2024-04-25 09:23:51, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001278314 2961 bp mRNA linear PRI 01-JUL-2013 DEFINITION Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 4, mRNA. ACCESSION NM_001278314 VERSION NM_001278314.1 GI:507417928 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 2961) AUTHORS Mapelli,M. and Gonzalez,C. TITLE On the inscrutable role of Inscuteable: structural basis and functional implications for the competitive binding of NuMA and Inscuteable to LGN JOURNAL Open Biol 2 (8), 120102 (2012) PUBMED 22977735 REMARK GeneRIF: Studies indicate that the Inscuteable (Insc)and NuMA are mutually exclusive interactors of LGN. Review article REFERENCE 2 (bases 1 to 2961) AUTHORS Tao,S., Wang,Z., Feng,J., Hsu,F.C., Jin,G., Kim,S.T., Zhang,Z., Gronberg,H., Zheng,L.S., Isaacs,W.B., Xu,J. and Sun,J. TITLE A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants JOURNAL Carcinogenesis 33 (3), 598-603 (2012) PUBMED 22219177 REFERENCE 3 (bases 1 to 2961) AUTHORS Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K., Gibbs,R.A. and Butte,N.F. TITLE Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population JOURNAL PLoS ONE 7 (12), E51954 (2012) PUBMED 23251661 REFERENCE 4 (bases 1 to 2961) AUTHORS Yuzawa,S., Kamakura,S., Iwakiri,Y., Hayase,J. and Sumimoto,H. TITLE Structural basis for interaction between the conserved cell polarity proteins Inscuteable and Leu-Gly-Asn repeat-enriched protein (LGN) JOURNAL Proc. Natl. Acad. Sci. U.S.A. 108 (48), 19210-19215 (2011) PUBMED 22074847 REMARK GeneRIF: mInsc-LGN interaction is vital for stabilization of LGN and for intracellular localization of mInsc. REFERENCE 5 (bases 1 to 2961) AUTHORS Vural,A., Oner,S., An,N., Simon,V., Ma,D., Blumer,J.B. and Lanier,S.M. 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 JOURNAL Mol. Cell. Biol. 30 (6), 1528-1540 (2010) PUBMED 20065032 REMARK GeneRIF: These data present AGS3, G-proteins, and mInsc as candidate proteins involved in regulating cellular stress associated with protein-processing pathologies. REFERENCE 6 (bases 1 to 2961) AUTHORS Izaki,T., Kamakura,S., Kohjima,M. and Sumimoto,H. TITLE Two forms of human Inscuteable-related protein that links Par3 to the Pins homologues LGN and AGS3 JOURNAL Biochem. Biophys. Res. Commun. 341 (4), 1001-1006 (2006) PUBMED 16458856 REMARK GeneRIF: 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 REFERENCE 7 (bases 1 to 2961) AUTHORS Katoh,M. and Katoh,M. TITLE Identification and characterization of human Inscuteable gene in silico JOURNAL Int. J. Mol. Med. 11 (1), 111-116 (2003) PUBMED 12469229 COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BC127700.1, DY654442.1, AC090744.5 and AB236158.1. 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]. 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. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AB231746.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025084 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-615 BC127700.1 1-615 616-652 DY654442.1 397-433 c 653-757 AC090744.5 78460-78564 c 758-2961 AB236158.1 691-2894 FEATURES Location/Qualifiers source 1..2961 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11p15.2" gene 1..2961 /gene="INSC" /note="inscuteable homolog (Drosophila)" /db_xref="GeneID:387755" /db_xref="HGNC:33116" /db_xref="MIM:610668" exon 1..129 /gene="INSC" /inference="alignment:Splign:1.39.8" CDS 74..1777 /gene="INSC" /note="isoform c is encoded by transcript variant 4; protein inscuteable homolog" /codon_start=1 /product="protein inscuteable homolog isoform c" /protein_id="NP_001265243.1" /db_xref="GI:507417929" /db_xref="GeneID:387755" /db_xref="HGNC:33116" /db_xref="MIM:610668" /translation="
MMALPGGRHLDSVTLPGQRLHLMQVDSVQRWMEDLKLMTECECMCVLQAKPISLEEDAQGDLILAGGPGPGDPLQLLLKRGWVISTELRRIGQKLAQDRWARVHSMSVRLTCHARSMVSEYSAVSRNSLKEMGEIEKLLMEKCSELSAVTERCLQVENEHVLKSMKACVSETLSMLGQHFGQLLELALTREVQVESHSVTRLECSGAISAQCNLRLLGSSDSPASASQALVRKIDASDNIYTTESTTGNLFSLTQEGAPLCRIIAKEGGVVALFKVCRQDSFRCLYPQALRTLASICCVEEGVHQLEKVDGVLCLADILTDNSHSEATRAEAAAVVAQVTSPHLPVTQHLSSFLESMEEIVTALVKLCQEASSGEVFLLASAALANITFFDTMACEMLLQLNAIRVLLEACSDKQRVDTPYTRDQIVTILANMSVLEQCASDIIQENGVQLIMGMLSEKPRSGTPAEVAACERVQQKAAVTLARLSRDPDVAREAVRLSCMSRLIELCRSPSERNSSDAVLVACLAALRRLAGVCPEGLQDSDFQQLVQPRLVDSFLLCSNMEESFV
" exon 130..475 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 476..528 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 529..652 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 653..757 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 758..871 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 872..997 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 998..1169 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 1170..1348 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 1349..1415 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 1416..1571 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 1572..1648 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 1649..2945 /gene="INSC" /inference="alignment:Splign:1.39.8" ORIGIN
gttgtgccatcctgccctctattttcagggtcacgaccgctgcaagcaggctttgctgcagattgggatcaacatgatggcactgcctggaggtcgccacctggactccgtcaccctgccgggtcagcggctacacctgatgcaggtggactcagtccagcgctggatggaagatctgaagctcatgaccgagtgcgagtgcatgtgtgtcctgcaggccaagcccatcagcctggaagaggatgcacagggtgacctcatcctggcaggtggccctggccctggagaccccctgcagctgctgctcaaacggggttgggtcattagcacagagctgcgcaggatcgggcagaagctggcccaggaccgctgggcacgggtgcacagcatgagcgtgcgtctgacctgccatgcccgctccatggtcagcgagtacagtgctgtcagcaggaactccttgaaggaaatgggcgagattgagaagctgctaatggagaaatgctcggagctctcggcagtcacagagaggtgccttcaggttgagaatgagcatgtcctgaagtcaatgaaggcctgcgtgagtgagaccctgagcatgctgggccagcactttggtcagctgctggagctggccctgacacgggaggttcaggtggagtctcactctgtcaccaggctggagtgcagtggtgcaatctcggctcaatgcaacctccgcctcctgggttcaagtgattcccctgcctcagcctcccaggcactggtgagaaaaattgatgcctcagacaatatctacaccacagagtccaccacagggaacctgttcagcctgacccaggagggggctcccttgtgccgcatcatagccaaggagggtggggtcgtagcactcttcaaggtttgccggcaggacagtttccggtgcttgtacccccaggcgctccgcacgctggcctccatctgctgcgtggaagagggtgtccaccagctggagaaggtggatggcgttctgtgcttggccgacatcctgaccgacaacagccactcagaggccacacgggctgaggctgcggctgtggtggcccaggtcacctccccacacctgcccgtcacccagcacctcagtagcttcctggagagcatggaggagatcgtgacagccctcgtcaaactgtgccaagaggcctcatcaggggaagtcttcctactggcctctgcggcccttgccaacatcacgttctttgacacaatggcctgcgagatgctcctgcagttgaatgccatccgtgttctcctggaagcctgcagtgacaagcagagagtggacacgccttacactcgggaccagattgtgaccatcttggcaaacatgtctgtcctagaacagtgtgcctctgacatcattcaggaaaatggggtccagcttatcatgggcatgctgtctgaaaaaccaaggtctgggactcctgctgaagtggcagcctgtgagcgagtccagcagaaagctgcagtgaccctggctcgtctcagccgagacccagatgtggcacgggaggccgtgcggctcagctgcatgtcccgtctcatcgagctctgcagatccccatcagagaggaacagcagtgacgccgtgcttgtggcctgcctggctgctctgcgtagattggctggggtctgccctgaaggcctccaggactctgactttcagcagttggtccagcctcggctggtggactccttcttactctgcagcaacatggaggagagttttgtgtagtgagtgtgggcgaagaaatacatttggctgttctcacaccccctctgactatgcaccagtgaacacatctgagtacataccagctctcctcatcttcttatttatacttaacttatttttgtgtgaaataaatggaggacaaaatcttagagcaacatcatcaaacagtctttggtccttgagaatcttctttgtgttttattttttgatttctgtagcttttcagttgcagatgttgaaattcgtaatgacaaatatgacaaattgtcatgggtgattccacttcatcttattttttctactctcactatacaatcttgcctcattttttaaaactttggaaccagaggatttcaactgcctagcaagttttttttttaagttggatttgctcttcccaaaaatctaaaatgaatttaataattgggtagaatatattggaaagaagtttctttttctttaataaatggaatcatataaaatgtatcccggattttcttattaaattgtattttaaactaggttcttgcttcccaggtttcattccccaaaaacttttccaaccattaaaagtacacacagaattgtcttgttttcataggtgtataaataggttaagttctgagtgacttagtgagaaaccaaagtgactttcaaaaatacacccaaaggcaccagaaaccctgcttcctttggcttctttgcttttgtgtaacctcctgttcacctcctggtgaatagaatcctcagatgaggcttattgaatgattgattcctcctcaaaagtatacttgaaagcagtggtgtgctgaagccagctcatgcccactcacaagggacaactgtgagaatttcttcctaactctgcactcagtgaccttgcgttggtagccatgagctacttcatgagccctcatgttgaaattggccatagtgggagtatttacaccacagaaattcacagatgctataaagcacagctttcgctttttttttttttagagagagctggtttaccaatttcactgcttgaaagtatcacaaaaatctggggatccttttgaaaatataaatgccatcatattgtgatataatttatacaatataatataattgtgtaaaatcatgattataataatgtttcaataaacatttcttaaattcccaaaaaaaaaaaaaaaaaa
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ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:387755 -> Biological process: GO:0000132 [establishment of mitotic spindle orientation] evidence: IEA GeneID:387755 -> Biological process: GO:0007399 [nervous system development] evidence: IEA GeneID:387755 -> Biological process: GO:0060487 [lung epithelial cell differentiation] evidence: IEA GeneID:387755 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA GeneID:387755 -> Cellular component: GO:0045177 [apical part of cell] evidence: IEA
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