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

    Gene ID: 7270, updated on 9-Jun-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
    mouse all
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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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    NEW Try the new Transcript table

    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

      UniProtKB/TrEMBL
      B4DZG2

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

      UniProtKB/TrEMBL
      B4DZG2

    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

      UniProtKB/TrEMBL
      B4DZG2

    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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