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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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