| Tag | Content |
|---|---|
| Uniprot ID | Q8BGI3; A2RSM6; Q3UAX9; Q3UX30; |
| Entrez ID | 231070 |
| Genbank protein ID | AAI32168.1; BAE30185.1; AAN28331.1; BAE24179.1; AAI32500.1; BAE22733.1; BAC40316.1; |
| Genbank nucleotide ID | NM_153526.5 |
| Ensembl protein ID | ENSMUSP00000061877 |
| Ensembl nucleotide ID | ENSMUSG00000045294 |
| Gene name | Insulin-induced gene 1 protein |
| Gene symbol | Insig1 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 16955138 |
| 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 | MPRLHDHVWN YPSAGAARPY SLPRGMIAAA ACPQGPGVPE PEHAPRGQRA GTTGCSARPG 60 SWHHDLVQRS LVLFSFGVVL ALVLNLLQIQ RNVTLFPDEV IATIFSSAWW VPPCCGTAAA 120 VVGLLYPCID SHLGEPHKFK REWASVMRCI AVFVGINHAS AKLDFANNVQ LSLTLAALSL 180 GLWWTFDRSR SGLGLGITIA FLATLITQFL VYNGVYQYTS PDFLYIRSWL PCIFFSGGVT 240 VGNIGRQLAM GVPEKPHSD 259 |
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.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | INSIG1 | 511899 | A0JNC3 | Bos taurus | Prediction | More>> | ||
| 1:1 ortholog | INSIG1 | 475554 | A0A5F4D7Y9 | Canis lupus familiaris | Prediction | More>> | ||
| 1:1 ortholog | INSIG1 | A0A452FSS4 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | INSIG1 | 100065774 | A0A3Q2HPQ1 | Equus caballus | Prediction | More>> | ||
| 1:1 ortholog | INSIG1 | 3638 | O15503 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Insig1 | 231070 | Q8BGI3 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | INSIG1 | 463839 | H2QVN6 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | insig1 | 334189 | Q8AV61 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0006641 | triglyceride metabolic process | IGI |
| GO:0006695 | cholesterol biosynthetic process | IGI |
| GO:0006991 | response to sterol depletion | IDA |
| GO:0008203 | cholesterol metabolic process | IGI |
| GO:0010894 | negative regulation of steroid biosynthetic process | IGI |
| GO:0016126 | sterol biosynthetic process | IGI |
| GO:0032933 | SREBP signaling pathway | ISO |
| GO:0036315 | cellular response to sterol | ISO |
| GO:0036316 | SREBP-SCAP complex retention in endoplasmic reticulum | ISO |
| GO:0042472 | inner ear morphogenesis | IGI |
| GO:0042474 | middle ear morphogenesis | IGI |
| GO:0042632 | cholesterol homeostasis | ISO |
| GO:0045599 | negative regulation of fat cell differentiation | IDA |
| GO:0045717 | negative regulation of fatty acid biosynthetic process | IGI |
| GO:0060021 | roof of mouth development | IGI |
| GO:0060363 | cranial suture morphogenesis | IGI |
| GO:0070862 | negative regulation of protein exit from endoplasmic reticulum | ISO |
| GO:1901303 | negative regulation of cargo loading into COPII-coated vesicle | ISO |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005783 | endoplasmic reticulum | ISO |
| GO:0005783 | endoplasmic reticulum | TAS |
| GO:0032937 | SREBP-SCAP-Insig complex | ISO |
| Reactome ID | Reactome Term | Evidence |
|---|
| Pfam ID | Pfam Term |
|---|---|
| PF07281 | INSIG |