GTF2A1 general transcription factor IIA subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GTF2A1provided by HGNC
Official Full Name: general transcription factor IIA subunit 1provided by HGNC
Primary source: HGNC:HGNC:4646
See related: Ensembl:ENSG00000165417 MIM:600520; AllianceGenome:HGNC:4646
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TF2A1; TFIIA; TFIIAL; TFIIA-42
Summary: Accurate transcription initiation on TATA-containing class II genes involves the ordered assembly of RNA polymerase II (POLR2A; MIM 180660) and several general initiation factors (summarized by DeJong and Roeder, 1993 [PubMed 8224848]). One of these factors is TFIIA, which when purified from HeLa extracts consists of 35-, 19-, and 12-kD subunits.[supplied by OMIM, Jul 2010]
Expression: Ubiquitous expression in thyroid (RPKM 15.3), testis (RPKM 12.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q31.1

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (81175452..81221390, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (75387683..75433560, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (81641796..81687734, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

De novo produced TFIIA is rapidly confined to the cytoplasm via an evolutionary conserved nuclear export signal (NES, amino acids 21VINDVRDIFL30), interacting with the nuclear export receptor Exportin-1/chromosomal region maintenance 1 (Crm1).
Title: TFIIA transcriptional activity is controlled by a 'cleave-and-run' Exportin-1/Taspase 1-switch.
Proteolytic processing of TFIIA by Taspase1 was found to mask evolutionary conserved nuclear export signal, thereby promoting nuclear localization and transcriptional activation of TFIIA target genes, such as CDKN2A.
Title: Disease-relevant signalling-pathways in head and neck cancer: Taspase1's proteolytic activity fine-tunes TFIIA function.
In a cohort of youth at risk for bipolar disorder, pathway analysis showed an enrichment of the glucocorticoid receptor (GR) pathway with the genes MED1, HSPA1L, GTF2A1 and TAF15, which might underlie the previously reported role of stress response in the risk for bipolar disorder in vulnerable populations.
Title: Integrated transcriptome and methylome analysis in youth at high risk for bipolar disorder: a preliminary analysis.
Data suggest that many TATA-box-containing promoters contain a TFIIA recognition element (IIARE) that activates transcription by increasing the recruitment of RNA polymerase II, TFIIA (TF2A1/TF2A2 subunits), TAF4, and P300. (TAF4 = TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1; P300 = E1A binding protein p300)
Title: A transcription factor IIA-binding site differentially regulates RNA polymerase II-mediated transcription in a promoter context-dependent manner.
The interaction of TBP-like protein with TFIIA is essential to suppress proteasome-dependent turnover of TBP-like protein
Title: Ubiquitin-proteasome-dependent degradation of TBP-like protein is prevented by direct binding of TFIIA.
Our results provide first evidence that Taspase1 processing affects TFIIA regulation of TFIID and suggest that Taspase1 processing of TFIIA is required to establish INR-selective core promoter activity in the presence of NC2.
Title: Taspase1 processing alters TFIIA cofactor properties in the regulation of TFIID.
GTF2A1 alone, or GTF2A1 plus HAAO are excellent candidate biomarkers for detecting Ovarian cancer
Title: Identification of candidate epigenetic biomarkers for ovarian cancer detection.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Interaction of polymorphisms in the interleukin 1B-31 and general transcription factor 2A1 genes on the susceptibility to gastric cancer.
TFIIA induces a conformational change within the TBP/TATA complex that enhances its stability under both in vitro and physiological salt conditions.
Title: TFIIA changes the conformation of the DNA in TBP/TATA complexes and increases their kinetic stability.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of general transcription factor IIA, 1, 19/37kDa (GTF2A1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat stabilizes the interaction of TFIIA with TFIID, and TFIIA and TFIID are required to reconstitute Tat-specific and TAR-dependent activation of HIV transcription in vitro	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH121039 (e-PCR)
- UniSTS:132253

RH91335 (e-PCR)
- UniSTS:88799

NoName (e-PCR)
- UniSTS:486635

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II core promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II general transcription initiation factor activity	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II general transcription initiation factor activity	TAS Traceable Author Statement more info	PubMed
enables RNA polymerase II general transcription initiation factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II-specific DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation more info
enables TBP-class protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA polymerase II preinitiation complex assembly	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription initiation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIIA complex	IBA Inferred from Biological aspect of Ancestor more info
part_of transcription factor TFIIA complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIIA complex	IPI Inferred from Physical Interaction more info	PubMed
part_of transcription factor TFIID complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription preinitiation complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription initiation factor IIA subunit 1

Names: TFIIA alpha/beta subunits; general transcription factor IIA 1; general transcription factor IIA, 1, 19/37kDa; glucose regulated protein, 58kD pseudogene; transcription initiation factor TFIIA 42 kDa subunit

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_001278940.2 → NP_001265869.1 transcription initiation factor IIA subunit 1 isoform 3

See identical proteins and their annotated locations for NP_001265869.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) includes an alternate exon and uses a downstream start codon compared to variant 1. It encodes isoform 3 which has a shorter N-terminus compared to isoform 1.

Source sequence(s)

AL136040, BC050703, BC107156

UniProtKB/Swiss-Prot

P52655

Conserved Domains (1) summary

pfam03153
Location:126 → 326

TFIIA; Transcription factor IIA, alpha/beta subunit
NM_015859.4 → NP_056943.1 transcription initiation factor IIA subunit 1 isoform 1

See identical proteins and their annotated locations for NP_056943.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AL136040, BC050703, D14887

Consensus CDS

CCDS9873.1

UniProtKB/Swiss-Prot

P52655, Q3KNQ9

Related

ENSP00000452454.1, ENST00000553612.6

Conserved Domains (1) summary

pfam03153
Location:13 → 376

TFIIA; Transcription factor IIA, alpha/beta subunit
NM_201595.3 → NP_963889.1 transcription initiation factor IIA subunit 1 isoform 2

See identical proteins and their annotated locations for NP_963889.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of 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)

AL136040, D14886

Consensus CDS

CCDS9874.1

UniProtKB/Swiss-Prot

P52655

Related

ENSP00000409492.2, ENST00000434192.2

Conserved Domains (1) summary

pfam03153
Location:1 → 337

TFIIA; Transcription factor IIA, alpha/beta subunit