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PABPN1 Gene

protein-coding   GIFtS: 64
GCID: GC14P023789

Poly(A) Binding Protein, Nuclear 1

(Previous names: poly(A)-binding protein, nuclear 1)
(Previous symbols: OPMD, PABP2)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 oculopharyngodistal myopathy, and oculopharyngeal muscular dystrophy. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   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 Chromatin IP Primers for PABPN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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. Identified in a IGF2BP1-dependent mRNP
granule complex containing 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
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: 

  • Arginine dimethylation is asymmetric and involves PRMT1 and PRMT3. It does not influence the RNA binding
    properties (By similarity)1
  • Ubiquitination2 at Lys123, Lys137, Lys207, Lys223
  • Modification sites at PhosphoSitePlus

  • See PABPN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004634.1  
    ENSEMBL proteins: 
     ENSP00000216727   ENSP00000380446   ENSP00000451970   ENSP00000450724   ENSP00000451592  
    Reactome Protein details: Q86U42

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding TAS9462747
    GO:0005515protein binding IPI11371506
    GO:0044822poly(A) RNA binding IDA--
         
    PABPN1 for ontologies           About GeneDecksing


    Animal Models:
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    6 qRT-PCR Assays for microRNAs that regulate PABPN1:
    hsa-miR-144 hsa-miR-525-5p hsa-miR-642b hsa-miR-520a-5p hsa-miR-3182 hsa-miR-1248
    SwitchGear 3'UTR luciferase reporter plasmidPABPN1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PABPN1

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PABP2_HUMAN, Q86U42: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol3
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19364924
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IEA--
    GO:0030529ribonucleoprotein complex IDA17289661

    PABPN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PABPN1 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA Splicing0.78
    Processing of Capped Intron-Containing Pre-mRNA0.78
    mRNA processing0.44
    2RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.80
    Processing of Capped Intronless Pre-mRNA0.52
    Cleavage of Growing Transcript in the Termination Region0.80
    Processing of Intronless Pre-mRNAs0.00
    mRNA 3-end processing0.80
    3Influenza Viral RNA Transcription and Replication
    Influenza Infection0.80
    NS1 Mediated Effects on Host Pathways0.00
    Host Interactions with Influenza Factors0.00
    Inhibition of Host mRNA Processing and RNA Silencing0.00
    4Formation of RNA Pol II elongation complex
    RNA Polymerase II Transcription0.60
    5Gene Expression
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PABPN1
        mRNA processing

    5 Reactome Pathways for PABPN1
        mRNA Splicing - Major Pathway
    mRNA 3'-end processing
    Inhibition of Host mRNA Processing and RNA Silencing
    Processing of Intronless Pre-mRNAs
    Cleavage of Growing Transcript in the Termination Region


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


    PABPN1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PABPN1
    Interactions:

        GeneGlobe Interaction Network for PABPN1

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

    Selected Interacting proteins for PABPN1 (Q86U421, 2, 3 ENSP000002167274) via UniProtKB, MINT, STRING, and/or I2D (see all 705)
    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): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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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)



    PABPN1 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PABPN1 gene: 
    NM_004643.3  

    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
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    SwitchGear 3'UTR luciferase reporter plasmidPABPN1 3' UTR sequence
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    Selected AceView cDNA sequences (see all 631):

    AA931492 BX282076 AI359935 BE561335 AA454588 CR591896 BU730152 BX247976 
    BG479049 AA194030 AA338047 BM826006 BQ024377 AI279367 CD678971 BQ647068 
    CR599417 BX331373 BG323731 CR613466 BU736669 CA430348 AI681508 AI827810 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PABPN1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 15) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Lung (Respiratory System)
    PABPN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PABPN1 Protein Expression

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

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    In Situ
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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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PABPN1 gene from Selected species (see all 20)    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 93.52(n)1
    98.1(a)1
      14 (27.98 cM)5
    541961  NM_019402.21  NP_062275.11 
     548925005 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    69(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
    Pabp21
    72(a)3
    62.68(n)1
    65.76(a)1
      357881  NM_165589.21  NP_724648.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C17E4.53
    pabp-21
    RNA binding protein (RNP like)3
    pabp-21
    60(a)3
    56.76(n)1
    56.22(a)1
      I(9429044-9430219)3
    1727681  NM_060103.41  NP_492504.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SGN16
    Cytoplasmic RNA-binding protein, contains an RNA r...
    21(a)
    1 → many
    IX(356143-356895) YIR001C
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G103501 AT5G10350 57.55(n)
    55.4(a)
      830899  NM_121073.3  NP_196597.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g02196001 Os06g0219600 56.98(n)
    56.76(a)
      4340509  NM_001063698.1  NP_001057163.1 


    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)
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    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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Polymorphic Variants from UniProtKB/Swiss-Prot
    PABP2_HUMAN, Q86U42: 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 for PABPN1    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

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing PABPN1
    DNA2.0 Custom Variant and Variant Library Synthesis for PABPN1

    (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

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    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

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

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    PubMed articles for PABPN1 gene, integrated from 10 sources (see all 143):
    (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. (Hum. Mol. Genet. 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. (Hum. Mol. Genet. 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. (Hum. Mutat. 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. (RNA 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. (Hum. Mol. Genet. 2000)
    6. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. (PubMed id 9462747)1, 2, 9 Brais B.... Rouleau G.A. (Nat. Genet. 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. (Brain 2001)
    8. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (Occup Environ Med 2009)
    9. Molecular composition of IMP1 ribonucleoprotein granules. (PubMed id 17289661)1, 2 Joeson L.... Nielsen F.C. (Mol. Cell. Proteomics 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. (J. Biol. Chem. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 8106 HGNC: 8565 AceView: BCL2L2andPABPN1 Ensembl:ENSG00000100836 euGenes: HUgn8106
    ECgene: PABPN1 Kegg: 8106 H-InvDB: PABPN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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/books/NBK1116/?term=PABPN1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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