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)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologINSIG1511899A0JNC3Bos taurusPredictionMore>>
1:1 orthologINSIG1475554A0A5F4D7Y9Canis lupus familiarisPredictionMore>>
1:1 orthologINSIG1A0A452FSS4Capra hircusPredictionMore>>
1:1 orthologINSIG1100065774A0A3Q2HPQ1Equus caballusPredictionMore>>
1:1 orthologINSIG13638O15503Homo sapiensPredictionMore>>
1:1 orthologInsig1231070Q8BGI3CPOMus musculusPublicationMore>>
1:1 orthologINSIG1463839H2QVN6Pan troglodytesPredictionMore>>
1:1 orthologinsig1334189Q8AV61Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0006641 triglyceride metabolic processIEA
GO:0006695 cholesterol biosynthetic processIEA
GO:0010894 negative regulation of steroid biosynthetic processIEA
GO:0032933 SREBP signaling pathwayIDA
GO:0036315 cellular response to sterolIMP
GO:0036316 SREBP-SCAP complex retention in endoplasmic reticulumIDA
GO:0042472 inner ear morphogenesisIEA
GO:0042474 middle ear morphogenesisIEA
GO:0042632 cholesterol homeostasisIDA
GO:0045599 negative regulation of fat cell differentiationIEA
GO:0045717 negative regulation of fatty acid biosynthetic processIEA
GO:0060021 roof of mouth developmentIEA
GO:0060363 cranial suture morphogenesisIEA
GO:0070862 negative regulation of protein exit from endoplasmic reticulumIDA
GO:1901303 negative regulation of cargo loading into COPII-coated vesicleIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005783 endoplasmic reticulumIDA
GO:0005789 endoplasmic reticulum membraneTAS
GO:0032937 SREBP-SCAP-Insig complexIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1430728 MetabolismIEA
R-HSA-1655829 Regulation of cholesterol biosynthesis by SREBP (SREBF)IEA
R-HSA-556833 Metabolism of lipidsIEA
R-HSA-8957322 Metabolism of steroidsIEA

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0153 Cholesterol metabolism
KW-0903 Direct protein sequencing
KW-0256 Endoplasmic reticulum
KW-1017 Isopeptide bond
KW-0443 Lipid metabolism
KW-0472 Membrane
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0753 Steroid metabolism
KW-1207 Sterol metabolism
KW-0812 Transmembrane
KW-1133 Transmembrane helix
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR009904 INSIG-1
IPR025929 INSIG_fam

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF07281 INSIG

Protein-protein interaction

Protein-miRNA interaction