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2024-04-26 17:23:43, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_005131 2133 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens THO complex 1 (THOC1), mRNA.
ACCESSION NM_005131
VERSION NM_005131.2 GI:154448889
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 2133)
AUTHORS Guo,S., Liu,M. and Godwin,A.K.
TITLE Transcriptional regulation of hTREX84 in human cancer cells
JOURNAL PLoS ONE 7 (8), E43610 (2012)
PUBMED 22952718
REMARK GeneRIF: overexpression of hTREX84 is associated with cancer cell
transformation, proliferation and may be regulated by RelA/p65
REFERENCE 2 (bases 1 to 2133)
AUTHORS Dominguez-Sanchez,M.S., Barroso,S., Gomez-Gonzalez,B., Luna,R. and
Aguilera,A.
TITLE Genome instability and transcription elongation impairment in human
cells depleted of THO/TREX
JOURNAL PLoS Genet. 7 (12), E1002386 (2011)
PUBMED 22144908
REMARK GeneRIF: We show that human THO depletion impairs transcription
elongation and mRNA export and increases instability associated
with DNA breaks, leading to hyper-recombination and gammaH2AX and
53BP1 foci accumulation
REFERENCE 3 (bases 1 to 2133)
AUTHORS Liu,Y., Blackwood,D.H., Caesar,S., de Geus,E.J., Farmer,A.,
Ferreira,M.A., Ferrier,I.N., Fraser,C., Gordon-Smith,K.,
Green,E.K., Grozeva,D., Gurling,H.M., Hamshere,M.L., Heutink,P.,
Holmans,P.A., Hoogendijk,W.J., Hottenga,J.J., Jones,L., Jones,I.R.,
Kirov,G., Lin,D., McGuffin,P., Moskvina,V., Nolen,W.A.,
Perlis,R.H., Posthuma,D., Scolnick,E.M., Smit,A.B., Smit,J.H.,
Smoller,J.W., St Clair,D., van Dyck,R., Verhage,M., Willemsen,G.,
Young,A.H., Zandbelt,T., Boomsma,D.I., Craddock,N., O'Donovan,M.C.,
Owen,M.J., Penninx,B.W., Purcell,S., Sklar,P. and Sullivan,P.F.
CONSRTM Wellcome Trust Case-Control Consortium
TITLE Meta-analysis of genome-wide association data of bipolar disorder
and major depressive disorder
JOURNAL Mol. Psychiatry 16 (1), 2-4 (2011)
PUBMED 20351715
REFERENCE 4 (bases 1 to 2133)
AUTHORS Dominguez-Sanchez,M.S., Saez,C., Japon,M.A., Aguilera,A. and
Luna,R.
TITLE Differential expression of THOC1 and ALY mRNP biogenesis/export
factors in human cancers
JOURNAL BMC Cancer 11, 77 (2011)
PUBMED 21329510
REMARK GeneRIF: A differential connection between tumorogenesis and the
expression levels of human THO and ALY.
Publication Status: Online-Only
REFERENCE 5 (bases 1 to 2133)
AUTHORS Davila,S., Froeling,F.E., Tan,A., Bonnard,C., Boland,G.J.,
Snippe,H., Hibberd,M.L. and Seielstad,M.
TITLE New genetic associations detected in a host response study to
hepatitis B vaccine
JOURNAL Genes Immun. 11 (3), 232-238 (2010)
PUBMED 20237496
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 6 (bases 1 to 2133)
AUTHORS Beausoleil,S.A., Jedrychowski,M., Schwartz,D., Elias,J.E.,
Villen,J., Li,J., Cohn,M.A., Cantley,L.C. and Gygi,S.P.
TITLE Large-scale characterization of HeLa cell nuclear phosphoproteins
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (33), 12130-12135 (2004)
PUBMED 15302935
REFERENCE 7 (bases 1 to 2133)
AUTHORS Dennehey,B.K., Gutches,D.G., McConkey,E.H. and Krauter,K.S.
TITLE Inversion, duplication, and changes in gene context are associated
with human chromosome 18 evolution
JOURNAL Genomics 83 (3), 493-501 (2004)
PUBMED 14962675
REFERENCE 8 (bases 1 to 2133)
AUTHORS Strasser,K., Masuda,S., Mason,P., Pfannstiel,J., Oppizzi,M.,
Rodriguez-Navarro,S., Rondon,A.G., Aguilera,A., Struhl,K., Reed,R.
and Hurt,E.
TITLE TREX is a conserved complex coupling transcription with messenger
RNA export
JOURNAL Nature 417 (6886), 304-308 (2002)
PUBMED 11979277
REFERENCE 9 (bases 1 to 2133)
AUTHORS Doostzadeh-Cizeron,J., Evans,R., Yin,S. and Goodrich,D.W.
TITLE Apoptosis induced by the nuclear death domain protein p84N5 is
inhibited by association with Rb protein
JOURNAL Mol. Biol. Cell 10 (10), 3251-3261 (1999)
PUBMED 10512864
REFERENCE 10 (bases 1 to 2133)
AUTHORS Durfee,T., Mancini,M.A., Jones,D., Elledge,S.J. and Lee,W.H.
TITLE The amino-terminal region of the retinoblastoma gene product binds
a novel nuclear matrix protein that co-localizes to centers for RNA
processing
JOURNAL J. Cell Biol. 127 (3), 609-622 (1994)
PUBMED 7525595
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DA902294.1, BC010381.1, AP000845.4 and AK225709.1.
On Aug 2, 2007 this sequence version replaced gi:4826881.
Summary: HPR1 is part of the TREX (transcription/export) complex,
which includes TEX1 (MIM 606929), THO2 (MIM 300395), ALY (MIM
604171), and UAP56 (MIM 142560).[supplied by OMIM, Nov 2010].
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 :: AK225067.1, BC010381.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-504 DA902294.1 1-504
505-696 BC010381.1 496-687
697-697 AP000845.4 102272-102272 c
698-2027 BC010381.1 689-2018
2028-2133 AK225709.1 1992-2097
FEATURES Location/Qualifiers
source 1..2133
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="18"
/map="18p11.32"
gene 1..2133
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/note="THO complex 1"
/db_xref="GeneID:9984"
/db_xref="HGNC:19070"
/db_xref="MIM:606930"
exon 1..94
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
CDS 41..2014
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/note="nuclear matrix protein p84; tho1; hTREX84"
/codon_start=1
/product="THO complex subunit 1"
/protein_id="NP_005122.2"
/db_xref="GI:154448890"
/db_xref="CCDS:CCDS45820.1"
/db_xref="GeneID:9984"
/db_xref="HGNC:19070"
/db_xref="MIM:606930"
/translation="
MSPTPPLFSLPEARTRFTKSTREALNNKNIKPLLSTFSQVPGSENEKKCTLDQAFRGILEEEIINHSSCENVLAIISLAIGGVTEGICTASTPFVLLGDVLDCLPLDQCDTIFTFVEKNVATWKSNTFYSAGKNYLLRMCNDLLRRLSKSQNTVFCGRIQLFLARLFPLSEKSGLNLQSQFNLENVTVFNTNEQESTLGQKHTEDREEGMDVEEGEMGDEEAPTTCSIPIDYNLYRKFWSLQDYFRNPVQCYEKISWKTFLKYSEEVLAVFKSYKLDDTQASRKKMEELKTGGEHVYFAKFLTSEKLMDLQLSDSNFRRHILLQYLILFQYLKGQVKFKSSNYVLTDEQSLWIEDTTKSVYQLLSENPPDGERFSKMVEHILNTEENWNSWKNEGCPSFVKERTSDTKPTRIIRKRTAPEDFLGKGPTKKILMGNEELTRLWNLCPDNMEACKSETREHMPTLEEFFEEAIEQADPENMVENEYKAVNNSNYGWRALRLLARRSPHFFQPTNQQFKSLPEYLENMVIKLAKELPPPSEEIKTGEDEDEEDNDALLKENESPDVRRDKPVTGEQIEVFANKLGEQWKILAPYLEMKDSEIRQIECDSEDMKMRAKQLLVAWQDQEGVHATPENLINALNKSGLSDLAESLTNDNETNS
"
misc_feature 41..43
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/experiment="experimental evidence, no additional details
recorded"
/note="N-acetylmethionine; propagated from
UniProtKB/Swiss-Prot (Q96FV9.1); acetylation site"
misc_feature 44..46
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q96FV9.1); phosphorylation site"
misc_feature 248..1663
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/note="THO complex subunit 1 transcription elongation
factor; Region: efThoc1; pfam11957"
/db_xref="CDD:204796"
misc_feature 437..439
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (Q96FV9.1); acetylation site"
misc_feature 938..940
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/experiment="experimental evidence, no additional details
recorded"
/note="N6-acetyllysine; propagated from
UniProtKB/Swiss-Prot (Q96FV9.1); acetylation site"
misc_feature 1280..1330
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/experiment="experimental evidence, no additional details
recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q96FV9.1);
Region: Nuclear localization signal"
misc_feature 1718..1720
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q96FV9.1); phosphorylation site"
misc_feature 1733..1990
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/note="Death domain of Nuclear Matrix Protein P84; Region:
Death_NMPP84; cd08318"
/db_xref="CDD:176733"
exon 95..168
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 169..229
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 230..296
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 297..415
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
variation 388
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/replace="c"
/replace="g"
/db_xref="dbSNP:1042463"
exon 416..464
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
variation 421
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/replace="a"
/replace="c"
/db_xref="dbSNP:1126730"
variation 428
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/replace="g"
/replace="t"
/db_xref="dbSNP:1126729"
exon 465..560
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 561..643
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 644..717
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 718..826
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 827..958
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 959..1059
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 1060..1126
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 1127..1177
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 1178..1248
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 1249..1344
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 1345..1410
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 1411..1494
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 1495..1642
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
STS 1554..1811
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/standard_name="Thoc1"
/db_xref="UniSTS:497276"
exon 1643..1718
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
exon 1719..2120
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/inference="alignment:Splign:1.39.8"
STS 1804..2065
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
/standard_name="RH17645"
/db_xref="UniSTS:53277"
polyA_signal 2101..2106
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
polyA_site 2120
/gene="THOC1"
/gene_synonym="HPR1; P84; P84N5"
ORIGIN
aggcgccgcagcgcagtggcgggcacgcgcagccgagaagatgtctccgacgccgccgctcttcagtttgcccgaagcgcggacgcggtttacgaagtctaccagagaggccttgaacaacaaaaacatcaagccattgttaagtaccttcagccaggtacctggcagtgaaaatgaaaaaaaatgtacccttgaccaagctttcagaggtattctagaagaagaaattataaatcattcatcatgtgaaaacgttttagctattatttctcttgctattgggggagtaactgaaggtatttgtaccgcatctacaccttttgtattgttgggagatgttttggattgtcttcctttggatcagtgtgacacaatattcacttttgtggaaaaaaatgttgctacttggaaatcaaatacattctattctgctgggaaaaattacttactacgtatgtgcaatgatctcctaagaagattgtctaaatcccagaatacagtcttctgtggacggattcagctctttttggccaggcttttccctctgtctgagaaatcaggtcttaacttgcagagtcagtttaatctggaaaatgtcactgttttcaatacaaatgagcaggaaagcaccctgggtcagaagcacactgaagatagagaagaaggaatggatgtagaagaaggcgaaatgggagacgaggaagctccaacaacgtgctctattccaattgattacaacctgtatcgaaaattctggtcacttcaggattacttcaggaaccctgtgcaatgctatgagaagatttcatggaaaacttttctcaagtattctgaagaagttttagctgtttttaagagttataaattagatgatactcaggcctcaagaaaaaagatggaagaattgaaaacaggaggagaacatgtatattttgcaaaatttttaacaagtgaaaagctgatggatttacaactgagtgacagtaactttcgtcgacacatcctgttgcagtatctcattttattccaatatctcaaggggcaggtcaaattcaaaagttcaaactatgttttaactgatgagcaatcactttggattgaagatactacaaaatcagtttatcaactactatctgaaaacccccccgatggagaaagattttcaaagatggtagagcatatattaaacactgaagaaaactggaactcgtggaaaaatgaaggttgcccaagttttgtgaaagaaagaacatcagataccaaacctacgagaataattcggaagagaacagcacccgaggacttcctagggaaaggacccaccaaaaaaattctgatgggaaatgaggagttaacaaggctttggaatctttgccctgataatatggaagcctgtaaatcagagacaagggaacacatgcccactttggaggaattctttgaagaagccattgaacaggcagaccctgaaaatatggtggaaaatgaatataaggctgtgaacaattcaaattatggttggagagccctgagactattagcacggagaagccctcacttcttccagccaaccaaccagcagtttaaaagtttaccagaatatcttgaaaatatggtaataaagctagccaaggaattaccgcctccttctgaagaaataaaaacaggtgaggatgaagatgaggaagataatgatgctctactgaaggaaaatgaaagtcctgatgttcggcgagacaaacctgtaacaggagaacaaatagaggtatttgccaacaagctgggtgaacaatggaagattctggctccctacttggaaatgaaagactcagaaattaggcagattgagtgtgacagtgaagacatgaagatgagagctaagcagctcctggttgcctggcaagatcaagagggagttcatgcaacacctgagaatctgattaatgcactgaataagtctggattaagtgaccttgcagaaagtctaactaatgacaatgagacaaatagttagcttcttttttttttctttttattaaaactgtgatagattttgttaccaagcagcatttgataagaggtccactggttttggtaaacaataaacatttttataacaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:9984 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
GeneID:9984 -> Molecular function: GO:0003723 [RNA binding] evidence: IEA
GeneID:9984 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:9984 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA
GeneID:9984 -> Biological process: GO:0006396 [RNA processing] evidence: TAS
GeneID:9984 -> Biological process: GO:0006397 [mRNA processing] evidence: IEA
GeneID:9984 -> Biological process: GO:0006406 [mRNA export from nucleus] evidence: IDA
GeneID:9984 -> Biological process: GO:0006915 [apoptotic process] evidence: IDA
GeneID:9984 -> Biological process: GO:0007165 [signal transduction] evidence: IEA
GeneID:9984 -> Biological process: GO:0008380 [RNA splicing] evidence: IEA
GeneID:9984 -> Biological process: GO:0032784 [regulation of DNA-dependent transcription, elongation] evidence: IDA
GeneID:9984 -> Biological process: GO:0046784 [intronless viral mRNA export from host nucleus] evidence: IDA
GeneID:9984 -> Cellular component: GO:0000346 [transcription export complex] evidence: IDA
GeneID:9984 -> Cellular component: GO:0000347 [THO complex] evidence: IDA
GeneID:9984 -> Cellular component: GO:0000445 [THO complex part of transcription export complex] evidence: IDA
GeneID:9984 -> Cellular component: GO:0005634 [nucleus] evidence: IDA
GeneID:9984 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA
GeneID:9984 -> Cellular component: GO:0005737 [cytoplasm] evidence: IDA
GeneID:9984 -> Cellular component: GO:0016363 [nuclear matrix] evidence: IEA
GeneID:9984 -> Cellular component: GO:0016607 [nuclear speck] evidence: IEA
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