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    INSC INSC spindle orientation adaptor protein [ Homo sapiens (human) ]

    Gene ID: 387755, updated on 10-Dec-2024

    Summary

    Official Symbol
    INSCprovided by HGNC
    Official Full Name
    INSC spindle orientation adaptor proteinprovided by HGNC
    Primary source
    HGNC:HGNC:33116
    See related
    Ensembl:ENSG00000188487 MIM:610668; AllianceGenome:HGNC:33116
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See INSC in Genome Data Viewer
    Location:
    11p15.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (15111416..15269676)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (15207776..15366083)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (15133970..15268754)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 7615 Neighboring gene olfactory receptor family 7 subfamily E member 41 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:15096041-15096542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:15135643-15136176 Neighboring gene calcitonin related polypeptide beta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:15196965-15197488 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:15197489-15198010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:15260043-15260544 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:15260545-15261044 Neighboring gene NANOG hESC enhancer GRCh37_chr11:15363023-15363618 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:15454895-15455061 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:15467942-15469141 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:15581971-15582472 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:15583102-15584301 Neighboring gene VISTA enhancer hs692 Neighboring gene uncharacterized LOC105376568 Neighboring gene long intergenic non-protein coding RNA 2751 Neighboring gene MPRA-validated peak1210 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr11:15610492-15610993 Neighboring gene NANOG hESC enhancer GRCh37_chr11:15643853-15644482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3179 Neighboring gene uncharacterized LOC105376567 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:15732871-15733685

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    EBI GWAS Catalog
    Common variation near ROBO2 is associated with expressive vocabulary in infancy.
    EBI GWAS Catalog
    Genome wide association study of age at menarche in the Japanese population.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytoskeletal anchor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-macromolecule adaptor activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in apical protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in asymmetric cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of mitotic spindle orientation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of asymmetric cell division IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of protein stability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in apical cortex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with cell cortex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    protein inscuteable homolog
    Names
    inscuteable homolog
    inscuteable spindle orientation adaptor protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001031853.5NP_001027024.3  protein inscuteable homolog isoform a

      See identical proteins and their annotated locations for NP_001027024.3

      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
      A0PJX5, Q1MX18, Q1MX19, Q3C1V6, Q4AC95, Q4AC96, Q4AC97, Q4AC98
      UniProtKB/TrEMBL
      A0A0A0MSI1
      Related
      ENSP00000368872.3, ENST00000379554.7
      Conserved Domains (2) summary
      cd00020
      Location:454562
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam16748
      Location:70113
      INSC_LBD; Inscuteable LGN-binding domain
    2. NM_001042536.3NP_001036001.1  protein inscuteable homolog isoform b

      See identical proteins and their annotated locations for NP_001036001.1

      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, AC090744, BU147420, DY654442
      Consensus CDS
      CCDS41622.1
      UniProtKB/TrEMBL
      A0A0A0MSI1
      Related
      ENSP00000368874.3, ENST00000379556.8
      Conserved Domains (2) summary
      cd00020
      Location:407515
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam16748
      Location:2366
      INSC_LBD; Inscuteable LGN-binding domain
    3. NM_001278313.2NP_001265242.1  protein inscuteable homolog isoform b

      See identical proteins and their annotated locations for NP_001265242.1

      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
      Consensus CDS
      CCDS41622.1
      UniProtKB/TrEMBL
      A0A0A0MSI1
      Related
      ENSP00000436194.1, ENST00000530161.5
      Conserved Domains (2) summary
      cd00020
      Location:407515
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam16748
      Location:2366
      INSC_LBD; Inscuteable LGN-binding domain
    4. NM_001278314.2NP_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
      UniProtKB/TrEMBL
      A0A0A0MSI1
      Related
      ENSP00000389161.2, ENST00000424273.5
      Conserved Domains (2) summary
      cd00020
      Location:442550
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam16748
      Location:2366
      INSC_LBD; Inscuteable LGN-binding domain
    5. NM_001278315.2NP_001265244.1  protein inscuteable homolog isoform d

      See identical proteins and their annotated locations for NP_001265244.1

      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
      Consensus CDS
      CCDS60735.1
      UniProtKB/TrEMBL
      A0A0A0MSI1
      Related
      ENSP00000435022.1, ENST00000528567.5
      Conserved Domains (1) summary
      pfam16748
      Location:2366
      INSC_LBD; Inscuteable LGN-binding domain
    6. NM_001278316.2NP_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
      Consensus CDS
      CCDS60736.1
      UniProtKB/TrEMBL
      A0A0A0MSI1
      Related
      ENSP00000436113.1, ENST00000525218.1
      Conserved Domains (2) summary
      cd00020
      Location:365473
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam16748
      Location:2366
      INSC_LBD; Inscuteable LGN-binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      15111416..15269676
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718227.3XP_006718290.1  protein inscuteable homolog isoform X1

      See identical proteins and their annotated locations for XP_006718290.1

      UniProtKB/TrEMBL
      A0A0A0MSI1
      Conserved Domains (2) summary
      cd00020
      Location:407515
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam16748
      Location:2366
      INSC_LBD; Inscuteable LGN-binding domain
    2. XM_017017698.2XP_016873187.1  protein inscuteable homolog isoform X4

      UniProtKB/TrEMBL
      A0A0A0MSI1
    3. XM_017017697.2XP_016873186.1  protein inscuteable homolog isoform X1

      UniProtKB/TrEMBL
      A0A0A0MSI1
      Conserved Domains (2) summary
      cd00020
      Location:407515
      ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
      pfam16748
      Location:2366
      INSC_LBD; Inscuteable LGN-binding domain
    4. XM_011520086.2XP_011518388.1  protein inscuteable homolog isoform X3

      See identical proteins and their annotated locations for XP_011518388.1

      UniProtKB/TrEMBL
      A0A0A0MSI1
      Conserved Domains (1) summary
      pfam16748
      Location:2366
      INSC_LBD; Inscuteable LGN-binding domain
    5. XM_011520085.2XP_011518387.1  protein inscuteable homolog isoform X2

      UniProtKB/TrEMBL
      A0A0A0MSI1
      Conserved Domains (1) summary
      pfam16748
      Location:2366
      INSC_LBD; Inscuteable LGN-binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      15207776..15366083
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368732.1XP_054224707.1  protein inscuteable homolog isoform X1

      UniProtKB/TrEMBL
      A0A0A0MSI1
    2. XM_054368736.1XP_054224711.1  protein inscuteable homolog isoform X4

      UniProtKB/TrEMBL
      A0A0A0MSI1
    3. XM_054368733.1XP_054224708.1  protein inscuteable homolog isoform X1

      UniProtKB/TrEMBL
      A0A0A0MSI1
    4. XM_054368735.1XP_054224710.1  protein inscuteable homolog isoform X3

      UniProtKB/TrEMBL
      A0A0A0MSI1
    5. XM_054368734.1XP_054224709.1  protein inscuteable homolog isoform X2

      UniProtKB/TrEMBL
      A0A0A0MSI1