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ISL1 Gene

protein-coding   GIFtS: 63
GCID: GC05P050714

ISL LIM Homeobox 1

(Previous names: ISL1 transcription factor, LIM/homeodomain, (islet-1))
  See ISL1-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
ISL LIM Homeobox 11 2     Insulin Gene Enhancer Protein ISL-12
ISL1 Transcription Factor, LIM/Homeodomain, (Islet-1)1     ISL1 Transcription Factor, LIM/Homeodomain2
ISLET12     islet-12
Isl-12     Islet-13

External Ids:    HGNC: 61321   Entrez Gene: 36702   Ensembl: ENSG000000160827   OMIM: 6003665   UniProtKB: P613713   

Export aliases for ISL1 gene to outside databases

Previous GC identifers: GC05P050856 GC05P052121 GC05P050649 GC05P050695 GC05P047642


(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 ISL1 Gene:
This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to
the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene
expression. The encoded protein is central to the development of pancreatic cell lineages and may also be
required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of
the young. (provided by RefSeq, Jul 2008)

GeneCards Summary for ISL1 Gene:
ISL1 (ISL LIM homeobox 1) is a protein-coding gene. Diseases associated with ISL1 include maturity-onset diabetes of the young, and gilles de la tourette syndrome. GO annotations related to this gene include RNA polymerase II activating transcription factor binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is LHX2.

UniProtKB/Swiss-Prot: ISL1_HUMAN, P61371
Function: Binds and regulates the promoters of the insulin, glucagon and somatostatin genes. Involved in the
specificarion of motor neurons in cooperation with LHX3 and LDB1 (By similarity)

Gene Wiki entry for ISL1 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 at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the ISL1 gene promoter:
         STAT1   POU2F1   AP-1   POU2F1a   ATF-2   STAT3   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidISL1 promoter sequence
   Search Chromatin IP Primers for ISL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ISL1


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

Entrez Gene cytogenetic band: 5q11.1   Ensembl cytogenetic band:  5q11.1   HGNC cytogenetic band: 5q11.2

ISL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ISL1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P050714:  view genomic region     (about GC identifiers)

Start:
50,678,921 bp from pter      End:
50,690,564 bp from pter
Size:
11,644 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ISL1_HUMAN, P61371 (See protein sequence)
Recommended Name: Insulin gene enhancer protein ISL-1  
Size: 349 amino acids; 39036 Da
Subunit: At neuronal promoters, displaces LDB1 from LHX3 LIM domain to form a ternary complex in which ISL1
contacts both LHX3 and LDB1 (By similarity)
Secondary accessions: P20663 P47894

Explore the universe of human proteins at neXtProt for ISL1: NX_P61371

Explore proteomics data for ISL1 at MOPED

Post-translational modifications: 

  • Phosphorylated (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ISL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002193.2  
    ENSEMBL proteins: 
     ENSP00000230658   ENSP00000422676  
    Reactome Protein details: P61371

    ISL1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ISL1

     
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    ISL1 Antibody Products:

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    Cloud-Clone Corp. ELISAs for ISL1
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    Search eBioscience for ELISAs for ISL1 


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

    4 InterPro protein domains:
     IPR001781 Znf_LIM
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry P61371

    ProtoNet protein and cluster: P61371

    UniProtKB/Swiss-Prot: ISL1_HUMAN, P61371
    Similarity: Contains 1 homeobox DNA-binding domain
    Similarity: Contains 2 LIM zinc-binding domains


    Find genes that share domains with ISL1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ISL1_HUMAN, P61371
    Function: Binds and regulates the promoters of the insulin, glucagon and somatostatin genes. Involved in the
    specificarion of motor neurons in cooperation with LHX3 and LDB1 (By similarity)

         Genatlas biochemistry entry for ISL1:
    islet-1 nuclear protein,binding to the enhancer region of the insulin gene,LIM-homeo doamin family

         Gene Ontology (GO): Selected molecular function terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001102RNA polymerase II activating transcription factor binding IPI19619559
    GO:0001105RNA polymerase II transcription coactivator activity IDA19619559
    GO:0001158enhancer sequence-specific DNA binding NAS7789634
    GO:0003677DNA binding ----
    GO:0003682chromatin binding IEA--
         
    Find genes that share ontologies with ISL1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ISL1:
     Decreased POU5F1-GFP protein e 

         Selected MGI mutant phenotypes (inferred from 12 alleles(MGI details for Isl1) (see all 20):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  immune system 
     integument  limbs/digits/tail  mortality/aging  muscle  nervous system 

    Find genes that share phenotypes with ISL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ISL1: Isl1tm1Tmj Isl1tm2.1Sev Isl1tm1.2Whk

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ISL1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ISL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ISL1

    Transcription Factor Targeting: 
    Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer 
                                          Consensus sequence:  CTAATKGV 

    miRNA
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    miRTarBase miRNAs that target ISL1:
    hsa-let-7d-5p (MIRT032141)

    Block miRNA regulation of human, mouse, rat ISL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ISL1 (see all 61):
    hsa-miR-4291 hsa-miR-576-3p hsa-miR-4328 hsa-miR-513a-5p hsa-miR-517a hsa-miR-29a hsa-miR-605 hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidISL1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ISL1
    Predesigned siRNA for gene silencing in human, mouse, rat ISL1

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: ISL1 (NM_002202)
    Sino Biological Human cDNA Clone for ISL1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ISL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ISL1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISL1

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-11327) for ISL1 


    (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
    ISL1_HUMAN, P61371: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton2
    cytosol2
    extracellular1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus NAS7907017
    GO:0005737cytoplasm NAS7907017

    Find genes that share ontologies with ISL1           About GenesLikeMe


    (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 ISL1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Incretin Synthesis, Secretion, and Inactivation
    Incretin Synthesis, Secretion, and Inactivation0.88
    Synthesis, Secretion, and Inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)0.00
    2Type II diabetes mellitus
    Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30
    4Peptide hormone metabolism
    Peptide hormone metabolism0.30
    5Transcriptional Regulatory Network in Embryonic Stem Cell
    Transcriptional Regulatory Network in Embryonic Stem Cell


    Find genes that share SuperPaths with ISL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ISL1
        Transcriptional Regulatory Network in Embryonic Stem Cell

    3 BioSystems Pathways for ISL1
        Heart Development
    Cardiac Progenitor Differentiation
    Neural Crest Differentiation


    1 Reactome Pathway for ISL1
        Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)

    1 PharmGKB Pathway for ISL1
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ISL1: 
              Terminal Differentiation Markers in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Stem Cells in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ISL1

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

    Selected Interacting proteins for ISL1 (P613713 ENSP000002306584) via UniProtKB, MINT, STRING, and/or I2D (see all 52)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LHX3Q9UBR43, ENSP000003608114I2D: score=3 STRING: ENSP00000360811
    LDB1Q86U703, ENSP000003924664I2D: score=2 STRING: ENSP00000392466
    LDB2O436793, ENSP000003067724I2D: score=2 STRING: ENSP00000306772
    LMO2P257913, ENSP000002578184I2D: score=2 STRING: ENSP00000257818
    LMX1AQ8TE123, ENSP000002948164I2D: score=2 STRING: ENSP00000294816
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 55):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0001755neural crest cell migration IEA--
    GO:0003007heart morphogenesis ----
    GO:0003139secondary heart field specification IMP--
    GO:0003148outflow tract septum morphogenesis ISS--

    Find genes that share ontologies with ISL1           About GenesLikeMe



    (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 ISL1

    2 Novoseek inferred chemical compound relationships for ISL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proglucagon 62.3 1 12697711 (1)
    glucose 6.83 7 16186810 (1), 18374087 (1), 15561947 (1), 18776996 (1)



    Find genes that share compounds with ISL1           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ISL1 gene: 
    NM_002202.2  

    Unigene Cluster for ISL1:

    ISL LIM homeobox 1
    Hs.505  [show with all ESTs]
    Unigene Representative Sequence: NM_002202
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000230658(uc003jor.3) ENST00000511384 ENST00000505475
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ISL1 (see all 61):
    hsa-miR-4291 hsa-miR-576-3p hsa-miR-4328 hsa-miR-513a-5p hsa-miR-517a hsa-miR-29a hsa-miR-605 hsa-miR-128
    SwitchGear 3'UTR luciferase reporter plasmidISL1 3' UTR sequence
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    Additional mRNA sequence: 

    AK290742.1 BC017027.1 BC031213.1 S70721.1 U07559.1 

    2 DOTS entries:

    DT.111562  DT.40105902 

    Selected AceView cDNA sequences (see all 55):

    BC017027 AI581396 BQ639172 BP374491 AI167182 AI963450 S70721 BQ187955 
    BU784283 AI277006 AL711661 BQ286493 BX394774 CB243899 AA993442 AI868529 
    BU784014 AI810730 NM_002202 BX430881 BU729625 BU787440 BQ022318 BX955450 

    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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    ISL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCATTTGACA
    ISL1 Expression
    About this image


    ISL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 30) fully expand
     
     Neurons
             Flexor Carpi Ulnaris Muscle Motor Neurons Caudal Brachial Medial Motor Division
             Motor neuron progenitor cells
     
     Spinal Cord (Nervous System)    fully expand to see all 22 entries
             Flexor Carpi Ulnaris Muscle Motor Neurons Caudal Brachial Medial Motor Division
             Motor neuron progenitor cells
     
     Heart (Cardiovascular System)    fully expand to see all 23 entries
             Cardiomyocytes Outflow Tract
             Cardiac progenitor cells (Sca1+)
             Cardiomyocyte-like cells
     
     Eye (Sensory Organs)    fully expand to see all 16 entries
             Mature Ganglion Cells Ganglion Cell Layer
             Retina
     
     Motor Neurons (Nervous System)    fully expand to see all 11 entries
             Motor neuron progenitor cells
    ISL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ISL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.505

    UniProtKB/Swiss-Prot: ISL1_HUMAN, P61371
    Tissue specificity: Expressed in subsets of neurons of the adrenal medulla and dorsal root ganglion, inner nuclear
    and ganglion cell layers in the retina, the pineal and some regions of the brain

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ISL1: 
              Terminal Differentiation Markers in human mouse rat
              Stem Cell Transcription Factors in human mouse rat
              Stem Cells in human mouse rat
              Homeobox (HOX) Genes in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat ISL1
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISL1

    (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 ISL1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Isl11 , 5 ISL1 transcription factor, LIM/homeodomain1, 5 93.03(n)1
    100(a)1
      13 (64.87 cM)5
    163921  NM_021459.41  NP_067434.31 
     1162982815 
    chicken
    (Gallus gallus)
    Aves ISL11 ISL LIM homeobox 1 89.49(n)
    99.43(a)
      396383  NM_205414.1  NP_990745.1 
    lizard
    (Anolis carolinensis)
    Reptilia ISL16
    ISL LIM homeobox 1
    92(a)
    1 ↔ 1
    2(4389668-4426822)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.104522 Transcribed sequence with strong similarity to protein more 84.15(n)    BX736684.1 
    zebrafish
    (Danio rerio)
    Actinopterygii isl12 islet1 81.5(n)   30147  BC060892.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tup1 , 3 terminal region determination specific
    RNA polymerase more3
    tailup1
    76(a)3
    62.23(n)1
    66.56(a)1
      2 37B13
    351471  NM_057426.31  NP_476774.11 
    worm
    (Caenorhabditis elegans)
    Secernentea lim-71 lim-7 51.05(n)
    45.02(a)
      172236  NM_059267.1  NP_491668.1 


    ENSEMBL Gene Tree for ISL1 (if available)
    TreeFam Gene Tree for ISL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ISL1 gene
    LHX22  LHX92  LMX1B2  LHX52  LHX62  LHX12  LMX1A2  LHX42  
    LHX32  LHX82  ISL22  
    14 SIMAP similar genes for ISL1 using alignment to 2 protein entries:     ISL1_HUMAN (see all proteins):
    ISL2    LHx4    LMO3    LMO4    LMO1    LMO2
    LHX6    LHX1    LMX1A    LHX3    LHX9    LHX8
    LHX5    LHX4

    Find genes that share paralogs with ISL1           About GenesLikeMe



    (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 ISL1 (see all 296)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1162220821,2
    C,Funtested150615564(+) GAGAGG/ATGCCC 1 -- ut511Minor allele frequency- A:0.03NA 120
    rs1219135401,2
    C,Funtested150621814(+) CTGCGG/ACCCCA 2 /R syn11Minor allele frequency- A:0.01EU 1107
    rs1219135411,2
    C,Funtested150621868(+) CTGAAC/TGAGAA 2 N syn11Minor allele frequency- T:0.01EU 1317
    rs1219122861,2
    Cuntested150622056(+) GCCCAA/GTGACA 2 N S mis11Minor allele frequency- G:0.00EU 1271
    rs602747071,2
    C,F--47641126(+) AAAAAC/ACACAC 1 -- us2k13Minor allele frequency- A:0.50NA WA CSA 6
    rs1118090741,2
    C--47643689(+) AGGAAG/-GGGGG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1896837921,2
    --47643696(+) GGGGGA/G/TGGAGA 1 -- int10--------
    rs68745471,2
    C,A--47650082(+) TCTTTC/TTTTTT 1 -- int1 trp30--------
    rs345848801,2
    C--47650088(+) TTTTTC/G/TTTTTT 1 -- int10--------
    rs30330461,2
    C--47653897(-) TTTCC-/T/TT  
            
    TTTTT
    2 -- ut310--------

    HapMap Linkage Disequilibrium report for ISL1 (50678921 - 50690564 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ISL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830288CNV Gain17160897

    Human Gene Mutation Database (HGMD): ISL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ISL1
    DNA2.0 Custom Variant and Variant Library Synthesis for ISL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600366    OMIM disorders: --

    4 diseases for ISL1:    
    About MalaCards
    maturity-onset diabetes of the young    gilles de la tourette syndrome    double outlet right ventricle    tetralogy of fallot

    2 diseases from the University of Copenhagen DISEASES database for ISL1:
    Mucoepidermoid carcinoma     Diabetes mellitus

    Find genes that share disorders with ISL1           About GenesLikeMe

    3 Novoseek inferred disease relationships for ISL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    niddm 1.21 1 7912209 (1)
    tumors 0 7 18300808 (3), 1685766 (2), 10334320 (1)
    obesity 0 4 10334320 (2), 11978668 (2)

    Genetic Association Database (GAD): ISL1
    Human Genome Epidemiology (HuGE) Navigator: ISL1 (7 documents)

    Export disorders for ISL1 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 ISL1 gene, integrated from 10 sources (see all 103):
    (articles sorted by number of sources associating them with ISL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of the human LIM/homeodomain gene islet-1 and identification of a simple sequence repeat polymorphism. (PubMed id 7912209)1, 2, 3, 9 Tanizawa Y.... Permutt M.A. (Diabetes 1994)
    2. The LIM domain homeobox gene isl-1: conservation of human, hamster, and rat complementary deoxyribonucleic acid sequences and expression in cell types of nonneuroendocrine lineage. (PubMed id 7907017)1, 2, 9 Wang M. and Drucker D.J. (Endocrinology 1994)
    3. Association study for genes at chromosome 5p13-q11 in attention deficit hyperactivity disorder. (PubMed id 18081024)1, 4, 9 Laurin N....Barr C.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    4. Common variation in ISL1 confers genetic susceptibility for human congenital heart disease. (PubMed id 20520780)1, 4 Stevens K.N....Gruber P.J. (PLoS ONE 2010)
    5. Chromosome 5 and Gilles de la Tourette syndrome: Linkage in a large pedigree and association study of six candidates in the region. (PubMed id 18454440)1, 4 Laurin N....Barr C.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    6. Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects. (PubMed id 16873704)1, 4 Yokoi N....Seino S. (Diabetes 2006)
    7. 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)
    8. Hepatocyte nuclear factor 4 alpha ligand binding and F domains mediate interaction and transcriptional synergy with the pancreatic islet LIM HD transcription factor Isl1. (PubMed id 17022998)1, 9 Eeckhoute J....Laine B. (J. Mol. Biol. 2006)
    9. Islet cell and extrapancreatic expression of the LIM domain homeobox gene isl-1. (PubMed id 1685766)1, 9 Dong J....Drucker D.J. (Mol. Endocrinol. 1991)
    10. Beta-catenin directly regulates Islet1 expression in cardiovascular progenitors and is required for multiple aspects of cardiogenesis. (PubMed id 17519333)1, 9 Lin L....Evans S.M. (Proc. Natl. Acad. Sci. U.S.A. 2007)

    (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: 3670 HGNC: 6132 AceView: ISL1 Ensembl:ENSG00000016082 euGenes: HUgn3670
    ECgene: ISL1 H-InvDB: ISL1

    (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 ISL1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ISL1 gene:
    Search GeneIP for patents involving ISL1

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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