LOCUS       NM_001160018            4284 bp    mRNA    linear   ROD 02-MAY-2024
DEFINITION  Mus musculus torsin A interacting protein 1 (Tor1aip1), transcript
            variant 1, mRNA.
ACCESSION   NM_001160018
VERSION     NM_001160018.2
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4284)
  AUTHORS   Adams,D.J., Barlas,B., McIntyre,R.E., Salguero,I., van der
            Weyden,L., Barros,A., Vicente,J.R., Karimpour,N., Haider,A.,
            Ranzani,M., Turner,G., Thompson,N.A., Harle,V., Olvera-Leon,R.,
            Robles-Espinoza,C.D., Speak,A.O., Geisler,N., Weninger,W.J.,
            Geyer,S.H., Hewinson,J., Karp,N.A., Fu,B., Yang,F., Kozik,Z.,
            Choudhary,J., Yu,L., van Ruiten,M.S., Rowland,B.D., Lelliott,C.J.,
            Del Castillo Velasco-Herrera,M., Verstraten,R., Bruckner,L.,
            Henssen,A.G., Rooimans,M.A., de Lange,J., Mohun,T.J., Arends,M.J.,
            Kentistou,K.A., Coelho,P.A., Zhao,Y., Zecchini,H., Perry,J.R.B.,
            Jackson,S.P. and Balmus,G.
  CONSRTM   Sanger Mouse Genetics Project
  TITLE     Genetic determinants of micronucleus formation in vivo
  JOURNAL   Nature 627 (8002), 130-136 (2024)
   PUBMED   38355793
REFERENCE   2  (bases 1 to 4284)
  AUTHORS   Hernandez-Ono,A., Zhao,Y.P., Murray,J.W., Ostlund,C., Lee,M.J.,
            Shi,A., Dauer,W.T., Worman,H.J., Ginsberg,H.N. and Shin,J.Y.
  TITLE     Dynamic regulation of hepatic lipid metabolism by torsinA and its
            activators
  JOURNAL   JCI Insight 9 (3), e175328 (2024)
   PUBMED   38194265
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4284)
  AUTHORS   Kayman Kurekci,G., Acar,A.C. and Dincer,P.R.
  TITLE     Loss of the Nuclear Envelope Protein LAP1B Disrupts the Myogenic
            Differentiation of Patient-Derived Fibroblasts
  JOURNAL   Int J Mol Sci 23 (21), 13615 (2022)
   PUBMED   36362402
  REMARK    GeneRIF: Loss of the Nuclear Envelope Protein LAP1B Disrupts the
            Myogenic Differentiation of Patient-Derived Fibroblasts.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4284)
  AUTHORS   Shin,J.Y., Hernandez-Ono,A., Fedotova,T., Ostlund,C., Lee,M.J.,
            Gibeley,S.B., Liang,C.C., Dauer,W.T., Ginsberg,H.N. and Worman,H.J.
  TITLE     Nuclear envelope-localized torsinA-LAP1 complex regulates hepatic
            VLDL secretion and steatosis
  JOURNAL   J Clin Invest 129 (11), 4885-4900 (2019)
   PUBMED   31408437
  REMARK    GeneRIF: results establish an essential role for the nuclear
            envelope-localized torsinA-LAP1 complex in hepatic VLDL secretion
            and suggest that the torsinA pathway participates in the
            pathophysiology of nonalcoholic fatty liver disease.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4284)
  AUTHORS   Wang,Y., Shin,J.Y., Nakanishi,K., Homma,S., Kim,G.J., Tanji,K.,
            Joseph,L.C., Morrow,J.P., Stewart,C.L., Dauer,W.T. and Worman,H.J.
  TITLE     Postnatal development of mice with combined genetic depletions of
            lamin A/C, emerin and lamina-associated polypeptide 1
  JOURNAL   Hum Mol Genet 28 (15), 2486-2500 (2019)
   PUBMED   31009944
  REMARK    GeneRIF: Postnatal development of mice with combined genetic
            depletions of lamin A/C, emerin and lamina-associated polypeptide
            1.
REFERENCE   6  (bases 1 to 4284)
  AUTHORS   Kim,C.E., Perez,A., Perkins,G., Ellisman,M.H. and Dauer,W.T.
  TITLE     A molecular mechanism underlying the neural-specific defect in
            torsinA mutant mice
  JOURNAL   Proc Natl Acad Sci U S A 107 (21), 9861-9866 (2010)
   PUBMED   20457914
REFERENCE   7  (bases 1 to 4284)
  AUTHORS   Goodchild,R.E., Kim,C.E. and Dauer,W.T.
  TITLE     Loss of the dystonia-associated protein torsinA selectively
            disrupts the neuronal nuclear envelope
  JOURNAL   Neuron 48 (6), 923-932 (2005)
   PUBMED   16364897
REFERENCE   8  (bases 1 to 4284)
  AUTHORS   Goodchild,R.E. and Dauer,W.T.
  TITLE     The AAA+ protein torsinA interacts with a conserved domain present
            in LAP1 and a novel ER protein
  JOURNAL   J Cell Biol 168 (6), 855-862 (2005)
   PUBMED   15767459
REFERENCE   9  (bases 1 to 4284)
  AUTHORS   Cobellis,G., Nicolaus,G., Iovino,M., Romito,A., Marra,E.,
            Barbarisi,M., Sardiello,M., Di Giorgio,F.P., Iovino,N., Zollo,M.,
            Ballabio,A. and Cortese,R.
  TITLE     Tagging genes with cassette-exchange sites
  JOURNAL   Nucleic Acids Res 33 (4), e44 (2005)
   PUBMED   15741177
  REMARK    Publication Status: Online-Only
REFERENCE   10 (bases 1 to 4284)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC159964.5.
            
            On Apr 22, 2022 this sequence version replaced NM_001160018.1.
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (1).
            
            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 :: SRR7974084.21079.1,
                                           SRR13422598.1540408.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164135 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-688               AC159964.5         121036-121723       c
            689-763             AC159964.5         119004-119078       c
            764-823             AC159964.5         116692-116751       c
            824-868             AC159964.5         115665-115709       c
            869-907             AC159964.5         108427-108465       c
            908-988             AC159964.5         107578-107658       c
            989-1030            AC159964.5         103496-103537       c
            1031-1099           AC159964.5         102789-102857       c
            1100-1156           AC159964.5         98596-98652         c
            1157-4284           AC159964.5         89860-92987         c
FEATURES             Location/Qualifiers
     source          1..4284
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="1"
                     /map="1 67.69 cM"
     gene            1..4284
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /note="torsin A interacting protein 1"
                     /db_xref="GeneID:208263"
                     /db_xref="MGI:MGI:3582693"
     exon            1..688
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /inference="alignment:Splign:2.1.0"
     CDS             211..1941
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /note="isoform 1 is encoded by transcript variant 1;
                     torsin-1A-interacting protein 1; lamina-associated
                     polypeptide 1B"
                     /codon_start=1
                     /product="torsin-1A-interacting protein 1 isoform 1"
                     /protein_id="NP_001153490.1"
                     /db_xref="CCDS:CCDS48402.1"
                     /db_xref="GeneID:208263"
                     /db_xref="MGI:MGI:3582693"
                     /translation="MAGERWQAEGPGEGWAIYVTPRAPIREGRRRLDPRNGDSSDAPA
                     YGAHPSRRGRREVRFSEEPAEVYGDFEPRAAKERSPGGRRTPPEKFRPASAGEEVRES
                     AYNLRSRPRRQRRAQEAEEMKTRRSARLEQHSQQPQLSPATSGRGLRDSPSSSEDREE
                     DEPSSRPVTSQTASKKTLRTPEASVMNEDPISNLCRPPLRSPRLDSTYQTNGNTKTNE
                     REATIVQQVNFFEEGETEDDLESSYSDITIRARSSDSLESRDQDFPAHENQPLLLTSG
                     CQENPQEWVDRAVRMRSRMAYNNIQKSNFGNQSPSTSRPQSAIHHPNEPSVKIKWWLL
                     GLVAILAVGLFWFFHTPAVETTAVQEFQNQMKQLQSKYQSQNEKLWKRGTTFLEKHLN
                     SSLPRPQPAILLLTAAQDAAEVLKCLSEQIADAYSSFRSVRAIRIDGAGKAAQDSDLV
                     KHEVDQELTDGFKNGQNAAVVHRFESLPAGSTLIFYKYCDHENAAFKDVALVLTVLLE
                     EKTLEASLGLKEIEEKVRDFLKVKFTSSSTASSYNHMDPDKLNGLWSRISHLVLPVQP
                     ENTLKAGSCL"
     exon            689..763
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /inference="alignment:Splign:2.1.0"
     exon            764..823
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /inference="alignment:Splign:2.1.0"
     exon            824..868
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /inference="alignment:Splign:2.1.0"
     exon            869..907
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /inference="alignment:Splign:2.1.0"
     exon            908..988
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1030
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..1099
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1100..1156
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..4284
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2058..2063
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /note="hexamer: CATAAA"
     regulatory      2073..2078
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /note="hexamer: ACTAAA"
     polyA_site      2085
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /note="major polyA site"
     polyA_site      2094
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
     regulatory      4229..4234
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /note="hexamer: AATAAA"
     polyA_site      4253
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /note="major polyA site"
     regulatory      4264..4269
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /note="hexamer: TATAAA"
     polyA_site      4284
                     /gene="Tor1aip1"
                     /gene_synonym="LAP1; Lap1B"
                     /note="major polyA site"
ORIGIN      
        1 actgcctctc cgacagccct caggacacac catgggcctg gaggctggtt ggtggcacac
       61 gagcgaggac gcaggcggcg gccccggcga ctctcaactg cctccctgac cactgcgaca
      121 acctccccga agccatcgcc actacccgca gcggaatcta tctgcggcca atctatcgcc
      181 acgaaccgac taccagctac gtaaacaact atggcgggag aaaggtggca ggccgagggg
      241 cccggagaag gttgggccat ctacgtcaca cccagagccc ccatccggga gggaaggcgg
      301 aggctcgacc cgcgaaatgg cgacagcagt gacgcgcctg cgtacggagc tcacccgtcg
      361 cgccgcggac gacgggaagt gaggttttca gaggagccgg cagaagtgta cggcgacttc
      421 gagccccggg cggccaaaga aaggtctccg ggggggagac gaaccccgcc agaaaagttc
      481 cggccggctt ctgcgggaga ggaagtgaga gaaagcgctt acaaccttcg ctctcgacca
      541 cggaggcagc ggcgagccca ggaagccgag gagatgaaga cgcggaggtc tgctcgcctt
      601 gagcagcact cacagcagcc gcagctgtct ccggccacga gcggccgagg gttacgggac
      661 tctccgtcct ccagtgagga ccgcgaagag gatgaacctt cttcccgacc tgttacaagc
      721 caaacagcct caaagaaaac tcttagaaca ccagaggctt cagtgatgaa tgaagaccct
      781 ataagcaact tatgcagacc cccattaaga agcccaagac ttgattcaac ataccaaaca
      841 aatggaaata ctaaaacgaa tgaaagagaa gctaccattg tccagcaggt caatttcttc
      901 gaagaaggag aaaccgaaga tgatctcgag agctcttaca gtgacatcac tatcagggcc
      961 agatccagcg attctcttga gtcaagagat caggacttcc cagctcatga gaatcagcca
     1021 ttactgctga cctcaggatg tcaggaaaac cctcaggagt gggttgaccg agctgtacga
     1081 atgaggagta gaatggcgta taacaacatt cagaaatcca actttggaaa ccagtctcca
     1141 tcaacctcca ggccacaatc ggctatccat cacccaaatg aaccttctgt caagataaag
     1201 tggtggctgc tgggacttgt tgccatcctt gcagtgggac tattttggtt ctttcatacc
     1261 cctgcagtgg aaaccactgc cgttcaagaa ttccagaacc agatgaagca actccagtct
     1321 aagtaccaga gtcaaaacga gaagctgtgg aagagaggca ccaccttcct agaaaaacat
     1381 ctgaatagct ccctccctcg gccccagcct gccatcctgt tgctcactgc agctcaagat
     1441 gctgcagaag tgctcaagtg tctgagtgaa caaattgccg acgcctactc ctccttccgt
     1501 agtgtccgtg ccatccggat tgacggggca ggtaaagctg ctcaggacag tgacctcgtt
     1561 aagcatgaag tcgatcagga gctgactgat ggatttaaaa atggccagaa tgcagctgtg
     1621 gtacaccgct tcgaatccct gcctgctggc tcaaccttga tcttctataa atactgtgac
     1681 catgaaaatg cagccttcaa agatgtagcc ctcgtcctga ctgtactgtt ggaggagaag
     1741 acgctggaag ccagtttagg cctaaaggaa attgaagaga aagtgaggga tttccttaaa
     1801 gtcaagttca ccagctctag cactgccagc tcctacaacc acatggaccc agacaagctg
     1861 aatgggctct ggagccgcat ctcccacctc gtgctgcctg tgcagcctga gaacactctg
     1921 aaagcaggca gctgcttatg agggagagaa gcggaaagcc atctcgggtt tgagcggttt
     1981 tgagaccttg taaccagaga tggaatttgg aacagttttt gaaaactggt ttctttttaa
     2041 aggaagtaaa gttcatacat aaaagtggaa taactaaatc attaaccagc ctaattatct
     2101 gtgatttgag agaattgttt ctctatttcc actctgaacc atgttcaagg tatttagcat
     2161 agtgtacagt atatgcaatt cccgagtgtc tgccttgatt ctggccgaat cattcttgct
     2221 gtggtgtggc cagtgagaag ggctaggttc ctctttcaaa gaatcagctc tatagttaac
     2281 tttggattta cttgtgtttg tgaccttatt aatggctgac agctccctaa ttgtagctgt
     2341 ggattcccca tattttttct ctcataccat ttaaatgtgt gatccttagc tgctgcctat
     2401 aaaaacagaa ctggatgtgc ggtttagcca gcccctccct cactggtttt tagagagggg
     2461 aggagggatt tggaggtaga aagagaagag aaattgttca atagagaagg aaaaggaaga
     2521 agggaaaaaa gatagttgca agctgggcat ggtaaaccac gcctgtgatc tgtctcagta
     2581 ttgtctcagg agagtcagga ggaacagaag ttcaaggcca gcctcatcta gttagttggg
     2641 ttttctgcca ccctgggtta cgtaagacac tgtctttaaa aaaaaaattt aaaactcgaa
     2701 actttacttt ttaaaaaaag aaacataaac gtgacaagaa gcctgtgagg ggtagtcacg
     2761 caggcacgcc taggcggcgg cctctaactg ttacagtttg ccctttctgt ttgtgttctt
     2821 gtgtgaggct aaagctcagt ggcggagcat tagcccagcc tgtgcaatac cctggattca
     2881 gtacccagca ttccacacgc ctgtcatctc ggcactcact catcacattg cggttggagt
     2941 atcttgaatt gaaagccagc ctggagtata tatatatcaa gaccctaatt caaccccact
     3001 ccccagtaaa aaaagagtgc catggtcctc ccaagatttt ttaagcttgt atattatgca
     3061 gtgtatttcc ttacttagct cttatcaatt tgaaaggtag gcagattcaa agcattctct
     3121 ttgataatac ctgacagttt ttgtcctaaa gaaaatatag tttctggtac atcctcaact
     3181 tgatggtttg ggatttttta aattattatt attattacta ttattattta atttttttac
     3241 tttttgccga tactaggaat tgaacctgag atcccacacc agctggtcac gtgttctcct
     3301 ggtgaccatc ccctagcagt agaaacacat tttgaagtca ggtaactcat gtctacaatg
     3361 ccagcacttg ggaagttgaa gaagaagcca ttgttagctg tatagtgagt ttcaagccag
     3421 cttgcctggg ctgtaggatg aagtactgcc tctacaccca ctatccccct ccctgccccc
     3481 caatacacaa ccacccccac tacccccctt cccacccctc tgacccctac ccctgtctcc
     3541 acacctacta cctccctccc ccccatctcc acagccaata cccacccccc caatacacaa
     3601 cacagagata gcttcaaaat tggtaaacag ttctctgctg ggctgttgaa gagaacttca
     3661 ttttctctgt acatgagtac tggaagtctg ggagtggtgg tccataacaa atagagatat
     3721 actatgcaca tgatcatttt gtcgagtgag tacctcaagc caaaagagtg aaccttacca
     3781 cacgtgaaga acagcggacc taggtctcta ttgctcgagt attttagagt tttttgcatt
     3841 tataactagg tattctcatc tgtccgctgc tgttttgttt tctactctta acaattctag
     3901 atgcaccttg agttcttctc catagacatc taaatgagaa tactacttta gagtcctagt
     3961 caactgttct ttacccactg ggagtctcat ggtgggtggt aagatttgta ttactatctg
     4021 tttcggtcag gtcagactga taagattctc attttgtaaa gaattataaa aaagtttttg
     4081 aaagtcttta ttttttacat acatatcata aggaaataga aatgtcttat attccactga
     4141 cttaaataaa tttcttttat ctttcagaaa aaaaacaatt gtagcagtta atgtgtaaaa
     4201 agcttttaaa agctatttta gtaatttaaa taaatttact ttttgggttt gtattctgta
     4261 tgttataaac ttaatgattt acaa
//
