Human Gene TTF1 (ENST00000334270.3_11) from GENCODE V47lift37
  Description: transcription termination factor 1, transcript variant 3 (from RefSeq NR_134525.2)
Gencode Transcript: ENST00000334270.3_11
Gencode Gene: ENSG00000125482.13_13
Transcript (Including UTRs)
   Position: hg19 chr9:135,250,935-135,282,227 Size: 31,293 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr9:135,251,302-135,278,208 Size: 26,907 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:135,250,935-135,282,227)mRNA (may differ from genome)Protein (905 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TTF1_HUMAN
DESCRIPTION: RecName: Full=Transcription termination factor 1; Short=TTF-1; AltName: Full=RNA polymerase I termination factor; AltName: Full=Transcription termination factor I; Short=TTF-I;
FUNCTION: Multifunctional nucleolar protein that terminates ribosomal gene transcription, mediates replication fork arrest and regulates RNA polymerase I transcription on chromatin. Plays a dual role in rDNA regulation, being involved in both activation and silencing of rDNA transcription. Interaction with BAZ2A/TIP5 recovers DNA-binding activity.
SUBUNIT: Oligomer. The oligomeric structure enables to interact simultaneously with two separate DNA fragments. Interacts with BAZ2A/TIP5.
SUBCELLULAR LOCATION: Nucleus. Nucleus, nucleolus (By similarity).
DOMAIN: The N-terminal region (NRD) inhibits DNA-binding via its interaction with the C-terminal region (By similarity).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Contains 2 Myb-like domains.
SEQUENCE CAUTION: Sequence=AAH62692.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAI04640.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence; Sequence=AAI27670.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=AAI27671.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=AAI43049.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=AAI43050.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part; Sequence=CAA58807.1; Type=Frameshift; Positions=875; Sequence=CAA58807.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TTF1
Diseases sorted by gene-association score: neuroendocrine cell hyperplasia of infancy (6), pulmonary surfactant metabolism dysfunction (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 11.35 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 265.81 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.2058-0.193 Picture PostScript Text
3' UTR -103.70367-0.283 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009057 - Homeodomain-like
IPR017877 - Myb-like_dom
IPR001005 - SANT/Myb

Pfam Domains:
PF13921 - Myb-like DNA-binding domain

SCOP Domains:
46689 - Homeodomain-like

ModBase Predicted Comparative 3D Structure on Q15361
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001135 transcription factor activity, RNA polymerase II transcription factor recruiting
GO:0003677 DNA binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006353 DNA-templated transcription, termination
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006363 termination of RNA polymerase I transcription
GO:0008156 negative regulation of DNA replication
GO:0030154 cell differentiation
GO:0044267 cellular protein metabolic process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005829 cytosol
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  BC127669 - Homo sapiens transcription termination factor, RNA polymerase I, mRNA (cDNA clone IMAGE:40128771), partial cds.
BC127670 - Homo sapiens transcription termination factor, RNA polymerase I, mRNA (cDNA clone IMAGE:40128773), partial cds.
BC143048 - Homo sapiens transcription termination factor, RNA polymerase I, mRNA (cDNA clone IMAGE:40128775), partial cds.
BC143049 - Homo sapiens transcription termination factor, RNA polymerase I, mRNA (cDNA clone IMAGE:40128776), partial cds.
AK302902 - Homo sapiens cDNA FLJ56521 complete cds, highly similar to Homo sapiens transcription termination factor, RNA polymerase I (TTF1), mRNA.
BC143821 - Homo sapiens cDNA clone IMAGE:9052336.
BC167784 - Synthetic construct Homo sapiens clone IMAGE:100068174, MGC:195791 transcription termination factor, RNA polymerase I (TTF1) mRNA, encodes complete protein.
X83973 - H.sapiens mRNA for TTF-I.
U02056 - Human clone 15 Alu repeat sequence.
BC050734 - Homo sapiens transcription termination factor, RNA polymerase I, mRNA (cDNA clone IMAGE:6500972), partial cds.
AK225119 - Homo sapiens mRNA for transcription termination factor, RNA polymerase I variant, clone: CAS10914.
BC062692 - Homo sapiens transcription termination factor, RNA polymerase I, mRNA (cDNA clone IMAGE:6711063), partial cds.
BC104639 - Homo sapiens transcription termination factor, RNA polymerase I, mRNA (cDNA clone IMAGE:6711040), partial cds.
JD221096 - Sequence 202120 from Patent EP1572962.
JD485929 - Sequence 466953 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q15361 (Reactome details) participates in the following event(s):

R-HSA-74987 TTF-I binds to the Sal Box
R-HSA-5683831 CCDC59 binds TTF1
R-HSA-74992 Dissociation of PTRF:Polymerase I/Nascent Pre rRNA Complex:TTF-I:Sal Box
R-HSA-427409 Nucleolar Remodelling Complex (NoRC) binds intergenic region of rDNA
R-HSA-74994 Polymerase I Transcription Complex/Nascent Pre rRNA Complex pauses at the TTF-I:Sal Box
R-HSA-427404 Recruitment of ERCC6 (CSB), EHMT2 (G9a), and NuRD to the promoter of rRNA gene
R-HSA-5685201 CCDC59:TTF1 binds SFTPC gene
R-HSA-5685208 CCDC59:TTF1 binds SFTPB gene
R-HSA-74993 PTRF Binds the Polymerase I Transcription Complex/Nascent Pre rRNA Complex paused at the TTF-I:Sal Box
R-HSA-427336 TTF1:rRNA promoter:ERCC6:EHMT2 complex dimethylates histone H3 at lysine-9.
R-HSA-73863 RNA Polymerase I Transcription Termination
R-HSA-427389 ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
R-HSA-427413 NoRC negatively regulates rRNA expression
R-HSA-5683826 Surfactant metabolism
R-HSA-5688031 Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS)
R-HSA-73864 RNA Polymerase I Transcription
R-HSA-5250913 Positive epigenetic regulation of rRNA expression
R-HSA-5250941 Negative epigenetic regulation of rRNA expression
R-HSA-392499 Metabolism of proteins
R-HSA-5687613 Diseases associated with surfactant metabolism
R-HSA-74160 Gene expression (Transcription)
R-HSA-212165 Epigenetic regulation of gene expression
R-HSA-5668914 Diseases of metabolism
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: A1L160, ENST00000334270.1, ENST00000334270.2, NR_134525, Q15361, Q4VXF3, Q58EY2, Q6P5T5, TTF1_HUMAN, uc317txg.1, uc317txg.2
UCSC ID: ENST00000334270.3_11
RefSeq Accession: NM_007344.4
Protein: Q15361 (aka TTF1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.