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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PABPN1 Gene

protein-coding   GIFtS: 66
GCID: GC14P023789

Poly(A) Binding Protein, Nuclear 1

(Previous names: poly(A)-binding protein, nuclear 1)
(Previous symbols: OPMD, PABP2)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Poly(A) Binding Protein, Nuclear 11 2     Poly(A) Binding Protein 22
PABP21 2 3 5     Poly(A) Binding Protein II2
PAB22 3 5     Polyadenylate-Binding Protein 22
OPMD1 2     Nuclear Poly(A)-Binding Protein 13
PABII2 3     Poly(A)-Binding Protein 23
PABP-22 3     Poly(A)-Binding Protein II3
Poly(A)-Binding Protein, Nuclear 11     Polyadenylate-Binding Nuclear Protein 13

External Ids:    HGNC: 85651   Entrez Gene: 81062   Ensembl: ENSG000001008367   OMIM: 6022795   UniProtKB: Q86U423   

Export aliases for PABPN1 gene to outside databases

Previous GC identifers: GC14U990066 GC14P017576 GC14P021779 GC14P022859 GC14P003905


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PABPN1 Gene:
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)

GeneCards Summary for PABPN1 Gene: 
PABPN1 (poly(A) binding protein, nuclear 1) is a protein-coding gene. Diseases associated with PABPN1 include oculopharyngeal muscular dystrophy, and oculopharyngodistal myopathy, and among its related super-pathways are mRNA Processing and Post-Elongation Processing of Intron-Containing pre-mRNA. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is BCL2L2-PABPN1.

UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42
Function: Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of
200-250 nt to the upstream cleavage product. Stimulates poly(A) polymerase (PAPOLA) conferring processivity on
the poly(A) tail elongation reaction and controls also the poly(A) tail length. Increases the affinity of poly(A)
polymerase for RNA. Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking
and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated
transcription through MYOD1 and may regulate the expression of muscle-specific genes. Binds to poly(A) and to
poly(G) with high affinity. May protect the poly(A) tail from degradation (By similarity)

Gene Wiki entry for PABPN1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PABPN1 gene promoter:
         E2F-3a   STAT1   E2F   E2F-1   Sp1   MyoD   E2F-2   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PABPN1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PABPN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PABPN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

PABPN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PABPN1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P023789:  view genomic region     (about GC identifiers)

Start:
23,789,397 bp from pter      End:
23,795,394 bp from pter
Size:
5,998 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42 (See protein sequence)
Recommended Name: Polyadenylate-binding protein 2  
Size: 306 amino acids; 32749 Da
Subunit: Monomer and homooligomer. Binds RNA as a monomer and oligomerizes when bound to poly(A). Interacts with
PAPOLA, but only in presence of oligo(A) RNA. Interacts with transportin (By similarity). Identified in a mRNP
granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL,
HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X,
RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Association in a ternary complex with CPSF4 and
influenza A virus NS1 blocks pre-mRNAs processing, thereby preventing nuclear export of host cell mRNAs.
Associates in a single complex with SKIP and MYOD1 and interacts with SKIP in differentiated myocytes. Interacts
with NUDT21/CPSF5
Subcellular location: Nucleus (By similarity). Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing
untranslated mRNAs. Shuttles between the nucleus and the cytoplasm but predominantly found in the nucleus. Its
nuclear import may involve the nucleocytoplasmic transport receptor transportin and a RAN-GTP-sensitive import
mechanism. Is exported to the cytoplasm by a carrier-mediated pathway that is independent of mRNA traffic.
Nucleus; nuclear speckle. Colocalizes with SKIP and poly(A) RNA in nuclear speckles (By similarity)
Miscellaneous: Intranuclear filamentous inclusions or "aggregates" are detected in the myocytes of patients; these
inclusions contain PABPN1, ubiquitin, subunits of the proteasome and poly(A) RNA. The association of the expanded
polyalanine mutations together with the capability to oligomerize may induce these inclusions and cell death.
Expanded polyalanine mutations may either result from unequal crossing over during germ cell homologous
recombination or from DNA slippage. The pathogenic mechanisms mediated by polyalanine expansion mutations may be
either a general disruption of cellular RNA metabolism due to the trapping by the inclusions of PABPN1, mRNAs
and/or nuclear proteins, resulting in the induction of cell death; or may change the normal muscle cell
differentiation
Sequence caution: Sequence=CAD62310.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for PABPN1:
3B4D (3D)        3B4M (3D)        3UCG (3D)    
Secondary accessions: D3DS49 O43484
Alternative splicing: 3 isoforms:  Q86U42-1   Q86U42-2   Q92843-2   (Based on a readthrough transcript which may produce a BCL2L2-PABPN1 fusion protein. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PABPN1: NX_Q86U42

Explore proteomics data for PABPN1 at MOPED 

Post-translational modifications:

  • UniProtKB: Arginine dimethylation is asymmetric and involves PRMT1 and PRMT3. It does not influence the RNA binding
    properties (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86U42

  • PABPN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PABPN1 Protein Expression
    REFSEQ proteins: NP_004634.1  
    ENSEMBL proteins: 
     ENSP00000216727   ENSP00000380446   ENSP00000451970   ENSP00000450724   ENSP00000451592  
    Reactome Protein details: Q86U42
    Human Recombinant Protein Products for PABPN1: 
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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0030529ribonucleoprotein complex IDA17289661

    PABPN1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RBM: RNA binding motif (RRM) containing

    2 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q86U42

    ProtoNet protein and cluster: Q86U42

    UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42
    Domain: The RRM domain is essential for specific adenine bases recognition in the poly(A) tail but not sufficient
    for poly(A) binding (By similarity)
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    PABPN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PABP2_HUMAN, Q86U42
    Function: Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a poly(A) tail of
    200-250 nt to the upstream cleavage product. Stimulates poly(A) polymerase (PAPOLA) conferring processivity on
    the poly(A) tail elongation reaction and controls also the poly(A) tail length. Increases the affinity of poly(A)
    polymerase for RNA. Is also present at various stages of mRNA metabolism including nucleocytoplasmic trafficking
    and nonsense-mediated decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated
    transcription through MYOD1 and may regulate the expression of muscle-specific genes. Binds to poly(A) and to
    poly(G) with high affinity. May protect the poly(A) tail from degradation (By similarity)

         Genatlas biochemistry entry for PABPN1:
    poly (A) binding protein,nuclear 1,with a 5' polymorphic,unstable GCG (alanine) repeat,amplified in
    oculopharyngeal muscular dystrophy (OPMD)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI11371506
         
    PABPN1 for ontologies           About GeneDecksing


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    SwitchGear 3'UTR luciferase reporter plasmidPABPN1 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PABPN1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Processing of Capped Intron-Containing Pre-mRNA0.85
    mRNA Splicing0.82
    mRNA Processing0.85
    mRNA processing0.46
    mRNA Splicing - Major Pathway0.82
    2RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.79
    Post-Elongation Processing of the Transcript0.79
    Post-Elongation Processing of Intron-Containing pre-mRNA0.79
    mRNA 3'-end processing0.79
    Cleavage of Growing Transcript in the Termination Region 0.79
    3Post-Elongation Processing of Intronless pre-mRNA
    Post-Elongation Processing of Intronless pre-mRNA0.61
    Processing of Capped Intronless Pre-mRNA0.61
    Processing of Intronless Pre-mRNAs0.61
    4 NS1 Mediated Effects on Host Pathways
    NS1 Mediated Effects on Host Pathways0.67
    Host Interactions with Influenza Factors0.60
    Inhibition of Host mRNA Processing and RNA Silencing0.67
    5Transcription
    Transcription0.69
    RNA Polymerase II Transcription0.69

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PABPN1
        mRNA processing

    5/20        Reactome Pathways for PABPN1 (see all 20)
        mRNA Splicing
    RNA Polymerase II Transcription
    Inhibition of Host mRNA Processing and RNA Silencing
    Cleavage of Growing Transcript in the Termination Region
    Disease


    2         Kegg Pathways  (Kegg details for PABPN1):
        mRNA surveillance pathway
    Influenza A


    PABPN1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PABPN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/661 Interacting proteins for PABPN1 (Q86U421, 2, 3 ENSP000002167274) via UniProtKB, MINT, STRING, and/or I2D (see all 661)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SNW1Q135731, 2, 3, ENSP000002615314EBI-1226435,EBI-632715 MINT-7945693 I2D: score=2 STRING: ENSP00000261531
    YWHAZP631042, 3MINT-3297301 I2D: score=1 
    HNRNPA1P096512, 3, ENSP000003418264MINT-7945693 I2D: score=1 STRING: ENSP00000341826
    TARDBPQ131482, 3, ENSP000002401854MINT-7945693 I2D: score=1 STRING: ENSP00000240185
    CPSF1Q105702, ENSP000003393534MINT-7945693 MINT-8286464 STRING: ENSP00000339353
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--
    GO:0006396RNA processing TAS9462747
    GO:0006936muscle contraction TAS9462747

    PABPN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PABPN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PABPN1 (PABP2)

    1 HMDB Compound for PABPN1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--

    5 Novoseek inferred chemical compound relationships for PABPN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alanine 74.1 77 18367172 (4), 16642034 (3), 11689481 (3), 19641605 (3) (see all 40)
    adenylate 71.2 49 10825302 (6), 16198293 (4), 15755682 (2), 11371506 (2) (see all 25)
    glutamine 39.2 1 11001936 (1)
    arginine 2.34 4 19641605 (1), 11003790 (1), 15473865 (1)
    creatinine 0.0361 1 16378590 (1)

    Search CenterWatch for drugs/clinical trials and news about PABPN1 / PABP2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PABPN1 gene: 
    NM_004643.3  

    Unigene Cluster for PABPN1:

    Poly(A) binding protein, nuclear 1
    Hs.707712  [show with all ESTs]
    Unigene Representative Sequence: NM_004643
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216727(uc001wjh.4 uc001wjk.3) ENST00000397276(uc001wjj.3)
    ENST00000556821 ENST00000556809 ENST00000557702 ENST00000554062 ENST00000553960
    ENST00000555295
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    Additional mRNA sequence: 

    AK293633.1 BC010939.1 BX247976.1 

    24/33 DOTS entries (see all 33):

    DT.75124939  DT.95094632  DT.95226292  DT.100753318  DT.454383  DT.100840184  DT.100819143  DT.100806817 
    DT.99949443  DT.95159574  DT.100803510  DT.100653661  DT.92458982  DT.100819148  DT.100677081  DT.100819152 
    DT.95094628  DT.99983403  DT.100819153  DT.121285790  DT.100819146  DT.100819147  DT.91827209  DT.91832503 

    24/631 AceView cDNA sequences (see all 631):

    BU736669 BM718927 CA430348 BX247976 BQ925876 BU682740 BM128122 AA098908 
    BU677236 BM825354 BM693022 BG479049 BE300750 CA407805 AI279367 AA741032 
    BQ001111 BX509434 AW080354 AI637772 BM683167 AI369908 BQ069689 BU628303 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for PABPN1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b
    SP1:                                -               
    SP2:                                                


    ECgene alternative splicing isoforms for PABPN1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PABPN1 expression in normal human tissues (normalized intensities)      PABPN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTATTCCCCT
    PABPN1 Expression
    About this image


    PABPN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             brain/midbrain   
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord

    See PABPN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PABPN1

    SOURCE GeneReport for Unigene cluster: Hs.707712

    UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42
    Tissue specificity: Ubiquitous

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PABPN1 gene from 9/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pabpn11 , 5 poly(A) binding protein, nuclear 11, 5 94.59(n)1
    98.01(a)1
      14 (27.98 cM)5
    541961  NM_019402.21  NP_062275.11 
     548925005 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    68(a)
    1 → many
    GL343680.1(251270-259901)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC045063.12   -- 79.36(n)    BC045063.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CA475419.12   -- 80.34(n)    CA475419.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pabp21 , 3 mRNA polyadenylation RNA binding3
    CG2163-PA1
    72(a)3
    61.86(n)1
    61.69(a)1
      357881  NM_057554.31  NP_476902.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C17E4.53
    pabp-21
    RNA binding protein (RNP like)3
    Protein PABP-21
    60(a)3
    56.76(n)1
    56.22(a)1
      I(9429044-9430219)3
    1727681  NM_060103.31  NP_492504.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SGN16
    Cytoplasmic RNA-binding protein, contains an RNA r...
    20(a)
    1 → many
    IX(356143-356895)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PABN11 polyadenylate-binding protein 1 55.16(n)
    51.79(a)
      835186  NM_124491.2  NP_568751.1 
    corn
    (Zea mays)
    Liliopsida Zm.9282 Zea mays CL6587_1 mRNA sequence 69.87(n)    AY109465.1 


    ENSEMBL Gene Tree for PABPN1 (if available)
    TreeFam Gene Tree for PABPN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PABPN1 gene
    BCL2L2-PABPN12  PABPN1L2  
    3 SIMAP similar genes for PABPN1 using alignment to 4 protein entries:     PABP2_HUMAN (see all proteins):
    PABPN1L    SRSF2    SLIRP

    PABPN1 for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for PABPN1
    PGOHUM00000261887 PGOHUM00000261944 PGOHUM00000261947


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42
    Polymorphism: The poly-Ala region of PABPN1 is polymorphic (6-7 repeats) in the population and is expanded to 8-13
    repeats in OPMD patients. Compound heterozygotes for (GCG)9 mutation and a (GCG)7 allele result in earlier onset
    and more severe clinical manifestations of the disease


    2 SNPs in PABPN1 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs106321111,2
    C--23794251(+) TTGGCAA/-AGTTT 1 -- int12Minor allele frequency- -:0.00NA CSA 6
    rs582649301,2
    C--23795205(+) TTTTG-/TTTTTTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PABPN1 (23789397 - 23795394 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PABPN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv901493CNV Loss21882294


    Human Gene Mutation Database (HGMD): PABPN1

    Locus Specific Mutation Databases (LSDB): PABPN1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602279   
    OMIM disorders: 164300  
    UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42
  • Oculopharyngeal muscular dystrophy (OPMD) [MIM:164300]: A form of late-onset slowly progressive myopathy
    characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 16 diseases for PABPN1:    About MalaCards
    oculopharyngeal muscular dystrophy    oculopharyngodistal myopathy    exophthalmos    hereditary neuropathy with liability to pressure palsy
    hereditary neuropathies    dysphagia    neuromuscular disease    hereditary neuropathy with liability to pressure palsies
    muscular dystrophy    pharyngitis    neuropathy    myopathy
    lateral sclerosis    amyotrophic lateral sclerosis    influenza    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for PABPN1:
    Exophthalmos     Myopathy     Neuropathy

    PABPN1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    7 Novoseek inferred disease relationships for PABPN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophy oculopharyngeal 99.1 58 17418585 (2), 15150706 (2), 15755682 (2), 11079546 (2) (see all 47)
    dysphagia 76.9 7 15150706 (1), 16481821 (1), 9585341 (1), 11689481 (1) (see all 5)
    myopathy 60.8 2 11139982 (1), 11712939 (1)
    blepharoptosis 59.7 4 12355844 (1), 15725589 (1)
    muscular dystrophies 53.9 3 9392020 (1), 12944420 (1), 9585341 (1)
    neuromuscular diseases 49.6 1 11003790 (1)
    neurodegenerative diseases 9.69 1 11001936 (1)

    GeneTests: PABPN1
    GeneReviews: PABPN1
    Genetic Association Database (GAD): PABPN1
    Human Genome Epidemiology (HuGE) Navigator: PABPN1 (2 documents)

    Export disorders for PABPN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PABPN1 gene, integrated from 9 sources (see all 140):
    (articles sorted by number of sources associating them with PABPN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The product of an oculopharyngeal muscular dystrophy gene, poly(A)- binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. (PubMed id 11371506)1, 2, 9 Kim Y.-J....Arahata K. (2001)
    2. Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. (PubMed id 11689481)1, 2, 9 Fan X.... Rouleau G.A. (2001)
    3. Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. (PubMed id 12673802)1, 2, 9 van der Sluijs B.M.... Hoefsloot L.H. (2003)
    4. Deciphering the cellular pathway for transport of poly(A)-binding protein II. (PubMed id 10688363)1, 2, 9 Calado A.... Carmo-Fonseca M. (2000)
    5. Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. (PubMed id 11001936)1, 2, 9 Calado A....Carmo-Fonseca M. (2000)
    6. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. (PubMed id 9462747)1, 2, 9 Brais B.... Rouleau G.A. (1998)
    7. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. (PubMed id 11222452)1, 4, 9 Hill M.E....Hammans S.R. (2001)
    8. Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (2009)
    9. Molecular composition of IMP1 ribonucleoprotein granules. (PubMed id 17289661)1, 2 Joeson L.... Nielsen F.C. (2007)
    10. Distinct sequence motifs within the 68-kDa subunit of cleavage factor Im mediate RNA binding, protein-protein interactions, and subcellular localization. (PubMed id 15169763)1, 2 Dettwiler S.... Barabino S.M. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8106 HGNC: 8565 AceView: BCL2L2andPABPN1 Ensembl:ENSG00000100836 euGenes: HUgn8106
    ECgene: PABPN1 Kegg: 8106 H-InvDB: PABPN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PABPN1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PABPN1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PABPN1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PABPN1 gene:
    Search GeneIP for patents involving PABPN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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