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INSM1 Gene

protein-coding   GIFtS: 53
GCID: GC20P020348

Insulinoma-Associated 1

  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
Insulinoma-Associated 11 2
IA12 3 5
Zinc Finger Protein IA-12 3
IA-12
Insulinoma-Associated Protein 12

External Ids:    HGNC: 60901   Entrez Gene: 36422   Ensembl: ENSG000001734047   OMIM: 6000105   UniProtKB: Q011013   

Export aliases for INSM1 gene to outside databases

Previous GC identifers: GC20P020336 GC20P020343 GC20P020296


(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 INSM1 Gene:
Insulinoma-associated 1 (INSM1) gene is intronless and encodes a protein containing both a zinc finger DNA-binding
domain and a putative prohormone domain. This gene is a sensitive marker for neuroendocrine differentiation of
human lung tumors. (provided by RefSeq, Jul 2008)

GeneCards Summary for INSM1 Gene:
INSM1 (insulinoma-associated 1) is a protein-coding gene. Diseases associated with INSM1 include cervix uteri carcinoma in situ, and insulinoma. An important paralog of this gene is INSM2.

UniProtKB/Swiss-Prot: INSM1_HUMAN, Q01101
Function: Sequence-specific DNA-binding transcriptional regulator that plays a key role in neurogenesis and
neuroendocrine cell differentiation during embryonic and/or fetal development. Binds to the consensus sequence
5'-[TG][TC][TC][TT][GA]GGG[CG]A-3' in target promoters. Acts as a transcriptional repressor of NEUROD1 and INS
expression via its interaction with cyclin CCND1 in a cell cycle-independent manner. Negatively regulates
skeletal muscle-specific gene expression in endocrine cells of the pituitary by inhibiting the Notch signaling
pathway. Represses target gene transcription by recruiting chromatin-modifying factors, such as HDAC1, HDAC2,
HDAC3, KDM1A and RCOR1 histone deacetylases. Binds to its own promoter, suggesting autoregulation as a
self-control feedback mechanism. Promotes the generation and expansion of neuronal basal progenitor cells in the
developing neocortex. Involved in the differentiation of endocrine cells of the developing anterior pituitary
gland, of the pancreas and intestine, and of sympatho-adrenal cells in the peripheral nervous system. Promotes
cell cycle signaling arrest and inhibition of cellular proliferation

Gene Wiki entry for INSM1 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_000020.11  NC_018931.2  NT_011387.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the INSM1 gene promoter:
         MEF-2A   Sp1   aMEF-2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidINSM1 promoter sequence
   Search Chromatin IP Primers for INSM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat INSM1


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

Entrez Gene cytogenetic band: 20p11.2   Ensembl cytogenetic band:  20p11.23   HGNC cytogenetic band: 20p11.2

INSM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INSM1 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P020348:  view genomic region     (about GC identifiers)

Start:
20,348,765 bp from pter      End:
20,351,593 bp from pter
Size:
2,829 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: INSM1_HUMAN, Q01101 (See protein sequence)
Recommended Name: Insulinoma-associated protein 1  
Size: 510 amino acids; 52923 Da
Subunit: Interacts (via the SNAG domain) with HDAC1. Interacts (via the SNAG domain) with HDAC2. Interacts (via
the SNAG domain) with KDM1A. Interacts (via the SNAG domain) with RCOR1. Interacts with SORBS1 (By similarity).
Interacts (via the N-terminus region) with CCND1 (via cyclin N-terminal domain); the interaction competes with
the binding of CCND1 to CDK4 during cell cycle progression and increases its transcriptional repressor activity.
Interacts with HDAC3; the interaction increases its transcriptional repressor activity. Interacts with HDAC1
2 PDB 3D structures from and Proteopedia for INSM1:
2LV2 (3D)        3ZMS (3D)    

Explore the universe of human proteins at neXtProt for INSM1: NX_Q01101

Explore proteomics data for INSM1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See INSM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002187.1  
    ENSEMBL proteins: 
     ENSP00000312631  
    Reactome Protein details: Q01101

    INSM1 Human Recombinant Protein Products:

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    INSM1 Assay Products:

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    Cloud-Clone Corp. CLIAs for INSM1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR015880 Znf_C2H2-like
     IPR013087 Znf_C2H2/integrase_DNA-bd
     IPR007087 Znf_C2H2

    Graphical View of Domain Structure for InterPro Entry Q01101

    ProtoNet protein and cluster: Q01101

    1 Blocks protein domain: IPB007086 C2H2-type zinc finger signature

    UniProtKB/Swiss-Prot: INSM1_HUMAN, Q01101
    Domain: The C-terminal region is necessary for NEUROD1 promoter DNA-binding and transcriptional repressor activity
    Similarity: Belongs to the INSM1 family
    Similarity: Contains 5 C2H2-type zinc fingers


    INSM1 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: INSM1_HUMAN, Q01101
    Function: Sequence-specific DNA-binding transcriptional regulator that plays a key role in neurogenesis and
    neuroendocrine cell differentiation during embryonic and/or fetal development. Binds to the consensus sequence
    5'-[TG][TC][TC][TT][GA]GGG[CG]A-3' in target promoters. Acts as a transcriptional repressor of NEUROD1 and INS
    expression via its interaction with cyclin CCND1 in a cell cycle-independent manner. Negatively regulates
    skeletal muscle-specific gene expression in endocrine cells of the pituitary by inhibiting the Notch signaling
    pathway. Represses target gene transcription by recruiting chromatin-modifying factors, such as HDAC1, HDAC2,
    HDAC3, KDM1A and RCOR1 histone deacetylases. Binds to its own promoter, suggesting autoregulation as a
    self-control feedback mechanism. Promotes the generation and expansion of neuronal basal progenitor cells in the
    developing neocortex. Involved in the differentiation of endocrine cells of the developing anterior pituitary
    gland, of the pancreas and intestine, and of sympatho-adrenal cells in the peripheral nervous system. Promotes
    cell cycle signaling arrest and inhibition of cellular proliferation
    Induction: Up-regulated by transcription factors, such as MASH1, NEUROD1, NEUROG3, NGN3 and TCF3

         Genatlas biochemistry entry for INSM1:
    insulinoma and other neuroendocrine tumor cell lines,intron less gene

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001047core promoter binding IDA11842116
    GO:0003700sequence-specific DNA binding transcription factor activity IDA11842116
    GO:0030332cyclin binding IPI16569215
    GO:0031490chromatin DNA binding IDA16569215
    GO:0042826histone deacetylase binding IPI16569215
         
    INSM1 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Insm1):
     cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland  homeostasis/metabolism 
     mortality/aging  nervous system  no phenotypic analysis  respiratory system  taste/olfaction 

    INSM1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for INSM1: Insm1tm1.1Jga Insm1tm1Jga

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for INSM1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for INSM1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for INSM1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for INSM1

    miRNA
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    Block miRNA regulation of human, mouse, rat INSM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate INSM1 (see all 38):
    hsa-miR-548j hsa-miR-128 hsa-miR-3653 hsa-miR-3658 hsa-miR-889 hsa-miR-186 hsa-miR-548d-5p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidINSM1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for INSM1
    Predesigned siRNA for gene silencing in human, mouse, rat INSM1

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for INSM1

    Clone
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    GenScript: all cDNA clones in your preferred vector: INSM1 (NM_002196)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for INSM1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat INSM1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for INSM1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INSM1


    (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
    INSM1_HUMAN, Q01101: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2
    mitochondrion1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS--
    GO:0005654nucleoplasm TAS--
    GO:0017053transcriptional repressor complex IDA16569215

    INSM1 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 INSM1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of beta-cell development
    Regulation of beta-cell development0.64
    Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells0.00
    2L1CAM interactions
    Developmental Biology0.63

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for INSM1
        Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells



    INSM1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for INSM1
    Interactions:

        GeneGlobe Interaction Network for INSM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for INSM1 (Q011012, 3 ENSP000003126314) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MPP3Q133682, 3MINT-64787 I2D: score=4 
    ENSG00000258947Q135093, ENSP000003202954I2D: score=2 STRING: ENSP00000320295
    SORBS1Q9BX663, ENSP000003551364I2D: score=2 STRING: ENSP00000360272 STRING: ENSP00000355136
    TUBB3Q135093I2D: score=2 
    HDAC3O153793, ENSP000003029674I2D: score=1 STRING: ENSP00000302967
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    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA11842116
    GO:0001933negative regulation of protein phosphorylation IDA19124461
    GO:0003309type B pancreatic cell differentiation ISS--
    GO:0003310pancreatic A cell differentiation ISS--
    GO:0003323type B pancreatic cell development IEA--

    INSM1 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 INSM1

    1 Novoseek inferred chemical compound relationship for INSM1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    zinc 34.9 4 12890672 (2), 8364910 (1)



    INSM1 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 INSM1 gene: 
    NM_002196.2  

    Unigene Cluster for INSM1:

    Insulinoma-associated 1
    Hs.89584  [show with all ESTs]
    Unigene Representative Sequence: NM_002196
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000310227(uc002wrx.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat INSM1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate INSM1 (see all 38):
    hsa-miR-548j hsa-miR-128 hsa-miR-3653 hsa-miR-3658 hsa-miR-889 hsa-miR-186 hsa-miR-548d-5p hsa-miR-548a-5p
    SwitchGear 3'UTR luciferase reporter plasmidINSM1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat INSM1
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat INSM1
      QuantiTect SYBR Green Assays in human, mouse, rat INSM1
      QuantiFast Probe-based Assays in human, mouse, rat INSM1

    Additional mRNA sequence: M93119.1 

    1 DOTS entry:

    DT.311010 

    Selected AceView cDNA sequences (see all 77):

    BM129674 BU787491 M93119 BQ129933 NM_002196 CB068045 CA773550 AI797055 
    AI738960 R39604 BM717336 AI634481 AI298358 CK819629 F10984 BE502873 
    BU739149 CA775535 BM504775 BU787765 AI692594 AI702216 CD105804 BE222336 

    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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    INSM1 expression in normal human tissues (normalized intensities)      INSM1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCTAGAAAT
    INSM1 Expression
    About this image


    INSM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 21 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
             Pancreatic endoderm/endocrine precursor-like cells
     
     Neural Tube (Nervous System)    fully expand to see all 7 entries
             Mesencephalic Ventricular Zone
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Epithalamus
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Gut Tube (Gastrointestinal Tract)
             Pharynx
    INSM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    INSM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.89584

    UniProtKB/Swiss-Prot: INSM1_HUMAN, Q01101
    Tissue specificity: Expressed in pancreatic duct cells. Expressed in several tumor cell lines of neuroendocrine
    origin including pheochromocytoma, medullary thyroid carcinoma, insulinoma, medulloblastoma, retinoblastoma,
    pheochromacytoma, medullary thyroid carcinoma and small cell lung carcinoma

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INSM1

    (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 INSM1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Insm11 , 5 insulinoma-associated 11, 5 87.06(n)1
    87.65(a)1
      2 (71.33 cM)5
    536261  NM_016889.31  NP_058585.21 
     1462219215 
    lizard
    (Anolis carolinensis)
    Reptilia INSM16
    insulinoma-associated 1
    55(a)
    1 ↔ 1
    4(80682945-80684096)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.147332 Xenopus laevis transcribed sequence with weak similarity to protein pirA42750 (H.sapiens) A42750 insulinoma-associated protein IA-1 - human less 81.7(n)    BG552346.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc13a092 wufc13a09 79.85(n)   323882  BC053119.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nerfin-23   -- 37(a)   85F9   --
    worm
    (Caenorhabditis elegans)
    Secernentea egl-466
    Protein EGL-46 (egl-46) mRNA, complete cds
    29(a)
    1 → many
    V(6679329-6681573) WBGene00001210


    ENSEMBL Gene Tree for INSM1 (if available)
    TreeFam Gene Tree for INSM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for INSM1 gene
    INSM22  

    INSM1 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 INSM1 (see all 76)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs791262811,2
    C,F--20347054(+) TAAGCG/ATAAGT 1 -- us2k11Minor allele frequency- A:0.10WA 118
    rs1382596111,2
    C--20347329(+) GCGGA-/GGTGGG
            
    GGTGG
    1 -- us2k10--------
    rs1492037731,2
    C--20347441(+) GATTG-/CCCCCC 1 -- us2k10--------
    rs1435992391,2
    C--20347799(+) TGGGTA/CGGGCC 1 -- us2k10--------
    rs1166382301,2
    F--20348152(+) TTGTTT/GATTTC 1 -- us2k11Minor allele frequency- G:0.06WA 118
    rs1381462651,2
    --20348210(+) ACCGCC/TCCGGC 1 -- us2k10--------
    rs1931617001,2
    --20348241(+) TCAGCA/GCGCAC 1 -- us2k10--------
    rs81172591,2
    C,F,H--20348253(+) ACTTCC/TCCCTC 1 -- us2k1 trp317Minor allele frequency- T:0.14NS EA NA WA 2340
    rs1146843471,2
    F--20348335(+) GCGACC/TCGCGG 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs349174211,2
    C,F--20348536(+) GCGACG/CAGGGG 1 -- us2k11Minor allele frequency- C:0.00NA 2

    HapMap Linkage Disequilibrium report for INSM1 (20348765 - 20351593 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for INSM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2666074CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing INSM1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600010    OMIM disorders: --

    13 diseases for INSM1:    About MalaCards
    cervix uteri carcinoma in situ    insulinoma    neuroendocrine tumor    pituitary tumors
    primitive neuroectodermal tumor    lung cancer    herpes simplex    pheochromocytoma
    hiv-1    thyroiditis    cerebritis    pancreatitis
    neuronitis


    INSM1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for INSM1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    insulinoma 72.1 7 1634555 (2), 11854618 (2), 11842116 (1), 8188699 (1)
    pituitary tumors 58.5 1 9245732 (1)
    neuroendocrine tumors 57.6 2 8188699 (1), 9245732 (1)
    lung tumor 49.3 2 8188699 (1), 8364910 (1)
    small cell lung cancer 44.9 1 8364910 (1)
    tumors 20.5 6 11842116 (1), 8188699 (1), 9245732 (1), 8364910 (1) (see all 5)


    Export disorders for INSM1 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 INSM1 gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with INSM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. INSM1 functions as a transcriptional repressor of the neuroD/beta2 gene through the recruitment of cyclin D1 and histone deacetylases. (PubMed id 16569215)1, 2, 3, 9 Liu W.D....Lan M.S. (Biochem. J. 2006)
    2. Genomic organization, 5'-upstream sequence, and chromosomal localization of an insulinoma-associated intronless gene, IA-1. (PubMed id 8188699)1, 2, 3, 9 Lan M.S.... Notkins A.L. (J. Biol. Chem. 1994)
    3. Neuroendocrine differentiation factor, IA-1, is a transcriptional repressor and contains a specific DNA-binding domain: identification of consensus IA-1 binding sequence. (PubMed id 11842116)1, 2, 9 Breslin M.B....Lan M.S. (Nucleic Acids Res. 2002)
    4. IA1 is NGN3-dependent and essential for differentiation of the endocrine pancreas. (PubMed id 16511571)1, 2, 9 Mellitzer G....Heimberg H. (EMBO J. 2006)
    5. NeuroD1/E47 regulates the E-box element of a novel zinc finger transcription factor, IA-1, in developing nervous system. (PubMed id 12890672)1, 2, 9 Breslin M.B....Lan M.S. (J. Biol. Chem. 2003)
    6. A novel human insulinoma-associated cDNA, IA-1, encodes a protein with 'zinc-finger' DNA-binding motifs. (PubMed id 1634555)1, 2, 9 Goto Y....Lan M.S. (J. Biol. Chem. 1992)
    7. Zinc finger transcription factor INSM1 interrupts cyclin D1 and CDK4 binding and induces cell cycle arrest. (PubMed id 19124461)1, 2 Zhang T.... Lan M.S. (J. Biol. Chem. 2009)
    8. Structure, expression, and biological function of INSM1 transcription factor in neuroendocrine differentiation. (PubMed id 19246490)1, 2 Lan M.S. and Breslin M.B. (FASEB J. 2009)
    9. Identification of an INSM1-binding site in the insulin promoter: negative regulation of the insulin gene transcription. (PubMed id 18417529)1, 2 Wang H.W....Lan M.S. (J. Endocrinol. 2008)
    10. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)

    (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: 3642 HGNC: 6090 AceView: INSM1 Ensembl:ENSG00000173404 euGenes: HUgn3642
    ECgene: INSM1 H-InvDB: INSM1

    (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 INSM1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for INSM1 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 INSM1 gene:
    Search GeneIP for patents involving INSM1

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



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