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... See more...

Aliases for TTF1 Gene

Aliases for TTF1 Gene

  • Transcription Termination Factor 1 2 3 4 5
  • Transcription Termination Factor, RNA Polymerase I 2 3
  • TTF-1 3 4
  • TTF-I 3 4
  • RNA Polymerase I Termination Factor 4
  • Transcription Termination Factor I 4
  • TTF1 5

External Ids for TTF1 Gene

Previous GeneCards Identifiers for TTF1 Gene

  • GC09M126276
  • GC09M126808
  • GC09M128604
  • GC09M130526
  • GC09M132280
  • GC09M134240
  • GC09M135250
  • GC09M104744

Summaries for TTF1 Gene

Entrez Gene Summary for TTF1 Gene

  • 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]

CIViC Summary for TTF1 Gene

GeneCards Summary for TTF1 Gene

TTF1 (Transcription Termination Factor 1) is a Protein Coding gene. Diseases associated with TTF1 include Cervical Carcinosarcoma and Borjeson-Forssman-Lehmann Syndrome. Among its related pathways are Human Thyroid Stimulating Hormone (TSH) signaling pathway and Diseases of metabolism. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is SNAPC4.

UniProtKB/Swiss-Prot Summary for TTF1 Gene

  • 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.

Gene Wiki entry for TTF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TTF1 Gene

Genomics for TTF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TTF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J132404 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 259.5 +1.0 1032 3.5 SP1 MYC POLR2A MXD4 CTCF SMAD5 SIN3A ELK1 ETS1 TBP TTF1 lnc-CFAP77-2 GTF3C5 DDX31 TSC1 SETX GTF3C4 piR-37097-123
GH09J132407 Promoter 0.7 Ensembl 250.7 -1.4 -1350 1.2 IKZF1 NFIC BHLHE40 RAD51 MAFG ARID1B CREB1 MNT CBFA2T3 EMSY CFAP77 lnc-CFAP77-2 TTF1 piR-60635
GH09J133029 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 57.7 -623.8 -623750 3.6 BCLAF1 SP1 ZNF207 MYC NCOR1 IKZF1 ZNF600 SIX5 ZNF580 ATF2 GTF3C5 LOC105376306 RF00017-7434 SETX TTF1 MED22 TSC1 DDX31 GTF3C4 SPACA9
GH09J132944 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 40.9 -537.5 -537450 3 SP1 ZNF207 NCOR1 MYC ZNF600 ZNF580 ZMYM3 ATF2 KLF9 ZNF10 TSC1 GFI1B MIR548AW lnc-SPACA9-1 SETX GTF3C5 MED22 DDX31 TTF1 GTF3C4
GH09J132402 Promoter 0.3 EPDnew 250.7 +4.6 4623 0.1 TTF1 piR-37097-123 SETX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TTF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TTF1

Top Transcription factor binding sites by QIAGEN in the TTF1 gene promoter:
  • C/EBPalpha
  • Cart-1
  • CHOP-10
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for TTF1 Gene

Latest Assembly
chr9:132,375,548-132,406,851
(GRCh38/hg38)
Size:
31,304 bases
Orientation:
Minus strand

Previous Assembly
chr9:135,250,935-135,282,227
(GRCh37/hg19 by Entrez Gene)
Size:
31,293 bases
Orientation:
Minus strand

chr9:135,251,008-135,282,209
(GRCh37/hg19 by Ensembl)
Size:
31,202 bases
Orientation:
Minus strand

Genomic View for TTF1 Gene

Genes around TTF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TTF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TTF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TTF1 Gene

Proteins for TTF1 Gene

  • Protein details for TTF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15361-TTF1_HUMAN
    Recommended name:
    Transcription termination factor 1
    Protein Accession:
    Q15361
    Secondary Accessions:
    • A1L160
    • Q4VXF3
    • Q58EY2
    • Q6P5T5

    Protein attributes for TTF1 Gene

    Size:
    905 amino acids
    Molecular mass:
    103051 Da
    Quaternary structure:
    • Oligomer. The oligomeric structure enables to interact simultaneously with two separate DNA fragments. Interacts with BAZ2A/TIP5. Interacts with CAVIN1.
    SequenceCaution:
    • Sequence=AAH62692.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI04640.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAI27670.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=AAI27671.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=AAI43049.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=AAI43050.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305}; Sequence=CAA58807.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=CAA58807.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};

neXtProt entry for TTF1 Gene

Post-translational modifications for TTF1 Gene

  • Ubiquitination at Lys765
  • Modification sites at PhosphoSitePlus

Other Protein References for TTF1 Gene

No data available for DME Specific Peptides for TTF1 Gene

Domains & Families for TTF1 Gene

Gene Families for TTF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TTF1 Gene

Suggested Antigen Peptide Sequences for TTF1 Gene

GenScript: Design optimal peptide antigens:
  • Transcription termination factor I (TTF1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15361

UniProtKB/Swiss-Prot:

TTF1_HUMAN :
  • The N-terminal region (NRD) inhibits DNA-binding via its interaction with the C-terminal region.
Domain:
  • The N-terminal region (NRD) inhibits DNA-binding via its interaction with the C-terminal region.
genes like me logo Genes that share domains with TTF1: view

Function for TTF1 Gene

Molecular function for TTF1 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for TTF1 Gene

Gene Ontology (GO) - Molecular Function for TTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA 21873635
GO:0005515 protein binding IPI 28169274
genes like me logo Genes that share ontologies with TTF1: view
genes like me logo Genes that share phenotypes with TTF1: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTF1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TTF1 Gene

Localization for TTF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TTF1 Gene

Nucleus. Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TTF1 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 7597036
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IBA,IDA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with TTF1: view

Pathways & Interactions for TTF1 Gene

genes like me logo Genes that share pathways with TTF1: view

SIGNOR curated interactions for TTF1 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for TTF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006353 DNA-templated transcription, termination NAS 7597036
GO:0006363 termination of RNA polymerase I transcription IBA,TAS --
GO:0008156 negative regulation of DNA replication IEA --
GO:0044267 cellular protein metabolic process TAS --
genes like me logo Genes that share ontologies with TTF1: view

Drugs & Compounds for TTF1 Gene

No Compound Related Data Available

Transcripts for TTF1 Gene

mRNA/cDNA for TTF1 Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TTF1

Alternative Splicing Database (ASD) splice patterns (SP) for TTF1 Gene

No ASD Table

Relevant External Links for TTF1 Gene

GeneLoc Exon Structure for
TTF1

Expression for TTF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TTF1 Gene

Protein differential expression in normal tissues from HIPED for TTF1 Gene

This gene is overexpressed in Lung (50.1), Blymphocyte (8.3), and Adipocyte (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TTF1 Gene



Protein tissue co-expression partners for TTF1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TTF1

SOURCE GeneReport for Unigene cluster for TTF1 Gene:

Hs.54780

Evidence on tissue expression from TISSUES for TTF1 Gene

  • Liver(4.3)
genes like me logo Genes that share expression patterns with TTF1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TTF1 Gene

Orthologs for TTF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TTF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TTF1 29 30
  • 98.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TTF1 29 30
  • 77.82 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TTF1 29 30
  • 77.49 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TTF1 30
  • 65 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ttf1 30
  • 52 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TTF1 30
  • 44 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TTF1 30
  • 51 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii TTF1 (2 of 6) 30
  • 34 (a)
OneToMany
TTF1 (6 of 6) 30
  • 31 (a)
OneToMany
TTF1 (5 of 6) 30
  • 31 (a)
OneToMany
ttf1 30 30
  • 29 (a)
OneToMany
TTF1 (3 of 6) 30
  • 29 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 17 (a)
OneToMany
Species where no ortholog for TTF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TTF1 Gene

ENSEMBL:
Gene Tree for TTF1 (if available)
TreeFam:
Gene Tree for TTF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TTF1: view image
Alliance of Genome Resources:
Additional Orthologs for TTF1

Paralogs for TTF1 Gene

Paralogs for TTF1 Gene

genes like me logo Genes that share paralogs with TTF1: view

Variants for TTF1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TTF1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs141270032 Benign: not provided 132,401,709(-) T/C
NM_007344.4(TTF1):c.1113A>G (p.Glu371=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON
rs141751698 Benign: not provided 132,401,882(-) C/G
NM_007344.4(TTF1):c.940G>C (p.Val314Leu)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
rs142692524 Likely Benign: not provided 132,402,087(-) C/T
NM_007344.4(TTF1):c.735G>A (p.Glu245=)
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,INTRON
rs148256256 Benign: not provided 132,400,231(-) A/C
NM_007344.4(TTF1):c.1395T>G (p.Asn465Lys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR
rs61746239 Benign: not provided 132,398,210(-) C/G
NM_007344.4(TTF1):c.1708G>C (p.Asp570His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TTF1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TTF1 Gene

Variant ID Type Subtype PubMed ID
dgv4531e59 CNV duplication 20981092
esv2678054 CNV deletion 23128226
esv2739127 CNV deletion 23290073
esv2739129 CNV deletion 23290073
esv2739130 CNV deletion 23290073
nsv1078091 CNV duplication 25765185
nsv1110583 CNV duplication 24896259
nsv1117528 CNV tandem duplication 24896259
nsv1139373 CNV deletion 24896259
nsv1141035 CNV deletion 24896259
nsv1141650 CNV duplication 24896259
nsv1148188 CNV insertion 26484159
nsv6741 CNV deletion 18451855

Variation tolerance for TTF1 Gene

Residual Variation Intolerance Score: 98.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.18; 75.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TTF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TTF1
Leiden Open Variation Database (LOVD)
TTF1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TTF1 Gene

Disorders for TTF1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TTF1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
cervical carcinosarcoma
  • cervical malignant mixed mesodermal mullerian tumor
borjeson-forssman-lehmann syndrome
  • bfls
ovarian small cell carcinoma
  • small cell carcinoma of the ovary
congenital hypothyroidism
  • neonatal hypothyroidism
- elite association - COSMIC cancer census association via MalaCards
Search TTF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TTF1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TTF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TTF1 Gene

Publications for TTF1 Gene

  1. Molecular coevolution of mammalian ribosomal gene terminator sequences and the transcription termination factor TTF-I. (PMID: 7597036) Evers R … Grummt I (Proceedings of the National Academy of Sciences of the United States of America 1995) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. The mitotically phosphorylated form of the transcription termination factor TTF-1 is associated with the repressed rDNA transcription machinery. (PMID: 10504331) Sirri V … Hernandez-Verdun D (Journal of cell science 1999) 3 22
  4. Reciprocal expression of trefoil factor-1 and thyroid transcription factor-1 in lung adenocarcinomas. (PMID: 32237253) Matsubara D … Niki T (Cancer science 2020) 3
  5. H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. (PMID: 30804502) Nakamura K … Groth A (Nature cell biology 2019) 3

Products for TTF1 Gene

  • Addgene plasmids for TTF1

Sources for TTF1 Gene