Aliases for POLR1G Gene

Aliases for POLR1G Gene

  • RNA Polymerase I Subunit G 2 3
  • CD3e Molecule Associated Protein 2 3 5
  • CD3EAP 3 4 5
  • ASE-1 2 3 4
  • PAF49 2 3 4
  • CAST 2 3 4
  • CD3e Antigen, Epsilon Polypeptide Associated Protein 2 3
  • DNA-Directed RNA Polymerase I Subunit RPA34 3 4
  • RNA Polymerase I-Associated Factor PAF49 3 4
  • Antisense To ERCC-1 Protein 3 4
  • RPA34 2 3
  • A34.5 2 4
  • ASE1 3 4
  • CD3e Molecule, Epsilon Associated Protein 3
  • DNA-Directed RNA Polymerase I Subunit G 4
  • CD3 Epsilon Associated Protein 2
  • CD3-Epsilon-Associated Protein 4
  • CD3E-Associated Protein 4
  • Antisense To ERCC 1 2

External Ids for POLR1G Gene

Previous HGNC Symbols for POLR1G Gene

  • CD3EAP

Summaries for POLR1G Gene

GeneCards Summary for POLR1G Gene

POLR1G (RNA Polymerase I Subunit G) is a Protein Coding gene. Diseases associated with POLR1G include Cerebrooculofacioskeletal Syndrome 4. Among its related pathways are RNA Polymerase I Promoter Escape and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3.

UniProtKB/Swiss-Prot Summary for POLR1G 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. Isoform 1 is involved in UBTF-activated transcription, presumably at a step following PIC formation.
  • Isoform 2 has been described as a component of preformed T-cell receptor (TCR) complex.

Gene Wiki entry for POLR1G Gene

Additional gene information for POLR1G Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLR1G Gene

Genomics for POLR1G Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLR1G Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLR1G on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLR1G

Genomic Locations for POLR1G Gene

Genomic Locations for POLR1G Gene
chr19:45,406,209-45,410,766
(GRCh38/hg38)
Size:
4,558 bases
Orientation:
Plus strand
chr19:45,909,467-45,914,024
(GRCh37/hg19)
Size:
4,558 bases
Orientation:
Plus strand

Genomic View for POLR1G Gene

Genes around POLR1G on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLR1G Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLR1G Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLR1G Gene

Proteins for POLR1G Gene

  • Protein details for POLR1G Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15446-RPA34_HUMAN
    Recommended name:
    DNA-directed RNA polymerase I subunit RPA34
    Protein Accession:
    O15446
    Secondary Accessions:
    • Q32N11
    • Q7Z5U2
    • Q9UPF6

    Protein attributes for POLR1G Gene

    Size:
    510 amino acids
    Molecular mass:
    54986 Da
    Quaternary structure:
    • Component of the RNA polymerase I (Pol I) complex consisting of at least 13 subunits. Interacts with TAF1A thereby associates with the SL1 complex. Interacts with UBTF. Interacts with POLR1E/PRAF1 through its N-terminal region (By similarity). Isoform 2 interacts with CD3E.
    Miscellaneous:
    • It is in an antisense orientation to and overlaps the gene of the DNA repair enzyme ERCC1. This gene overlap is conserved in mouse, suggesting an important biological function.
    • [Isoform 2]: Has sharply different functional characteristics.

    Alternative splice isoforms for POLR1G Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POLR1G Gene

Post-translational modifications for POLR1G Gene

  • Isoform 2 undergoes tyrosine phosphorylation upon T-cell receptor (TCR) stimulation. This phosphorylation has not been confirmed by other groups.
  • Isoform 1 is phosphorylated on tyrosine residues in initiation-competent Pol I-beta complexes but not in Pol I-alpha complexes.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POLR1G Gene

No data available for DME Specific Peptides for POLR1G Gene

Domains & Families for POLR1G Gene

Gene Families for POLR1G Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for POLR1G Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POLR1G Gene

GenScript: Design optimal peptide antigens:
  • CD3EAP protein (A0JLT1_HUMAN)
  • CD3EAP protein (Q05BI1_HUMAN)
  • RNA polymerase I-associated factor PAF49 (RPA34_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15446

UniProtKB/Swiss-Prot:

RPA34_HUMAN :
  • Belongs to the eukaryotic RPA34 RNA polymerase subunit family.
Family:
  • Belongs to the eukaryotic RPA34 RNA polymerase subunit family.
genes like me logo Genes that share domains with POLR1G: view

Function for POLR1G Gene

Molecular function for POLR1G 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. Isoform 1 is involved in UBTF-activated transcription, presumably at a step following PIC formation.
UniProtKB/Swiss-Prot Function:
Isoform 2 has been described as a component of preformed T-cell receptor (TCR) complex.

Phenotypes From GWAS Catalog for POLR1G Gene

Gene Ontology (GO) - Molecular Function for POLR1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003899 DNA-directed 5'-3' RNA polymerase activity IEA --
genes like me logo Genes that share ontologies with POLR1G: view
genes like me logo Genes that share phenotypes with POLR1G: view

Animal Models for POLR1G Gene

MGI Knock Outs for POLR1G:
  • Cd3eap Cd3eap<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR1G

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POLR1G Gene

Localization for POLR1G Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLR1G Gene

Nucleus, nucleolus. Chromosome. Note=Found at the fibrillar centers of the nucleolus in interphase and during cell division it is localized to the nucleolus organizer regions of the chromosomes.

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 POLR1G gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (4)
  • Nucleoplasm (4)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POLR1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000120 RNA polymerase I transcription factor complex TAS 9426281
GO:0001650 fibrillar center IDA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with POLR1G: view

Pathways & Interactions for POLR1G Gene

genes like me logo Genes that share pathways with POLR1G: view

Gene Ontology (GO) - Biological Process for POLR1G Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006360 transcription by RNA polymerase I IEA --
GO:0006361 transcription initiation from RNA polymerase I promoter TAS --
GO:0006362 transcription elongation from RNA polymerase I promoter IBA,TAS --
GO:0006363 termination of RNA polymerase I transcription TAS --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway TAS 10373416
genes like me logo Genes that share ontologies with POLR1G: view

No data available for SIGNOR curated interactions for POLR1G Gene

Drugs & Compounds for POLR1G Gene

(3) Drugs for POLR1G Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3412
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2451
Platinum compounds Pharma 0
genes like me logo Genes that share compounds with POLR1G: view

Transcripts for POLR1G Gene

mRNA/cDNA for POLR1G Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLR1G

Alternative Splicing Database (ASD) splice patterns (SP) for POLR1G Gene

No ASD Table

Relevant External Links for POLR1G Gene

GeneLoc Exon Structure for
POLR1G

Expression for POLR1G Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLR1G

SOURCE GeneReport for Unigene cluster for POLR1G Gene:

Hs.710495

Evidence on tissue expression from TISSUES for POLR1G Gene

  • Liver(4.3)
  • Skin(4.3)
No Expression Related Data Available

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 , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLR1G Gene

Orthologs for POLR1G Gene

This gene was present in the common ancestor of chordates.

Orthologs for POLR1G Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CD3EAP 30 31
  • 99.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CD3EAP 30 31
  • 79.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CD3EAP 30 31
  • 75.68 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cd3eap 30 17 31
  • 71.17 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cd3eap 30
  • 70.59 (n)
Oppossum
(Monodelphis domestica)
Mammalia CD3EAP 31
  • 36 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CD3EAP 31
  • 34 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii cd3eap 31
  • 27 (a)
OneToOne
Species where no ortholog for POLR1G was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • 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 Squirt (Ciona savignyi)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for POLR1G Gene

ENSEMBL:
Gene Tree for POLR1G (if available)
TreeFam:
Gene Tree for POLR1G (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POLR1G: view image

Paralogs for POLR1G Gene

No data available for Paralogs for POLR1G Gene

Variants for POLR1G Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLR1G Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs3212986 Drug Response: cisplatin response - Toxicity/ADR; Platinum compounds response - Toxicity/ADR; platinum response - Toxicity/ADR. -. - 45,409,478(+) C/Ap.Lys503Glnp.Gln504Lys MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
rs3212989 Conflicting Interpretations: Cerebrooculofacioskeletal syndrome 4; not provided. - 45,408,812(+) A/Gp.Thr282Ala MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT
rs2336219 - p.Asp394Asn
rs735482 - p.Lys259Thr
rs762562 - p.Lys373Glu

Additional dbSNP identifiers (rs#s) for POLR1G Gene

Structural Variations from Database of Genomic Variants (DGV) for POLR1G Gene

Variant ID Type Subtype PubMed ID
dgv1054e212 CNV gain 25503493
nsv428365 CNV gain+loss 18775914
nsv458711 CNV gain 19166990
nsv579867 CNV gain 21841781
nsv833845 CNV loss 17160897
nsv833846 CNV loss 17160897

Variation tolerance for POLR1G Gene

Residual Variation Intolerance Score: 85.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.84; 91.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLR1G Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLR1G

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLR1G Gene

Disorders for POLR1G Gene

MalaCards: The human disease database

(1) MalaCards diseases for POLR1G Gene - From: GeneCards

Disorder Aliases PubMed IDs
cerebrooculofacioskeletal syndrome 4
  • cofs syndrome
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with POLR1G: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POLR1G Gene

Publications for POLR1G Gene

  1. Multiple protein-protein interactions by RNA polymerase I-associated factor PAF49 and role of PAF49 in rRNA transcription. (PMID: 15226435) Yamamoto K … Muramatsu M (Molecular and cellular biology 2004) 2 3 23
  2. CAST, a novel CD3epsilon-binding protein transducing activation signal for interleukin-2 production in T cells. (PMID: 10373416) Yamazaki T … Saito T (The Journal of biological chemistry 1999) 2 3 4
  3. ASE-1: a novel protein of the fibrillar centres of the nucleolus and nucleolus organizer region of mitotic chromosomes. (PMID: 9426281) Whitehead CM … Rattner JB (Chromosoma 1997) 2 3 4
  4. Basic mechanisms in RNA polymerase I transcription of the ribosomal RNA genes. (PMID: 23150253) Goodfellow SJ … Zomerdijk JC (Sub-cellular biochemistry 2013) 2 3
  5. Association of a single nucleotide polymorphic variation in the human chromosome 19q13.3 with drug responses in the NCI60 cell lines. (PMID: 19396015) Nissen KK … Nexø BA (Anti-cancer drugs 2009) 3 23

Products for POLR1G Gene

Sources for POLR1G Gene