INSIG1 insulin induced gene 1
Gene ID: 3638, updated on 17-Jun-2024Gene type: protein coding
Also known as: CL6
- See all available tests in GTR for this gene
- Go to complete Gene record for INSIG1
- Go to Variation Viewer for INSIG1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide interaction study of smoking and bladder cancer risk. GeneReviews: Not available | |
| PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies. GeneReviews: Not available |
Genomic context
- Location:
- 7q36.3
- Sequence:
- Chromosome: 7; NC_000007.14 (155297878..155310235)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for INSIG1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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