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
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
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.
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.
of this study, together with the functional relevance of SOX6 in cartilage formation, support the SOX6 gene as an important gene for BMD variation.
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.
ModBase Predicted Comparative 3D Structure on Q1MX18
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.