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-methy... See more...

Aliases for INSIG1 Gene

Aliases for INSIG1 Gene

  • Insulin Induced Gene 1 2 3 5
  • Insulin-Induced Gene 1 Protein 3 4
  • INSIG-1 Membrane Protein 2 3
  • MGC1405 2
  • INSIG-1 4
  • INSIG1 5
  • CL-6 2
  • 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

  • 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]

GeneCards Summary for INSIG1 Gene

INSIG1 (Insulin Induced Gene 1) is a Protein Coding gene. Diseases associated with INSIG1 include Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency and Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF) and Metabolism. An important paralog of this gene is INSIG2.

UniProtKB/Swiss-Prot Summary for INSIG1 Gene

  • Oxysterol-binding protein that mediates feedback control of cholesterol synthesis by controlling both endoplasmic reticulum to Golgi transport of SCAP and degradation of HMGCR (PubMed:12202038, PubMed:12535518, PubMed:16168377, PubMed:16399501, PubMed:16606821, PubMed:32322062). Acts as a negative regulator of cholesterol biosynthesis by mediating the retention of the SCAP-SREBP complex in the endoplasmic reticulum, thereby blocking the processing of sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:12202038, PubMed:16399501, PubMed:32322062). Binds oxysterol, including 25-hydroxycholesterol, regulating interaction with SCAP and retention of the SCAP-SREBP complex in the endoplasmic reticulum (PubMed:32322062). In presence of oxysterol, interacts with SCAP, retaining the SCAP-SREBP complex in the endoplasmic reticulum, thereby preventing SCAP from escorting SREBF1/SREBP1 and SREBF2/SREBP2 to the Golgi (PubMed:15899885, PubMed:32322062). Sterol deprivation or phosphorylation by PCK1 reduce oxysterol-binding, disrupting the interaction between INSIG1 and SCAP, thereby promoting Golgi transport of the SCAP-SREBP complex, followed by processing and nuclear translocation of SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:32322062). Also regulates cholesterol synthesis by regulating degradation of HMGCR: initiates the sterol-mediated ubiquitin-mediated endoplasmic reticulum-associated degradation (ERAD) of HMGCR via recruitment of the reductase to the ubiquitin ligases AMFR/gp78 and/or RNF139 (PubMed:12535518, PubMed:16168377, PubMed:22143767). Also regulates degradation of SOAT2/ACAT2 when the lipid levels are low: initiates the ubiquitin-mediated degradation of SOAT2/ACAT2 via recruitment of the ubiquitin ligases AMFR/gp78 (PubMed:28604676).

Gene Wiki entry for INSIG1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for INSIG1 Gene

Genomics for INSIG1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for INSIG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J155295 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +1.0 999 6.1 SP1 ZNF207 MYC IKZF1 ZNF600 ZNF580 ZNF592 POLR2A ZNF10 NFIC INSIG1-DT HSALNG0062567-001 INSIG1 RBM33 PAXIP1 EN2
GH07J155213 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.1 -83.5 -83457 1.8 MYC IKZF1 ZSCAN16 ZIC2 YY1 BHLHE40 CTBP1 RXRA ZNF843 POLR2A LOC105375586 INSIG1 ENSG00000228521 SHH ENSG00000287865 lnc-INSIG1-4 lnc-PAXIP1-23 HTR5A
GH07J155344 Promoter/Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas 13.5 +47.0 46976 0.9 MYC IKZF1 ZNF592 NONO BCL11A CTCF REST SIN3A BHLHE40 TBP INSIG1 BLACE INSIG1-DT LOC105375592 HSALNG0062573 EN2
GH07J155203 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 7.7 -90.9 -90918 5.8 SP1 ZNF207 NCOR1 MYC IKZF1 ZNF600 JUND ZNF592 ATF2 POLR2A RBM33 PAXIP1-AS2 PAXIP1 ENSG00000273183 PAXIP1-DT ENSG00000228521 INSIG1 SHH ENSG00000287865 lnc-PAXIP1-23
GH07J155324 Enhancer 0.9 ENCODE 12.1 +26.4 26380 0.1 NCOR1 IKZF1 NFIC NONO HES1 MBD2 MNT ARNT NFATC3 TAF9B HSALNG0062571 INSIG1 RF00017-6245 EN2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around INSIG1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for INSIG1

Top Transcription factor binding sites by QIAGEN in the INSIG1 gene promoter:
  • c-Myc
  • deltaCREB
  • Egr-4
  • IRF-1
  • LCR-F1
  • Max1
  • N-Myc
  • SEF-1 (1)
  • SRF
  • SRF (504 AA)

Genomic Locations for INSIG1 Gene

Latest Assembly
chr7:155,297,776-155,310,235
(GRCh38/hg38)
Size:
12,460 bases
Orientation:
Plus strand

Previous Assembly
chr7:155,089,588-155,101,945
(GRCh37/hg19 by Entrez Gene)
Size:
12,358 bases
Orientation:
Plus strand

chr7:155,089,486-155,101,945
(GRCh37/hg19 by Ensembl)
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:
    • Interacts with SCAP; interaction is direct and only takes place in the presence of sterols; it prevents interaction between SCAP and the coat protein complex II (COPII) (PubMed:15899885, PubMed:32322062). Associates with the SCAP-SREBP complex (composed of SCAP and SREBF1/SREBP1 or SREBF2/SREBP2); association is mediated via its interaction with SCAP and only takes place in the presence of sterols (PubMed:12202038, PubMed:16399501, PubMed:32322062). 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 (PubMed:12535518). 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 (PubMed:16168377, PubMed:22143767). Interacts with SOAT2/ACAT2; leading to promote recruitment of AMFR/gp78 and subsequent ubiquitination of SOAT2/ACAT2 (PubMed:28604676). Interacts with RNF139 (PubMed:20068067, PubMed:22143767). Interacts with RNF145 (PubMed:29374057).

    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

  • Phosphorylation at Ser-207 by PCK1 reduces binding to oxysterol, disrupting the interaction between INSIG1 and SCAP, thereby promoting nuclear translocation of SREBP proteins (SREBF1/SREBP1 or SREBF2/SREBP2) and subsequent transcription of downstream lipogenesis-related genes.
  • Ubiquitinated by AMFR/gp78 in response to sterol deprivation, leading to its degradation: when the SCAP-SREBP complex becomes dissociated from INSIG1, INSIG1 is then ubiquitinated and degraded in proteasomes (PubMed:16399501, PubMed:17043353). Although ubiquitination is required for rapid INSIG1 degradation, it is not required for release of the SCAP-SREBP complex (PubMed:16399501). Ubiquitinated by RNF139 (PubMed:20068067).
  • Ubiquitination at Lys33, Lys156, Lys158, and Lys273
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for INSIG1
  • Boster Bio Antibodies for INSIG1
  • Santa Cruz Biotechnology (SCBT) Antibodies for INSIG1

No data available for DME Specific Peptides for INSIG1 Gene

Domains & Families for INSIG1 Gene

Gene Families for INSIG1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for INSIG1 Gene

InterPro:

Suggested Antigen Peptide Sequences for INSIG1 Gene

GenScript: Design optimal peptide antigens:
  • Insulin induced gene 1, isoform CRA_c (A4D2M9_HUMAN)
  • Insulin-induced gene 1 protein (INSI1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15503

UniProtKB/Swiss-Prot:

INSI1_HUMAN :
  • The KxHxx motif mediates association with the coatomer complex.
  • Belongs to the INSIG family.
Domain:
  • The KxHxx motif mediates association with the coatomer complex.
  • Binds oxysterols in a pocket within their transmembrane domains and interacts with SCAP via transmembrane domains 3 and 4.
Family:
  • Belongs to the INSIG family.
genes like me logo Genes that share domains with INSIG1: view

Function for INSIG1 Gene

Molecular function for INSIG1 Gene

UniProtKB/Swiss-Prot Function:
Oxysterol-binding protein that mediates feedback control of cholesterol synthesis by controlling both endoplasmic reticulum to Golgi transport of SCAP and degradation of HMGCR (PubMed:12202038, PubMed:12535518, PubMed:16168377, PubMed:16399501, PubMed:16606821, PubMed:32322062). Acts as a negative regulator of cholesterol biosynthesis by mediating the retention of the SCAP-SREBP complex in the endoplasmic reticulum, thereby blocking the processing of sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:12202038, PubMed:16399501, PubMed:32322062). Binds oxysterol, including 25-hydroxycholesterol, regulating interaction with SCAP and retention of the SCAP-SREBP complex in the endoplasmic reticulum (PubMed:32322062). In presence of oxysterol, interacts with SCAP, retaining the SCAP-SREBP complex in the endoplasmic reticulum, thereby preventing SCAP from escorting SREBF1/SREBP1 and SREBF2/SREBP2 to the Golgi (PubMed:15899885, PubMed:32322062). Sterol deprivation or phosphorylation by PCK1 reduce oxysterol-binding, disrupting the interaction between INSIG1 and SCAP, thereby promoting Golgi transport of the SCAP-SREBP complex, followed by processing and nuclear translocation of SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:32322062). Also regulates cholesterol synthesis by regulating degradation of HMGCR: initiates the sterol-mediated ubiquitin-mediated endoplasmic reticulum-associated degradation (ERAD) of HMGCR via recruitment of the reductase to the ubiquitin ligases AMFR/gp78 and/or RNF139 (PubMed:12535518, PubMed:16168377, PubMed:22143767). Also regulates degradation of SOAT2/ACAT2 when the lipid levels are low: initiates the ubiquitin-mediated degradation of SOAT2/ACAT2 via recruitment of the ubiquitin ligases AMFR/gp78 (PubMed:28604676).
UniProtKB/Swiss-Prot Induction:
By insulin (PubMed:9268630). Expressed at high levels when nuclear SREBP levels are high as a result of sterol deprivation (PubMed:16399501).
GENATLAS Biochemistry:
insulin induced gene 1,playing a role in growth and differention of tissues involved in metabolic control

Phenotypes From GWAS Catalog for INSIG1 Gene

Gene Ontology (GO) - Molecular Function for INSIG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12202038
GO:0008142 oxysterol binding IDA 32322062
GO:0008289 lipid binding IEA --
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:

miRNA for INSIG1 Gene

miRTarBase miRNAs that target INSIG1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INSIG1

Clone products for research

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INSIG1 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
extracellular 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
lysosome 2
golgi apparatus 2
cytoskeleton 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for INSIG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA 12202038
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0032937 SREBP-SCAP-Insig complex IBA,IDA 12202038
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
  • SREBP Proteolysis

Gene Ontology (GO) - Biological Process for INSIG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006641 triglyceride metabolic process IEA --
GO:0006695 cholesterol biosynthetic process IBA,IDA 32322062
GO:0006991 response to sterol depletion IEA --
GO:0008202 steroid 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

mRNA/cDNA for INSIG1 Gene

8 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for INSIG1

Clone products for research

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

Expression for INSIG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for INSIG1 Gene



Protein tissue co-expression partners for INSIG1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for INSIG1 Gene

  • Skin(4.7)
  • Nervous system(4.5)
  • Liver(4.1)
  • Blood(3.3)
  • Lung(2.7)
  • Pancreas(2.6)
  • Intestine(2.4)
  • Kidney(2.4)
  • Muscle(2.3)
  • Eye(2.2)
  • Stomach(2.1)
  • Heart(2.1)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with INSIG1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for INSIG1 Gene

Orthologs for INSIG1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for INSIG1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia INSIG1 29 30
  • 99.64 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia INSIG1 30
  • 83 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia INSIG1 29 30
  • 81.52 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Insig1 29 16 30
  • 81.34 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia INSIG1 30
  • 81 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Insig1 29
  • 80.57 (n)
Dog
(Canis familiaris)
Mammalia INSIG1 29 30
  • 80.44 (n)
OneToOne
Chicken
(Gallus gallus)
Aves INSIG1 29 30
  • 78.49 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia INSIG1 30
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia insig1 29
  • 71.07 (n)
Zebrafish
(Danio rerio)
Actinopterygii insig1 29 30
  • 67.86 (n)
OneToOne
wufi35b10 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2198 29
Species where no ortholog for INSIG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for INSIG1: view image
Alliance of Genome Resources:
Additional Orthologs for INSIG1

Paralogs for INSIG1 Gene

Paralogs for INSIG1 Gene

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

  • INSI1_HUMAN
  • A4D2M9_HUMAN
  • C9JSG8_HUMAN
  • F5H6P3_HUMAN
  • H7C5L3_HUMAN
genes like me logo Genes that share paralogs with INSIG1: view

Variants for INSIG1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for INSIG1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs61740679 Benign: not provided 155,302,843(+) T/C
NM_005542.6(INSIG1):c.801T>C (p.Ala267=)
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs1129825 -- p.Ala27Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for INSIG1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for INSIG1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for INSIG1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for INSIG1 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for INSIG1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with INSIG1: view

No data available for 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 40
  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 (Thrombosis and haemostasis 2008) 3 22 40
  3. Sterol-regulated degradation of Insig-1 mediated by the membrane-bound ubiquitin ligase gp78. (PMID: 17043353) Lee JN … Ye J (The Journal of biological chemistry 2006) 3 4 22
  4. 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 metabolism 2006) 3 4 22
  5. Gp78, a membrane-anchored ubiquitin ligase, associates with Insig-1 and couples sterol-regulated ubiquitination to degradation of HMG CoA reductase. (PMID: 16168377) Song BL … DeBose-Boyd RA (Molecular cell 2005) 3 4 22

Products for INSIG1 Gene

Sources for INSIG1 Gene