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

Gene ID: 64895, updated on 2-May-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
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Genomic context

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Location:
2p16.1
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (60756268..60802086)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (60762056..60807916)
105.20220307 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

Bibliography

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Related articles in PubMed

  1. 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
  2. A novel nuclear human poly(A) polymerase (PAP), PAP gamma. Kyriakopoulou CB, et al. J Biol Chem, 2001 Sep 7. PMID 11431479
  3. 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
  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. 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

See all (29) 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_2023_10

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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