Gene Gene information from NCBI Gene database.
Entrez ID 3638
Gene name Insulin induced gene 1
Gene symbol INSIG1
Synonyms (NCBI Gene)
CL6
Chromosome 7
Chromosome location 7q36.3
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-
miRNA miRNA information provided by mirtarbase database.
657
miRTarBase ID miRNA Experiments Reference
MIRT018237 hsa-miR-335-5p Microarray 18185580
MIRT024948 hsa-miR-215-5p Microarray 19074876
MIRT026622 hsa-miR-192-5p Microarray 19074876
MIRT026975 hsa-miR-107 Microarray 20489155
MIRT027042 hsa-miR-103a-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12202038, 15899885, 16168377, 21081644, 21343306, 32296183
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IDA 12202038, 32322062
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 32322062
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602055 6083 ENSG00000186480
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15503
Protein name Insulin-induced gene 1 protein (INSIG-1)
Protein function Oxysterol-binding protein that mediates feedback control of cholesterol synthesis by controlling both endoplasmic reticulum to Golgi transport of SCAP and degradation of HMGCR (PubMed:12202038, PubMed:12535518, PubMed:16168377, PubMed:16399501,
PDB 4J81
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07281 INSIG 86 267 Insulin-induced protein (INSIG) Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested with highest expression in the liver. {ECO:0000269|PubMed:12202038}.
Sequence
Sequence length 277
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Hyperplasia Congenital Congenital adrenal hyperplasia Pubtator 23570880 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 26830138
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 12376462
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 31323021
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 35795669 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma CTD_human_DG 12376462
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 25912578 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Spindle-Cell Carcinoma CTD_human_DG 12376462
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 37087475 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 18989534
★☆☆☆☆
Found in Text Mining only