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Aliases for INSIG1 Gene

Aliases for INSIG1 Gene

  • Insulin Induced Gene 1 2 3 5
  • INSIG-1 Membrane Protein 2 3
  • Insulin-Induced Gene 1 Protein 3
  • INSIG-1 4
  • CL-6 3
  • CL6 3

External Ids for INSIG1 Gene

Previous GeneCards Identifiers for INSIG1 Gene

  • GC07U990053
  • GC07P154481
  • GC07P154527
  • GC07P154720
  • GC07P155089
  • GC07P148822

Summaries for INSIG1 Gene

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. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Chks in Checkpoint Regulation. An important paralog of this gene is INSIG2.

UniProtKB/Swiss-Prot for INSIG1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INSIG1 Gene

Genomics for INSIG1 Gene

Regulatory Elements for INSIG1 Gene

Enhancers for INSIG1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around INSIG1 on UCSC Golden Path with GeneCards custom track

Promoters for INSIG1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around INSIG1 on UCSC Golden Path with GeneCards custom track

Genomic Location for INSIG1 Gene

Chromosome:
7
Start:
155,297,776 bp from pter
End:
155,310,235 bp from pter
Size:
12,460 bases
Orientation:
Plus strand

Genomic View for INSIG1 Gene

Genes around INSIG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INSIG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INSIG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INSIG1 Gene

Proteins for INSIG1 Gene

  • Protein details for INSIG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15503-INSI1_HUMAN
    Recommended name:
    Insulin-induced gene 1 protein
    Protein Accession:
    O15503
    Secondary Accessions:
    • A4D2N1
    • A8K6L0
    • Q53XW8
    • Q9BUV5

    Protein attributes for INSIG1 Gene

    Size:
    277 amino acids
    Molecular mass:
    29987 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for INSIG1 Gene

    Alternative splice isoforms for INSIG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INSIG1 Gene

Post-translational modifications for INSIG1 Gene

  • 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 RNF139.
  • Ubiquitination at Lys 33, Lys 156, Lys 158, and Lys 273
  • Modification sites at PhosphoSitePlus

Other Protein References for INSIG1 Gene

No data available for DME Specific Peptides for INSIG1 Gene

Domains & Families for INSIG1 Gene

Protein Domains for INSIG1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for INSIG1 Gene

Graphical View of Domain Structure for InterPro Entry

O15503

UniProtKB/Swiss-Prot:

INSI1_HUMAN :
  • Belongs to the INSIG family.
Family:
  • Belongs to the INSIG family.
genes like me logo Genes that share domains with INSIG1: view

No data available for Gene Families for INSIG1 Gene

Function for INSIG1 Gene

Molecular function for INSIG1 Gene

GENATLAS Biochemistry:
insulin induced gene 1,playing a role in growth and differention of tissues involved in metabolic control
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By insulin.

Gene Ontology (GO) - Molecular Function for INSIG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12202038
genes like me logo Genes that share ontologies with INSIG1: view
genes like me logo Genes that share phenotypes with INSIG1: view

Animal Models for INSIG1 Gene

MGI Knock Outs for INSIG1:

Animal Model Products

CRISPR Products

miRNA for INSIG1 Gene

miRTarBase miRNAs that target INSIG1

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for INSIG1 Gene

Localization for INSIG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for INSIG1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for INSIG1 Gene COMPARTMENTS Subcellular localization image for INSIG1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytosol 2
extracellular 1
golgi apparatus 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for INSIG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 12202038
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0032937 SREBP-SCAP-Insig complex IDA 15899885
genes like me logo Genes that share ontologies with INSIG1: view

Pathways & Interactions for INSIG1 Gene

genes like me logo Genes that share pathways with INSIG1: view

Pathways by source for INSIG1 Gene

1 Qiagen pathway for INSIG1 Gene

Gene Ontology (GO) - Biological Process for INSIG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006641 triglyceride metabolic process IEA --
GO:0006695 cholesterol biosynthetic process IEA --
GO:0006991 response to sterol depletion IEA --
GO:0008152 metabolic process TAS 9268630
GO:0008203 cholesterol metabolic process IEA --
genes like me logo Genes that share ontologies with INSIG1: view

No data available for SIGNOR curated interactions for INSIG1 Gene

Drugs & Compounds for INSIG1 Gene

(1) Drugs for INSIG1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for INSIG1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with INSIG1: view

Transcripts for INSIG1 Gene

Unigene Clusters for INSIG1 Gene

Insulin induced gene 1:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for INSIG1 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
SP1: - - -
SP2: -
SP3: - - - -
SP4: - - - - - -
SP5: -
SP6: -

Relevant External Links for INSIG1 Gene

GeneLoc Exon Structure for
INSIG1
ECgene alternative splicing isoforms for
INSIG1

Expression for INSIG1 Gene

mRNA expression in normal human tissues for INSIG1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for INSIG1 Gene

This gene is overexpressed in Liver (x10.2).

Protein differential expression in normal tissues from HIPED for INSIG1 Gene

This gene is overexpressed in Adipocyte (39.1) and Fetal ovary (29.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for INSIG1 Gene



Protein tissue co-expression partners for INSIG1 Gene

NURSA nuclear receptor signaling pathways regulating expression of INSIG1 Gene:

INSIG1

SOURCE GeneReport for Unigene cluster for INSIG1 Gene:

Hs.520819

mRNA Expression by UniProt/SwissProt for INSIG1 Gene:

O15503-INSI1_HUMAN
Tissue specificity: Expressed in all tissues tested with highest expression in the liver.
genes like me logo Genes that share expression patterns with INSIG1: view

Primer Products

Orthologs for INSIG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for INSIG1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia INSIG1 34
  • 81.52 (n)
  • 85.51 (a)
INSIG1 35
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia INSIG1 34
  • 80.44 (n)
  • 85.24 (a)
INSIG1 35
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Insig1 34
  • 81.34 (n)
  • 84.94 (a)
Insig1 16
Insig1 35
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia INSIG1 34
  • 99.64 (n)
  • 99.28 (a)
INSIG1 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Insig1 34
  • 80.57 (n)
  • 85.33 (a)
oppossum
(Monodelphis domestica)
Mammalia INSIG1 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INSIG1 35
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves INSIG1 34
  • 78.49 (n)
  • 84.68 (a)
INSIG1 35
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia INSIG1 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia insig1 34
  • 71.07 (n)
  • 83.2 (a)
zebrafish
(Danio rerio)
Actinopterygii insig1 34
  • 67.86 (n)
  • 76.49 (a)
wufi35b10 34
insig1 35
  • 76 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2198 34
Species where no ortholog for INSIG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for INSIG1 Gene

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

Paralogs for INSIG1 Gene

Paralogs for INSIG1 Gene

(1) SIMAP similar genes for INSIG1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with INSIG1: view

Variants for INSIG1 Gene

Sequence variations from dbSNP and Humsavar for INSIG1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_027683 -
rs9689982 -- 155,304,389(+) TTGCT(G/T)TGAGA intron-variant
rs9690044 -- 155,300,701(+) AGTTC(A/G)TGTCT intron-variant
rs9690097 -- 155,301,955(+) ATATA(C/T)ATAAT intron-variant
rs9690181 -- 155,300,924(+) AGCCT(A/G)TGTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for INSIG1 Gene

Variant ID Type Subtype PubMed ID
nsv1144204 CNV deletion 24896259
nsv609124 CNV loss 21841781
nsv609126 CNV loss 21841781

Variation tolerance for INSIG1 Gene

Residual Variation Intolerance Score: 62.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for INSIG1 Gene

Human Gene Mutation Database (HGMD)
INSIG1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INSIG1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INSIG1 Gene

Disorders for INSIG1 Gene

Relevant External Links for INSIG1

Genetic Association Database (GAD)
INSIG1
Human Genome Epidemiology (HuGE) Navigator
INSIG1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
INSIG1

No disorders were found for INSIG1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for INSIG1 Gene

Publications for INSIG1 Gene

  1. Interactions among genetic variants from SREBP2 activating-related pathway on risk of coronary heart disease in Chinese Han population. (PMID: 19740467) Liu X. … Gu D. (Atherosclerosis 2010) 3 22 46 65
  2. The INSIG1 gene, not the INSIG2 gene, associated with coronary heart disease: tagSNPs and haplotype-based association study. The Beijing Atherosclerosis Study. (PMID: 18989534) Liu X. … Gu D. (Thromb. Haemost. 2008) 3 22 46 65
  3. Sterol-regulated ubiquitination and degradation of Insig-1 creates a convergent mechanism for feedback control of cholesterol synthesis and uptake. (PMID: 16399501) Gong Y. … Ye J. (Cell Metab. 2006) 3 4 22 65
  4. Gp78, a membrane-anchored ubiquitin ligase, associates with Insig-1 and couples sterol-regulated ubiquitination to degradation of HMG CoA reductase. (PMID: 16168377) Song B.L. … DeBose-Boyd R.A. (Mol. Cell 2005) 3 4 22 65
  5. Crucial step in cholesterol homeostasis: sterols promote binding of SCAP to INSIG-1, a membrane protein that facilitates retention of SREBPs in ER. (PMID: 12202038) Yang T. … Brown M.S. (Cell 2002) 3 4 22 65

Products for INSIG1 Gene

Sources for INSIG1 Gene

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