1. Gene
  2. INSIG1 - insulin induced gene 1 Gene

INSIG1 - insulin induced gene 1 Gene

Homo sapiens

Also known as CL6

Gene ID: 3638 | Gene type: protein coding

About INSIG1

Cytogenetic location: 7q36.3 Genomic coordinates (GRCh38): 7:155,297,878-155,310,235 (from NCBI)

This gene has 6 transcripts (splice variants), 202 orthologues and 1 paralogue. Ubiquitous expression in liver (RPKM 104.0), fat (RPKM 35.8) and 24 other tissues.

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]

INSIG1 Products(8)

mRNA Protein Name
NM_001346590.2 NP_001333519.1 insulin-induced gene 1 protein isoform 4
NM_001346591.2 NP_001333520.1 insulin-induced gene 1 protein isoform 4
NM_001346592.2 NP_001333521.1 insulin-induced gene 1 protein isoform 1
NM_001346593.2 NP_001333522.1 insulin-induced gene 1 protein isoform 3
NM_001346594.2 NP_001333523.1 insulin-induced gene 1 protein isoform 5
NM_005542.6 NP_005533.2 insulin-induced gene 1 protein isoform 1
NM_198336.4 NP_938150.2 insulin-induced gene 1 protein isoform 2
NM_198337.4 NP_938151.1 insulin-induced gene 1 protein isoform 3

INSIG1 Protein Structure

INSIG

INSIG: Insulin-induced protein (INSIG) (85 - 267)

  • 0
  • 100
  • 200
  • 277 a.a.
Protein Preferred Names Protein Names

insulin-induced gene 1 protein

INSIG-1 membrane protein

Related Diseases

Diseases Alias
Smith-Lemli-Opitz Syndrome

SLOS

Rsh Syndrome

7-Dehydrocholesterol Reductase Deficiency

Slo Syndrome

Rutledge Lethal Multiple Congenital Anomaly Syndrome

Lethal Acrodysgenital Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung

Smith-Opitz-Inborn Syndrome

Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung

Smith Lemli Opitz Syndrome

Smith-Lemli-Opitz Syndrome, Type Ii

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus INSIG1 RGD RGD:708457
Felis catus INSIG1 VGNC VGNC:102617
Bos taurus INSIG1 VGNC VGNC:30217
Canis familiaris INSIG1 VGNC VGNC:42039
Macaca mulatta INSIG1 VGNC VGNC:81335
Mus musculus INSIG1 MGD MGI:1916289