INSIG1 - insulin induced gene 1 Gene

Also Known as CL6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3638

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	References	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	References	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	References	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

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	References
Intra	INSIG1	O15503	AMFR	Homo sapiens	Q9UKV5	Anti Tag CoIP	21343306
Intra	INSIG1	O15503	TMEM237	Homo sapiens	Q96Q45-2	Y2H Prey Pooling	32296183
Intra	INSIG1	O15503	TMEM237	Homo sapiens	Q96Q45-2	Validated Y2H	32296183
Intra	INSIG1	O15503	TMEM237	Homo sapiens	Q96Q45-2	Y2H Array	32296183
Intra	INSIG1	O15503	AQP6	Homo sapiens	Q13520	Validated Y2H	32296183
Intra	INSIG1	O15503	AQP6	Homo sapiens	Q13520	Y2H Array	32296183
Intra	INSIG1	O15503	AQP6	Homo sapiens	Q13520	Y2H Prey Pooling	32296183
Cross	INSIG1	O15503	CYP2C2	Oryctolagus cuniculus	P00181	Anti Tag CoIP	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

Related Agents

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-109056	Elsulfavirine	Inhibitor	99.90%	Unkown

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-109056A	Elsulfavirine sodium	Inhibitor	/	Unkown
HY-121012	(rac)-AG-205		/	Unkown
HY-N20666	Canola oil		/	Unkown
HY-RS06837	INSIG1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17851	Insig1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24319	Insig1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	INSIG1	NCBI