| 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.