LOCUS       NM_015602               3807 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens torsin 1A interacting protein 1 (TOR1AIP1), transcript
            variant 2, mRNA.
ACCESSION   NM_015602
VERSION     NM_015602.4
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 3807)
  AUTHORS   Mackels,L., Liu,X., Bonne,G. and Servais,L.
  TITLE     TOR1AIP1-Associated Nuclear Envelopathies
  JOURNAL   Int J Mol Sci 24 (8), 6911 (2023)
   PUBMED   37108075
  REMARK    GeneRIF: TOR1AIP1-Associated Nuclear Envelopathies.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3807)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 3807)
  AUTHORS   Lessel,I., Chen,M.J., Luttgen,S., Arndt,F., Fuchs,S., Meien,S.,
            Thiele,H., Jones,J.R., Shaw,B.R., Crossman,D.K., Nurnberg,P.,
            Korf,B.R., Kubisch,C. and Lessel,D.
  TITLE     Two novel cases further expand the phenotype of TOR1AIP1-associated
            nuclear envelopathies
  JOURNAL   Hum Genet 139 (4), 483-498 (2020)
   PUBMED   32055997
  REMARK    GeneRIF: Two novel cases further expand the phenotype of
            TOR1AIP1-associated nuclear envelopathies.
REFERENCE   4  (bases 1 to 3807)
  AUTHORS   Fichtman,B., Zagairy,F., Biran,N., Barsheshet,Y., Chervinsky,E.,
            Ben Neriah,Z., Shaag,A., Assa,M., Elpeleg,O., Harel,A. and
            Spiegel,R.
  TITLE     Combined loss of LAP1B and LAP1C results in an early onset
            multisystemic nuclear envelopathy
  JOURNAL   Nat Commun 10 (1), 605 (2019)
   PUBMED   30723199
  REMARK    GeneRIF: All seven patients are homozygous for a nonsense mutation
            in the TOR1AIP1 gene resulting in the loss of both protein isoforms
            LAP1B and LAP1C.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3807)
  AUTHORS   Cali-Daylan,A.E. and Dincer,P.
  TITLE     Gene co-expression network analysis of dysferlinopathy: Altered
            cellular processes and functional prediction of TOR1AIP1, a novel
            muscular dystrophy gene
  JOURNAL   Neuromuscul Disord 27 (3), 269-277 (2017)
   PUBMED   28110863
  REMARK    GeneRIF: LAP1 protein encoded by TOR1AIP1 may play a role in
            dysferlinopathy pathogenesis
REFERENCE   6  (bases 1 to 3807)
  AUTHORS   Hewett,J.W., Zeng,J., Niland,B.P., Bragg,D.C. and Breakefield,X.O.
  TITLE     Dystonia-causing mutant torsinA inhibits cell adhesion and neurite
            extension through interference with cytoskeletal dynamics
  JOURNAL   Neurobiol Dis 22 (1), 98-111 (2006)
   PUBMED   16361107
REFERENCE   7  (bases 1 to 3807)
  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   8  (bases 1 to 3807)
  AUTHORS   Kondo,Y., Kondoh,J., Hayashi,D., Ban,T., Takagi,M., Kamei,Y.,
            Tsuji,L., Kim,J. and Yoneda,Y.
  TITLE     Molecular cloning of one isotype of human lamina-associated
            polypeptide 1s and a topological analysis using its deletion
            mutants
  JOURNAL   Biochem Biophys Res Commun 294 (4), 770-778 (2002)
   PUBMED   12061773
  REMARK    GeneRIF: Molecular cloning of LAP1B & the role of the protein
            domains in localization of LAP1B to nuclear and endoplasmic
            reticulum membranes was determined
REFERENCE   9  (bases 1 to 3807)
  AUTHORS   Maison,C., Pyrpasopoulou,A., Theodoropoulos,P.A. and Georgatos,S.D.
  TITLE     The inner nuclear membrane protein LAP1 forms a native complex with
            B-type lamins and partitions with spindle-associated mitotic
            vesicles
  JOURNAL   EMBO J 16 (16), 4839-4850 (1997)
   PUBMED   9305626
REFERENCE   10 (bases 1 to 3807)
  AUTHORS   Foisner,R. and Gerace,L.
  TITLE     Integral membrane proteins of the nuclear envelope interact with
            lamins and chromosomes, and binding is modulated by mitotic
            phosphorylation
  JOURNAL   Cell 73 (7), 1267-1279 (1993)
   PUBMED   8324822
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL353708.10 and AK021613.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 21, 2020 this sequence version replaced NM_015602.3.
            
            Summary: This gene encodes a type 2 integral membrane protein that
            binds A- and B-type lamins. The encoded protein localizes to the
            inner nuclear membrane and may be involved in maintaining the
            attachment of the nuclear membrane to the nuclear lamina during
            cell division. Alternate splicing results in multiple transcript
            variants. [provided by RefSeq, Apr 2016].
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the 3' coding region, compared to variant 1. This
            results in a shorter protein (isoform 2), compared to isoform 1.
            
            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.
            
            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 :: AK023204.1, BC023247.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000606911.7/ ENSP00000476687.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-476               AL353708.10        2660-3135
            477-696             AK021613.1         1-220
            697-697             AL353708.10        5070-5070
            698-1621            AK021613.1         222-1145
            1622-3807           AL353708.10        38266-40451
FEATURES             Location/Qualifiers
     source          1..3807
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q25.2"
     gene            1..3807
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /note="torsin 1A interacting protein 1"
                     /db_xref="GeneID:26092"
                     /db_xref="HGNC:HGNC:29456"
                     /db_xref="MIM:614512"
     exon            1..693
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /inference="alignment:Splign:2.1.0"
     CDS             219..1970
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /note="isoform 2 is encoded by transcript variant 2;
                     lamina-associated polypeptide 1B; lamin-associated protein
                     1B; torsin A interacting protein 1"
                     /codon_start=1
                     /product="torsin-1A-interacting protein 1 isoform 2"
                     /protein_id="NP_056417.2"
                     /db_xref="CCDS:CCDS1335.1"
                     /db_xref="GeneID:26092"
                     /db_xref="HGNC:HGNC:29456"
                     /db_xref="MIM:614512"
                     /translation="MAGDGRRAEAVREGWGVYVTPRAPIREGRGRLAPQNGGSSDAPA
                     YRTPPSRQGRREVRFSDEPPEVYGDFEPLVAKERSPVGKRTRLEEFRSDSAKEEVRES
                     AYYLRSRQRRQPRPQETEEMKTRRTTRLQQQHSEQPPLQPSPVMTRRGLRDSHSSEED
                     EASSQTDLSQTISKKTVRSIQEAPVSEDLVIRLRRPPLRYPRYEATSVQQKVNFSEEG
                     ETEEDDQDSSHSSVTTVKARSRDSDESGDKTTRSSSQYIESFWQSSQSQNFTAHDKQP
                     SVLSSGYQKTPQEWAPQTARIRTRMQNDSILKSELGNQSPSTSSRQVTGQPQNASFVK
                     RNRWWLLPLIAALASGSFWFFSTPEVETTAVQEFQNQMNQLKNKYQGQDEKLWKRSQT
                     FLEKHLNSSHPRSQPAILLLTAARDAEEALRCLSEQIADAYSSFRSVRAIRIDGTDKA
                     TQDSDTVKLEVDQELSNGFKNGQNAAVVHRFESFPAGSTLIFYKYCDHENAAFKDVAL
                     VLTVLLEEETLGTSLGLKEVEEKVRDFLKVKFTNSNTPNSYNHMDPDKLNGLWSRISH
                     LVLPVQPENALKRGICL"
     exon            694..771
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /inference="alignment:Splign:2.1.0"
     exon            772..828
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /inference="alignment:Splign:2.1.0"
     exon            829..870
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /inference="alignment:Splign:2.1.0"
     exon            871..957
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /inference="alignment:Splign:2.1.0"
     exon            958..1014
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /inference="alignment:Splign:2.1.0"
     exon            1015..1056
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1125
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /inference="alignment:Splign:2.1.0"
     exon            1126..1182
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..3807
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2109..2114
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /note="hexamer: TATAAA"
     polyA_site      2131
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
     regulatory      3411..3416
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /note="hexamer: ATTAAA"
     polyA_site      3439
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
     regulatory      3778..3783
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /note="hexamer: AATAAA"
     polyA_site      3807
                     /gene="TOR1AIP1"
                     /gene_synonym="LAP1; LAP1B; LAP1C; LGMD2Y"
                     /note="major polyA site"
ORIGIN      
        1 actgcctctc tcacagccct caagacacac catgggccca gaggcaggtt tgctacacag
       61 cagcgacgac gcaggcggcg gccccagcga ctcgcaactg cctccctgac cacagcggcc
      121 accgcccaac acccccgaga agccatcgcc accaccggca ggagaaccta gggtccataa
      181 agccatcttc gcgatcgact aaagctacgt caacaactat ggcgggcgac gggcggcggg
      241 cagaggcggt gcgggaagga tggggtgtgt acgtcacccc cagggccccc atccgagagg
      301 gaaggggccg gctcgcccct caaaatggcg gcagcagcga tgcgcctgcg tacagaactc
      361 ctccgtcgcg ccagggccgg cgggaagtga ggttctcgga cgagccgcca gaagtgtacg
      421 gcgacttcga gcccctggtg gccaaagaaa ggtccccggt gggaaaacga acccggctag
      481 aagagttccg gtccgattct gcgaaagagg aagtgagaga aagcgcgtac taccttcggt
      541 ctaggcagcg gaggcagccg cgaccccagg aaaccgagga aatgaagacg cgaaggacta
      601 cccgccttca gcagcagcac tcagagcagc ctccgctaca gccgtctcct gttatgacca
      661 ggagagggct gcgggactct cattcctctg aagaggatga agcatcttcc caaactgatt
      721 taagccaaac gatctcaaag aaaactgtca ggagcataca agaggctcca gtgagtgaag
      781 atcttgtaat caggttacgt cgaccccctc taagataccc aagatatgaa gccaccagtg
      841 tccaacagaa ggtcaatttc tctgaagaag gagaaactga agaagatgat caagacagct
      901 ctcacagcag tgtcactact gttaaggcca gatccaggga ttctgatgaa tctggagata
      961 aaaccaccag atcatctagt caatatatag aatcattttg gcagtcatca caaagtcaaa
     1021 acttcacagc tcatgataag caaccttcag tgctaagctc aggatatcaa aaaactcccc
     1081 aggaatgggc cccacaaact gcaagaataa ggaccaggat gcaaaatgac agcattctga
     1141 aatcagagct tggaaaccag tcaccatcaa cctccagccg acaagtgact ggacaacccc
     1201 aaaatgcatc ttttgtcaag aggaaccggt ggtggctact tcctctgata gctgctcttg
     1261 cctctgggag tttttggttc tttagtactc ctgaggtaga aaccactgct gttcaagagt
     1321 tccagaacca gatgaatcaa cttaagaata agtaccaagg tcaagatgag aagctgtgga
     1381 aaaggagcca aacattcctg gaaaaacatc ttaatagctc ccatcctcgg tctcagcctg
     1441 ctatcttact gctcactgct gcccgagatg ctgaagaagc acttaggtgt ctgagtgaac
     1501 aaattgctga tgcctattct tcttttcgta gtgtccgtgc catccggatt gatgggacag
     1561 ataaagctac tcaagacagt gatactgtca aactagaggt agaccaagaa ctgagcaatg
     1621 gatttaagaa tggccagaat gcagctgtgg tacaccgctt tgagtcattt cccgcaggct
     1681 ctactttgat cttctacaaa tattgtgacc atgaaaacgc ggccttcaaa gatgtagcct
     1741 tagtcctgac tgtcttattg gaggaagaga cacttggaac aagtctaggc ctaaaggaag
     1801 ttgaagaaaa agtaagagat tttcttaaag tcaagttcac caattctaac acacccaact
     1861 cctacaatca tatggaccca gacaaactga atggcctctg gagccgtatt tctcacttag
     1921 ttctgcctgt gcaacctgaa aatgccctga aaaggggcat ctgcttataa gaagtgagag
     1981 agaagaaaaa tcatgtccca agttctgaga attgttcaca ctttctaacc agagacagaa
     2041 ttcagagctc tttttgaaag aactagtttc tttttaaaga agttaagtgc ttacataaac
     2101 atggaacata taaatcattc attcaaccta attatctgtg atatgagaga atcatttcag
     2161 tttccattga gagctctgtt aaaggtatct taggagtgca gattatatgc agttccttag
     2221 agaatctgtt ttgattctgg gctgagttat tacagttatg gtatgaccag tgagagggat
     2281 ttgtgtcctt tcttatgaac cttcctgatt ttttaactta gatttctcac taagtttcct
     2341 gagttattag taagattgct ccctaaatgt aaccagggat tttcccatta tgttcccttt
     2401 tataccattt aggtgtgagt tccttagctt ctgcctatag gaacataagt aatgaaaggt
     2461 catctaggtg tgtgtttgga atttttttct tttgtttttt ggaaaatgga aagaacaagg
     2521 caaggaagga aaattaatgg ggaagctgaa gggaggaaat gttacagtaa tccactgaga
     2581 tgtagtttag tcaaacatag gtatatgaac tgttaatctt ggtggattcc gttgggattt
     2641 gttttttaca tctccttttt ccttccttga agaaaaattc ttggctgtcc caaggattct
     2701 tcatgtatat tgcaaaattt aatatatttg ttcacttgag tcttaagagt aggtcaggcc
     2761 aaggcaggtg gatcacctga ggtcagaagt tcaagaccag cctggccaac atggtgaaac
     2821 cccgtctcta ctaaaaatac aaaaattagc tgggcgtggt ggtgcatgcc tgaaatccca
     2881 gctacttggg aggctgaggc aggagaattg cttgaacccg ggaggcggag gttgcagtaa
     2941 gccgagacca tgcttattgc cctccagtct gggcaacaaa aatgaaactc cgtctcaaaa
     3001 aaaaaaaagt aggtcaattc gtaacagttt attttggaca caccctgaag cttttgtttt
     3061 gaattaagaa atgagtttca ggaattgaca aaccatttgt taaccagctg tcctgggcta
     3121 ttgaagaaga tttcattttc cgcgcatcca cttgttgcag tccaagtcct ctagtgcaac
     3181 gccatagcaa atataaagat ttactatgca cgtgatacat tttatggagt gcctcaagcc
     3241 aagatagtga atttatatga agggtgtgaa atgtatttct ttactactat agtagtttag
     3301 ttataacttt gcatctataa ttgagctttc tcatctgtca aatgctatgg ttttcttaaa
     3361 atgttacaat tctagatcta tccaccttgt ttttttattg tctacaaacc attaaatgta
     3421 aatattgttt ttagagtcag tcattggctt tgtcatttac cctttgagag ttccacaagt
     3481 ggtagtagag tggtttaacg tctttcctct agtactacca gtattcataa atgtataccc
     3541 cttactgtaa tttgttcctc ttagaagtca gatcatctga tttatagagg attatgaaaa
     3601 ccagagtttt tgaaaaggct tattttatac atacgtatta tatagagaaa caaatgtttt
     3661 tattaaatgt ttcattgacc caagtaattt aaaagtaata tgttacctat gtctttcagg
     3721 aaaaataatt atagcagctg atctgtaaat gactttaaaa gctattttag taatttaaat
     3781 aaatttactt tcttggttta tactctc
//
