2024-03-29 13:55:42, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001278313 2856 bp mRNA linear PRI 01-JUL-2013 DEFINITION Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 3, mRNA. ACCESSION NM_001278313 VERSION NM_001278313.1 GI:507417926 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 2856) 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 2856) 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 2856) 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 2856) 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 2856) 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 2856) 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 2856) 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, AB236158.1, DY654442.1 and AB231745.1. 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 (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. ##Evidence-Data-START## Transcript exon combination :: AB231745.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025082, ERS025083 [ECO:0000350] ##Evidence-Data-END## PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-608 BC127700.1 1-608 609-615 AB236158.1 647-653 616-1037 DY654442.1 12-433 c 1038-1708 AB231745.1 1032-1702 1709-2856 AB236158.1 1747-2894 FEATURES Location/Qualifiers source 1..2856 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="11" /map="11p15.2" gene 1..2856 /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..1672 /gene="INSC" /note="isoform b is encoded by transcript variant 3; protein inscuteable homolog" /codon_start=1 /product="protein inscuteable homolog isoform b" /protein_id="NP_001265242.1" /db_xref="GI:507417927" /db_xref="GeneID:387755" /db_xref="HGNC:33116" /db_xref="MIM:610668" /translation="
MMALPGGRHLDSVTLPGQRLHLMQVDSVQRWMEDLKLMTECECMCVLQAKPISLEEDAQGDLILAGGPGPGDPLQLLLKRGWVISTELRRIGQKLAQDRWARVHSMSVRLTCHARSMVSEYSAVSRNSLKEMGEIEKLLMEKCSELSAVTERCLQVENEHVLKSMKACVSETLSMLGQHFGQLLELALTREVQALVRKIDASDNIYTTESTTGNLFSLTQEGAPLCRIIAKEGGVVALFKVCRQDSFRCLYPQALRTLASICCVEEGVHQLEKVDGVLCLADILTDNSHSEATRAEAAAVVAQVTSPHLPVTQHLSSFLESMEEIVTALVKLCQEASSGEVFLLASAALANITFFDTMACEMLLQLNAIRVLLEACSDKQRVDTPYTRDQIVTILANMSVLEQCASDIIQENGVQLIMGMLSEKPRSGTPAEVAACERVQQKAAVTLARLSRDPDVAREAVRLSCMSRLIELCRSPSERNSSDAVLVACLAALRRLAGVCPEGLQDSDFQQLVQPRLVDSFLLCSNMEESFV
" 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..766 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 767..892 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 893..1064 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 1065..1243 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 1244..1310 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 1311..1466 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 1467..1543 /gene="INSC" /inference="alignment:Splign:1.39.8" exon 1544..2840 /gene="INSC" /inference="alignment:Splign:1.39.8" ORIGIN
gttgtgccatcctgccctctattttcagggtcacgaccgctgcaagcaggctttgctgcagattgggatcaacatgatggcactgcctggaggtcgccacctggactccgtcaccctgccgggtcagcggctacacctgatgcaggtggactcagtccagcgctggatggaagatctgaagctcatgaccgagtgcgagtgcatgtgtgtcctgcaggccaagcccatcagcctggaagaggatgcacagggtgacctcatcctggcaggtggccctggccctggagaccccctgcagctgctgctcaaacggggttgggtcattagcacagagctgcgcaggatcgggcagaagctggcccaggaccgctgggcacgggtgcacagcatgagcgtgcgtctgacctgccatgcccgctccatggtcagcgagtacagtgctgtcagcaggaactccttgaaggaaatgggcgagattgagaagctgctaatggagaaatgctcggagctctcggcagtcacagagaggtgccttcaggttgagaatgagcatgtcctgaagtcaatgaaggcctgcgtgagtgagaccctgagcatgctgggccagcactttggtcagctgctggagctggccctgacacgggaggttcaggcactggtgagaaaaattgatgcctcagacaatatctacaccacagagtccaccacagggaacctgttcagcctgacccaggagggggctcccttgtgccgcatcatagccaaggagggtggggtcgtagcactcttcaaggtttgccggcaggacagtttccggtgcttgtacccccaggcgctccgcacgctggcctccatctgctgcgtggaagagggtgtccaccagctggagaaggtggatggcgttctgtgcttggccgacatcctgaccgacaacagccactcagaggccacacgggctgaggctgcggctgtggtggcccaggtcacctccccacacctgcccgtcacccagcacctcagtagcttcctggagagcatggaggagatcgtgacagccctcgtcaaactgtgccaagaggcctcatcaggggaagtcttcctactggcctctgcggcccttgccaacatcacgttctttgacacaatggcctgcgagatgctcctgcagttgaatgccatccgtgttctcctggaagcctgcagtgacaagcagagagtggacacgccttacactcgggaccagattgtgaccatcttggcaaacatgtctgtcctagaacagtgtgcctctgacatcattcaggaaaatggggtccagcttatcatgggcatgctgtctgaaaaaccaaggtctgggactcctgctgaagtggcagcctgtgagcgagtccagcagaaagctgcagtgaccctggctcgtctcagccgagacccagatgtggcacgggaggccgtgcggctcagctgcatgtcccgtctcatcgagctctgcagatccccatcagagaggaacagcagtgacgccgtgcttgtggcctgcctggctgctctgcgtagattggctggggtctgccctgaaggcctccaggactctgactttcagcagttggtccagcctcggctggtggactccttcttactctgcagcaacatggaggagagttttgtgtagtgagtgtgggcgaagaaatacatttggctgttctcacaccccctctgactatgcaccagtgaacacatctgagtacataccagctctcctcatcttcttatttatacttaacttatttttgtgtgaaataaatggaggacaaaatcttagagcaacatcatcaaacagtctttggtccttgagaatcttctttgtgttttattttttgatttctgtagcttttcagttgcagatgttgaaattcgtaatgacaaatatgacaaattgtcatgggtgattccacttcatcttattttttctactctcactatacaatcttgcctcattttttaaaactttggaaccagaggatttcaactgcctagcaagttttttttttaagttggatttgctcttcccaaaaatctaaaatgaatttaataattgggtagaatatattggaaagaagtttctttttctttaataaatggaatcatataaaatgtatcccggattttcttattaaattgtattttaaactaggttcttgcttcccaggtttcattccccaaaaacttttccaaccattaaaagtacacacagaattgtcttgttttcataggtgtataaataggttaagttctgagtgacttagtgagaaaccaaagtgactttcaaaaatacacccaaaggcaccagaaaccctgcttcctttggcttctttgcttttgtgtaacctcctgttcacctcctggtgaatagaatcctcagatgaggcttattgaatgattgattcctcctcaaaagtatacttgaaagcagtggtgtgctgaagccagctcatgcccactcacaagggacaactgtgagaatttcttcctaactctgcactcagtgaccttgcgttggtagccatgagctacttcatgagccctcatgttgaaattggccatagtgggagtatttacaccacagaaattcacagatgctataaagcacagctttcgctttttttttttttagagagagctggtttaccaatttcactgcttgaaagtatcacaaaaatctggggatccttttgaaaatataaatgccatcatattgtgatataatttatacaatataatataattgtgtaaaatcatgattataataatgtttcaataaacatttcttaaattcccaaaaaaaaaaaaaaaaaa
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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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