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

    Gene ID: 8106, updated on 28-Oct-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
    mouse all
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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 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. Polyalanine-independent conformational conversion of nuclear poly(A)-binding protein 1 (PABPN1). Winter R, et al. J Biol Chem, 2012 Jun 29. PMID 22570486, Free PMC Article
    2. [The clinical-genealogic and molecular-genetic characteristics of oculopharyngeal muscular dystrophy in the Republic of Sakha (Yakutia)]. Maksimova NR, et al. Zh Nevrol Psikhiatr Im S S Korsakova, 2008. PMID 18577936
    3. Study of a Taiwanese family with oculopharyngeal muscular dystrophy. Kuo HC, et al. J Neurol Sci, 2009 Mar 15. PMID 19101703
    4. Structural basis for a PABPN1 aggregation-preventing antibody fragment in OPMD. Impagliazzo A, et al. FEBS Lett, 2010 Apr 16. PMID 20226184
    5. Oculopharyngeal Muscular Dystrophy. Adam MP, et al. , 1993. PMID 20301305

    See all (213) 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)

    Genotypes

    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

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

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