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Aliases for TTF1 Gene

Aliases for TTF1 Gene

  • Transcription Termination Factor 1 2 3 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

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 Neuroendocrine Cell Hyperplasia Of Infancy. Among its related pathways are Gene Expression and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is DMTF1.

UniProtKB/Swiss-Prot 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

Additional gene information for TTF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TTF1 Gene

Genomics for TTF1 Gene

GeneHancer (GH) Regulatory Elements for TTF1 Gene

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
GH09I132404 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 559.6 +1.1 1052 3.5 PKNOX1 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 ETS1 POLR2B E2F8 TTF1 GC09P132448 SETX MED22 PIR62838
GH09I133029 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 54.6 -623.8 -623836 2.5 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 GTF3C5 LOC105376306 SETX TTF1 MED22 DDX31 TSC1 GTF3C4 BRD3OS SPACA9
GH09I132943 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 29.6 -537.7 -537664 2.5 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC TSC1 GFI1B MIR548AW SETX MED22 GTF3C5 TTF1 DDX31 MED27 RPL7A
GH09I133333 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.8 -928.4 -928412 4.2 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SURF6 WDR5 LOC100130548 TSC1 SURF1 BRD3 GTF3C5 GTF3C4 DDX31 TTF1
GH09I132349 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 11.6 +54.2 54155 7.1 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 SETX TTF1 GC09M132284
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TTF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TTF1 gene promoter:

Genomic Locations for TTF1 Gene

Genomic Locations for TTF1 Gene
chr9:132,375,548-132,406,871
(GRCh38/hg38)
Size:
31,324 bases
Orientation:
Minus strand
chr9:135,250,935-135,282,238
(GRCh37/hg19)

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; Positions=875; 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

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TTF1 Gene

GenScript: Design optimal peptide antigens:

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:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0001135 transcription factor activity, RNA polymerase II transcription factor recruiting IBA --
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IBA --
GO:0044212 transcription regulatory region DNA binding IBA --
genes like me logo Genes that share ontologies with TTF1: view
genes like me logo Genes that share phenotypes with TTF1: view

miRNA for TTF1 Gene

miRTarBase miRNAs that target TTF1

Clone Products

  • Addgene plasmids 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
plasma membrane 5
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleus (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,IBA 7597036
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA,IEA --
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:0006351 transcription, DNA-templated IEA --
GO:0006353 DNA-templated transcription, termination NAS 7597036
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0006363 termination of RNA polymerase I transcription 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

Unigene Clusters for TTF1 Gene

Transcription termination factor, RNA polymerase I:
Representative Sequences:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
TTF1

Expression for TTF1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TTF1 Gene



Protein tissue co-expression partners for TTF1 Gene

NURSA nuclear receptor signaling pathways regulating expression of TTF1 Gene:

TTF1

SOURCE GeneReport for Unigene cluster for TTF1 Gene:

Hs.54780

Evidence on tissue expression from TISSUES for TTF1 Gene

  • Liver(4.1)
genes like me logo Genes that share expression patterns with TTF1: view

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 33 34
  • 98.54 (n)
dog
(Canis familiaris)
Mammalia TTF1 33 34
  • 77.82 (n)
cow
(Bos Taurus)
Mammalia TTF1 33 34
  • 77.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TTF1 34
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ttf1 34
  • 52 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TTF1 34
  • 44 (a)
OneToOne
chicken
(Gallus gallus)
Aves TTF1 34
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii TTF1 (2 of 6) 34
  • 34 (a)
OneToMany
TTF1 (5 of 6) 34
  • 31 (a)
OneToMany
TTF1 (6 of 6) 34
  • 31 (a)
OneToMany
TTF1 (3 of 6) 34
  • 29 (a)
OneToMany
ttf1 34 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 17 (a)
OneToMany
Species where no ortholog for TTF1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for TTF1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs1000453968 -- 132,392,796(-) A/G intron_variant
rs1000562475 -- 132,381,693(-) C/T intron_variant
rs1000651619 -- 132,375,785(-) C/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000677138 -- 132,398,096(-) C/G intron_variant
rs1000696939 -- 132,386,480(-) A/G intron_variant

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

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

Disorders for TTF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TTF1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuroendocrine cell hyperplasia of infancy
  • nchi
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  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 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4 58

Products for TTF1 Gene

Sources for TTF1 Gene

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