LOCUS       NM_001042536            2893 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens INSC spindle orientation adaptor protein (INSC),
            transcript variant 2, mRNA.
ACCESSION   NM_001042536
VERSION     NM_001042536.3
KEYWORDS    RefSeq; MANE Select.
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 2893)
  AUTHORS   Yeh,J.Y., Chao,H.C., Hong,C.L., Hung,Y.C., Tzou,F.Y., Hsiao,C.T.,
            Li,J.L., Chen,W.J., Chou,C.T., Tsai,Y.S., Liao,Y.C., Lin,Y.C.,
            Lin,S., Huang,S.Y., Kennerson,M., Lee,Y.C. and Chan,C.C.
  TITLE     A missense mutation in human INSC causes peripheral neuropathy
  JOURNAL   EMBO Mol Med 16 (5), 1091-1114 (2024)
   PUBMED   38589651
  REMARK    GeneRIF: A missense mutation in human INSC causes peripheral
            neuropathy.
REFERENCE   2  (bases 1 to 2893)
  AUTHORS   Wang,K., Xu,C., Smith,A., Xiao,D., Navia,R.O., Lu,Y., Xie,C. and
            Piamjariyakul,U.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative
  TITLE     Genome-wide association study identified INSC gene associated with
            Trail Making Test Part A and Alzheimer's disease related cognitive
            phenotypes
  JOURNAL   Prog Neuropsychopharmacol Biol Psychiatry 111, 110393 (2021)
   PUBMED   34224794
  REMARK    GeneRIF: Genome-wide association study identified INSC gene
            associated with Trail Making Test Part A and Alzheimer's disease
            related cognitive phenotypes.
REFERENCE   3  (bases 1 to 2893)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 2893)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 2893)
  AUTHORS   Culurgioni,S., Mari,S., Bonetti,P., Gallini,S., Bonetto,G.,
            Brennich,M., Round,A., Nicassio,F. and Mapelli,M.
  TITLE     Insc:LGN tetramers promote asymmetric divisions of mammary stem
            cells
  JOURNAL   Nat Commun 9 (1), 1025 (2018)
   PUBMED   29523789
  REMARK    GeneRIF: 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.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2893)
  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   7  (bases 1 to 2893)
  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   8  (bases 1 to 2893)
  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   9  (bases 1 to 2893)
  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   10 (bases 1 to 2893)
  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
            AC090744.5, AB236158.1, BU147420.1 and DY654442.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001042536.2.
            
            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 (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.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AB236158.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379556.8/ ENSP00000368874.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AC090744.5         148045-148059       c
            16-32               AB236158.1         1-17
            33-668              BU147420.1         5-640
            669-1090            DY654442.1         12-433              c
            1091-2893           AB236158.1         1076-2878
FEATURES             Location/Qualifiers
     source          1..2893
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.2"
     gene            1..2893
                     /gene="INSC"
                     /note="INSC spindle orientation adaptor protein"
                     /db_xref="GeneID:387755"
                     /db_xref="HGNC:HGNC:33116"
                     /db_xref="MIM:610668"
     exon            1..81
                     /gene="INSC"
                     /inference="alignment:Splign:2.1.0"
     exon            82..182
                     /gene="INSC"
                     /inference="alignment:Splign:2.1.0"
     CDS             127..1725
                     /gene="INSC"
                     /note="isoform b is encoded by transcript variant 2;
                     protein inscuteable homolog; inscuteable spindle
                     orientation adaptor protein"
                     /codon_start=1
                     /product="protein inscuteable homolog isoform b"
                     /protein_id="NP_001036001.1"
                     /db_xref="CCDS:CCDS41622.1"
                     /db_xref="GeneID:387755"
                     /db_xref="HGNC:HGNC:33116"
                     /db_xref="MIM:610668"
                     /translation="MMALPGGRHLDSVTLPGQRLHLMQVDSVQRWMEDLKLMTECECM
                     CVLQAKPISLEEDAQGDLILAGGPGPGDPLQLLLKRGWVISTELRRIGQKLAQDRWAR
                     VHSMSVRLTCHARSMVSEYSAVSRNSLKEMGEIEKLLMEKCSELSAVTERCLQVENEH
                     VLKSMKACVSETLSMLGQHFGQLLELALTREVQALVRKIDASDNIYTTESTTGNLFSL
                     TQEGAPLCRIIAKEGGVVALFKVCRQDSFRCLYPQALRTLASICCVEEGVHQLEKVDG
                     VLCLADILTDNSHSEATRAEAAAVVAQVTSPHLPVTQHLSSFLESMEEIVTALVKLCQ
                     EASSGEVFLLASAALANITFFDTMACEMLLQLNAIRVLLEACSDKQRVDTPYTRDQIV
                     TILANMSVLEQCASDIIQENGVQLIMGMLSEKPRSGTPAEVAACERVQQKAAVTLARL
                     SRDPDVAREAVRLSCMSRLIELCRSPSERNSSDAVLVACLAALRRLAGVCPEGLQDSD
                     FQQLVQPRLVDSFLLCSNMEESFV"
     exon            183..528
                     /gene="INSC"
                     /inference="alignment:Splign:2.1.0"
     exon            529..581
                     /gene="INSC"
                     /inference="alignment:Splign:2.1.0"
     exon            582..705
                     /gene="INSC"
                     /inference="alignment:Splign:2.1.0"
     exon            706..819
                     /gene="INSC"
                     /inference="alignment:Splign:2.1.0"
     exon            820..945
                     /gene="INSC"
                     /inference="alignment:Splign:2.1.0"
     exon            946..1117
                     /gene="INSC"
                     /inference="alignment:Splign:2.1.0"
     exon            1118..1296
                     /gene="INSC"
                     /inference="alignment:Splign:2.1.0"
     exon            1297..1363
                     /gene="INSC"
                     /inference="alignment:Splign:2.1.0"
     exon            1364..1519
                     /gene="INSC"
                     /inference="alignment:Splign:2.1.0"
     exon            1520..1596
                     /gene="INSC"
                     /inference="alignment:Splign:2.1.0"
     exon            1597..2893
                     /gene="INSC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1852..1857
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSC"
                     /note="hexamer: AATAAA"
     polyA_site      1890
                     /gene="INSC"
                     /note="major polyA site"
     regulatory      2157..2162
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSC"
                     /note="hexamer: AATATA"
     regulatory      2187..2192
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSC"
                     /note="hexamer: AATAAA"
     polyA_site      2188
                     /gene="INSC"
                     /note="major polyA site"
     polyA_site      2211
                     /gene="INSC"
                     /note="major polyA site"
     regulatory      2226..2231
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSC"
                     /note="hexamer: ATTAAA"
     polyA_site      2246
                     /gene="INSC"
                     /note="major polyA site"
     regulatory      2870..2875
                     /regulatory_class="polyA_signal_sequence"
                     /gene="INSC"
                     /note="hexamer: AATAAA"
     polyA_site      2893
                     /gene="INSC"
ORIGIN      
        1 actttgcgcg cggcctctgg agctccagct gcgccccgcc accactggcc gctcgcacta
       61 ccagcctgtc tcgcacgcta aggtcacgac cgctgcaagc aggctttgct gcagattggg
      121 atcaacatga tggcactgcc tggaggtcgc cacctggact ccgtcaccct gccgggtcag
      181 cggctacacc tgatgcaggt ggactcagtc cagcgctgga tggaagatct gaagctcatg
      241 accgagtgcg agtgcatgtg tgtcctgcag gccaagccca tcagcctgga agaggatgca
      301 cagggtgacc tcatcctggc aggtggccct ggccctggag accccctgca gctgctgctc
      361 aaacggggtt gggtcattag cacagagctg cgcaggatcg ggcagaagct ggcccaggac
      421 cgctgggcac gggtgcacag catgagcgtg cgtctgacct gccatgcccg ctccatggtc
      481 agcgagtaca gtgctgtcag caggaactcc ttgaaggaaa tgggcgagat tgagaagctg
      541 ctaatggaga aatgctcgga gctctcggca gtcacagaga ggtgccttca ggttgagaat
      601 gagcatgtcc tgaagtcaat gaaggcctgc gtgagtgaga ccctgagcat gctgggccag
      661 cactttggtc agctgctgga gctggccctg acacgggagg ttcaggcact ggtgagaaaa
      721 attgatgcct cagacaatat ctacaccaca gagtccacca cagggaacct gttcagcctg
      781 acccaggagg gggctccctt gtgccgcatc atagccaagg agggtggggt cgtagcactc
      841 ttcaaggttt gccggcagga cagtttccgg tgcttgtacc cccaggcgct ccgcacgctg
      901 gcctccatct gctgcgtgga agagggtgtc caccagctgg agaaggtgga tggcgttctg
      961 tgcttggccg acatcctgac cgacaacagc cactcagagg ccacacgggc tgaggctgcg
     1021 gctgtggtgg cccaggtcac ctccccacac ctgcccgtca cccagcacct cagtagcttc
     1081 ctggagagca tggaggagat cgtgacagcc ctcgtcaaac tgtgccaaga ggcctcatca
     1141 ggggaagtct tcctactggc ctctgcggcc cttgccaaca tcacgttctt tgacacaatg
     1201 gcctgcgaga tgctcctgca gttgaatgcc atccgtgttc tcctggaagc ctgcagtgac
     1261 aagcagagag tggacacgcc ttacactcgg gaccagattg tgaccatctt ggcaaacatg
     1321 tctgtcctag aacagtgtgc ctctgacatc attcaggaaa atggggtcca gcttatcatg
     1381 ggcatgctgt ctgaaaaacc aaggtctggg actcctgctg aagtggcagc ctgtgagcga
     1441 gtccagcaga aagctgcagt gaccctggct cgtctcagcc gagacccaga tgtggcacgg
     1501 gaggccgtgc ggctcagctg catgtcccgt ctcatcgagc tctgcagatc cccatcagag
     1561 aggaacagca gtgacgccgt gcttgtggcc tgcctggctg ctctgcgtag attggctggg
     1621 gtctgccctg aaggcctcca ggactctgac tttcagcagt tggtccagcc tcggctggtg
     1681 gactccttct tactctgcag caacatggag gagagttttg tgtagtgagt gtgggcgaag
     1741 aaatacattt ggctgttctc acaccccctc tgactatgca ccagtgaaca catctgagta
     1801 cataccagct ctcctcatct tcttatttat acttaactta tttttgtgtg aaataaatgg
     1861 aggacaaaat cttagagcaa catcatcaaa cagtctttgg tccttgagaa tcttctttgt
     1921 gttttatttt ttgatttctg tagcttttca gttgcagatg ttgaaattcg taatgacaaa
     1981 tatgacaaat tgtcatgggt gattccactt catcttattt tttctactct cactatacaa
     2041 tcttgcctca ttttttaaaa ctttggaacc agaggatttc aactgcctag caagtttttt
     2101 ttttaagttg gatttgctct tcccaaaaat ctaaaatgaa tttaataatt gggtagaata
     2161 tattggaaag aagtttcttt ttctttaata aatggaatca tataaaatgt atcccggatt
     2221 ttcttattaa attgtatttt aaactaggtt cttgcttccc aggtttcatt ccccaaaaac
     2281 ttttccaacc attaaaagta cacacagaat tgtcttgttt tcataggtgt ataaataggt
     2341 taagttctga gtgacttagt gagaaaccaa agtgactttc aaaaatacac ccaaaggcac
     2401 cagaaaccct gcttcctttg gcttctttgc ttttgtgtaa cctcctgttc acctcctggt
     2461 gaatagaatc ctcagatgag gcttattgaa tgattgattc ctcctcaaaa gtatacttga
     2521 aagcagtggt gtgctgaagc cagctcatgc ccactcacaa gggacaactg tgagaatttc
     2581 ttcctaactc tgcactcagt gaccttgcgt tggtagccat gagctacttc atgagccctc
     2641 atgttgaaat tggccatagt gggagtattt acaccacaga aattcacaga tgctataaag
     2701 cacagctttc gctttttttt tttttagaga gagctggttt accaatttca ctgcttgaaa
     2761 gtatcacaaa aatctgggga tccttttgaa aatataaatg ccatcatatt gtgatataat
     2821 ttatacaata taatataatt gtgtaaaatc atgattataa taatgtttca ataaacattt
     2881 cttaaattcc caa
//
