOL1
         2 CNVs: 66623 101927
         4 Indels: 101928 76631 71888 87185
    Human Gene Mutation Database (HGMD): MIPOL1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MIPOL1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MIPOL1 for disorders           About GeneDecksing

    OMIM gene information: 606850   
    OMIM disorders: 135750  
    UniProtKB/Swiss-Prot: MIPO1_HUMAN, Q8TD10
  • Note=A chromosomal aberration involving MIPOL1 is found in a patient with mirror-image polydactyly of hands
  • and feet without other anomalies (MIP). Translocation t(2;14)(p23.3;q13). MIP is a very rare congenital anomaly
    characterized by mirror-image duplication of digits. MIP is occasionally associated with dimelia of the ulna and
    fibula, tibial and/or fibular hypoplasia, nasal abnormality and other malformations. Most MIP cases are sporadic, but
    very rare parent-child transmissions observed in familial cases suggest an autosomal mode of inheritance

    9 diseases for MIPOL1:    About MalaCards
    mirror-image polydactyly    polydactyly    laurin-sandrow syndrome    adult astrocytic tumour
    fibular hypoplasia    intrahepatic cholangiocarcinoma    cholangiocarcinoma    nasopharyngitis
    carcinoma

    Human Genome Epidemiology (HuGE) Navigator: MIPOL1 (1 document)

    Export disorders for MIPOL1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MIPOL1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with MIPOL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet. (PubMed id 11954550)1, 2, 3, 9 Kondoh S.... Yoshiura K. (2002)
    2. Chromosome 14 transfer and functional studies identif y a candidate tumor suppressor gene, mirror image polydactyly 1, in nasopharyng eal carcinoma. (PubMed id 19667180)1, 3 Cheung A.K....Lung M.L. (2009)
    3. 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. (2004)
    4. Rearrangement in the PITX2 and MIPOL1 genes in a patient with a t(4;14) chromosome. (PubMed id 12700605)1, 9 Kamnasaran D....Cox D.W. (2003)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    8. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    9. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (2006)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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)
    About This Section
    Entrez Gene: 145282 HGNC: 21460 AceView: MIPOL1 Ensembl:ENSG00000151338 euGenes: HUgn145282
    ECgene: MIPOL1 H-InvDB: MIPOL1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MIPOL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MIPOL1 gene:
    Search GeneIP for patents involving MIPOL1

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



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