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2024-04-23 16:35:43, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_007344 3154 bp mRNA linear PRI 16-JUN-2013
DEFINITION Homo sapiens transcription termination factor, RNA polymerase I
(TTF1), transcript variant 1, mRNA.
ACCESSION NM_007344
VERSION NM_007344.3 GI:328927003
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 3154)
AUTHORS Sakaeda,M., Sato,H., Ishii,J., Miyata,C., Kamma,H.,
Shishido-Hara,Y., Shimoyamada,H., Fujiwara,M., Endo,T., Tanaka,R.,
Kondo,H., Goya,T., Aoki,I. and Yazawa,T.
TITLE Neural lineage-specific homeoprotein BRN2 is directly involved in
TTF1 expression in small-cell lung cancer
JOURNAL Lab. Invest. 93 (4), 408-421 (2013)
PUBMED 23358112
REMARK GeneRIF: TTF1 expression in small-cell lung cancer is a cell
lineage-specific phenomenon that involves the developing neural
cell-specific homeoprotein BRN2.
REFERENCE 2 (bases 1 to 3154)
AUTHORS Denby,K.S., Briones,A.J., Bourne,P.A., Spaulding,B.O., Lu,D.,
Fischer-Colbrie,R., Qu,Z., Wang,H.L. and Xu,H.
TITLE IMP3, NESP55, TTF-1 and CDX2 serve as an immunohistochemical panel
in the distinction among small-cell carcinoma, gastrointestinal
carcinoid, and pancreatic endocrine tumor metastasized to the liver
JOURNAL Appl. Immunohistochem. Mol. Morphol. 20 (6), 573-579 (2012)
PUBMED 22495359
REMARK GeneRIF: All 16 metastatic PETs were positively stained for IMP3
with 12 cases (75%) showing a diffuse and moderate-to-strong
staining pattern while they were negative for TTF-1
REFERENCE 3 (bases 1 to 3154)
AUTHORS Zu,Y.F., Wang,X.C., Chen,Y., Wang,J.Y., Liu,X., Li,X., Li,C.W.,
Xie,Y.C., Luo,Y., Shang,X.Q. and Guo,J.
TITLE Thyroid transcription factor 1 represses the expression of Ki-67
and induces apoptosis in non-small cell lung cancer
JOURNAL Oncol. Rep. 28 (5), 1544-1550 (2012)
PUBMED 22940844
REMARK GeneRIF: TTF-1 may serve as a tumor suppressor gene based on its
inverse correlation with Ki-67 proliferative activity and increase
of cellular apoptosis
REFERENCE 4 (bases 1 to 3154)
AUTHORS Sullivan,P.S., Maresh,E.L., Seligson,D.B., Habeeb,O., Wadehra,M.,
Goodglick,L. and Dorigo,O.
TITLE Expression of thyroid transcription factor-1 in normal endometrium
is associated with risk of endometrial cancer development
JOURNAL Mod. Pathol. 25 (8), 1140-1148 (2012)
PUBMED 22460811
REMARK GeneRIF: TTF-1 expression in normal endometrium is associated with
a reduced risk of endo-metrial cancer development.
REFERENCE 5 (bases 1 to 3154)
AUTHORS Sun,P.L., Seol,H., Lee,H.J., Yoo,S.B., Kim,H., Xu,X., Jheon,S.,
Lee,C.T., Lee,J.S. and Chung,J.H.
TITLE High incidence of EGFR mutations in Korean men smokers with no
intratumoral heterogeneity of lung adenocarcinomas: correlation
with histologic subtypes, EGFR/TTF-1 expressions, and clinical
features
JOURNAL J Thorac Oncol 7 (2), 323-330 (2012)
PUBMED 22237264
REMARK GeneRIF: High TTF-1 expression is associated with smoking and lung
adenocarcinoma histology
REFERENCE 6 (bases 1 to 3154)
AUTHORS Yoon,S.O., Kim,Y.T., Jung,K.C., Jeon,Y.K., Kim,B.H. and Kim,C.W.
TITLE TTF-1 mRNA-positive circulating tumor cells in the peripheral blood
predict poor prognosis in surgically resected non-small cell lung
cancer patients
JOURNAL Lung Cancer 71 (2), 209-216 (2011)
PUBMED 20471712
REMARK GeneRIF: TTF-1 mRNA-expressing CTCs might be a useful surrogate
predictor of disease progression for non-small cell lung cancer
(NSCLC) patients before clinical manifestations are apparent.
REFERENCE 7 (bases 1 to 3154)
AUTHORS Lessard,F., Morin,F., Ivanchuk,S., Langlois,F., Stefanovsky,V.,
Rutka,J. and Moss,T.
TITLE The ARF tumor suppressor controls ribosome biogenesis by regulating
the RNA polymerase I transcription factor TTF-I
JOURNAL Mol. Cell 38 (4), 539-550 (2010)
PUBMED 20513429
REMARK GeneRIF: Depletion of TTF-I recapitulates the effects of ARF on
ribosomal RNA synthesis and is rescued by the introduction of a
TTF-I transgene.
REFERENCE 8 (bases 1 to 3154)
AUTHORS Richard,P. and Manley,J.L.
TITLE Transcription termination by nuclear RNA polymerases
JOURNAL Genes Dev. 23 (11), 1247-1269 (2009)
PUBMED 19487567
REFERENCE 9 (bases 1 to 3154)
AUTHORS Sirri,V., Roussel,P. and Hernandez-Verdun,D.
TITLE The mitotically phosphorylated form of the transcription
termination factor TTF-1 is associated with the repressed rDNA
transcription machinery
JOURNAL J. Cell. Sci. 112 (PT 19), 3259-3268 (1999)
PUBMED 10504331
REFERENCE 10 (bases 1 to 3154)
AUTHORS Evers,R. and Grummt,I.
TITLE Molecular coevolution of mammalian ribosomal gene terminator
sequences and the transcription termination factor TTF-I
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 92 (13), 5827-5831 (1995)
PUBMED 7597036
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AL353701.15.
On Apr 15, 2011 this sequence version replaced gi:33356178.
Summary: This gene encodes a transcription termination factor that
is localized to the nucleolus and plays a critical role in
ribosomal gene transcription. The encoded protein mediates the
termination of RNA polymerase I transcription by binding to Sal box
terminator elements downstream of pre-rRNA coding regions.
Alternatively spliced transcript variants encoding multiple
isoforms have been observed for this gene. This gene shares the
symbol/alias 'TFF1' with another gene, NK2 homeobox 1, also known
as thyroid transcription factor 1, which plays a role in the
regulation of thyroid-specific gene expression. [provided by
RefSeq, Apr 2011].
Transcript Variant: This variant (1) represents the longer
transcript and encodes the longer isoform (1).
Sequence Note: The RefSeq transcript and protein were derived from
genomic sequence to make the sequence consistent with the reference
genome assembly. The genomic coordinates used for the transcript
record were based on 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 :: AK302902.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025088 [ECO:0000348]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-62 AL353701.15 87903-87964 c
63-1436 AL353701.15 82568-83941 c
1437-1660 AL353701.15 81148-81371 c
1661-1846 AL353701.15 79254-79439 c
1847-1925 AL353701.15 77546-77624 c
1926-2056 AL353701.15 73189-73319 c
2057-2291 AL353701.15 71710-71944 c
2292-2381 AL353701.15 69252-69341 c
2382-2447 AL353701.15 67669-67734 c
2448-2533 AL353701.15 60172-60257 c
2534-3154 AL353701.15 56661-57281 c
FEATURES Location/Qualifiers
source 1..3154
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="9"
/map="9q34.13"
gene 1..3154
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/note="transcription termination factor, RNA polymerase I"
/db_xref="GeneID:7270"
/db_xref="HGNC:12397"
/db_xref="HPRD:02866"
/db_xref="MIM:600777"
exon 1..62
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/inference="alignment:Splign:1.39.8"
exon 63..1436
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/inference="alignment:Splign:1.39.8"
CDS 70..2787
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/note="isoform 1 is encoded by transcript variant 1;
transcription termination factor 1"
/codon_start=1
/product="transcription termination factor 1 isoform 1"
/protein_id="NP_031370.2"
/db_xref="GI:33356179"
/db_xref="CCDS:CCDS6948.1"
/db_xref="GeneID:7270"
/db_xref="HGNC:12397"
/db_xref="HPRD:02866"
/db_xref="MIM:600777"
/translation="
MEGESSRFEIHTPVSDKKKKKCSIHKERPQKHSHEIFRDSSLVNEQSQITRRKKRKKDFQHLISSPLKKSRICDETANATSTLKKRKKRRYSALEVDEEAGVTVVLVDKENINNTPKHFRKDVDVVCVDMSIEQKLPRKPKTDKFQVLAKSHAHKSEALHSKVREKKNKKHQRKAASWESQRARDTLPQSESHQEESWLSVGPGGEITELPASAHKNKSKKKKKKSSNREYETLAMPEGSQAGREAGTDMQESQPTVGLDDETPQLLGPTHKKKSKKKKKKKSNHQEFEALAMPEGSQVGSEVGADMQESRPAVGLHGETAGIPAPAYKNKSKKKKKKSNHQEFEAVAMPESLESAYPEGSQVGSEVGTVEGSTALKGFKESNSTKKKSKKRKLTSVKRARVSGDDFSVPSKNSESTLFDSVEGDGAMMEEGVKSRPRQKKTQACLASKHVQEAPRLEPANEEHNVETAEDSEIRYLSADSGDADDSDADLGSAVKQLQEFIPNIKDRATSTIKRMYRDDLERFKEFKAQGVAIKFGKFSVKENKQLEKNVEDFLALTGIESADKLLYTDRYPEEKSVITNLKRRYSFRLHIGRNIARPWKLIYYRAKKMFDVNNYKGRYSEGDTEKLKMYHSLLGNDWKTIGEMVARSSLSVALKFSQISSQRNRGAWSKSETRKLIKAVEEVILKKMSPQELKEVDSKLQENPESCLSIVREKLYKGISWVEVEAKVQTRNWMQCKSKWTEILTKRMTNGRRIYYGMNALRAKVSLIERLYEINVEDTNEIDWEDLASAIGDVPPSYVQTKFSRLKAVYVPFWQKKTFPEIIDYLYETTLPLLKEKLEKMMEKKGTKIQTPAAPKQVFPFRDIFYYEDDSEGEDIEKESEGQAPCMAHACNSSTLGGQGRWII
"
misc_feature 70..738
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q15361.3);
Region: N-terminal region (NRD) (By similarity)"
misc_feature 262..264
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q15361.3); phosphorylation site"
misc_feature 262..264
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 787..789
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q15361.3); phosphorylation site"
misc_feature 787..789
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1276..1278
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q15361.3); phosphorylation site"
misc_feature 1495..1497
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphotyrosine; propagated from
UniProtKB/Swiss-Prot (Q15361.3); phosphorylation site"
misc_feature 1501..1503
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q15361.3); phosphorylation site"
misc_feature 1510..1512
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q15361.3); phosphorylation site"
misc_feature 1528..1530
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q15361.3); phosphorylation site"
misc_feature 1927..2100
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/note="Myb-like DNA-binding domain; Region:
Myb_DNA-bind_6; pfam13921"
/db_xref="CDD:206092"
misc_feature 2683..2685
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(Q15361.3); phosphorylation site"
misc_feature 2683..2685
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
variation 937
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/replace="g"
/replace="t"
/db_xref="dbSNP:8999"
variation 977
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/replace="c"
/replace="t"
/db_xref="dbSNP:3739914"
variation 1148
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/replace="g"
/replace="t"
/db_xref="dbSNP:3739915"
variation 1271
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/replace="a"
/replace="g"
/db_xref="dbSNP:3739916"
exon 1437..1660
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/inference="alignment:Splign:1.39.8"
exon 1661..1846
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/inference="alignment:Splign:1.39.8"
exon 1847..1925
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/inference="alignment:Splign:1.39.8"
exon 1926..2056
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/inference="alignment:Splign:1.39.8"
STS 1975..2055
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/standard_name="D9S1005E"
/db_xref="UniSTS:151253"
exon 2057..2291
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/inference="alignment:Splign:1.39.8"
exon 2292..2381
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/inference="alignment:Splign:1.39.8"
exon 2382..2447
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/inference="alignment:Splign:1.39.8"
exon 2448..2533
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/inference="alignment:Splign:1.39.8"
exon 2534..3154
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/inference="alignment:Splign:1.39.8"
STS 2795..2922
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/standard_name="D15S1477"
/db_xref="UniSTS:474482"
STS 2991..3114
/gene="TTF1"
/gene_synonym="TTF-1; TTF-I"
/standard_name="RH65956"
/db_xref="UniSTS:82732"
ORIGIN
acttccgcttcctcaacagcagcacttccgggttgggagaaaggtggcggcgctttcggagggaataaaatggaaggagaatcaagcagatttgaaatccacactccagtttctgacaagaaaaagaaaaagtgttctatacataaggaaagacctcagaaacattcccacgaaattttcagagactcctccctggtgaatgaacagtctcaaataactaggaggaaaaagaggaaaaaagatttccagcatctcatttcttctcctttgaaaaaatccagaatctgtgatgagactgcaaatgccacttccacactcaaaaagagaaaaaagagaagatatagtgctttggaggtggacgaggaagcaggtgttacagttgtccttgtggataaagaaaatattaacaacacaccaaagcattttagaaaggatgttgatgttgtttgtgttgatatgagcatagaacagaagttaccaagaaagcctaaaacagacaaatttcaggtacttgctaagtcacatgcacataaatcagaagccctgcacagtaaagttagggagaaaaagaataaaaagcatcagaggaaagctgcatcctgggagagccagcgggcaagggacaccctgcctcagtcagaatcccaccaggaggagtcctggctttctgtgggtccagggggtgaaattacagaactaccagcatctgctcataaaaacaagtctaagaaaaaaaagaaaaagtccagtaaccgggaatatgagacactggccatgcctgaaggatcgcaagcaggcagagaggccgggactgatatgcaggaatcccagcctactgtgggcttggatgatgaaactccacaactactaggacctactcacaaaaaaaagtctaagaaaaaaaagaagaaaaagtccaatcaccaggaatttgaggcattggccatgcctgaaggatcacaagtgggcagtgaggttggggctgatatgcaggaatcccggcctgctgtgggcctgcatggtgaaactgcaggaataccagcacctgcttataaaaacaagtctaagaaaaaaaagaaaaagtccaatcaccaggaatttgaggcagtggccatgcctgagagcctcgagagtgcataccctgaaggatcacaggtgggcagtgaggttgggactgtggaaggcagtacagctcttaaagggttcaaggaatccaacagtacaaagaagaagtctaagaaaaggaagcttacgtctgtcaaaagggcacgagtgtctggtgatgatttttcagtgcccagtaagaactctgagagcacactctttgattcagtagaaggtgatggcgccatgatggaagaaggtgtgaaatctaggccccgacaaaagaaaacccaggcctgtttggcaagcaagcacgtgcaagaggcgccaaggttagaacctgcaaatgaagaacacaatgtggaaacagctgaagattccgaaataagatacttatctgcagattcaggagatgccgatgattcagatgcggatttgggttctgccgtgaaacagcttcaggagttcattcctaacatcaaggacagggccaccagcacaatcaagcggatgtaccgggacgacttggaacggtttaaggaatttaaagcacaaggtgtcgctattaaatttggcaagttttctgtaaaggaaaataagcagttagagaaaaatgtggaagactttctagccctgacaggcattgagagtgcagacaagctgctgtacacggacagatatcctgaggaaaaatctgtgatcaccaacttaaaaaggagatactcgtttagattacacattggtaggaacattgcccggccctggaaacttatatactatcgagcaaagaagatgttcgatgtcaacaattacaaaggcaggtatagcgaaggagatactgagaagttaaagatgtaccattctctccttgggaatgactggaagacgattggtgagatggtggcccgaagtagcctctccgtggccctcaagttctcacagatcagcagtcaaagaaatcgtggtgcttggagtaagtctgaaacccggaaactaatcaaggctgtcgaagaagtgattctgaagaagatgtctccccaggagttaaaagaggtggattccaaactccaagaaaatcctgaaagttgcctatcaattgttcgggaaaaactctacaagggcatatcttgggtagaagtagaagctaaagtgcaaaccagaaattggatgcagtgtaaaagtaagtggacagaaattctaaccaagaggatgactaatggtcggcgtatctactatggcatgaatgccctgcgggccaaggtcagccttattgaaaggttgtatgaaataaatgtggaagatactaatgaaatagactgggaagatcttgctagtgccataggtgatgttcctccatcttacgttcaaactaaattttctaggctgaaagctgtctatgttccattttggcagaaaaagacttttccagagatcatcgactacctttatgagacgactctacctttgctgaaggaaaagttagaaaaaatgatggagaaaaaaggcactaaaatccagactcctgcagcacccaagcaagttttcccatttcgagacatcttttattatgaagacgatagtgaaggagaggacatagaaaaagaaagcgaaggccaggcgccatgcatggctcacgcctgtaattccagtactttgggaggccaaggccggtggatcatctgaggtcaggagttcgagaccggcctgaccaacatggtgaagacctgtcactattaaaaatgcaaaaattagccgggtgtggtagtgcacacctgtaatttcaactacttgggaggctgaggcaggagaattgcttgaacccaggaggtggaggttgcagtgagccaagatcgcaccaccgcatgagagagagagattactatttcttgtccctttttctcagtttgattatatttatatacatatgtcagtaaatctgttttcagtattgatgtttaataaagaatgtacaatggccagagttctactctttcctctggagcattaaaatatattgccattcctattaaaacgtatttgaatgtgaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:7270 -> Molecular function: GO:0003677 [DNA binding] evidence: IEA
GeneID:7270 -> Molecular function: GO:0003682 [chromatin binding] evidence: IEA
GeneID:7270 -> Biological process: GO:0006338 [chromatin remodeling] evidence: IEA
GeneID:7270 -> Biological process: GO:0006353 [DNA-dependent transcription, termination] evidence: NAS
GeneID:7270 -> Biological process: GO:0006355 [regulation of transcription, DNA-dependent] evidence: IEA
GeneID:7270 -> Biological process: GO:0006360 [transcription from RNA polymerase I promoter] evidence: TAS
GeneID:7270 -> Biological process: GO:0006361 [transcription initiation from RNA polymerase I promoter] evidence: IEA
GeneID:7270 -> Biological process: GO:0006363 [termination of RNA polymerase I transcription] evidence: TAS
GeneID:7270 -> Biological process: GO:0008156 [negative regulation of DNA replication] evidence: IEA
GeneID:7270 -> Biological process: GO:0010467 [gene expression] evidence: TAS
GeneID:7270 -> Cellular component: GO:0005634 [nucleus] evidence: NAS
GeneID:7270 -> Cellular component: GO:0005654 [nucleoplasm] evidence: TAS
GeneID:7270 -> Cellular component: GO:0005730 [nucleolus] evidence: IEA
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