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2024-04-25 23:21:45, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_022347 7074 bp mRNA linear PRI 01-JUL-2013
DEFINITION Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript
variant 1, mRNA.
ACCESSION NM_022347 XR_108317
VERSION NM_022347.3 GI:312922354
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 7074)
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 7074)
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 7074)
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, AK289793.1, BC032790.1 and AL359853.18.
On or before Dec 1, 2010 this sequence version replaced
gi:310118780, gi:259490356.
Transcript Variant: This variant (1) represents the shorter
transcript and encodes isoform a, interferon alpha responsive
protein.
##Evidence-Data-START##
Transcript exon combination :: BP222544.1, AK289793.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-25 BP222544.1 1-25
26-865 AK289793.1 1-840
866-1094 BC032790.1 140-368
1095-1662 AK289793.1 1070-1637
1663-7074 AL359853.18 152336-157747 c
FEATURES Location/Qualifiers
source 1..7074
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q25.2"
gene 1..7074
/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="HPRD:17135"
/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..7074
/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"
misc_feature 919..921
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/note="upstream in-frame stop codon"
CDS 928..1323
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/note="isoform a is encoded by transcript variant 1;
interferon responsive gene 15; lumenal domain like LAP1;
torsin-1A-interacting protein 2; lumenal domain-like LAP1"
/codon_start=1
/product="interferon alpha responsive protein isoform a"
/protein_id="NP_071742.1"
/db_xref="GI:11641255"
/db_xref="CCDS:CCDS53439.1"
/db_xref="GeneID:163590"
/db_xref="HGNC:24055"
/db_xref="HPRD:17135"
/db_xref="MIM:614513"
/translation="
MFSDNSHCPDCGQQWFPSLELGHWLYQTELVENECYQVFLDRINRADYCPECYPDNPANRSLVLPWSFPLEWAPQNLTRWTFEKACHPFLLGPPLVRKRIHDSRVAGFNPALQLILTRTDKTLNKKLGQNK
"
STS 928..1323
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/db_xref="UniSTS:484730"
STS 2477..2923
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="D22S1584"
/db_xref="UniSTS:473695"
STS 2522..3201
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="L18506"
/db_xref="UniSTS:54024"
STS 2526..2917
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="D2S1254"
/db_xref="UniSTS:24950"
STS 2528..2906
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="L17809"
/db_xref="UniSTS:39087"
STS 2904..3004
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="D11S2921"
/db_xref="UniSTS:152074"
STS 2933..3002
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="D1S1423"
/db_xref="UniSTS:149619"
STS 2964..3350
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
STS 2964..3052
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
STS 2990..3201
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="L18506"
/db_xref="UniSTS:54024"
STS 3116..3282
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="GDB:434012"
/db_xref="UniSTS:157204"
STS 3262..3350
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="D8S2279"
/db_xref="UniSTS:473907"
STS 3392..3642
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="RH80416"
/db_xref="UniSTS:92333"
variation 3991
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/replace="c"
/replace="t"
/db_xref="dbSNP:1048418"
STS 4007..4134
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="SHGC-52567"
/db_xref="UniSTS:89709"
STS 6022..6162
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="D15S1390"
/db_xref="UniSTS:474340"
variation 6731
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/replace="a"
/replace="g"
/db_xref="dbSNP:1052460"
STS 6939..7030
/gene="TOR1AIP2"
/gene_synonym="IFRG15; LULL1; NET9; RP11-12M5.5"
/standard_name="RH102645"
/db_xref="UniSTS:96979"
ORIGIN
gacattcgggccgcggcggccgctgggtgcagccgagcggtgtggagcggagagaatactcgaagggctctcctgatactaacagttttacgatttaaaacttcgccagaatttcgacagggtctcactgtattgcccaggttggtctcgaactcctggcttcaagcgattctcccacctcagcctcccaaagtgctgggattacaggcgtgagccaccacgcctggcctcactcaaacagtaaacgaggtatgtgacgcattcccagactcttcagccaactgagcatcagcttcttcacagcaattgggtcctgattaatgtcctcccaagacagacttcattggatccacgatcaagaggactctgccaggtttttctgacccctctacattgctataaagtgccaaggccttaagacttgggtacgtgtgttacaacggcaagagtgccagcgccaacaaaagacccattggacctgtcagctcctctgtttcaccaagcagacacaataaccttaccaacaaagcagagtaagccaagtgcctctgtgtgacaccaccagcagctgatgacgcataagaaaaatataactaatttagactagagccctatctcttcttgagaagctgggatttgaaggagctatcctgagatctgtactgctagtaagtgactgataacattataaactggatcggtccctgagttcagagactgagttgcaattgagtgaaaaatagacaacgaaatcttgaagaattgcacggaggtgcaagccaagtttatttggctctccaaataatattggttgaactaagaaattggtaaacgaaacctgtaataggactggtgtttgggcgtctctctctgtcactgttgtctcttgctgtcacattgctgtctgtgttgtctttctaggtccagatgttttcagataattcacattgccctgattgtggacaacagtggttccctagtttagaactaggccactggttgtaccaaactgaacttgttgaaaatgaatgttaccaggtattcttagaccgtattaacagagctgattattgtcctgagtgttatcctgataatcctgctaatagaagccttgttcttccttggtctttcccacttgagtgggctccccagaatctcaccagatggacctttgagaaagcttgccatccatttcttctgggtcctccactggttagaaaaagaatacatgactctcgagtagctggttttaaccctgcattacagttaatcttgaccagaacagataaaaccttaaacaaaaaactgggccaaaacaaatagcttctataatagtcaaaattgtcaagtctagaggcttttgtgtaggtagcccaaggaagatggaaaaataattcatttctaagtctgacccagattgtcactactttgggaactgcttaaattgttggatctgcttccgtggcctatacatattttattcacatgaatttagttagtattccagccagcctgttcatctagactgaggctaatctgttcatctagactgaggctaatccgtatttcctataaactgttttggaactaacttaccactcctaaaaaaatttctgcaacctaatgagtgtcatatgacaaagtagtcctagaggggaagtcctatactgtgtgcttcatagtggtatttctaatgataacttttgtgggaaagcagcctcgttatagctggatcctagattagtccagtgaattttaataagaaattacactgttgtaaactcacctcttatgcattggtcagtgatgagatatatatataaatagatagatagataaaatttgctcttatatagccatttattcatcattggccctgtttggcccatcctcagtgtggctgtgagattattgataactggtcactgtcagataaatcacattctattaggaaacacctatataggttatgcagaaacatgcagaaatgccacctgtccatacttacgtggctttacataaacaaaagactgtcttgtctttgtggtgactgaatttacaacgtcctcccctggaaatggaaaagtacctatcaggagatgtatgacaaaagaaattatcaagcctgacttcatatatattatgaacagtctagaggaagcatctttcttagaactaaggaggtctgctgaacattggccacattctggactttcatgaaaatcatggacccagagttggggttaagccacttagaaaaagctgttgaaaacatctcaaaggccactgaacaatttttaaattacacttaacatgccaggtatctaggtatctagtgcttttagcaatattatcaatattatcaaggtcccagcttctttgtgtccttcccccttgcgatcctctttttttttttttttttttttgctttttaaaaaatagtgacagagtcttgctgtatgacccaggctggtctccaactcctaggctcaagccatcctcccacctcggtctcccaaggtgctgggattacaggcgtgagccaccctacccggcctaggatccatgtttgctttttatcgttaggtttttttttctcaatgagtacaatatgacttcttgttgtaacagacattttaatccctaggaaaggctggaagtagagagcaaaaggctttctttcaagtcagtgttttatttgggaatcaagtctttcccaaaaatccctagcaaatttcttcttacatctcattagaaagtaccagtttacaagggagcctgggaaaccttggcaaaggggaatagggttagcattgcctgggtaggccacattgcctccattgaagaaatcagggcttttttttttttttttttttttttgagacagagtctcactctgtcgcccaggctggagtgcagtggcagtcttggttcactgcaacctctgccttccgggttcaagcaattctcctgcctcagcctcccgagtagctgggactacaggtgtgcgccaccacacttggctaatttttgtatttttagtagagatggggtttcaccattgttggccaggatggtcttgatctcttgatctcatgatccacccgccttggcctcccaaagtgctgggattacaggcatgagccactgtgcccagcccttttttttttttttttttgacggagtctcgctctcttgcccaggatggagtgtagtggcacgatctcggcttactgtaacctccacctcctaggttcaagcaattctcctgcctcagcctcctgagtagtggggattacaggtgcccgccaccatgtctggctaatttttgtgtttttagtagagacggggtttcaccatgttggccaggctggtcttgaactcctgacctcagatgatccacctgccctgacctccgacagtgctgggattacaggcatagccaccgtgcctgaccagggctcttttagcaaggaaaacgtgaggaatgaatggctgttggtgtgcaacaaatcatacttgctacatgttgtgaaacctgaagttatttgttagtctgtatgaagaatgtaccccagagatgcaccctgtatctgccttatgtctcttacaatggaggttctctcctgttatattgctgaataaactatgtgaactgctaaattgactgaagactagttagtttatcactaactctttaatgaagaatttcactatcctacaactcctcctaaaaagtgaaaatttactttgagagagtgctttcgagaatagtattatgatcagtattattgcccctaaattttttaattattagagaatgcttatgttacaaggacatatactaagaaacattctacaaatgtgaaaatttaaatatcagcaaaatagagaaaaggtttttgtttttgttttagtcaatatctccattaaatagtaagatcagattaaaaggatttatatcattgatttctcaaatcaatacctaagcagtacctgtgagagcttgtttaaaaatggagatttcttggtctgctttagaaattttgattcctcaggttgcttgtagggcccaggaatctgcatattataaataacacctcatgccgggtgccatggcatgtacctgttaccacagctacttcagaggttgaggcagcaggatcacttgagcccaggagttcaagaccagcctgggcaagatagtcagaccactgtctctttcaagaaaaaaaaacaacataaaagatataaatagtacctttggagattctgatgcaggtgctctctagaccatactttgagaaatgctgtagtaatatgtccatagtgtttacttatctggcttaaaaggatgggagcagaatactcatagtactgcaagatagtaccatttatttggtaatactggctatgtaaaaagagatttcatgtcagactgaagatcactgttaataatttaggtcataactcagccacatttttctcattaattaaactaatcaggaatgtttcagtcttcttcacaaacagttttgttcagtgtcattataaactatgtgaatatatgggcaagaaaaatgaatcaaaaatattaattttaatattaagagggttactttgccttcaaacatcacatacctgttatatgataagctgtcagaaatcaacatcatgtagtagagctcataaaattgagcaaaggagaaaattgaggaagcctttgaacaaagcttttcaccttaggtctttctagtatgtcttcatatggcttaaaatattgcaggttattctagaatactccatagttgatatgaataatgaattttattaaaatataaatgctgtgttggtaaaattaattgtaatgacaaatgatctggagggttatccagtgttttaaatagtgtgagctacactcgtctctatttttatagtgtggaagagttggtaatattgcttatatgttatggtagcatttctaaaatgaccattataactactccctgttattttatggcagtccagggagtgaaaaggttaatggaaacatgcaagggcagaccggaaagaaaatacatccaccaaagaggtggctgttgggggatatgagtgagtgaggtaagattcatctctgagttacaggtgaaggaagcccaggcaaacaggaaggcagaaatgagtccatggcatccaaagaatatgtggcagtccacatgtcatagctgtctgtaaaagtgagatgagccgcagcccgttcatctctccagtctccctggcaaccctgagtctccatggaattttggggacacagcttgaaaattgctttttatagaggcaaaataatggccttgcagccagctgggtttctattctaattctgatactattaaatgaccttaggcattttaacctctctgtatctagtttcttcatctgtgaaaaaggttgtgtaataatacctacctcatactgttgtgaggtttaagtgcaataacatataccaaacatatggcacatactaaatctttaggatgaggaaagatgtagggcaagaaagcaaaagcagaagttagaactggggaataaggtagagtcttacttgttttgttttgtttttttgagacagagtctcgttctgtcacctaggctggagtgcagtggcgccatcatggctcactgcagccttgaccttctgggctcaagtgatcctcccacttcagccccctaagtagctgtgactacaggcttgcaccaccatgcccagctaatttttttatttttgtagagatggagtatcgccatgttgcccaagctggtcttgagctcctggcctcaagcgatcctctcacctgggcctcccaaagtgctgggattataggcatgagccgccgtgtccaccgagtcttagttttagaactaagccaattgtttgaactgatggctgaattattataaacttattggctggtggctcactgtaattccagcactttgggaggctgaggcaggaggatggcttgagcccaggagttcaaaacaagcctgagcaacatagtgagacccccaactctacaaaaaagttttaaaaagaaaaaaattagctggatgtggtggtatgtgcctgtagtcccagctactcaggaggctgaggtgggaggatcacttgagcctcagtgagctatgagcttgaggctgcagtgagctatgatggtactactgccctccagcctgggcaacagagtaaggccctttatctaaaaacaaaaacaaaaaacttcttaaatctctcctgatgaaggacaggattggtttggggatgaggttgagcctgtagtataagtcagatggtcttgggtgtaaagattaaaaggcctggagggatggatgaccgaaggcagatttttgtcacaatgtttaggcccattttataatcttaattatggtagatataattgctgtatgacttttatcacctgagactttccacaacactgaaataaacaaattcctgaagtggtagttccctgaaaaggaaaaagaagaaatagagaaaagttgaaggatatgtacaaattcactcaggtcatatgtactggagtcacaattcaaacctagatgtaagttttccagagtcagggtgcttgtggtatgcttaatacaagcttttaaaagtgtcatggttaggtcccacagctagactacctgagttcaaatcctaactgccctcagtagtcacgtgttcttgggtaacgttcttaacttttctgtatctcagtttcctcatctctaaaatagtaggaatattaatagtctacacctcataagattgttgtgaagattaaacgagttaataaagtgctgtgaatgatgcctggcacaaagaaggcactcaataaatagtagttcttatagttgttgtatatgctttatttgttactcgttttcatagcaggattgtaactacttgtttcagggccaagataccagtttctttttatccctagagcctaaaatggcatcattcactaaaataaaattgtgtttaaaaataaagatatatacttaattcta
//
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
by
@meso_cacase at
DBCLS
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