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POLR1G RNA polymerase I subunit G [ Homo sapiens (human) ]

Gene ID: 10849, updated on 11-Apr-2024

Summary

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Official Symbol
POLR1Gprovided by HGNC
Official Full Name
RNA polymerase I subunit Gprovided by HGNC
Primary source
HGNC:HGNC:24219
See related
Ensembl:ENSG00000117877 MIM:107325; AllianceGenome:HGNC:24219
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
ASE1; CAST; ASE-1; PAF49; RPA34; CD3EAP
Summary
Enables RNA binding activity. Predicted to be involved in transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to act upstream of or within rRNA transcription. Located in cytosol; mitochondrion; and nuclear lumen. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in skin (RPKM 8.1), ovary (RPKM 5.0) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
19q13.32
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45406644..45410737)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48233891..48237984)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45909902..45913995)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene kinesin light chain 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:45860553-45860719 Neighboring gene ERCC excision repair 2, TFIIH core complex helicase subunit Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45872585-45873426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14791 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45878599-45879436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45879437-45880275 Neighboring gene protein phosphatase 1 regulatory subunit 13 like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45894822-45895340 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45895341-45895857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45901839-45902837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10762 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10763 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45908213-45909008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14794 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45923066-45923566 Neighboring gene ERCC excision repair 1, endonuclease non-catalytic subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14796 Neighboring gene Sharpr-MPRA regulatory region 13779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10764 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10765 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:45943151-45943650 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10768 Neighboring gene microRNA 6088 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10769 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45958106-45959072 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45959073-45960039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45967946-45968446 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:45968447-45968947 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:45971355-45972256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14799 Neighboring gene FosB proto-oncogene, AP-1 transcription factor subunit

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. A common genetic variant in 19q13·3 is associated with outcome of multiple myeloma patients treated with Total Therapy 2 and 3. Erickson SW, et al. Br J Haematol, 2016 Sep. PMID 26568154
  2. Association of a single nucleotide polymorphic variation in the human chromosome 19q13.3 with drug responses in the NCI60 cell lines. Nissen KK, et al. Anticancer Drugs, 2009 Mar. PMID 19396015
  3. STAT3 potentiates RNA polymerase I-directed transcription and tumor growth by activating RPA34 expression. Zhang C, et al. Br J Cancer, 2023 Mar. PMID 36526675, Free PMC Article
  4. Effects of PPP1R13L and CD3EAP variants on lung cancer susceptibility among nonsmoking Chinese women. Yin J, et al. Gene, 2013 Jul 25. PMID 23624123
  5. A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cancer risk in a Chinese population. Yin J, et al. Lung Cancer, 2012 Jun. PMID 22335888

See all (78) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PAF49: An RNA Polymerase I subunit essential for rDNA transcription and stabilization of PAF53.
    Title: PAF49: An RNA Polymerase I subunit essential for rDNA transcription and stabilization of PAF53.
  2. Common variants of pro-inflammatory gene IL1B and interactions with PPP1R13L and POLR1G in relation to lung cancer among Northeast Chinese.
    Title: Common variants of pro-inflammatory gene IL1B and interactions with PPP1R13L and POLR1G in relation to lung cancer among Northeast Chinese.
  3. STAT3 potentiates RNA polymerase I-directed transcription and tumor growth by activating RPA34 expression.
    Title: STAT3 potentiates RNA polymerase I-directed transcription and tumor growth by activating RPA34 expression.
  4. TP53 common variants and interaction with PPP1R13L and CD3EAP SNPs and lung cancer risk and smoking behavior in a Chinese population.
    Title: TP53 common variants and interaction with PPP1R13L and CD3EAP SNPs and lung cancer risk and smoking behavior in a Chinese population.
  5. Haplotypes consisting of PPP1R13L, CD3EAP and GLTSCR1 SNPs on Chr19q13.3 may associate with lung cancer risk in the Chinese population.
    Title: GLTSCR1, ATM, PPP1R13L and CD3EAP Genetic Variants and Lung Cancer Risk in a Chinese Population.
  6. The expression of CD3EAP exon 1 was demonstrated to be significantly associated with PPP1R13L exon 1, while CD3EAP exon 3 was significantly associated with ERCC1 exon 11 in normal and non-small cell lung cancer (NSCLC) tissues. It was observed that short transcripts of ERCC1, CD3EAP and PPP1R13L are co-expressed in A549 NSCLC cell line.
    Title: Different splicing isoforms of ERCC1 affect the expression of its overlapping genes CD3EAP and PPP1R13L, and indicate a potential application in non-small cell lung cancer treatment.
  7. a genetic variant in the CD3EAP gene is associated with outcome of patients treated for multiple myeloma
    Title: A common genetic variant in 19q13·3 is associated with outcome of multiple myeloma patients treated with Total Therapy 2 and 3.
  8. These findings demonstrate that 19p13.3-GADD45B rs7354 variant and interaction between 19p13.3-GADD45B rs3783501 and 19q13.3-CD3EAP rs967591 may play a role in association with smoke-exposed lung cancer among Chinese.
    Title: 19p13.3-GADD45B common variants and 19q13.3-PPP1R13L and 19q13.3-CD3EAP in lung cancer risk among Chinese.
  9. we were able to reproduce previously found associations between PPP1R13L and CD3EAP polymorphisms and lung cancer risk in an increased study group, and we found interactions between NFKB1 rs28362491-PPP1R13L rs1970764 and smoking duration and between CD3EAP rs735482 and smoking duration
    Title: Association and interaction of NFKB1 rs28362491 insertion/deletion ATTG polymorphism and PPP1R13L and CD3EAP related to lung cancer risk in a Chinese population.
  10. There was no interaction between NFKB1 polymorphisms and PPP1R13L and CD3EAP and smoking status in relation to lung cancer risk
    Title: NFKB1 common variants and PPP1R13L and CD3EAP in relation to lung cancer risk in a Chinese population.
Submit: New GeneRIF Correction See all GeneRIFs (22)

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

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

Clone Names

  • MGC118851

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell surface receptor protein tyrosine kinase signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in rRNA transcription TAS
Traceable Author Statement
more info
 PubMed 
involved_in transcription initiation at RNA polymerase I promoter IDA
Inferred from Direct Assay
more info
 PubMed 
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 
part_of RNA polymerase I transcription regulator complex TAS
Traceable Author Statement
more info
 PubMed 
located_in chromosome IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nucleolus TAS
Traceable Author Statement
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
DNA-directed RNA polymerase I subunit RPA34
Names
CD3e antigen, epsilon polypeptide associated protein
CD3e molecule associated protein
CD3e molecule, epsilon associated protein
DNA-directed RNA polymerase I subunit G
RNA polymerase I-associated factor PAF49
antisense to ERCC-1 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_001297590.3 → NP_001284519.1  DNA-directed RNA polymerase I subunit RPA34 isoform 1

    See identical proteins and their annotated locations for NP_001284519.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AF017633, BU166593, U86751
    Consensus CDS
    CCDS74397.1
    UniProtKB/TrEMBL
    A8K818
    Related
    ENSP00000465099.1, ENST00000589804.1
    Conserved Domains (1) summary
    pfam08208
    Location:40 → 180
    RNA_polI_A34; DNA-directed RNA polymerase I subunit RPA34.5

  2. NM_012099.3 → NP_036231.1  DNA-directed RNA polymerase I subunit RPA34 isoform 2

    See identical proteins and their annotated locations for NP_036231.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
    Source sequence(s)
    U86751
    Consensus CDS
    CCDS12661.1
    UniProtKB/Swiss-Prot
    O15446, Q32N11, Q7Z5U2, Q9UPF6
    UniProtKB/TrEMBL
    A8K818
    Related
    ENSP00000310966.3, ENST00000309424.8
    Conserved Domains (1) summary
    pfam08208
    Location:38 → 178
    RNA_polI_A34; DNA-directed RNA polymerase I subunit RPA34.5

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    45406644..45410737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    48233891..48237984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O15446.1 GenPept UniProtKB/Swiss-Prot:O15446

Gene LinkOut

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

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