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    PAPOLG poly(A) polymerase gamma [ Homo sapiens (human) ]

    Gene ID: 64895, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PAPOLGprovided by HGNC
    Official Full Name
    poly(A) polymerase gammaprovided by HGNC
    Primary source
    HGNC:HGNC:14982
    See related
    Ensembl:ENSG00000115421 MIM:616865; AllianceGenome:HGNC:14982
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3' end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 5.8), testis (RPKM 3.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PAPOLG in Genome Data Viewer
    Location:
    2p16.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (60756268..60802086)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (60762056..60807916)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (60983403..61029221)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 612, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr2:60963065-60963263 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:60969297-60970260 Neighboring gene ATPase Na+/K+ transporting subunit beta 3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:60986263-60986762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11520 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:61058180-61058409 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15821 Neighboring gene RNA, 7SL, cytoplasmic 632, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15823 Neighboring gene REL divergent transcript Neighboring gene ribosomal protein L21 pseudogene 33

    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 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 novel nuclear human poly(A) polymerase (PAP), PAP gamma. Kyriakopoulou CB, et al. J Biol Chem, 2001 Sep 7. PMID 11431479
    2. A single mutation in human mitochondrial DNA polymerase Pol gammaA affects both polymerization and proofreading activities of only the holoenzyme. Lee YS, et al. J Biol Chem, 2010 Sep 3. PMID 20513922, Free PMC Article
    3. Purification, characterization, and cloning of the cDNA of human signal recognition particle RNA 3'-adenylating enzyme. Perumal K, et al. J Biol Chem, 2001 Jun 15. PMID 11287430
    4. Identification and functional characterization of neo-poly(A) polymerase, an RNA processing enzyme overexpressed in human tumors. Topalian SL, et al. Mol Cell Biol, 2001 Aug. PMID 11463842, Free PMC Article
    5. Crystal structure of human poly(A) polymerase gamma reveals a conserved catalytic core for canonical poly(A) polymerases. Yang Q, et al. J Mol Biol, 2014 Jan 9. PMID 24076191, Free PMC Article

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PAPgamma associates with PAXT nuclear exosome to control the abundance of PROMPT ncRNAs.
      Title: PAPγ associates with PAXT nuclear exosome to control the abundance of PROMPT ncRNAs.
    2. An analysis of residue conservation reveals a conserved catalytic binding pocket, whereas residues at the surface of the polymerase are more divergent.
      Title: Crystal structure of human poly(A) polymerase gamma reveals a conserved catalytic core for canonical poly(A) polymerases.
    3. PAP gamma structurally closely resembles its PAP alpha ortholog. It possesses a conserved catalytic binding pocket, whereas residues at the surface of the polymerase are more divergent.
      Title: Crystal structure of human poly(A) polymerase gamma reveals a conserved catalytic core for canonical poly(A) polymerases.
    4. Arg(232) substitutions have no effect on independent Pol gammaA activities but show major defects in the Pol gammaA-Pol gammaB holoenzyme.
      Title: A single mutation in human mitochondrial DNA polymerase Pol gammaA affects both polymerization and proofreading activities of only the holoenzyme.
    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
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat The poly(A) site in the HIV-1 5'-LTR is occluded in a Tat-dependent manner, suggesting a role for Tat in regulating this nucleotide signal PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11805, FLJ12972, FLJ13482, FLJ14187, MGC133307, MGC133308

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables poly(A) RNA polymerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables poly(A) RNA polymerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA 3'-end processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    poly(A) polymerase gamma
    Names
    PAP-gamma
    SRP RNA 3' adenylating enzyme/pap2
    SRP RNA 3'-adenylating enzyme
    SRP RNA-adenylating enzyme
    neo-PAP
    neo-poly(A) polymerase
    nuclear poly(A) polymerase gamma
    polynucleotide adenylyltransferase gamma
    signal recognition particle RNA-adenylating enzyme
    NP_075045.2
    XP_005264557.1
    XP_005264558.1
    XP_054199399.1
    XP_054199400.1

    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_022894.4 → NP_075045.2  poly(A) polymerase gamma

      See identical proteins and their annotated locations for NP_075045.2

      Status: REVIEWED

      Source sequence(s)
      AB209304, AC011245, AI419423, BC111701, DB082179
      Consensus CDS
      CCDS1863.1
      UniProtKB/Swiss-Prot
      B2RBH4, Q59G05, Q969N1, Q9BWT3, Q9H8L2, Q9HAD0
      Related
      ENSP00000238714.3, ENST00000238714.8
      Conserved Domains (2) summary
      pfam04926
      Location:365 → 503
      PAP_RNA-bind; Poly(A) polymerase predicted RNA binding domain
      pfam04928
      Location:20 → 363
      PAP_central; Poly(A) polymerase central domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      60756268..60802086
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005264500.5 → XP_005264557.1  poly(A) polymerase gamma isoform X1

      See identical proteins and their annotated locations for XP_005264557.1

      UniProtKB/Swiss-Prot
      Q9BWT3
      Conserved Domains (3) summary
      pfam05109
      Location:545 → 675
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam04926
      Location:365 → 503
      PAP_RNA-bind; Poly(A) polymerase predicted RNA binding domain
      pfam04928
      Location:20 → 363
      PAP_central; Poly(A) polymerase central domain

    2. XM_005264501.3 → XP_005264558.1  poly(A) polymerase gamma isoform X2

      See identical proteins and their annotated locations for XP_005264558.1

      Conserved Domains (2) summary
      pfam04926
      Location:321 → 460
      PAP_RNA-bind; Poly(A) polymerase predicted RNA binding domain
      pfam04928
      Location:1 → 319
      PAP_central; Poly(A) polymerase central domain

    RNA

    1. XR_007080681.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      60762056..60807916
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343425.1 → XP_054199400.1  poly(A) polymerase gamma isoform X2

    2. XM_054343424.1 → XP_054199399.1  poly(A) polymerase gamma isoform X1

    RNA

    1. XR_008486493.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BWT3.2 GenPept UniProtKB/Swiss-Prot:Q9BWT3

    Gene LinkOut

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