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GTF3A - general transcription factor IIIA Gene

Also Known as AP2; TFIIIA

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2971

About GTF3A

Cytogenetic location: 13q12.2 Genomic coordinates (GRCh38): 13:27,424,619-27,435,823 (from NCBI)

This gene has 8 transcripts (splice variants), 275 orthologues and 6 paralogues. Ubiquitous expression in fat (RPKM 54.8), heart (RPKM 50.8) and 25 other tissues.

Summary

The product of this gene is a Zinc Finger Protein with nine Cis[2]-His[2] zinc finger domains. It functions as an RNA polymerase III transcription factor to induce transcription of the 5S rRNA genes. The protein binds to a 50 bp internal promoter in the 5S genes called the internal control region (ICR), and nucleates formation of a stable preinitiation complex. This complex recruits the TFIIIC and TFIIIB transcription factors and RNA polymerase III to form the complete transcription complex. The protein is thought to be translated using a non-AUG translation initiation site in mammals based on sequence analysis, protein homology, and the size of the purified protein. [provided by RefSeq, Jul 2008]

GTF3A Products (1)

mRNA	Protein	Name
NM_002097.3	NP_002088.2	transcription factor IIIA

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Verweise	Source
enables 5S rRNA binding	IDA IDA: Inferred from direct assay	24120868	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in ribosomal large subunit biogenesis	IMP IMP: Inferred from mutant phenotype	24120868	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GTF3A Protein Structure

zf-H2C2_2

zf-C2H2

zf-C2H2_4

zf-C2H2

0
100
200
300
365 a.a.

Protein Preferred Names	Protein Names
transcription factor IIIA

Related Diseases

Diseases	Alias
Stocco Dos Santos Type X-Linked Intellectual Disability	X-Linked Intellectual Disability, Stocco Dos Santos Type Stocco Dos Santos Syndrome Sdsx Stocco Dos Santos X-Linked Mental Retardation Syndrome
Thrombasthenia
Non-Syndromic X-Linked Intellectual Disability 89	Mrx89
Open-Angle Glaucoma	Glaucoma Simplex Pigmentary Glaucoma Wide-Angle Glaucoma Glaucoma, Open-Angle Open Angle Glaucoma Glaucoma Open-Angle Chronic Simple Glaucoma Coag - [Chronic Open-Angle Glaucoma] Csg - [Chronic Simple Glaucoma] Poag - [Primary Open-Angle Glaucoma] Oag - [Open-Angle Glaucoma] Chronic Glaucoma Chronic Open Angle Glaucoma Simple Glaucoma Chronic Noncongestive Glaucoma Ltg - [Low Tension Glaucoma] Noncongestive Glaucoma Nonobstructive Glaucoma Normal Pressure Glaucoma Primary Low Tension Glaucoma Low-Tension Glaucoma Residual Stage Low Tension Glaucoma Open Cleft Glaucoma
Mental Retardation, X-Linked 92	MRX92 Intellectual Developmental Disorder, X-Linked 92 Non-Syndromic X-Linked Intellectual Disability 92 X-Linked Mental Retardation 92 Mental Retardation, X-Linked, Type 92
Digeorge Syndrome	Chromosome 22q11.2 Deletion Syndrome DGS Hypoplasia Of Thymus And Parathyroids Third And Fourth Pharyngeal Pouch Syndrome 22q11.2 Deletion Syndrome Digeorge Sequence Digeorge'S Syndrome Pharyngeal Pouch Syndrome Di-George Syndrome Shprintzen Syndrome
Cerebellofaciodental Syndrome	Cerebellar-Facial-Dental Syndrome CFDS

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS05905	GTF3A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	GTF3A	VGNC	VGNC:73315
Canis familiaris	GTF3A	VGNC	VGNC:58304
Mus musculus	GTF3A	MGD	MGI:1913846
Bos taurus	GTF3A	VGNC	VGNC:29701
Rattus norvegicus	GTF3A	RGD	RGD:619746
Felis catus	GTF3A	VGNC	VGNC:102220
Others	GTF3A	NCBI