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

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: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A missense mutation in human INSC causes peripheral neuropathy.
Title: A missense mutation in human INSC causes peripheral neuropathy.
Genome-wide association study identified INSC gene associated with Trail Making Test Part A and Alzheimer's disease related cognitive phenotypes.
Title: Genome-wide association study identified INSC gene associated with Trail Making Test Part A and Alzheimer's disease related cognitive phenotypes.
In mammary stem cells, the asymmetric domain of Insc bound to LGN:Galphai(GDP) suffices to drive asymmetric fate, and reverts aberrant symmetric divisions induced by p53 loss.
Title: Insc:LGN tetramers promote asymmetric divisions of mammary stem cells.
Studies indicate that the Inscuteable (Insc)and NuMA are mutually exclusive interactors of LGN.
Title: On the inscrutable role of Inscuteable: structural basis and functional implications for the competitive binding of NuMA and Inscuteable to LGN.
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).
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.
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.
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.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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Preferred Names: protein inscuteable homolog

Names: inscuteable homolog; inscuteable spindle orientation adaptor protein

NCBI Reference Sequences (RefSeq)

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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)

NM_001031853.5 → NP_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:454 → 562

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:70 → 113

INSC_LBD; Inscuteable LGN-binding domain
NM_001042536.3 → NP_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:407 → 515

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:23 → 66

INSC_LBD; Inscuteable LGN-binding domain
NM_001278313.2 → NP_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:407 → 515

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:23 → 66

INSC_LBD; Inscuteable LGN-binding domain
NM_001278314.2 → 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

UniProtKB/TrEMBL

A0A0A0MSI1

Related

ENSP00000389161.2, ENST00000424273.5

Conserved Domains (2) summary

cd00020
Location:442 → 550

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:23 → 66

INSC_LBD; Inscuteable LGN-binding domain
NM_001278315.2 → NP_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:23 → 66

INSC_LBD; Inscuteable LGN-binding domain
NM_001278316.2 → 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

Consensus CDS

CCDS60736.1

UniProtKB/TrEMBL

A0A0A0MSI1

Related

ENSP00000436113.1, ENST00000525218.1

Conserved Domains (2) summary

cd00020
Location:365 → 473

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:23 → 66

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

15111416..15269676

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006718227.3 → XP_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:407 → 515

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:23 → 66

INSC_LBD; Inscuteable LGN-binding domain
XM_017017698.2 → XP_016873187.1 protein inscuteable homolog isoform X4

UniProtKB/TrEMBL

A0A0A0MSI1
XM_017017697.2 → XP_016873186.1 protein inscuteable homolog isoform X1

UniProtKB/TrEMBL

A0A0A0MSI1

Conserved Domains (2) summary

cd00020
Location:407 → 515

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:23 → 66

INSC_LBD; Inscuteable LGN-binding domain
XM_011520086.2 → XP_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:23 → 66

INSC_LBD; Inscuteable LGN-binding domain
XM_011520085.2 → XP_011518387.1 protein inscuteable homolog isoform X2

UniProtKB/TrEMBL

A0A0A0MSI1

Conserved Domains (1) summary

pfam16748
Location:23 → 66

INSC_LBD; Inscuteable LGN-binding domain

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

15207776..15366083

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A0A0MSI1
XM_054368736.1 → XP_054224711.1 protein inscuteable homolog isoform X4

UniProtKB/TrEMBL

A0A0A0MSI1
XM_054368733.1 → XP_054224708.1 protein inscuteable homolog isoform X1

UniProtKB/TrEMBL

A0A0A0MSI1
XM_054368735.1 → XP_054224710.1 protein inscuteable homolog isoform X3

UniProtKB/TrEMBL

A0A0A0MSI1
XM_054368734.1 → XP_054224709.1 protein inscuteable homolog isoform X2

UniProtKB/TrEMBL

A0A0A0MSI1