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    GTF3A general transcription factor IIIA [ Homo sapiens (human) ]

    Gene ID: 2971, updated on 27-Nov-2024

    Summary

    Official Symbol
    GTF3Aprovided by HGNC
    Official Full Name
    general transcription factor IIIAprovided by HGNC
    Primary source
    HGNC:HGNC:4662
    See related
    Ensembl:ENSG00000122034 MIM:600860; AllianceGenome:HGNC:4662
    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
    AP2; TFIIIA
    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]
    Expression
    Ubiquitous expression in fat (RPKM 54.8), heart (RPKM 50.8) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See GTF3A in Genome Data Viewer
    Location:
    13q12.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (27424619..27435823)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (26645370..26656576)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (27998756..28009960)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:27977989-27978559 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5200 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5201 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5202 Neighboring gene RNY1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7504 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:28002174-28002554 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:28008622-28009821 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32805 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:28023938-28024852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7507 Neighboring gene Sharpr-MPRA regulatory region 13742 Neighboring gene mitochondrial translational initiation factor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7508 Neighboring gene RNA, U6 small nuclear 63, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32806 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32807 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32809 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:28107144-28107644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:28107645-28108145 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32810 Neighboring gene ligand of numb-protein X 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:28194694-28195422 Neighboring gene RNA polymerase I and III subunit D

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 5S rRNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in rRNA transcription TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in ribosomal large subunit biogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transcription by RNA polymerase III TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    NCBI Reference Sequences (RefSeq)

    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_002097.3NP_002088.2  transcription factor IIIA

      See identical proteins and their annotated locations for NP_002088.2

      Status: REVIEWED

      Source sequence(s)
      AL137059, AW627732, BP254755, D32257, U20272
      Consensus CDS
      CCDS45019.1
      UniProtKB/Swiss-Prot
      B7ZBK5, Q12963, Q13097, Q92664
      UniProtKB/TrEMBL
      A0A1X7SBT5
      Related
      ENSP00000370532.5, ENST00000381140.10
      Conserved Domains (2) summary
      COG5048
      Location:64187
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:4564
      ZF_C2H2; C2H2 Zn finger [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      27424619..27435823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      26645370..26656576
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)