Human Gene INSIG1 (ENST00000340368.9_4) from GENCODE V47lift37
  Description: insulin induced gene 1, transcript variant 1 (from RefSeq NM_005542.6)
Gencode Transcript: ENST00000340368.9_4
Gencode Gene: ENSG00000186480.13_10
Transcript (Including UTRs)
   Position: hg19 chr7:155,089,588-155,101,945 Size: 12,358 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr7:155,089,996-155,099,980 Size: 9,985 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:155,089,588-155,101,945)mRNA (may differ from genome)Protein (277 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: INSI1_HUMAN
DESCRIPTION: RecName: Full=Insulin-induced gene 1 protein; Short=INSIG-1;
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.
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.
INTERACTION: P00180:CYP2C1 (xeno); NbExp=2; IntAct=EBI-6252425, EBI-6251821; P00181:CYP2C2 (xeno); NbExp=3; IntAct=EBI-6252425, EBI-4320576;
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Expressed in all tissues tested with highest expression in the liver.
INDUCTION: By insulin.
PTM: 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.
MISCELLANEOUS: Expressed at high levels when nuclear SREBP levels are high as a result of sterol deprivation.
SIMILARITY: Belongs to the INSIG family.
WEB RESOURCE: Name=Wikipedia; Note=Insig1 entry; URL="http://en.wikipedia.org/wiki/Insig1";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 145.10 RPKM in Liver
Total median expression: 972.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.60109-0.446 Picture PostScript Text
3' UTR -505.901965-0.257 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009904 - INSIG
IPR025929 - INSIG_fam

Pfam Domains:
PF07281 - Insulin-induced protein (INSIG)

SCOP Domains:
81345 - ABC transporter involved in vitamin B12 uptake, BtuC

ModBase Predicted Comparative 3D Structure on O15503
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0006641 triglyceride metabolic process
GO:0006695 cholesterol biosynthetic process
GO:0006991 response to sterol depletion
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0008283 cell proliferation
GO:0010894 negative regulation of steroid biosynthetic process
GO:0016126 sterol biosynthetic process
GO:0032933 SREBP signaling pathway
GO:0036315 cellular response to sterol
GO:0036316 SREBP-SCAP complex retention in endoplasmic reticulum
GO:0042472 inner ear morphogenesis
GO:0042474 middle ear morphogenesis
GO:0042632 cholesterol homeostasis
GO:0045599 negative regulation of fat cell differentiation
GO:0045717 negative regulation of fatty acid biosynthetic process
GO:0060021 palate development
GO:0060363 cranial suture morphogenesis
GO:0070862 negative regulation of protein exit from endoplasmic reticulum
GO:1901303 negative regulation of cargo loading into COPII-coated vesicle

Cellular Component:
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032937 SREBP-SCAP-Insig complex


-  Descriptions from all associated GenBank mRNAs
  LF206792 - JP 2014500723-A/14295: Polycomb-Associated Non-Coding RNAs.
BC001880 - Homo sapiens insulin induced gene 1, mRNA (cDNA clone MGC:1405 IMAGE:3546928), complete cds.
AK291675 - Homo sapiens cDNA FLJ77500 complete cds, highly similar to Homo sapiens insulin induced gene 1 (INSIG1), transcript variant 1, mRNA.
JD408552 - Sequence 389576 from Patent EP1572962.
BT007227 - Homo sapiens insulin induced gene 1 mRNA, complete cds.
KJ891482 - Synthetic construct Homo sapiens clone ccsbBroadEn_00876 INSIG1 gene, encodes complete protein.
AY112745 - Homo sapiens INSIG-1 membrane protein mRNA, complete cds.
KU720376 - Homo sapiens insulin-induced gene 1 isoform 1 (INSIG1) mRNA, complete cds.
AK095977 - Homo sapiens cDNA FLJ38658 fis, clone HLUNG1000055.
LF357970 - JP 2014500723-A/165473: Polycomb-Associated Non-Coding RNAs.
LF357971 - JP 2014500723-A/165474: Polycomb-Associated Non-Coding RNAs.
LF357973 - JP 2014500723-A/165476: Polycomb-Associated Non-Coding RNAs.
JD228059 - Sequence 209083 from Patent EP1572962.
JD063006 - Sequence 44030 from Patent EP1572962.
JD188297 - Sequence 169321 from Patent EP1572962.
LF357976 - JP 2014500723-A/165479: Polycomb-Associated Non-Coding RNAs.
LF357977 - JP 2014500723-A/165480: Polycomb-Associated Non-Coding RNAs.
AF086365 - Homo sapiens full length insert cDNA clone ZD66D02.
LF357979 - JP 2014500723-A/165482: Polycomb-Associated Non-Coding RNAs.
LF357980 - JP 2014500723-A/165483: Polycomb-Associated Non-Coding RNAs.
LF357981 - JP 2014500723-A/165484: Polycomb-Associated Non-Coding RNAs.
LF357982 - JP 2014500723-A/165485: Polycomb-Associated Non-Coding RNAs.
LF357983 - JP 2014500723-A/165486: Polycomb-Associated Non-Coding RNAs.
LF357984 - JP 2014500723-A/165487: Polycomb-Associated Non-Coding RNAs.
LF357985 - JP 2014500723-A/165488: Polycomb-Associated Non-Coding RNAs.
MA442369 - JP 2018138019-A/14295: Polycomb-Associated Non-Coding RNAs.
MA593547 - JP 2018138019-A/165473: Polycomb-Associated Non-Coding RNAs.
MA593548 - JP 2018138019-A/165474: Polycomb-Associated Non-Coding RNAs.
MA593550 - JP 2018138019-A/165476: Polycomb-Associated Non-Coding RNAs.
MA593553 - JP 2018138019-A/165479: Polycomb-Associated Non-Coding RNAs.
MA593554 - JP 2018138019-A/165480: Polycomb-Associated Non-Coding RNAs.
MA593556 - JP 2018138019-A/165482: Polycomb-Associated Non-Coding RNAs.
MA593557 - JP 2018138019-A/165483: Polycomb-Associated Non-Coding RNAs.
MA593558 - JP 2018138019-A/165484: Polycomb-Associated Non-Coding RNAs.
MA593559 - JP 2018138019-A/165485: Polycomb-Associated Non-Coding RNAs.
MA593560 - JP 2018138019-A/165486: Polycomb-Associated Non-Coding RNAs.
MA593561 - JP 2018138019-A/165487: Polycomb-Associated Non-Coding RNAs.
MA593562 - JP 2018138019-A/165488: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O15503 (Reactome details) participates in the following event(s):

R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF)
R-HSA-8957322 Metabolism of steroids
R-HSA-556833 Metabolism of lipids
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A4D2N1, A8K6L0, ENST00000340368.1, ENST00000340368.2, ENST00000340368.3, ENST00000340368.4, ENST00000340368.5, ENST00000340368.6, ENST00000340368.7, ENST00000340368.8, INSI1_HUMAN, INSIG1 , NM_005542, O15503, Q53XW8, Q9BUV5, uc317vqp.1, uc317vqp.2
UCSC ID: ENST00000340368.9_4
RefSeq Accession: NM_005542.6
Protein: O15503 (aka INSI1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.