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INSIG1 Gene

protein-coding   GIFtS: 59
GCID: GC07P155089

Insulin Induced Gene 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
Insulin Induced Gene 11 2
INSIG-1 Membrane Protein1 2
CL-62
CL62
Insulin-Induced Gene 1 Protein2
INSIG-13

External Ids:    HGNC: 60831   Entrez Gene: 36382   Ensembl: ENSG000001864807   OMIM: 6020555   UniProtKB: O155033   

Export aliases for INSIG1 gene to outside databases

Previous GC identifers: GC07U990053 GC07P154481 GC07P154527 GC07P154720 GC07P148822


(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 INSIG1 Gene:
Oxysterols regulate cholesterol homeostasis through the liver X receptor (LXR)- and sterol regulatory
element-binding protein (SREBP)-mediated signaling pathways. This gene is an insulin-induced gene. It encodes an
endoplasmic reticulum (ER) membrane protein that plays a critical role in regulating cholesterol concentrations
in cells. This protein binds to the sterol-sensing domains of SREBP cleavage-activating protein (SCAP) and HMG
CoA reductase, and is essential for the sterol-mediated trafficking of the two proteins. Alternatively spliced
transcript variants encoding distinct isoforms have been observed. (provided by RefSeq, Jun 2009)

GeneCards Summary for INSIG1 Gene:
INSIG1 (insulin induced gene 1) is a protein-coding gene. Diseases associated with INSIG1 include hcl-v, and hypertriglyceridemia. An important paralog of this gene is INSIG2.

UniProtKB/Swiss-Prot: INSI1_HUMAN, O15503
Function: Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking
the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2
complex in the ER thus preventing it from escorting SREBPs to the Golgi. Initiates the sterol-mediated
ubiquitin-mediated endoplasmic reticulum-associated degradation (ERAD) of HMGCR via recruitment of the reductase
to the ubiquitin ligase, AMFR/gp78. May play a role in growth and differentiation of tissues involved in
metabolic control. May play a regulatory role during G0/G1 transition of cell growth

Gene Wiki entry for INSIG1 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 INSIG1 gene promoter:
         Max1   SRF   SRF (504 AA)   IRF-1   LCR-F1   Egr-4   N-Myc   deltaCREB   SEF-1 (1)   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): INSIG1 promoter sequence
   Search Chromatin IP Primers for INSIG1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat INSIG1


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

Entrez Gene cytogenetic band: 7q36   Ensembl cytogenetic band:  7q36.2   HGNC cytogenetic band: 7q36

INSIG1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INSIG1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P155089:  view genomic region     (about GC identifiers)

Start:
155,089,486 bp from pter      End:
155,101,945 bp from pter
Size:
12,460 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 154,316,806-154,329,270     

(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: INSI1_HUMAN, O15503 (See protein sequence)
Recommended Name: Insulin-induced gene 1 protein  
Size: 277 amino acids; 29987 Da
Subunit: Binds to the SCAP-SREBF2 complex only in the presence of sterols. Interacts with RNF139. Interacts with
HMGCR (via its SSD); the interaction, accelerated by sterols, leads to the recruitment of HMGCR to AMFR/gp78 for
its ubiquitination by the sterol-mediated ERAD pathway. Interacts with AMFR/gp78 (via its membrane domain); the
interaction recruits HMCR at the ER membrane for its ubiquitination and degradation by the sterol-mediated ERAD
pathway
Miscellaneous: Expressed at high levels when nuclear SREBP levels are high as a result of sterol deprivation
1 PDB 3D structure from and Proteopedia for INSIG1:
4J81 (3D)    
Secondary accessions: A4D2N1 A8K6L0 Q53XW8 Q9BUV5
Alternative splicing: 2 isoforms:  O15503-1   O15503-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for INSIG1: NX_O15503

Explore proteomics data for INSIG1 at MOPED

Post-translational modifications: 

  • Ubiquitinated. Subsequent to sterol deprivation, the SCAP-SREBF2 complex becomes dissociated from INSIG1, is then
    ubiquitinated and degraded in proteasomes. Although ubiquitination is required for rapid INSIG1 degradation, it
    is not required for release of the SCAP-SREBP complex. Ubiquitinated by RNF1391
  • Ubiquitination2 at Lys33, Lys156, Lys158, Lys273
  • Modification sites at PhosphoSitePlus

  • See INSIG1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_005533.2  NP_938150.2  NP_938151.1  

    ENSEMBL proteins: 
     ENSP00000344741   ENSP00000414691   ENSP00000344035   ENSP00000420198   ENSP00000340010  
    Reactome Protein details: O15503

    INSIG1 Human Recombinant Protein Products:

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    INSIG1 Assay Products:

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    Cloud-Clone Corp. ELISAs for INSIG1
    Cloud-Clone Corp. CLIAs for INSIG1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR009904 INSIG
     IPR025929 INSIG_fam

    Graphical View of Domain Structure for InterPro Entry O15503

    ProtoNet protein and cluster: O15503

    UniProtKB/Swiss-Prot: INSI1_HUMAN, O15503
    Similarity: Belongs to the INSIG family


    INSIG1 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: INSI1_HUMAN, O15503
    Function: Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking
    the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2
    complex in the ER thus preventing it from escorting SREBPs to the Golgi. Initiates the sterol-mediated
    ubiquitin-mediated endoplasmic reticulum-associated degradation (ERAD) of HMGCR via recruitment of the reductase
    to the ubiquitin ligase, AMFR/gp78. May play a role in growth and differentiation of tissues involved in
    metabolic control. May play a regulatory role during G0/G1 transition of cell growth
    Induction: By insulin

         Genatlas biochemistry entry for INSIG1:
    insulin induced gene 1,playing a role in growth and differention of tissues involved in metabolic control

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12202038
         
    INSIG1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Insig1):
     homeostasis/metabolism  liver/biliary system  mortality/aging 

    INSIG1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Insig1tm1.1Mbjg for INSIG1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for INSIG1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for INSIG1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for INSIG1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for INSIG1

    miRNA
    Products:
        
    miRTarBase miRNAs that target INSIG1:
    hsa-mir-107 (MIRT026975), hsa-mir-215-5p (MIRT024948), hsa-mir-20a-5p (MIRT050481), hsa-mir-335-5p (MIRT018237), hsa-mir-192-5p (MIRT026622), hsa-mir-103a-3p (MIRT027042), hsa-mir-193b-3p (MIRT041286), hsa-mir-100-5p (MIRT048485), hsa-mir-32-5p (MIRT028320), hsa-mir-106b-5p (MIRT044329), hsa-mir-183-5p (MIRT047148), hsa-mir-92a-3p (MIRT048978)

    Block miRNA regulation of human, mouse, rat INSIG1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate INSIG1 (see all 57):
    hsa-miR-21* hsa-miR-26a-2* hsa-miR-607 hsa-miR-300 hsa-miR-218-1* hsa-miR-25 hsa-miR-29a hsa-miR-301a
    SwitchGear 3'UTR luciferase reporter plasmidINSIG1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for INSIG1
    Predesigned siRNA for gene silencing in human, mouse, rat INSIG1

    Gene Editing
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    OriGene clones in human, mouse for INSIG1 (see all 18)
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    GenScript: all cDNA clones in your preferred vector (see all 3): INSIG1 (NM_005542)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INSIG1

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    Browse ESI BIO Cell Lines and PureStem Progenitors for INSIG1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INSIG1


    (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
    INSI1_HUMAN, O15503: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA12202038
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0032937SREBP-SCAP-Insig complex IDA15899885

    INSIG1 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 INSIG1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    SREBP signalling0.31
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Chks in Checkpoint Regulation
    SREBP Proteolysis0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for INSIG1
        SREBP Proteolysis

    1 BioSystems Pathway for INSIG1
        SREBP signalling

    1 Reactome Pathway for INSIG1
        Regulation of cholesterol biosynthesis by SREBP (SREBF)



    INSIG1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including INSIG1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Unfolded Protein Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for INSIG1

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

    Selected Interacting proteins for INSIG1 (O155031, 2, 3 ENSP000003447414) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AMFRQ9UKV53, ENSP000002906494I2D: score=1 STRING: ENSP00000290649
    PSMA7O148183, ENSP000003599104I2D: score=1 STRING: ENSP00000359910
    PSMC3P179803, ENSP000002988524I2D: score=1 STRING: ENSP00000298852
    VCPP550723, ENSP000003517774I2D: score=1 STRING: ENSP00000351777
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006641triglyceride metabolic process IEA--
    GO:0006695cholesterol biosynthetic process IEA--
    GO:0006991response to sterol depletion ----
    GO:0008152metabolic process TAS9268630
    GO:0008203cholesterol metabolic process ----

    INSIG1 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 INSIG1 (INSI1)

    3 Novoseek inferred chemical compound relationships for INSIG1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterol 76.7 5 16399501 (2), 18319320 (1), 12242342 (1), 15073165 (1)
    cholesterol 49.2 12 16399501 (3), 12242342 (2), 12202038 (2), 18989534 (1) (see all 5)
    lipid 20.1 3 15073165 (2), 20064776 (1)



    INSIG1 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 INSIG1 gene (3 alternative transcripts): 
    NM_005542.4  NM_198336.2  NM_198337.2  

    Unigene Cluster for INSIG1:

    Insulin induced gene 1
    Hs.520819  [show with all ESTs]
    Unigene Representative Sequence: NM_005542
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000340368(uc003wly.3 uc003wlz.3) ENST00000425172 ENST00000342407
    ENST00000476756 ENST00000468307 ENST00000344756(uc011kvu.2)
    miRNA
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    Block miRNA regulation of human, mouse, rat INSIG1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate INSIG1 (see all 57):
    hsa-miR-21* hsa-miR-26a-2* hsa-miR-607 hsa-miR-300 hsa-miR-218-1* hsa-miR-25 hsa-miR-29a hsa-miR-301a
    SwitchGear 3'UTR luciferase reporter plasmidINSIG1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat INSIG1
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      QuantiTect SYBR Green Assays in human, mouse, rat INSIG1
      QuantiFast Probe-based Assays in human, mouse, rat INSIG1

    Additional mRNA sequence: 

    AF086365.1 AK095977.1 AK291675.1 AY112745.1 BC001880.1 BT007227.1 

    23 DOTS entries:

    DT.100886430  DT.119206  DT.92058013  DT.97802062  DT.92460840  DT.100886435  DT.100886432  DT.40113830 
    DT.100037239  DT.86997566  DT.95365670  DT.95365683  DT.97848405  DT.99992459  DT.100886428  DT.100886438 
    DT.100886442  DT.100886441  DT.121125182  DT.40298043  DT.97848406  DT.95365667  DT.95365669 

    Selected AceView cDNA sequences (see all 535):

    BM977961 AA565248 BQ278944 CD723751 AW082679 BG696252 AI310368 BI861976 
    CB851732 BU607717 AI569313 BQ436418 CB146538 BI825329 BM763229 BU957651 
    AA629854 AA455936 T34285 CD679467 AV681762 AI816378 BE268206 BU191559 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for INSIG1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
    SP1:                                -                       -                       -                           
    SP2:                                                        -                                                   
    SP3:                                -           -     -     -                                                   
    SP4:                                -                 -     -     -     -           -                           
    SP5:                                                        -                                                   


    ECgene alternative splicing isoforms for INSIG1

    (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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    INSIG1 expression in normal human tissues (normalized intensities)      INSIG1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAAAAATTT
    INSIG1 Expression
    About this image


    INSIG1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Peripheral blood-derived hematopoietic stem cells (family)
    INSIG1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    INSIG1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.520819

    UniProtKB/Swiss-Prot: INSI1_HUMAN, O15503
    Tissue specificity: Expressed in all tissues tested with highest expression in the liver

        Pathway & Disease-focused RT2 Profiler PCR Arrays including INSIG1: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Unfolded Protein Response in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for INSIG1
    OriGene qSTAR qPCR primer pairs in human, mouse for INSIG1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat INSIG1
    QuantiTect SYBR Green Assays in human, mouse, rat INSIG1
    QuantiFast Probe-based Assays in human, mouse, rat INSIG1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INSIG1

    (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 chordates.

    Orthologs for INSIG1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Insig11 , 5 insulin induced gene 11, 5 81.34(n)1
    84.94(a)1
      5 (13.94 cM)5
    2310701  NM_153526.51  NP_705746.11 
     280713635 
    chicken
    (Gallus gallus)
    Aves INSIG11 insulin induced gene 1 78.49(n)
    84.68(a)
      420442  NM_001030966.1  NP_001026137.1 
    lizard
    (Anolis carolinensis)
    Reptilia INSIG16
    insulin induced gene 1
    79(a)
    1 ↔ 1
    6(5579862-5590325)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia insig11 insulin induced gene 1 71.07(n)
    83.2(a)
      780766  NM_001079470.1  NP_001072938.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi35b102 wufi35b10 74.82(n)   334189  AF527626.1 


    ENSEMBL Gene Tree for INSIG1 (if available)
    TreeFam Gene Tree for INSIG1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for INSIG1 gene
    INSIG22  
    1 SIMAP similar gene for INSIG1 using alignment to 5 protein entries:     INSI1_HUMAN (see all proteins):
    INSIG2

    INSIG1 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 INSIG1 (see all 328)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1414172911,2
    --155091249(+) CTCAAC/TTCTAT 3 -- int10--------
    rs1807564111,2
    --155091299(+) CCCCTA/GTCCTT 3 -- int10--------
    rs1145184841,2
    C,F--155091305(+) TCCTTA/GAGCAG 3 -- int11Minor allele frequency- G:0.05WA 118
    rs97678751,2
    C,F,H--155091406(+) CAGCTG/TACTGC 3 -- int125Minor allele frequency- T:0.18NA NS EA WA CSA 2532
    rs1849605641,2
    --155091546(+) AAGCCA/GTCGTT 3 -- int10--------
    rs97678871,2
    C,F--155091579(+) GTAGGT/CGTGTC 3 -- int17Minor allele frequency- C:0.18NA WA EA 366
    rs97711741,2
    C,F,A,H--155091671(+) GGGCTC/GCGTGT 3 -- int18Minor allele frequency- G:0.08NS NA WA EA 486
    rs97703591,2
    C,F,A--155091678(+) GTGTTG/CAAGAA 3 -- int16Minor allele frequency- C:0.15NA WA EA 246
    rs1910760881,2
    --155091717(+) AGTGGA/GTAGAA 3 -- int10--------
    rs121116031,2
    C,F--155091753(+) ACGGGA/TTCCTC 3 -- int18Minor allele frequency- T:0.35NA WA CSA 250

    HapMap Linkage Disequilibrium report for INSIG1 (155089486 - 155101945 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for INSIG1: --
    Human Gene Mutation Database (HGMD): INSIG1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing INSIG1
    DNA2.0 Custom Variant and Variant Library Synthesis for INSIG1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602055    OMIM disorders: --

    9 diseases for INSIG1:    About MalaCards
    hcl-v    hypertriglyceridemia    coronary heart disease    obesity
    atherosclerosis    insulin resistance    schizophrenia    alzheimer's disease
    hepatitis


    INSIG1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): INSIG1
    Human Genome Epidemiology (HuGE) Navigator: INSIG1 (13 documents)

    Export disorders for INSIG1 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 INSIG1 gene, integrated from 10 sources (see all 63):
    (articles sorted by number of sources associating them with INSIG1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, human chromosomal assignment, and adipose and hepatic expression of the CL-6/INSIG1 gene. (PubMed id 9268630)1, 2, 3 Peng Y.... Taub R. (Genomics 1997)
    2. Sterol-regulated ubiquitination and degradation of Insig-1 creates a convergent mechanism for feedback control of cholesterol synthesis and uptake. (PubMed id 16399501)1, 2, 9 Gong Y.... Ye J. (Cell Metab. 2006)
    3. The INSIG1 gene, not the INSIG2 gene, associated with coronary heart disease: tagSNPs and haplotype-based association study. The Beijing Atherosclerosis Study. (PubMed id 18989534)1, 4, 9 Liu X....Gu D. (Thromb. Haemost. 2008)
    4. Crucial step in cholesterol homeostasis: sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER. (PubMed id 12202038)1, 2, 9 Yang T.... Brown M.S. (Cell 2002)
    5. Interactions among genetic variants from SREBP2 activating-related pathway on risk of coronary heart disease in Chinese Han population. (PubMed id 19740467)1, 4, 9 Liu X....Gu D. (Atherosclerosis 2010)
    6. Gp78, a membrane-anchored ubiquitin ligase, associates with Insig-1 and couples sterol-regulated ubiquitination to degradation of HMG CoA reductase. (PubMed id 16168377)1, 2, 9 Song B.L.... DeBose-Boyd R.A. (Mol. Cell 2005)
    7. No association between polymorphisms in the INSIG1 gene and the risk of type 2 diabetes and related traits. (PubMed id 20444954)1, 4 Szopa M....Loos R.J. (Am. J. Clin. Nutr. 2010)
    8. INSIG1 influences obesity-related hypertriglyceridemia in humans. (PubMed id 19965593)1, 4 Smith E.M....Olivier M. (J. Lipid Res. 2010)
    9. The TRC8 ubiquitin ligase is sterol regulated and interacts with lipid and protein biosynthetic pathways. (PubMed id 20068067)1, 2 Lee J.P....Gemmill R.M. (Mol. Cancer Res. 2010)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 3638 HGNC: 6083 AceView: INSIG1 Ensembl:ENSG00000186480 euGenes: HUgn3638
    ECgene: INSIG1 H-InvDB: INSIG1

    (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 INSIG1 Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Insig1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for INSIG1 gene:
    Search GeneIP for patents involving INSIG1

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



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