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PABPN1 poly(A) binding protein nuclear 1 [ Homo sapiens (human) ]

Gene ID: 8106, updated on 27-Nov-2024

Summary

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Official Symbol
PABPN1provided by HGNC
Official Full Name
poly(A) binding protein nuclear 1provided by HGNC
Primary source
HGNC:HGNC:8565
See related
Ensembl:ENSG00000100836 MIM:602279; AllianceGenome:HGNC:8565
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
Also known as
OPMD; PAB2; PABII; PABP2; PABP-2
Summary
This gene encodes an abundant nuclear protein that binds with high affinity to nascent poly(A) tails. The protein is required for progressive and efficient polymerization of poly(A) tails at the 3' ends of eukaryotic transcripts and controls the size of the poly(A) tail to about 250 nt. At steady-state, this protein is localized in the nucleus whereas a different poly(A) binding protein is localized in the cytoplasm. This gene contains a GCG trinucleotide repeat at the 5' end of the coding region, and expansion of this repeat from the normal 6 copies to 8-13 copies leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Related pseudogenes have been identified on chromosomes 19 and X. Read-through transcription also exists between this gene and the neighboring upstream BCL2-like 2 (BCL2L2) gene. [provided by RefSeq, Dec 2010]
Expression
Ubiquitous expression in testis (RPKM 38.5), spleen (RPKM 30.3) and 25 other tissues See more
Orthologs
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Genomic context

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See PABPN1 in Genome Data Viewer
Location:
14q11.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23321457..23326163)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17522473..17527178)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23790666..23795372)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 3E Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8169 Neighboring gene H3 histone pseudogene 37 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5604 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5605 Neighboring gene BCL2L2-PABPN1 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23776901-23777734 Neighboring gene BCL2 like 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23789757-23790407 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23790419-23791230 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23791231-23792040 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5608 Neighboring gene solute carrier family 22 member 17 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23832478-23832978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23832979-23833479 Neighboring gene embryonal Fyn-associated substrate

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. Polyadenylation-dependent control of long noncoding RNA expression by the poly(A)-binding protein nuclear 1. Beaulieu YB, et al. PLoS Genet, 2012. PMID 23166521, Free PMC Article
  2. Study of a Taiwanese family with oculopharyngeal muscular dystrophy. Kuo HC, et al. J Neurol Sci, 2009 Mar 15. PMID 19101703
  3. Structural basis for a PABPN1 aggregation-preventing antibody fragment in OPMD. Impagliazzo A, et al. FEBS Lett, 2010 Apr 16. PMID 20226184
  4. Oculopharyngeal Muscular Dystrophy. Adam MP, et al. , 1993. PMID 20301305
  5. Gene diagnosis of oculopharyngeal muscular dystrophy in a Chinese family by a GeneScan method. You P, et al. J Clin Lab Anal, 2010. PMID 21089175, Free PMC Article

See all (217) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Phosphorylation of the nuclear poly(A) binding protein (PABPN1) during mitosis protects mRNA from hyperadenylation and maintains transcriptome dynamics.
    Title: Phosphorylation of the nuclear poly(A) binding protein (PABPN1) during mitosis protects mRNA from hyperadenylation and maintains transcriptome dynamics.
  2. Dysregulation of RNA-Exosome machinery is directly linked to major cancer hallmarks in prostate cancer: Oncogenic role of PABPN1.
    Title: Dysregulation of RNA-Exosome machinery is directly linked to major cancer hallmarks in prostate cancer: Oncogenic role of PABPN1.
  3. PABPN1 aggregation is driven by Ala expansion and poly(A)-RNA binding, leading to CFIm25 sequestration that impairs alternative polyadenylation.
    Title: PABPN1 aggregation is driven by Ala expansion and poly(A)-RNA binding, leading to CFIm25 sequestration that impairs alternative polyadenylation.
  4. The RNA-binding protein ZC3H11A interacts with the nuclear poly(A)-binding protein PABPN1 and alters polyadenylation of viral transcripts.
    Title: The RNA-binding protein ZC3H11A interacts with the nuclear poly(A)-binding protein PABPN1 and alters polyadenylation of viral transcripts.
  5. PABPN1 prevents the nuclear export of an unspliced RNA with a constitutive transport element and controls human gene expression via intron retention.
    Title: PABPN1 prevents the nuclear export of an unspliced RNA with a constitutive transport element and controls human gene expression via intron retention.
  6. Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
    Title: Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
  7. Novel read-through fusion transcript Bcl2l2-Pabpn1 in glioblastoma cells.
    Title: Novel read-through fusion transcript Bcl2l2-Pabpn1 in glioblastoma cells.
  8. Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy.
    Title: Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy.
  9. Regulation of Kv11.1 Isoform Expression by Polyadenylate Binding Protein Nuclear 1.
    Title: Regulation of Kv11.1 Isoform Expression by Polyadenylate Binding Protein Nuclear 1.
  10. PABPN1, a Target of p63, Modulates Keratinocyte Differentiation through Regulation of p63alpha mRNA Translation.
    Title: PABPN1, a Target of p63, Modulates Keratinocyte Differentiation through Regulation of p63α mRNA Translation.
Submit: New GeneRIF Correction See all GeneRIFs (71)

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

Associated conditions

Description Tests
Oculopharyngeal muscular dystrophy 1
MedGen: CN376802 OMIM: 164300 GeneReviews: Oculopharyngeal Muscular Dystrophy
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify poly(A) binding protein nuclear 1 (PABPN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify poly(A) binding protein nuclear 1 (PABPN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Nef nef Tandem affinity purification and mass spectrometry analysis identify poly(A) binding protein nuclear 1 (PABPN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify poly(A) binding protein nuclear 1 (PABPN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

Go to the HIV-1, Human Interaction Database

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA polymerase binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables poly(A) binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in RNA processing TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to lipopolysaccharide ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in muscle contraction TAS
Traceable Author Statement
more info
 PubMed 
involved_in poly(A)+ mRNA export from nucleus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of polynucleotide adenylyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear inclusion body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nuclear speck IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
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 
part_of ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
polyadenylate-binding protein 2
Names
poly(A) binding protein 2
poly(A) binding protein II

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.

Genomic

  1. NG_008239.1 RefSeqGene

    Range
    6270..10976
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001360551.3 → NP_001347480.1  polyadenylate-binding protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL049829, BG496896, BM979311, BX247976
    Consensus CDS
    CCDS86374.1
    Related
    ENSP00000380446.2, ENST00000397276.6
    Conserved Domains (2) summary
    COG0724
    Location:113 → 289
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12550
    Location:173 → 248
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

  2. NM_001360552.2 → NP_001347481.1  polyadenylate-binding protein 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL049829
    Consensus CDS
    CCDS86375.1
    UniProtKB/TrEMBL
    G3V4T2
    Related
    ENSP00000451970.1, ENST00000556821.5
    Conserved Domains (1) summary
    cd12550
    Location:45 → 120
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

  3. NM_004643.4 → NP_004634.1  polyadenylate-binding protein 2 isoform 1

    See identical proteins and their annotated locations for NP_004634.1

    Status: REVIEWED

    Source sequence(s)
    AL049829
    Consensus CDS
    CCDS9592.1
    UniProtKB/Swiss-Prot
    D3DS49, O43484, Q86U42
    Related
    ENSP00000216727.4, ENST00000216727.9
    Conserved Domains (2) summary
    COG0724
    Location:113 → 289
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12550
    Location:173 → 248
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    23321457..23326163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    17522473..17527178
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86U42.3 GenPept UniProtKB/Swiss-Prot:Q86U42

Gene LinkOut

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