Gene: INSIG1

Basic information

Tag Content
Uniprot ID O15503; A4D2N1; A8K6L0; Q53XW8; Q9BUV5;
Entrez ID 3638
Genbank protein ID AAB69121.1; AAM44086.1; AAP35891.1; BAF84364.1; EAX04529.1; EAL23729.1; EAX04530.1; AAH01880.1; EAL23730.1;
Genbank nucleotide ID NM_001346594.1; NM_005542.5; XM_017012177.1; NM_198337.3; NM_198336.3; NM_001346590.1; NM_001346591.1; NM_001346593.1; NM_001346592.1;
Ensembl protein ID ENSP00000344035; ENSP00000344741;
Ensembl nucleotide ID ENSG00000186480
Gene name Insulin-induced gene 1 protein
Gene symbol INSIG1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Initiates the sterol-mediated ubiquitin-mediated endoplasmic reticulum-associated degradation (ERAD) of HMGCR via recruitment of the reductase to the ubiquitin ligase, AMFR/gp78. May play a role in growth and differentiation of tissues involved in metabolic control. May play a regulatory role during G0/G1 transition of cell growth.
Sequence
MPRLHDHFWS CSCAHSARRR GPPRASAAGL AAKVGEMINV SVSGPSLLAA HGAPDADPAP 60
RGRSAAMSGP EPGSPYPNTW HHRLLQRSLV LFSVGVVLAL VLNLLQIQRN VTLFPEEVIA 120
TIFSSAWWVP PCCGTAAAVV GLLYPCIDSH LGEPHKFKRE WASVMRCIAV FVGINHASAK 180
LDFANNVQLS LTLAALSLGL WWTFDRSRSG LGLGITIAFL ATLITQFLVY NGVYQYTSPD 240
FLYIRSWLPC IFFSGGVTVG NIGRQLAMGV PEKPHSD 277

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)