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  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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables oxysterol binding IDA
IDA: Inferred from direct assay
32322062 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12202038 GOA
enables protein sequestering activity IDA
IDA: Inferred from direct assay
15899885 GOA
Biological Process GO Annotation Evidence Reference Source
involved in SREBP signaling pathway IDA
IDA: Inferred from direct assay
12242332 GOA
involved in SREBP-SCAP complex retention in endoplasmic reticulum IDA
IDA: Inferred from direct assay
12202038 GOA
involved in cellular response to sterol IMP
IMP: Inferred from mutant phenotype
12202038 GOA
involved in cholesterol biosynthetic process IDA
IDA: Inferred from direct assay
32322062 GOA
involved in cholesterol homeostasis IDA
IDA: Inferred from direct assay
12202038 GOA
involved in negative regulation of cargo loading into COPII-coated vesicle IMP
IMP: Inferred from mutant phenotype
15899885 GOA
involved in negative regulation of protein exit from endoplasmic reticulum IDA
IDA: Inferred from direct assay
12202038 GOA
Cellular Component GO Annotation Evidence Reference Source
part of SREBP-SCAP-Insig complex IDA
IDA: Inferred from direct assay
12202038 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
12202038 GOA
is active in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
32322062 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

INSIG1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
INSIG1 O15503 AMFR Homo sapiens Q9UKV5 21343306
Intra
INSIG1 O15503 TMEM237 Homo sapiens Q96Q45-2 32296183
Intra
INSIG1 O15503 TMEM237 Homo sapiens Q96Q45-2 32296183
Intra
INSIG1 O15503 TMEM237 Homo sapiens Q96Q45-2 32296183
Intra
INSIG1 O15503 AQP6 Homo sapiens Q13520 32296183
Intra
INSIG1 O15503 AQP6 Homo sapiens Q13520 32296183
Intra
INSIG1 O15503 AQP6 Homo sapiens Q13520 32296183
Cross
INSIG1 O15503 CYP2C2 Oryctolagus cuniculus P00181 21081644
Cross: Cross-species interaction Intra: Intraspecies interaction

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