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TTF1 transcription termination factor 1 [ Homo sapiens (human) ]

Gene ID: 7270, updated on 3-Apr-2024

Summary

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Official Symbol
TTF1provided by HGNC
Official Full Name
transcription termination factor 1provided by HGNC
Primary source
HGNC:HGNC:12397
See related
Ensembl:ENSG00000125482 MIM:600777; AllianceGenome:HGNC:12397
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TTF-1; TTF-I
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]
Annotation information
Note: TTF1 (GeneID 7270) and NKX2-1 (GeneID 7080) loci share the TTF1 symbol/alias in common. TTF1 is a widely used alternative name for thyroid transcription factor 1 (NKX2-1) conflicting with the official symbol for transcription termination factor, RNA polymerase I (TTF1). [13 Feb 2013]
Expression
Ubiquitous expression in thyroid (RPKM 5.3), testis (RPKM 4.8) and 25 other tissues See more
Orthologs
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Genomic context

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See TTF1 in Genome Data Viewer
Location:
9q34.13
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (132375548..132406840, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (144590014..144621286, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135250935..135282227, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902291 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135044919-135045676 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135045677-135046434 Neighboring gene Sharpr-MPRA regulatory region 1592 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135061794-135062407 Neighboring gene netrin G2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135082729-135083404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135083405-135084080 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:135089048-135089792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135115111-135115628 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20426 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20427 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135120407-135120912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135120913-135121418 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:135144739-135145938 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135171222-135171722 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:135171723-135172223 Neighboring gene senataxin Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29217 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:135229958-135231157 Neighboring gene Sharpr-MPRA regulatory region 6614 Neighboring gene uncharacterized LOC124902292 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29218 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29219 Neighboring gene uncharacterized LOC105376304 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20431 Neighboring gene cilia and flagella associated protein 77 Neighboring gene RNA, U5D small nuclear 2, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TTF-1: A Well-Favored Addition to the Immunohistochemistry Armamentarium as a Diagnostic Marker of SEGA.
    Title: TTF-1: A Well-Favored Addition to the Immunohistochemistry Armamentarium as a Diagnostic Marker of SEGA.
  2. Exploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma.
    Title: Exploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma.
  3. TTF1 expression is an independent predictor of survival of patients with advanced lung adenocarcinoma
    Title: Prognostic Value of Thyroid Transcription Factor-1 Expression in Patients with Advanced Lung Adenocarcinoma.
  4. the TTF-1 protein and mRNA are specifically expressed in schwannomas
    Title: Aberrant expression of thyroid transcription factor-1 in schwannomas.
  5. Human TTF-I localizes in the nucleolus and N-terminus (1-224) of hTTF-I which include nucleolus localization sequence and the expression of Human TTF-I 521-732 increased HIV-I production by regulating transactivation of the LTR promoter.
    Title: Investigation of functional roles of transcription termination factor-1 (TTF-I) in HIV-1 replication.
  6. These findings collectively suggest that the triple combination of survivin knockdown with ABT-263 and trametinib treatment, may be a potential strategy for the treatment of KRAS-mutant lung adenocarcinoma. Furthermore, our findings indicate that the welldifferentiated type of KRAS-mutant lung tumors depends, at least in part, on TTF1 for growth.
    Title: Survivin knockdown induces senescence in TTF‑1-expressing, KRAS-mutant lung adenocarcinomas.
  7. TTF-1 expression may serve as a predictive marker to identify lung cancer patients who may benefit from the addition of bevacizumab to platinum doublet therapy.
    Title: TTF-1 Expression Predicts the Merit of Additional Antiangiogenic Treatment in Non-squamous Non-small Cell Lung Cancer.
  8. Our results showed that an approach of using only a two-antibody panel (p40 and TTF-1) might help in reduction of diagnostic category of NSCLC-NOS significantly and contribute in saving tissue for future molecular testing
    Title: p40 & thyroid transcription factor-1 immunohistochemistry: A useful panel to characterize non-small cell lung carcinoma-not otherwise specified (NSCLC-NOS) category.
  9. Single nucleotide polymorphism in TTF1 gene is associated with Systemic lupus erythematosus
    Title: Novel linkage disequilibrium clustering algorithm identifies new lupus genes on meta-analysis of GWAS datasets.
  10. Case Report: KRAS mutation-positive bronchial surface epithelium type lung adenocarcinoma with strong expression of TTF-1.
    Title: KRAS mutation-positive bronchial surface epithelium (BSE)-type lung adenocarcinoma with strong expression of TTF-1: a case providing a further insight as for the role of TTF-1 in the oncogenesis.
Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA-templated transcription termination NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of DNA replication IEA
Inferred from Electronic Annotation
more info
  
involved_in termination of RNA polymerase I transcription IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in termination of RNA polymerase I transcription ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
is_active_in nucleolus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
transcription termination factor 1
Names
transcription termination factor, RNA polymerase I

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001205296.2 → NP_001192225.1  transcription termination factor 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AL353701, BC127670, BP209178
    Consensus CDS
    CCDS75925.1
    UniProtKB/TrEMBL
    A0A087WY09
    Related
    ENSP00000481441.1, ENST00000612514.4
    Conserved Domains (1) summary
    pfam13921
    Location:106 → 162
    Myb_DNA-bind_6; Myb-like DNA-binding domain

  2. NM_007344.4 → NP_031370.2  transcription termination factor 1 isoform 1

    See identical proteins and their annotated locations for NP_031370.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AL353701
    Consensus CDS
    CCDS6948.1
    UniProtKB/Swiss-Prot
    A1L160, Q15361, Q4VXF3, Q58EY2, Q6P5T5
    UniProtKB/TrEMBL
    B4DZG2
    Related
    ENSP00000333920.2, ENST00000334270.3
    Conserved Domains (1) summary
    pfam13921
    Location:621 → 677
    Myb_DNA-bind_6; Myb-like DNA-binding domain

RNA

  1. NR_134525.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL353701, BC143821, BG685121, BP209178, BU195816

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    132375548..132406840 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006717273.5 → XP_006717336.3  transcription termination factor 1 isoform X2

  2. XM_047423838.1 → XP_047279794.1  transcription termination factor 1 isoform X1

RNA

  1. XR_007061344.1 RNA Sequence

  2. XR_007061343.1 RNA Sequence

  3. XR_007061342.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    144590014..144621286 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054363719.1 → XP_054219694.1  transcription termination factor 1 isoform X2

RNA

  1. XR_008488064.1 RNA Sequence

  2. XR_008488063.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q15361.3 GenPept UniProtKB/Swiss-Prot:Q15361

Gene LinkOut

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