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

Summary

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

Location:: 9q34.13

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (132375548..132406840, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (144590014..144621286, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (135250935..135282227, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
Exploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma.
Title: Exploring immunoreactivity of TTF-1 and AVP in hypothalamic hamartoma.
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.
the TTF-1 protein and mRNA are specifically expressed in schwannomas
Title: Aberrant expression of thyroid transcription factor-1 in schwannomas.
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.
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.
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.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65956 (e-PCR)
- UniSTS:82732

NoName (e-PCR)
- UniSTS:494645

D15S1477 (e-PCR)
- UniSTS:474482

D9S1005E (e-PCR)
- UniSTS:151253

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)

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
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

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