• Gene id: 3638

Gene Summary

• Gene Symbol: INSIG1   Gene   UCSC   Ensembl
• Aliases: CL6
• Gene name: insulin induced gene 1
• Alternate names: insulin-induced gene 1 protein, INSIG-1 membrane protein,
• Gene location: 7q36.3 (155297771: 155310234)     Exons: 7     NC_000007.14
• Gene summary(Entrez): 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-
• OMIM: 602055

Protein Summary

• Protein general information: O15503  
  • Name: Insulin induced gene 1 protein (INSIG 1)
  • Length: 277  
  • Mass: 29987
  • Tissue specificity: Expressed in all tissues tested with highest expression in the liver. {ECO
• Sequence:

  MPRLHDHFWSCSCAHSARRRGPPRASAAGLAAKVGEMINVSVSGPSLLAAHGAPDADPAPRGRSAAMSGPEPGSP
  YPNTWHHRLLQRSLVLFSVGVVLALVLNLLQIQRNVTLFPEEVIATIFSSAWWVPPCCGTAAAVVGLLYPCIDSH
  LGEPHKFKREWASVMRCIAVFVGINHASAKLDFANNVQLSLTLAALSLGLWWTFDRSRSGLGLGITIAFLATLIT
  QFLVYNGVYQYTSPDFLYIRSWLPCIFFSGGVTVGNIGRQLAMGVPEKPHSD

• Structural information:
  • Interpro: IPR009904  IPR025929  
  • PDB: 4J81
  • PDBsum: 4J81
  • DIP: 61157
  • STRING: ENSP00000344741
• Other Databases: GeneCards:  INSIG1  Malacards:  INSIG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032937	SREBP-SCAP-Insig complex	IBA	cellular component
GO:0032933	SREBP signaling pathway	IBA	biological process
GO:0032869	cellular response to insulin stimulus	IBA	biological process
GO:0006695	cholesterol biosynthetic process	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0036316	SREBP-SCAP complex retention in endoplasmic reticulum	IBA	biological process
GO:0016126	sterol biosynthetic process	IBA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060363	cranial suture morphogenesis	IEA	biological process
GO:0060021	roof of mouth development	IEA	biological process
GO:0042474	middle ear morphogenesis	IEA	biological process
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0010894	negative regulation of steroid biosynthetic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006641	triglyceride metabolic process	IEA	biological process
GO:0045717	negative regulation of fatty acid biosynthetic process	IEA	biological process
GO:0045599	negative regulation of fat cell differentiation	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0006991	response to sterol depletion	IEA	biological process
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0032937	SREBP-SCAP-Insig complex	IDA	cellular component
GO:0036316	SREBP-SCAP complex retention in endoplasmic reticulum	IDA	biological process
GO:0032933	SREBP signaling pathway	IDA	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0032937	SREBP-SCAP-Insig complex	IDA	cellular component
GO:0042632	cholesterol homeostasis	IDA	biological process
GO:0070862	negative regulation of protein exit from endoplasmic reticulum	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0036315	cellular response to sterol	IMP	biological process
GO:1901303	negative regulation of cargo loading into COPII-coated vesicle	IMP	biological process

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray