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

Gene ID: 387755, updated on 5-Aug-2022

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
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Genomic context

See INSC in Genome Data Viewer
Location:
11p15.2
Exon count:
20
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (15111416..15269676)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (15208784..15343615)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (15133970..15268754)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily E member 41 pseudogene Neighboring gene calcitonin related polypeptide beta Neighboring gene VISTA enhancer hs692 Neighboring gene uncharacterized LOC105376568 Neighboring gene long intergenic non-protein coding RNA 2751

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

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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cytoskeletal anchor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
    Q1MX18, Q4AC98
    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/Swiss-Prot
    Q1MX18
    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/Swiss-Prot
    Q1MX18
    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/Swiss-Prot
    Q1MX18
    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/Swiss-Prot
    Q1MX18
    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/Swiss-Prot
    Q1MX18
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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/Swiss-Prot
    Q1MX18
    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

  3. XM_017017697.2XP_016873186.1  protein inscuteable homolog isoform X1

    UniProtKB/Swiss-Prot
    Q1MX18
    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/Swiss-Prot
    Q1MX18
    Conserved Domains (1) summary
    pfam16748
    Location:2366
    INSC_LBD; Inscuteable LGN-binding domain
  5. XM_011520085.2XP_011518387.1  protein inscuteable homolog isoform X2

    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
    15208784..15343615
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)