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    INSC inscuteable homolog (Drosophila) [ Homo sapiens (human) ]

    Gene ID: 387755, updated on 13-Jun-2013
    Official Symbol
    INSCprovided by HGNC
    Official Full Name
    inscuteable homolog (Drosophila)provided by HGNC
    Primary source
    HGNC:33116
    See related
    Ensembl:ENSG00000188487; MIM:610668; Vega:OTTHUMG00000165838
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    In Drosophila, neuroblasts divide asymmetrically into another neuroblast at the apical side and a smaller ganglion mother cell on the basal side. Cell polarization is precisely regulated by 2 apically localized multiprotein signaling complexes that are tethered by Inscuteable, which regulates their apical localization (Izaki et al., 2006 [PubMed 16458856]).[supplied by OMIM, Mar 2008]
    Location :
    11p15.2
    Sequence :
    Chromosome: 11; NC_000011.9 (15133970..15268754)
    See INSC in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene olfactory receptor, family 7, subfamily E, member 41 pseudogene Neighboring gene uncharacterized LOC440031 Neighboring gene calcitonin-related polypeptide beta Neighboring gene SRY (sex determining region Y)-box 6 Neighboring gene aldo-keto reductase family 1, member B1 pseudogene 3

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661.
    2. Proteomics strategy to identify substrates of LNX, a PDZ domain-containing E3 ubiquitin ligase. Guo Z, et al. J Proteome Res, 2012 Oct 5. PMID 22889411.
    3. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. Tao S, et al. Carcinogenesis, 2012 Mar. PMID 22219177.
    4. Structural basis for interaction between the conserved cell polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched protein (LGN). Yuzawa S, et al. Proc Natl Acad Sci U S A, 2011 Nov 29. PMID 22074847.
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614.

    See all (9) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. mInsc-LGN interaction is vital for stabilization of LGN and for intracellular localization of mInsc.
      Title: Structural basis for interaction between the conserved cell polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched protein (LGN).
    2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    3. These data present AGS3, G-proteins, and mInsc as candidate proteins involved in regulating cellular stress associated with protein-processing pathologies.
      Title: Distribution of activator of G-protein signaling 3 within the aggresomal pathway: role of specific residues in the tetratricopeptide repeat domain and differential regulation by the AGS3 binding partners Gi(alpha) and mammalian inscuteable.
    4. cloning of two distinct cDNAs from Insc gene, which is differentially expressed from alternative first exons;Insc proteins bind to the Pins homologues LGN and AGS3, and also to Par3 and Par3beta
      Title: Two forms of human Inscuteable-related protein that links Par3 to the Pins homologues LGN and AGS3.
    Submit: New GeneRIF Correction

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    Inscuteable homolog Q86YR5 GPSM1    HPRD  PubMed  
    Inscuteable homolog P81274 GPSM2    HPRD  PubMed  
    Inscuteable homolog Q8TEW0 PARD3    HPRD  PubMed  
    Inscuteable homolog Q8TEW8 PARD3B    HPRD  PubMed  
    BioGRID:132426 BioGRID:124219 LNX1    BioGRID  PubMed Two-hybrid 

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    establishment of mitotic spindle orientation IEA
    Inferred from Electronic Annotation
    more info
    		  
    lung epithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    protein inscuteable homolog
    Names
    protein inscuteable homolog

    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_001031853.4 → NP_001027024.3  protein inscuteable homolog isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AB236159, DY654442
      Consensus CDS
      CCDS41621.1
      UniProtKB/Swiss-Prot
      Q1MX18
      Related
      ENSP00000368872, OTTHUMP00000231221, ENST00000379554, OTTHUMT00000386590

    2. NM_001042536.2 → NP_001036001.1  protein inscuteable homolog isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate exon at the 5' end, which results in a downstream start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2 and 3 encode the same isoform b.
      Source sequence(s)
      AB236158, BU147420, DY654442
      Consensus CDS
      CCDS41622.1
      UniProtKB/Swiss-Prot
      Q1MX18
      Related
      ENSP00000368874, OTTHUMP00000231222, ENST00000379556, OTTHUMT00000386591

    3. NM_001278313.1 → NP_001265242.1  protein inscuteable homolog isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon at the 5' end but has an alternate segment, which results in a downstream start codon, compared to variant 1. The resulting isoform (b) has a shorter N-terminus, compared to isoform a. Variants 2 and 3 encode the same isoform b.
      Source sequence(s)
      AB231745, AB236158, BC127700, DY654442

    4. NM_001278314.1 → NP_001265243.1  protein inscuteable homolog isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. The resulting isoform (c) is shorter at the N-terminus and has an additional internal segment, compared to isoform a.
      Source sequence(s)
      AB236158, AC090744, BC127700, DY654442

    5. NM_001278315.1 → NP_001265244.1  protein inscuteable homolog isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. The resulting isoform (d) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AB236158, BC127700, DY654442

    6. NM_001278316.1 → NP_001265245.1  protein inscuteable homolog isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. The resulting isoform (e) is shorter at the N-terminus and lacks an internal segment, compared to isoform a.
      Source sequence(s)
      AB236158, BC117561, BC127700, DY654442

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p10 Primary Assembly

      Range
      15133970..15268754
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      14817520..14952207
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018922.1 Alternate CHM1_1.0

      Range
      15057301..15192075
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01061094.1 (103385..149095) None
    genomic ABBA01061095.1 None
    genomic ABBA01061096.1 None
    genomic AC090744.5 (15774..150558) None
    genomic AMYH01003406.1 (391969..394405) None
    genomic AMYH01003407.1 None
    mRNA AB231744.1 BAE46891.1
    mRNA AB231745.1 BAE17133.1
    mRNA AB231746.1 BAE17134.1
    mRNA AB231747.1 BAE17135.1
    mRNA AB231748.1 BAE17136.1
    mRNA AB231749.1 BAE46892.1
    mRNA AB236158.1 BAE93463.1
    mRNA AB236159.1 BAE93464.1
    mRNA BC117561.1 None
    mRNA BC127700.1 AAI27701.1
    mRNA BU147420.1 None
    mRNA DY654442.1 None
    other-genetic BC156332.1 AAI56333.1
    other-genetic BC157083.1 AAI57084.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q1MX18.1 GenPept UniProtKB/Swiss-Prot:Q1MX18

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
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        Link to Protein RefSeqs
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        Link to Nucleotide RefSeq RNAs
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        Link to related taxonomy entry
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        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
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