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

Gene ID: 387755, updated on 8-May-2016
Official Symbol
INSCprovided by HGNC
Official Full Name
inscuteable homolog (Drosophila)provided by HGNC
Primary source
HGNC: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]
Orthologs
Location:
11p15.2
Exon count:
21
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (15111430..15247208)
105 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 uncharacterized LOC105376566 Neighboring gene uncharacterized LOC105376569 Neighboring gene uncharacterized LOC105376568

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
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NHGRI GWA Catalog
Common variation near ROBO2 is associated with expressive vocabulary in infancy.
NHGRI GWA Catalog
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NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
nervous system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell cortex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein inscuteable homolog
Names
inscuteable spindle orientation adaptor protein

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_001031853.4NP_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
    Related
    ENSP00000368872, OTTHUMP00000231221, ENST00000379554, OTTHUMT00000386590
    Conserved Domains (1) 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, ...
  2. NM_001042536.2NP_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, BU147420, DY654442
    Consensus CDS
    CCDS41622.1
    UniProtKB/Swiss-Prot
    Q1MX18
    Related
    ENSP00000368874, OTTHUMP00000231222, ENST00000379556, OTTHUMT00000386591
    Conserved Domains (1) 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, ...
  3. NM_001278313.1NP_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, OTTHUMP00000231224, ENST00000530161, OTTHUMT00000386593
    Conserved Domains (1) 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, ...
  4. NM_001278314.1NP_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, ENST00000424273
    Conserved Domains (1) 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, ...
  5. NM_001278315.1NP_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, OTTHUMP00000231223, ENST00000528567, OTTHUMT00000386592
  6. NM_001278316.1NP_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, OTTHUMP00000231225, ENST00000525218, OTTHUMT00000386594
    Conserved Domains (1) 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, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    15111430..15247208
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718227.2XP_006718290.1  

    See identical proteins and their annotated locations for XP_006718290.1

    UniProtKB/Swiss-Prot
    Q1MX18
    Conserved Domains (1) 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, ...
  2. XM_011520084.1XP_011518386.1  

    See identical proteins and their annotated locations for XP_011518386.1

    UniProtKB/Swiss-Prot
    Q1MX18
    Conserved Domains (1) 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, ...
  3. XM_011520086.1XP_011518388.1  

    See identical proteins and their annotated locations for XP_011518388.1

    UniProtKB/Swiss-Prot
    Q1MX18
  4. XM_011520085.1XP_011518387.1  

  5. XM_011520088.1XP_011518390.1  

    Conserved Domains (1) summary
    cd00020
    Location:385493
    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, ...
  6. XM_011520082.1XP_011518384.1  

    See identical proteins and their annotated locations for XP_011518384.1

    UniProtKB/Swiss-Prot
    Q1MX18
    Conserved Domains (1) 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, ...
  7. XM_011520083.1XP_011518385.1  

    See identical proteins and their annotated locations for XP_011518385.1

    UniProtKB/Swiss-Prot
    Q1MX18
    Conserved Domains (1) 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, ...
  8. XM_011520087.1XP_011518389.1  

    Conserved Domains (1) summary
    cd00020
    Location:392500
    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, ...

RNA

  1. XR_930868.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    15132981..15268351
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)