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    POLR1F RNA polymerase I subunit F [ Homo sapiens (human) ]

    Gene ID: 221830, updated on 10-Dec-2024

    Summary

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    Official Symbol
    POLR1Fprovided by HGNC
    Official Full Name
    RNA polymerase I subunit Fprovided by HGNC
    Primary source
    HGNC:HGNC:18027
    See related
    Ensembl:ENSG00000105849 MIM:608312; AllianceGenome:HGNC:18027
    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
    A43; RPA43; TWISTNB
    Summary
    Predicted to be involved in transcription elongation by RNA polymerase I. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Part of RNA polymerase I complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 8.5), bone marrow (RPKM 7.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See POLR1F in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (19695461..19709037, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (19829933..19843507, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (19735084..19748660, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375179 Neighboring gene MPRA-validated peak6420 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_98149 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:19461410-19461934 Neighboring gene uncharacterized LOC105375180 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:19728484-19728984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:19731604-19732104 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:19747784-19748388 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:19748389-19748991 Neighboring gene uncharacterized LOC107986774 Neighboring gene microRNA 3146 Neighboring gene transmembrane protein 196 Neighboring gene uncharacterized LOC105379720

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Identification and characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region. Kosan C, et al. Cytogenet Genome Res, 2002. PMID 12438708
    2. Basic mechanisms in RNA polymerase I transcription of the ribosomal RNA genes. Goodfellow SJ, et al. Subcell Biochem, 2013. PMID 23150253, Free PMC Article
    3. Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7. Foroud T, et al. Stroke, 2014 Nov. PMID 25256182, Free PMC Article
    4. Structure of the human RNA polymerase I elongation complex. Zhao D, et al. Cell Discov, 2021 Oct 20. PMID 34671025, Free PMC Article
    5. The human RNA polymerase I structure reveals an HMG-like docking domain specific to metazoans. Daiß JL, et al. Life Sci Alliance, 2022 Nov. PMID 36271492, Free PMC Article

    See all (51) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. describe the localisation and characterisation of the TWIST NEIGHBOR (TWISTNB) gene
      Title: Identification and characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region.
    Submit: New GeneRIF Correction

    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

    EBI GWAS Catalog

    Description
    Genome-Wide Association Study of Intracranial Aneurysm Identifies a New Association on Chromosome 7.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA-templated transcription initiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cellular response to leukemia inhibitory factor IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transcription elongation by RNA polymerase I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of RNA polymerase I complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of RNA polymerase I complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    DNA-directed RNA polymerase I subunit RPA43
    Names
    DNA-directed RNA polymerase I subunit F
    twist neighbor protein

    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)

    1. NM_001002926.2 → NP_001002926.1  DNA-directed RNA polymerase I subunit RPA43

      See identical proteins and their annotated locations for NP_001002926.1

      Status: VALIDATED

      Source sequence(s)
      AC004940, AK090846, BC056267
      Consensus CDS
      CCDS34606.1
      UniProtKB/Swiss-Prot
      A0PJ45, B7Z724, Q3B726
      Related
      ENSP00000222567.5, ENST00000222567.6
      Conserved Domains (2) summary
      cd04328
      Location:40 → 126
      RNAP_I_Rpa43_N; Rpa43, N-terminal ribonucleoprotein (RNP) domain. Rpa43 is a subunit of eukaryotic RNA polymerase (RNAP) I that is homologous to Rpb7 of eukaryotic RNAP II, Rpc25 of eukaryotic RNP III, and RpoE of archaeal RNAP. Rpa43 has two domains, an N-terminal RNP ...
      pfam17875
      Location:125 → 157
      RPA43_OB; RPA43 OB domain in RNA Pol I

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      19695461..19709037 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      19829933..19843507 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3B726.1 GenPept UniProtKB/Swiss-Prot:Q3B726

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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