Aliases for POLR1F Gene

Aliases for POLR1F Gene

  • RNA Polymerase I Subunit F 2 3 5
  • DNA-Directed RNA Polymerase I Subunit RPA43 3 4
  • DNA-Directed RNA Polymerase I Subunit F 3 4
  • Twist Neighbor Protein 3 4
  • TWISTNB 3 4
  • RPA43 2 3
  • A43 2 3
  • TWIST Neighbor 2
  • POLR1F 5

External Ids for POLR1F Gene

Previous HGNC Symbols for POLR1F Gene

  • TWISTNB

Summaries for POLR1F Gene

GeneCards Summary for POLR1F Gene

POLR1F (RNA Polymerase I Subunit F) is a Protein Coding gene. Diseases associated with POLR1F include Saethre-Chotzen Syndrome. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and RNA Polymerase III Transcription Initiation. An important paralog of this gene is POLR2G.

UniProtKB/Swiss-Prot Summary for POLR1F Gene

  • DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLR1F Gene

Genomics for POLR1F Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLR1F Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J019707 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 271.5 +0.6 637 3.2 BCLAF1 SP1 ZNF654 ZNF207 MYC ZNF592 KLF9 POLR2A CEBPA ZNF10 POLR1F MIR3146 FERD3L
GH07J020328 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 18.2 -622.9 -622895 6.9 ZNF207 ZNF600 JUND ATF2 ZNF10 POLR2A ZIC2 ZBTB10 BCL11A SIN3A ITGB8-AS1 ITGB8 lnc-ABCB5-7 POLR1F ABCB5
GH07J020214 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 -509.1 -509115 8.4 BCLAF1 SP1 ZNF207 NCOR1 IKZF1 MYC SIX5 SSRP1 ZNF592 POLR2A MACC1 LOC100506098 lnc-TMEM196-3 POLR1F RPL21P75 HSALNG0056479 ITGB8
GH07J019676 Enhancer 0.7 Ensembl 16.6 +31.8 31836 1.2 RUNX1 IKZF1 BMI1 NFATC1 JUNB TCF12 MEIS2 ZNF217 ARID1B SMARCE1 POLR1F piR-39858-581 piR-32985-024 FERD3L
GH07J020598 Enhancer 0.8 FANTOM5 ENCODE 11.5 -889.6 -889596 0.4 ZNF654 CTCF REST TRIM22 RAD21 SMC3 ZNF189 PKNOX1 ZNF24 ZNF143 HSALNG0056502 POLR1F TMEM196 ITGB8 ABCB5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLR1F on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLR1F

Genomic Locations for POLR1F Gene

Latest Assembly
chr7:19,695,461-19,709,037
(GRCh38/hg38)
Size:
13,577 bases
Orientation:
Minus strand

Previous Assembly
chr7:19,735,084-19,748,660
(GRCh37/hg19 by Entrez Gene)
Size:
13,577 bases
Orientation:
Minus strand

chr7:19,735,085-19,748,710
(GRCh37/hg19 by Ensembl)
Size:
13,626 bases
Orientation:
Minus strand

Genomic View for POLR1F Gene

Genes around POLR1F on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR1F Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLR1F Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR1F Gene

Proteins for POLR1F Gene

  • Protein details for POLR1F Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3B726-RPA43_HUMAN
    Recommended name:
    DNA-directed RNA polymerase I subunit RPA43
    Protein Accession:
    Q3B726
    Secondary Accessions:
    • A0PJ45
    • B7Z724

    Protein attributes for POLR1F Gene

    Size:
    338 amino acids
    Molecular mass:
    37432 Da
    Quaternary structure:
    • Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits (By similarity). Interacts with RRN3/TIF-IA.
    SequenceCaution:
    • Sequence=AAH14574.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for POLR1F Gene

Post-translational modifications for POLR1F Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POLR1F Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POLR1F Gene

Domains & Families for POLR1F Gene

Gene Families for POLR1F Gene

Protein Domains for POLR1F Gene

Suggested Antigen Peptide Sequences for POLR1F Gene

GenScript: Design optimal peptide antigens:
  • Twist neighbor protein (RPA43_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3B726

UniProtKB/Swiss-Prot:

RPA43_HUMAN :
  • Belongs to the eukaryotic RPA43 RNA polymerase subunit family.
Family:
  • Belongs to the eukaryotic RPA43 RNA polymerase subunit family.
genes like me logo Genes that share domains with POLR1F: view

Function for POLR1F Gene

Molecular function for POLR1F Gene

UniProtKB/Swiss-Prot Function:
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters.

Phenotypes From GWAS Catalog for POLR1F Gene

Gene Ontology (GO) - Molecular Function for POLR1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003899 contributes_to DNA-directed 5'-3' RNA polymerase activity IBA 21873635
genes like me logo Genes that share ontologies with POLR1F: view
genes like me logo Genes that share phenotypes with POLR1F: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR1F

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POLR1F Gene

Localization for POLR1F Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR1F Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POLR1F gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLR1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0005736 RNA polymerase I complex IBA 21873635
genes like me logo Genes that share ontologies with POLR1F: view

Pathways & Interactions for POLR1F Gene

genes like me logo Genes that share pathways with POLR1F: view

Gene Ontology (GO) - Biological Process for POLR1F Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0006362 transcription elongation from RNA polymerase I promoter TAS --
GO:0006363 termination of RNA polymerase I transcription TAS --
GO:0045815 positive regulation of gene expression, epigenetic TAS --
genes like me logo Genes that share ontologies with POLR1F: view

No data available for SIGNOR curated interactions for POLR1F Gene

Drugs & Compounds for POLR1F Gene

(4) Drugs for POLR1F Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine triphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Uridine triphosphate Experimental, Investigational Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for POLR1F Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
14000-31-8
genes like me logo Genes that share compounds with POLR1F: view

Transcripts for POLR1F Gene

mRNA/cDNA for POLR1F Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR1F

Alternative Splicing Database (ASD) splice patterns (SP) for POLR1F Gene

No ASD Table

Relevant External Links for POLR1F Gene

GeneLoc Exon Structure for
POLR1F

Expression for POLR1F Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLR1F

SOURCE GeneReport for Unigene cluster for POLR1F Gene:

Hs.353035

mRNA Expression by UniProt/SwissProt for POLR1F Gene:

Q3B726-RPA43_HUMAN
Tissue specificity: Widely expressed. Expressed in all fetal and adult tissues tested, with highest expression in fetal lung, liver, and kidney, and low expression in all adult tissues.

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLR1F Gene

Orthologs for POLR1F Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POLR1F Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TWISTNB 29 30
  • 99.11 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TWISTNB 29 30
  • 85.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TWISTNB 29 30
  • 84.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Twistnb 29
  • 81.28 (n)
Mouse
(Mus musculus)
Mammalia Twistnb 29 30
  • 80.56 (n)
OneToOne
Polr1f 16
Platypus
(Ornithorhynchus anatinus)
Mammalia TWISTNB 30
  • 58 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TWISTNB 30
  • 41 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TWISTNB 29 30
  • 65.03 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TWISTNB 30
  • 59 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5776 29
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.9460 29
Zebrafish
(Danio rerio)
Actinopterygii twistnb 30
  • 40 (a)
OneToOne
Dr.18556 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG13773 30
  • 28 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPA43 32
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 25 (a)
OneToOne
Species where no ortholog for POLR1F was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for POLR1F Gene

ENSEMBL:
Gene Tree for POLR1F (if available)
TreeFam:
Gene Tree for POLR1F (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POLR1F: view image
Alliance of Genome Resources:
Additional Orthologs for POLR1F

Paralogs for POLR1F Gene

Paralogs for POLR1F Gene

Pseudogenes.org Pseudogenes for POLR1F Gene

genes like me logo Genes that share paralogs with POLR1F: view

Variants for POLR1F Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for POLR1F Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for POLR1F Gene

Variant ID Type Subtype PubMed ID
nsv1018601 CNV gain 25217958
nsv524807 CNV gain 19592680
nsv830918 CNV loss 17160897

Variation tolerance for POLR1F Gene

Residual Variation Intolerance Score: 66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.58; 30.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLR1F Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR1F
Leiden Open Variation Database (LOVD)
POLR1F

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLR1F Gene

Disorders for POLR1F Gene

MalaCards: The human disease database

(1) MalaCards diseases for POLR1F Gene - From: COP

Disorder Aliases PubMed IDs
saethre-chotzen syndrome
  • scs
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POLR1F

Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with POLR1F: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POLR1F Gene

Publications for POLR1F Gene

  1. Identification and characterisation of the gene TWIST NEIGHBOR (TWISTNB) located in the microdeletion syndrome 7p21 region. (PMID: 12438708) Kosan C … Kunz J (Cytogenetic and genome research 2002) 2 3 4
  2. Basic mechanisms in RNA polymerase I transcription of the ribosomal RNA genes. (PMID: 23150253) Goodfellow SJ … Zomerdijk JC (Sub-cellular biochemistry 2013) 2 3
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4
  5. Multiple interactions between RNA polymerase I, TIF-IA and TAF(I) subunits regulate preinitiation complex assembly at the ribosomal gene promoter. (PMID: 12393749) Yuan X … Grummt I (EMBO reports 2002) 3 4

Products for POLR1F Gene

Sources for POLR1F Gene