Human Gene INSC (uc001mly.4) Description and Page Index
  Description: Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 1, mRNA.
RefSeq Summary (NM_001031853): 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].
Transcript (Including UTRs)
   Position: hg19 chr11:15,133,970-15,268,756 Size: 134,787 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr11:15,134,016-15,267,586 Size: 133,571 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:15,133,970-15,268,756)mRNA (may differ from genome)Protein (579 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedStanford SOURCEUniProtKB

-  Comments and Description Text from UniProtKB
  ID: INSC_HUMAN
DESCRIPTION: RecName: Full=Protein inscuteable homolog;
FUNCTION: May function as an adapter linking the Par3 complex to the GPSM1/GPSM2 complex. Involved in spindle orientation during mitosis it may regulate cell proliferation and differentiation in the developing nervous system. May play a role in the asymmetric division of fibroblasts and participate in the process of stratification of the squamous epithelium.
SUBUNIT: Interacts with ALS2CR19/PAR3-beta, F2RL2/PAR3, GPSM1/AGS3 and GPSM2/LGN.
SUBCELLULAR LOCATION: Cytoplasm. Note=Localizes to the apical cortex of mitotic epidermal cells and to the apical side of neuronal progenitor cells (By similarity).
TISSUE SPECIFICITY: Isoform 1 is expressed in various tissues with stronger expression in liver, kidney and small intestine. Isoform 2 is abundantly expressed in small intestine and to a lower extent in lung and pancreas.
DEVELOPMENTAL STAGE: Expressed in fetal cochlea.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): INSC
CDC HuGE Published Literature: INSC
Positive Disease Associations: Bone Density , Forced Expiratory Volume , Hip , Prostatic Neoplasms , Stroke
Related Studies:
  1. Bone Density
    Fernando Rivadeneira et al. Nature genetics 2009, Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies., Nature genetics. [PubMed 19801982]
  2. Bone Density
    LiJun Tan et al. Science China. Life sciences 2010, A genome-wide association analysis implicates SOX6 as a candidate gene for wrist bone mass., Science China. Life sciences. [PubMed 21104366]
    of this study, together with the functional relevance of SOX6 in cartilage formation, support the SOX6 gene as an important gene for BMD variation.
  3. Forced Expiratory Volume
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: INSC
Diseases sorted by gene-association score: optic disk drusen (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.37 RPKM in Nerve - Tibial
Total median expression: 24.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.5046-0.424 Picture PostScript Text
3' UTR -294.211170-0.251 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold

Pfam Domains:
PF16748 - Inscuteable LGN-binding domain

SCOP Domains:
48371 - ARM repeat

Protein Data Bank (PDB) 3-D Structure
MuPIT help

3SF4
- X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q1MX18
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0030674 protein binding, bridging

Biological Process:
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0030154 cell differentiation
GO:0031647 regulation of protein stability

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005938 cell cortex
GO:0032991 macromolecular complex


-  Descriptions from all associated GenBank mRNAs
  AB236159 - Homo sapiens INSC mRNA for Inscuteable long form, complete cds.
BC156332 - Synthetic construct Homo sapiens clone IMAGE:100061872, MGC:190118 inscuteable homolog (Drosophila) (INSC) mRNA, encodes complete protein.
BC157083 - Synthetic construct Homo sapiens clone IMAGE:100063420, MGC:190776 inscuteable homolog (Drosophila) (INSC) mRNA, encodes complete protein.
AB236158 - Homo sapiens INSC mRNA for Inscuteable short form, complete cds.
BC127700 - Homo sapiens inscuteable homolog (Drosophila), mRNA (cDNA clone MGC:157794 IMAGE:40127962), complete cds.
AB231745 - Homo sapiens mRNA for hypothetical protein, complete cds, clone:Hsa11-digit23-05-01-01-C.
AB231746 - Homo sapiens mRNA for hypothetical protein, complete cds, clone:Hsa11-digit23-05-10-02-C.
AB231747 - Homo sapiens mRNA for hypothetical protein, complete cds, clone:Hsa11-digit23-05-17-15-C.
BC117561 - Homo sapiens inscuteable homolog (Drosophila), mRNA (cDNA clone IMAGE:7504349), with apparent retained intron.
AB231749 - Homo sapiens mRNA for hypothetical protein, partial cds, clone:Hsa11-digit24-10-02-F.
AB231748 - Homo sapiens mRNA for hypothetical protein, complete cds, clone:Hsa11-digit23-06-01-10-C.
AB231744 - Homo sapiens mRNA for hypothetical protein, partial cds, clone:Hsa11-digit23-06-01-R.
JD195054 - Sequence 176078 from Patent EP1572962.
JD532523 - Sequence 513547 from Patent EP1572962.
JD336370 - Sequence 317394 from Patent EP1572962.
JD383043 - Sequence 364067 from Patent EP1572962.
JD264406 - Sequence 245430 from Patent EP1572962.
JD234570 - Sequence 215594 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: INSC_HUMAN, NM_001031853, NP_001027024, Q1MX18, Q1MX19, Q3C1V6, Q4AC95, Q4AC96, Q4AC97, Q4AC98, uc001mly.3
UCSC ID: uc001mly.4
RefSeq Accession: NM_001031853
Protein: Q1MX18 (aka INSC_HUMAN)
CCDS: CCDS41621.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001031853.4
exon count: 13CDS single in 3' UTR: no RNA size: 2970
ORF size: 1740CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3680.00frame shift in genome: no % Coverage: 99.53
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.