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INSIG1 insulin induced gene 1 [ Homo sapiens (human) ]

Gene ID: 3638, updated on 4-May-2020

Summary

Official Symbol
INSIG1provided by HGNC
Official Full Name
insulin induced gene 1provided by HGNC
Primary source
HGNC:HGNC:6083
See related
Ensembl:ENSG00000186480 MIM:602055
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CL6
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-sensing domains of sterol regulatory element-binding protein (SREBP) cleavage-activating protein (SCAP) and 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase), and is essential for the sterol-mediated trafficking of these two proteins. It promotes the endoplasmic reticulum retention of SCAP and the ubiquitin-mediated degradation of HMG-CoA reductase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
Expression
Ubiquitous expression in liver (RPKM 104.0), fat (RPKM 35.8) and 24 other tissues See more
Orthologs

Genomic context

See INSIG1 in Genome Data Viewer
Location:
7q36.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (155297772..155310235)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (155089486..155101945)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375588 Neighboring gene uncharacterized LOC105375589 Neighboring gene uncharacterized LOC105375591 Neighboring gene CRISPRi-validated cis-regulatory element chr7.5881 Neighboring gene uncharacterized LOC105375592 Neighboring gene uncharacterized LOC105375593 Neighboring gene B cell acute lymphoblastic leukemia expressed

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide interaction study of smoking and bladder cancer risk.
NHGRI GWA Catalog
PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif upregulates the expression of insulin induced gene 1 (INSIG1) in Vif-expression T cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1405

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
SREBP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SREBP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
SREBP-SCAP complex retention in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SREBP-SCAP complex retention in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to insulin stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to sterol IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
cholesterol homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cranial suture morphogenesis IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
middle ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cargo loading into COPII-coated vesicle IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of protein exit from endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
sterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
SREBP-SCAP-Insig complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SREBP-SCAP-Insig complex IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
insulin-induced gene 1 protein
Names
INSIG-1 membrane protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001346590.1NP_001333519.1  insulin-induced gene 1 protein isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate exon in the 3' coding region which results in a frameshift, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is longer than isoform 1. Variants 4 and 5 encode the same protein.
    Source sequence(s)
    AC144652, AC231970, AK095977, BC001880, BM995866, DA590854, DA738378
    UniProtKB/Swiss-Prot
    O15503
    UniProtKB/TrEMBL
    A4D2M9
  2. NM_001346591.1NP_001333520.1  insulin-induced gene 1 protein isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and contains an alternate exon in the 3' coding region which results in a frameshift, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is longer than isoform 1. Variants 4 and 5 encode the same protein.
    Source sequence(s)
    AC144652, AC231970, AK095977, BC001880, BM995866, DA590854, DB034358, HY070608
    UniProtKB/Swiss-Prot
    O15503
    UniProtKB/TrEMBL
    A4D2M9
  3. NM_001346592.1NP_001333521.1  insulin-induced gene 1 protein isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, compared to variant 1. Variants 1 and 6 encode the same protein.
    Source sequence(s)
    AC144652, AC231970, AK095977, BC001880, BM995866, BT007227, HY070608
    Consensus CDS
    CCDS5938.1
    UniProtKB/Swiss-Prot
    O15503
    UniProtKB/TrEMBL
    A0A024RD68
    Conserved Domains (1) summary
    pfam07281
    Location:87267
    INSIG; Insulin-induced protein (INSIG)
  4. NM_001346593.1NP_001333522.1  insulin-induced gene 1 protein isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR, and lacks two exons in the coding region which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1. Variants 3 and 7 encode the same protein.
    Source sequence(s)
    AC144652, AC231970, AK095977, BC001880, BM995866, BT007227, BU177114, HY070608
    Consensus CDS
    CCDS5939.1
    UniProtKB/Swiss-Prot
    O15503
  5. NM_001346594.1NP_001333523.1  insulin-induced gene 1 protein isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) uses an alternate in-frame splice site in the coding region, compared to variant 1. The encoded isoform (5) is longer than isoform 1.
    Source sequence(s)
    AC144652, AC231970, AK095977, BC001880, BI460711, BM995866, DA738378
    UniProtKB/Swiss-Prot
    O15503
  6. NM_005542.6NP_005533.2  insulin-induced gene 1 protein isoform 1

    See identical proteins and their annotated locations for NP_005533.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants 1 and 6 encode the same protein.
    Source sequence(s)
    AC231970, AK095977, BC001880, BM995866
    Consensus CDS
    CCDS5938.1
    UniProtKB/Swiss-Prot
    O15503
    UniProtKB/TrEMBL
    A0A024RD68
    Related
    ENSP00000344741.4, ENST00000340368.9
    Conserved Domains (1) summary
    pfam07281
    Location:87267
    INSIG; Insulin-induced protein (INSIG)
  7. NM_198336.3NP_938150.2  insulin-induced gene 1 protein isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC144652, AC231970, AK095977, BC001880, BM995866, DA590854, DA738378, DA775024
    UniProtKB/Swiss-Prot
    O15503
    UniProtKB/TrEMBL
    F5H6P3
    Related
    ENSP00000340010.4, ENST00000344756.8
    Conserved Domains (1) summary
    pfam07281
    Location:25115
    INSIG; Insulin-induced protein (INSIG)
  8. NM_198337.3NP_938151.1  insulin-induced gene 1 protein isoform 3

    See identical proteins and their annotated locations for NP_938151.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks two exons in the coding region which results in a frameshift and an early stop codon, compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1. Variants 3 and 7 encode the same protein.
    Source sequence(s)
    AC144652, AC231970, AK095977, BC001880, BM995866, DA738378, DN996424
    Consensus CDS
    CCDS5939.1
    UniProtKB/Swiss-Prot
    O15503
    Related
    ENSP00000344035.5, ENST00000342407.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    155297772..155310235
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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