2024-04-20 18:48:14, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001199260 8331 bp mRNA linear PRI 01-JUL-2013 DEFINITION Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA. ACCESSION NM_001199260 VERSION NM_001199260.1 GI:312922355 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 8331) AUTHORS Zhao,C., Brown,R.S., Chase,A.R., Eisele,M.R. and Schlieker,C. TITLE Regulation of Torsin ATPases by LAP1 and LULL1 JOURNAL Proc. Natl. Acad. Sci. U.S.A. 110 (17), E1545-E1554 (2013) PUBMED 23569223 REMARK GeneRIF: LAP1 and LULL1 as regulatory cofactors that are responsible for the activation of TorA's ATPase activity. REFERENCE 2 (bases 1 to 8331) AUTHORS Vander Heyden,A.B., Naismith,T.V., Snapp,E.L., Hodzic,D. and Hanson,P.I. TITLE LULL1 retargets TorsinA to the nuclear envelope revealing an activity that is impaired by the DYT1 dystonia mutation JOURNAL Mol. Biol. Cell 20 (11), 2661-2672 (2009) PUBMED 19339278 REMARK GeneRIF: Data suggest that LULL1 regulates the distribution and activity of TorA within the ER and NE lumen and reveal functional defects in the mutant protein responsible for DYT1 dystonia. REFERENCE 3 (bases 1 to 8331) 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 REMARK GeneRIF: identifed a novel transmembrane protein, lumenal domain like LAP1 (LULL1), which appears to interact with torsinA; it resides in the main endoplasmic reticulum. COMMENT VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from BP222544.1, BC094724.1 and AL359853.18. Transcript Variant: This variant (3) contains the same 5' non-coding exons, but has a completely different set of coding exons compared to variant 1. This results in a longer isoform b (torsin-1A-interacting protein 2) distinct from isoform a, referred to as interferon alpha responsive protein. ##Evidence-Data-START## Transcript exon combination :: BC094724.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-3 BP222544.1 1-3 4-4367 BC094724.1 1-4364 4368-8331 AL359853.18 133273-137236 c FEATURES Location/Qualifiers source 1..8331 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="1" /map="1q25.2" gene 1..8331 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /note="torsin A interacting protein 2" /db_xref="GeneID:163590" /db_xref="HGNC:24055" /db_xref="MIM:614513" exon 1..114 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /inference="alignment:Splign:1.39.8" exon 115..249 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /inference="alignment:Splign:1.39.8" exon 250..668 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /inference="alignment:Splign:1.39.8" STS 356..504 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /standard_name="RH98901" /db_xref="UniSTS:89257" exon 669..848 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /inference="alignment:Splign:1.39.8" STS 716..2327 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /db_xref="UniSTS:484406" misc_feature 803..805 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /note="upstream in-frame stop codon" CDS 815..2227 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /note="isoform b is encoded by transcript variant 3; interferon responsive gene 15; lumenal domain like LAP1; torsin-1A-interacting protein 2; lumenal domain-like LAP1" /codon_start=1 /product="torsin-1A-interacting protein 2 isoform b" /protein_id="NP_001186189.1" /db_xref="GI:312922356" /db_xref="CCDS:CCDS1334.1" /db_xref="GeneID:163590" /db_xref="HGNC:24055" /db_xref="MIM:614513" /translation="
MADSGLREPQEDSQKDLENDPSVNSQAQETTIIASNAEEAEILHSACGLSKDHQEVETEGPESADTGDKSESPDEANVGKHPKDKTEDENKQSFLDGGKGHHLPSENLGKEPLDPDPSHSPSDKVGRADAHLGSSSVALPKEASDGTGASQEPPTTDSQEAQSPGHSSAGQEGEDTLRRRLLAPEAGSHPQQTQKLEEIKENAQDTMRQINKKGFWSYGPVILVVLVVAVVASSVNSYYSSPAQQVPKNPALEAFLAQFSQLEDKFPGQSSFLWQRGRKFLQKHLNASNPTEPATIIFTAAREGRETLKCLSHHVADAYTSSQKVSPIQIDGAGRTWQDSDTVKLLVDLELSYGFENGQKAAVVHHFESFPAGSTLIFYKYCDHENAAFKDVALVLTVLLEEETLEASVGPRETEEKVRDLLWAKFTNSDTPTSFNHMDSDKLSGLWSRISHLVLPVQPVSSIEEQGCLF
" misc_feature 818..820 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /experiment="experimental evidence, no additional details recorded" /note="N-acetylalanine; propagated from UniProtKB/Swiss-Prot (Q8NFQ8.1); acetylation site" misc_feature 851..853 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q8NFQ8.1); phosphorylation site" misc_feature 857..2221 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /note="Lamina-associated polypeptide 1C (LAP1C); Region: LAP1C; pfam05609" /db_xref="CDD:114337" misc_feature 1172..1174 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q8NFQ8.1); phosphorylation site" misc_feature 1301..1303 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /experiment="experimental evidence, no additional details recorded" /note="Phosphoserine; propagated from UniProtKB/Swiss-Prot (Q8NFQ8.1); phosphorylation site" misc_feature 1457..1519 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /inference="non-experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (Q8NFQ8.1); transmembrane region" exon 849..1367 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /inference="alignment:Splign:1.39.8" exon 1368..1469 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /inference="alignment:Splign:1.39.8" exon 1470..8331 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /inference="alignment:Splign:1.39.8" variation 2309 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /replace="c" /replace="t" /db_xref="dbSNP:2647223" variation 2912 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /replace="c" /replace="t" /db_xref="dbSNP:200327541" STS 4797..5012 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /standard_name="RH80031" /db_xref="UniSTS:91103" STS 4799..6233 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /standard_name="G44334" /db_xref="UniSTS:95121" STS 5245..6369 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /standard_name="D11S3316" /db_xref="UniSTS:152558" STS 5245..5525 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /standard_name="D11S3316" /db_xref="UniSTS:152558" STS 5295..6361 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /standard_name="L18426" /db_xref="UniSTS:34648" STS 5295..5517 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /standard_name="L18426" /db_xref="UniSTS:34648" STS 5295..5377 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /standard_name="L18426" /db_xref="UniSTS:34648" STS 5492..6204 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /standard_name="GDB:434012" /db_xref="UniSTS:157204" STS 5503..6188 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /standard_name="L17709" /db_xref="UniSTS:42599" variation 5929 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /replace="c" /replace="g" /db_xref="dbSNP:11546310" STS 6177..6303 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /standard_name="D15S1477" /db_xref="UniSTS:474482" STS 6184..6271 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /standard_name="D8S2279" /db_xref="UniSTS:473907" STS 6940..7144 /gene="TOR1AIP2" /gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5" /standard_name="SHGC-75990" /db_xref="UniSTS:23109" ORIGIN
gacattcgggccgcggcggccgctgggtgcagccgagcggtgtggagcggagagaatactcgaagggctctcctgatactaacagttttacgatttaaaacttcgccagaatttcgacagggtctcactgtattgcccaggttggtctcgaactcctggcttcaagcgattctcccacctcagcctcccaaagtgctgggattacaggcgtgagccaccacgcctggcctcactcaaacagtaaacgaggtatgtgacgcattcccagactcttcagccaactgagcatcagcttcttcacagcaattgggtcctgattaatgtcctcccaagacagacttcattggatccacgatcaagaggactctgccaggtttttctgacccctctacattgctataaagtgccaaggccttaagacttgggtacgtgtgttacaacggcaagagtgccagcgccaacaaaagacccattggacctgtcagctcctctgtttcaccaagcagacacaataaccttaccaacaaagcagagtaagccaagtgcctctgtgtgacaccaccagcagctgatgacgcataagaaaaatataactaatttagactagagccctatctcttcttgagaagctgggatttgaaggagctatcctgagatctgtactgctatcactgtatatatgccttatttcctgggtccatgggaagcatgagtctgttgggacttgggacaagaagaaaacaagacatcttcacaaggaaaaccaagtactaaaaaaagtatcctcccaactctgaagagatagaacacaaacatggccgacagtggacttagggaacctcaagaggactctcaaaaggatttggaaaatgatccatcagtaaattctcaggcgcaggagaccacaatcatagcaagtaatgctgaagaagctgagatcctacactctgcctgtggtcttagcaaagaccaccaagaggtagagacagaaggtccagaaagtgcagatacaggtgataaatcagaaagtccagatgaagcaaatgtggggaaacatccaaaggataaaacagaagatgagaacaagcagagttttctggatggcggaaaagggcatcacctcccttcagaaaatctgggtaaagaacccttggatccagatcccagccattctccaagtgacaaggtaggaagagcagatgcacacttagggagcagctctgtggccctccctaaggaagcgagtgacggaactggagcatctcaggaaccacctactacagactcccaggaggcccagagtcctggtcattccagtgcagggcaagagggtgaggatacactgaggaggcgactgctggccccagaggctggaagtcatccacaacaaacacaaaaattggaagaaattaaagagaatgcacaggacaccatgagacagattaataaaaagggtttttggagctatggccctgtgattcttgtcgtcctggttgtggctgttgtggcaagttctgtgaatagctactattcctctccagcccagcaagtgcccaaaaatccagctttggaggcctttttggcccagtttagccaattggaagataaatttccaggccagagttccttcctgtggcagagaggacggaagtttctccagaagcacctcaatgcttccaaccccactgagccagccaccatcatatttacagcagctcgggagggaagagagaccctgaagtgcctgagccaccatgttgcagatgcctacacctcttcccagaaagtctctcccattcagattgatggggctggaaggacctggcaggacagtgacacggtcaagctgttggttgacctggagctgagctatgggtttgagaatggccagaaggctgctgtggtacaccacttcgaatccttccctgccggctccactttgatcttctataagtattgtgatcatgagaatgctgcctttaaagatgtggccctggtcctgactgttctgctagaggaggaaacattagaagcaagtgtaggcccaagggaaacggaagaaaaagtgagagacttactctgggccaagtttaccaactctgacactcccacctccttcaaccacatggactcagacaaattgagtgggctgtggagccgaatttcacacctggtactgccagtccagccagtgagtagcatagaagaacaggggtgccttttctaaagctaagcacagagttggttacagaaggtatatgtttatgaaaaagtttgtttaaagaccttccatttatatggaaggaggttgataaaatagcttgaggaaatagcctgaaaaacaaagatgagcttattttagaaacaagtttttattttttattccttgtaaaatctttctaatctaagccttgacaaagctaaaaattaacctgactttttttctttggaccaaatcaggtttgaaatatcgatgatatatatgagaattttttttaaattctaaaatatagcaacattgcacaggaagatactcttacttcttagagtaactacagagtgattttttttttttcttgagtgagactctgaagaaccttttcgataatgtttggacttggactaaagcaattagaattatgaagcaatgataacctttagaaaatttttctatcacatgttgaatattttcaaaccttactttaataatctaaagttacgggattatatcttatattaattttgcagttttgagtagtatgataaaagaaataagaattcaaaccattaagtacctacctaaatactacatgtaaggcactgtgcttttatttcattcagctgaggtataagcagctgtactcaaatgttcttaaaaatgagaaccagtggggaaattgtttataatcattggaaatgaagaaattccaattggctatatctttacttcagcttttcttgaacaatttacagcattgattttcaaactgtgtctactggcacccttcccctttgtatcagagcagttctgcttttaactgttttatatgttggggttctctatgagatttcattggaacaaagagtttcactgatattcgagtttgaaaaccattgattaagtgaaaaaacatcttagaagataggaaatatgtttaaaaaatgaatgtattaaatcttatgagtaggaagatgaaatacaggtttattgtatagatacattatttatgaaggataaagatctatacatgaacagcagaatgtataagctagcatttactagcatgtctctgatgcttttgttcatttctgttaatcgtcatttctgtcccctctgcatggaattttatacttgtctagggtaagagtttgtagactctttcagcagaacagattttaataaccaatttatttgttttattttaaaaatttatttttgaataaccaatttaatagtaaattttatatgaacatttggcataactttaccagtttatttctatgcagtgatggaacattatgtaatgcagctcatttcttgaccaactagttatagaagtaccattaggttaaaaattagagaaatctaagagatgttatacttagtgagaggaagcagaaatggtgggtagattctcagaggttttgatgttcagtactgacggaccatgttctgtgattgtaagaaagattgaaaacagtttgtatggagatagagttgattagcatttgagctctgaaagcagaactctagtaaaatgatctcgacctaacaaagggtctgttccattatatagactattaccataatcctggattatttcaactgggttttggcctctccattatatgagatcatatgtatatagctaagaagtctgattaaagtatggaaagattttaggaaacactaagaagatacagggatctttactgatacctaaaaagattacaattgagtaattgctcaattgagtgtaggggcatacctgaaggaagaatttgcatttgggacttcgaaggaagcttccaagagatttgggaagagacctgaacaaaaagttaaagcatggtgaatgtgatatcactgtcaatccagtataaaagcagaggaagttgaaggaaaatctgtatcccatatgcacattttttctgtctttttagatcttagatgctagcgttacatccacaaaaccagtgttgccttgtataactattatattggcctgctgacctgtgctacctcagatctgtcaaggaaccagtatgtcgcatattcttgtttcttcattcagttgaatatggtttttcatcatttctcttcaaaataatttagaaaaataaatttctaaagtcataatttttaatttagcctttttaaaaacattttcccttccatgtatagtgcaatcaattgagggtgttgtcagttttctgtctgctatttcaaaagtcttttttttttttttttttttttgagatggagtctcactctgactcccaggctgcagtgctgtggcttgatcatagctcactgtagctttaaactcctgggctcaagcaatcctcccaccttagcctcctgagtagccgggactacaagtgcagactaccacaccactctaccacactattttgtatagagacagggtcttactgtgttgcctaggctggtcttgaactcctggcctcaagtgatcctcccacctcagcgtcccaaagtgtttggattacagatgtgacccaatgcacccaaccaaacttcttttttttttttttttttttttgagagaaggtcttgctctgtcacccaggctggaatgcagtgcagtggcacaatctcatctcactgtaacctacacctcctgggttcaagtgattcttgtgcctcagcctcccaagtagctgggattacaggcatgcaccacaatgcccagctaattattgtatttttaatagagacgaggttttgctatgttgtccaggttggtctcgaactcctggcctcaattgatccgcctgccttggtctttcaaagtgctaggattataggcacgagccactgcacctggcctcaaaaatcatttttaaaagaagcagtatattagctctgggtcttctcatgactaaaatgactatttttaaacataagaccatattttataaatgtacagataattcaaatctattatctaatgtattaggttaatttctatttgttctatacttttttttttttttttttttttgagatggagtcttgctctgttgcccaggctggagtgcagtggtgcaatcttggctcactgcaagctccgcctcctgggttcatgccattctcctgcctcggccttccaagtagctgggactacaggtgcccgccccgacacctggctaatttttaaaaaaatatttttagtagagacagggtttcaccgtgttagccaggatggtctcgatctcctgacctcgtgatccgcccgctttggcctcccaaagtgctgggattacaggcgtgagccaccgcacccggcctattgacattttttaaggtttcagattttcttttgtgtgtctagtaattcgtcttttattgtcaaagataatttgcttatttgacttagaaaaatgatttgtgggcatacaatattgtatgtggtacctaaacgttgccatttagttactcttacagaacaactttcattacactgtatattaatataaattacttcttgagtaatcccagaattgtagaaccaattggtagaatcagaaactgtctttggacttgaggtttttcttcccttagggtaaattttaggttttctggttagtttccaggagttggcggacaagttcatatcactaaaggtgttcatatcactaaaatagtaatgctaatttgtttcatatttctattttaaaaagcaatcaataaagacatttcaatacatttcatttggaagcccccaagtgtatggtggttaataaggctcagcatgctggtaacccaccattctcttagctagtgactccactaaatagtgctagccgctgagatggttttgaccctttaacagcctttttttttttttgagacagagtttcactcttgttatccaggctggggtgcaatggtgcgatatctcggctcactgcaaccactgcctcccaggttcaagcgattctcctgcctcagcctgccaagtagctggattacaggcacgtgccatcacgcccagctaatttttgtatttttggtagagacggggtttccccacgttgaccaggctggtctcgaactcctcacctcaagtgatccacccgcctcggcctcccaaagtgctgggattacaggcgtgagccaccgcgactggcctacacagcttttaattgcttgatttatactttattaaagagaggaagcacaatgagcagtgatactaaaatataactaatatggcatgtgaaagtgatcattattcagatgatcttcaccaacactgcatttgcatatatctgaccaaactttatgcgacataggcaggtctctggcacttcaaaaatgaatgttaaatagaaaataataaataatagctgattagggtaatcatttatttaatcagaataaagattatatccataaaatttacttgcagagaagtactttctttttgttttaaagacagggtctcactctgtcacccaagctatggtgcagtggcacaatcacagctcactgcagcctggacctcctggcctcaaggggatgatcctcctacttcaggaattatgccaccatgcccggctagttgagaagtactttcaaatagcaacatgaagcctttcctttaccatttgaaaataaaacatagttgtaaacataaaccagtatgtctttgtaaagccaataatatatcattttataggagcattgtcttcttgtgtttttcaagttgactatgtagttcaatgtcagtctccattttaatatcttgtttgtttatcagcctgagcatatttcattttaaaatgtatttgttgagaagtcatggtggttttttgtttttcacaagtcaagtagcttgaacactatcacttgtccaatgggaaagttgatgcttatctttatggcaaatgcttggttgaataatatatttgcaaagatgttaattctacagagagctaaataaagttaagatacctgtaaaacagtttctccagatgactttaaaataagccttatttttgtaaatttatgttaaattttaggtgttaagttgtgaaatacctaatgatgtgggcctaaatttgcctcattcagactgagacagggctgttaaaattcatttctagctaataaactgtgctataacttctttattattattattattattattattatagtttaagttctgggatacatgtggagaacatgcaggtttgttaacataggtatacacgtgccatggtggtttgctgcacccatcaacccgtcatctacattaggtatttctcctaatgctatccctcccccagccccccaccccctgacaggccccagtgtgtgatgttccctgccctgtgtccaagtgttttctttgttcaattcccacctatgagtgagaacatgcgatgtttggtaaactgtgctataacttctgtatctctataggccaatccaaatggcctgagaacataatcagtatcccctaatctgcaaaaaggtaaataccttagtcttcagtacctttccttccagtattatctgcattatctgtgcccgcttgctgtgatgtcttgaaaagcccataaattggttcttattttggcaaatggtctcctgcttttcctcactgaggcttataaactaaatttgcctttggctaagcgcagttacatgaaccaaaaagaacattttagacttgggaagcaacaggctgagtcacattgtatggggcagagttggccaagcccccggcagtcacagccctactctctgtgttccttctaggcctgaggacgcatcaacacaaagctccaggcagttgctcctggttcatcagagagcacaggaaatttaaatctatttgcctttcctgtcataaaagaaacagcacactgactttcaaactcaattgcattttgcttatttgtgcttaacaaaaaatatgtgtgctttgccaatactaacgtcccacttctctgcactccctttctgtataacagggattgcttttgtatttgtttcttatagatgctgatgatgtgccttattcagattagttggccattaccagaataaagaataaatctgaatttttttca
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:163590 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: IEA GeneID:163590 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA GeneID:163590 -> Cellular component: GO:0031965 [nuclear membrane] evidence: IEA
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@meso_cacase at
DBCLS
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