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    RRN3 RRN3 homolog, RNA polymerase I transcription factor [ Homo sapiens (human) ]

    Gene ID: 54700, updated on 10-Dec-2024

    Summary

    Official Symbol
    RRN3provided by HGNC
    Official Full Name
    RRN3 homolog, RNA polymerase I transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:30346
    See related
    Ensembl:ENSG00000085721 MIM:605121; AllianceGenome:HGNC:30346
    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
    TIFIA; A-270G1.2
    Summary
    Enables RNA polymerase I core promoter sequence-specific DNA binding activity and RNA polymerase I general transcription initiation factor activity. Involved in transcription initiation at RNA polymerase I promoter. Located in nucleolus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in bone marrow (RPKM 15.3), thyroid (RPKM 14.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RRN3 in Genome Data Viewer
    Location:
    16p13.11
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (15060022..15094335, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (15061074..15095386, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (15153879..15188192, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene pyridoxal dependent decarboxylase domain containing 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:15106867-15106972 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:15109763-15110264 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:15110265-15110764 Neighboring gene microRNA 1972-1 Neighboring gene Sharpr-MPRA regulatory region 1947 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:15120969-15121592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:15121593-15122216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:15122498-15123030 Neighboring gene N-terminal asparagine amidase Neighboring gene ReSE screen-validated silencer GRCh37_chr16:15149302-15149486 Neighboring gene MPRA-validated peak2507 silencer Neighboring gene Sharpr-MPRA regulatory region 13846 Neighboring gene uncharacterized LOC100505915 Neighboring gene PKD1P6-NPIPP1 readthrough Neighboring gene nuclear pore complex interacting protein pseudogene 1 Neighboring gene polycystin 1, transient receptor potential channel interacting pseudogene 6 Neighboring gene microRNA 6511b-2

    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
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC104238, DKFZp566E104

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    RNA polymerase I-specific transcription initiation factor RRN3
    Names
    RRN3 RNA polymerase I transcription factor homolog
    TIF-IA
    transcription initiation factor IA
    transcription initiation factor TIF-IA

    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_001301064.1NP_001287993.1  RNA polymerase I-specific transcription initiation factor RRN3 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. It encodes isoform 2 which is shorter than isoform 1.
      Source sequence(s)
      AK316520, BC036182, CK906270, DA764092, DC376629
      Consensus CDS
      CCDS73833.1
      UniProtKB/TrEMBL
      B4DTK6, F5H148
      Related
      ENSP00000402027.2, ENST00000429751.6
      Conserved Domains (1) summary
      pfam05327
      Location:85555
      RRN3; RNA polymerase I specific transcription initiation factor RRN3
    2. NM_018427.5NP_060897.3  RNA polymerase I-specific transcription initiation factor RRN3 isoform 1

      See identical proteins and their annotated locations for NP_060897.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK225662, BC036182, BC132688
      Consensus CDS
      CCDS10559.1
      UniProtKB/Swiss-Prot
      A2RTY9, B4E0J7, B4E3T2, Q3MHU9, Q6IPL4, Q9H4F0, Q9NYV6
      UniProtKB/TrEMBL
      H3BMT1
      Related
      ENSP00000198767.7, ENST00000198767.11
      Conserved Domains (1) summary
      pfam05327
      Location:64585
      RRN3; RNA polymerase I specific transcription initiation factor RRN3

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      15060022..15094335 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187607.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      575341..609658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      15061074..15095386 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)