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    INSIG1 insulin induced gene 1 [ Homo sapiens (human) ]

    Gene ID: 3638, updated on 8-Jul-2018
    Official Symbol
    INSIG1provided by HGNC
    Official Full Name
    insulin induced gene 1provided by HGNC
    Primary source
    HGNC:HGNC:6083
    See related
    Ensembl:ENSG00000186480 MIM:602055; Vega:OTTHUMG00000151330
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CL6
    Summary
    This gene encodes an endoplasmic reticulum membrane protein that regulates cholesterol metabolism, lipogenesis, and glucose homeostasis. The encoded protein has six transmembrane helices which contain an effector protein binding site. It binds the sterol-sensing domains of sterol regulatory element-binding protein (SREBP) cleavage-activating protein (SCAP) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase), and is essential for the sterol-mediated trafficking of these two proteins. It promotes the endoplasmic reticulum retention of SCAP and the ubiquitin-mediated degradation of HMG-CoA reductase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in liver (RPKM 104.0), fat (RPKM 35.8) and 24 other tissues See more
    Orthologs
    See INSIG1 in Genome Data Viewer
    Location:
    7q36.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (155297772..155310235)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (155089486..155101945)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375588 Neighboring gene uncharacterized LOC105375589 Neighboring gene uncharacterized LOC105375591 Neighboring gene uncharacterized LOC105375592 Neighboring gene uncharacterized LOC105375593 Neighboring gene B cell acute lymphoblastic leukemia expressed

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide interaction study of smoking and bladder cancer risk.
    NHGRI GWA Catalog
    PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif upregulates the expression of insulin induced gene 1 (INSIG1) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Regulation of cholesterol biosynthesis by SREBP (SREBF), organism-specific biosystem (from REACTOME)
      Regulation of cholesterol biosynthesis by SREBP (SREBF), organism-specific biosystemSterol regulatory element binding proteins (SREBPs, SREBFs) respond to low cholesterol concentrations by transiting to the nucleus and activating genes involved in cholesterol and lipid biosynthesis ...
    • Sterol Regulatory Element-Binding Proteins (SREBP) signalling, organism-specific biosystem (from WikiPathways)
      Sterol Regulatory Element-Binding Proteins (SREBP) signalling, organism-specific biosystemSterol regulatory element-binding proteins (SREBPs) are membrane-bound proteins that act as transcription factors. They regulate lipid, especially cholesterol, biosynthesis and uptake at a transcript...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC1405

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    SREBP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SREBP-SCAP complex retention in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    cellular response to sterol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cranial suture morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    middle ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cargo loading into COPII-coated vesicle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of fat cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of fatty acid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein exit from endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of steroid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
     
    triglyceride metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    SREBP-SCAP-Insig complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    insulin-induced gene 1 protein
    Names
    INSIG-1 membrane protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001346590.1NP_001333519.1  insulin-induced gene 1 protein isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 3' coding region which results in a frameshift, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is longer than isoform 1. Variants 4 and 5 encode the same protein.
      Source sequence(s)
      AC144652, AC231970, AK095977, BC001880, BM995866, DA590854, DA738378
      UniProtKB/Swiss-Prot
      O15503
      UniProtKB/TrEMBL
      A4D2M9
    2. NM_001346591.1NP_001333520.1  insulin-induced gene 1 protein isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and contains an alternate exon in the 3' coding region which results in a frameshift, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is longer than isoform 1. Variants 4 and 5 encode the same protein.
      Source sequence(s)
      AC144652, AC231970, AK095977, BC001880, BM995866, DA590854, DB034358, HY070608
      UniProtKB/Swiss-Prot
      O15503
      UniProtKB/TrEMBL
      A4D2M9
    3. NM_001346592.1NP_001333521.1  insulin-induced gene 1 protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1 and 6 encode the same protein.
      Source sequence(s)
      AC144652, AC231970, AK095977, BC001880, BM995866, BT007227, HY070608
      Consensus CDS
      CCDS5938.1
      UniProtKB/Swiss-Prot
      O15503
      UniProtKB/TrEMBL
      A0A024RD68
      Conserved Domains (1) summary
      pfam07281
      Location:87267
      INSIG; Insulin-induced protein (INSIG)
    4. NM_001346593.1NP_001333522.1  insulin-induced gene 1 protein isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR, and lacks two exons in the coding region which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1. Variants 3 and 7 encode the same protein.
      Source sequence(s)
      AC144652, AC231970, AK095977, BC001880, BM995866, BT007227, BU177114, HY070608
      Consensus CDS
      CCDS5939.1
      UniProtKB/Swiss-Prot
      O15503
    5. NM_001346594.1NP_001333523.1  insulin-induced gene 1 protein isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (5) is longer than isoform 1.
      Source sequence(s)
      AC144652, AC231970, AK095977, BC001880, BI460711, BM995866, DA738378
      UniProtKB/Swiss-Prot
      O15503
    6. NM_005542.5NP_005533.2  insulin-induced gene 1 protein isoform 1

      See identical proteins and their annotated locations for NP_005533.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 6 encode the same protein.
      Source sequence(s)
      AC144652, AC231970, AK095977, BC001880, BM995866, DA738378
      Consensus CDS
      CCDS5938.1
      UniProtKB/Swiss-Prot
      O15503
      UniProtKB/TrEMBL
      A0A024RD68
      Related
      ENSP00000344741.4, OTTHUMP00000216469, ENST00000340368.8, OTTHUMT00000322244
      Conserved Domains (1) summary
      pfam07281
      Location:87267
      INSIG; Insulin-induced protein (INSIG)
    7. NM_198336.3NP_938150.2  insulin-induced gene 1 protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AC144652, AC231970, AK095977, BC001880, BM995866, DA590854, DA738378, DA775024
      UniProtKB/Swiss-Prot
      O15503
      UniProtKB/TrEMBL
      F5H6P3
      Related
      ENSP00000340010.4, ENST00000344756.8
      Conserved Domains (1) summary
      pfam07281
      Location:25115
      INSIG; Insulin-induced protein (INSIG)
    8. NM_198337.3NP_938151.1  insulin-induced gene 1 protein isoform 3

      See identical proteins and their annotated locations for NP_938151.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two exons in the coding region which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1. Variants 3 and 7 encode the same protein.
      Source sequence(s)
      AC144652, AC231970, AK095977, BC001880, BM995866, DA738378, DN996424
      Consensus CDS
      CCDS5939.1
      UniProtKB/Swiss-Prot
      O15503
      Related
      ENSP00000344035.5, OTTHUMP00000216470, ENST00000342407.5, OTTHUMT00000322246

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

      Range
      155297772..155310235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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