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

Gene ID: 221830, updated on 7-Apr-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 enable DNA-directed 5'-3' RNA polymerase activity. Predicted to be involved in DNA-templated transcription, initiation. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in nucleoplasm. Predicted to be part of RNA polymerase I complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in endometrium (RPKM 8.5), bone marrow (RPKM 7.3) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7p21.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (19695461..19709037, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (19829933..19843507, complement)
105.20220307 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. Basic mechanisms in RNA polymerase I transcription of the ribosomal RNA genes. Goodfellow SJ, et al. Subcell Biochem, 2013. PMID 23150253, Free PMC Article
  2. 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
  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. Multiple interactions between RNA polymerase I, TIF-IA and TAF(I) subunits regulate preinitiation complex assembly at the ribosomal gene promoter. Yuan X, et al. EMBO Rep, 2002 Nov. PMID 12393749, Free PMC Article
  5. Identification of UHRF1/2 as new N-methylpurine DNA glycosylase-interacting proteins. Liang C, et al. Biochem Biophys Res Commun, 2013 Apr 19. PMID 23537643

See all (42) 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)

Genotypes

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_2023_10

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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