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FLASH GENE
Symbol PABPN1 contributors: mct - updated : 07-06-2008
HGNC name poly(A) binding protein, nuclear 1
HGNC id 8565
Corresponding disease
OPMD oculopharyngeal muscular dystrophy
Location 14q11.2      Physical location : 23.789.396 - 23.795.367
Synonym name
  • polyadenylate-binding protein 2
  • oculopharyngeal muscular dystrophy
    • Synonym symbol(s) PABP2, PAB2, OPMD, PABII, Poly
    DNA
    TYPE functioning gene
    STRUCTURE 5.98 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence
    text structure a 5' polymorphic,unstable GCG (alanine) repeat, from 6 to 8-13 copies
    MAPPING cloned Y linked N status confirmed
    Physical map
    MRPL52 14q11.2 mitochondrial ribosomal protein L52 MMP14 14q11.2 matrix metalloproteinase 14 (membrane-inserted) LRP10 14q11.2 low density lipoprotein receptor-related protein 10 FLJ38964 14q11.2 hypothetical protein FLJ38964 RNPC4 14q11.2 RNA-binding region (RNP1, RRM) containing 4 SKB1 14q11.2-q21 SKB1 homolog (S. pombe) C14orf94 14q11.1 chromosome 14 open reading frame 94 JUB 14q11.2 jub, ajuba homolog (Xenopus laevis) C14orf93 14q11.1 chromosome 14 open reading frame 93 PSMB5 14q11.2 proteasome (prosome, macropain) subunit, beta type, 5 LOC122706 14q11.2 similar to RIKEN cDNA 5830406J20 CDH24 14q11.2 cadherin-like 24 ACINUS 14q11.2 apoptotic chromatin condensation inducer in the nucleus C14orf119 14q11.2 chromosome 14 open reading frame 119 CEBPE 14q11.2 CCAAT/enhancer binding protein (C/EBP), epsilon SLC7A8 14q11.2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 RPL39P2 14 ribosomal protein L39 pseudogene 2 HMGN2P 14 high-mobility group nucleosomal binding domain 2 pseudogene KIAA1443 14q11.2 KIAA1443 LOC90673 BCL2L2 14q11.2-q12 BCL2-like 2 PABPN1 14q11.2-q13 poly(A) binding protein, nuclear 1 SLC22A17 14q11.2 solute carrier family 22 (organic cation transporter), member 17 EFS 14q11.2-q12 embryonal Fyn-associated substrate IL17E 14q11.2 interleukin 17E CKLFSF5 14q11.2 chemokine-like factor super family 5 MYH6 14q11.2 myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1) MYH7 14q11.2 myosin, heavy polypeptide 7, cardiac muscle, beta C14orf120 14q11.2 chromosome 14 open reading frame 120 ZFHX2 14q11.2 zinc finger homeobox 2 ZNF409 14q11.2 zinc finger protein 409 THTPA 14q11.2 thiamine triphosphatase AP1G2 14q11.2 adaptor-related protein complex 1, gamma 2 subunit JPHL1 14q11 junctophilin like 1 LOC387974 14 LOC387974 DHRS2 14q11.2 dehydrogenase/reductase (SDR family) member 2
    RNA
    TRANSCRIPTS type messenger
    text multiple splice variants
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 3080 32.7 306 - 2008 18343218
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Nervousbrain    
     nerve   highly
    Reproductivemale systemprostate   
     male systemtestis  highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an acidic N terminal domain with trinucleotide expansion, with possible role in PABPN1 nucleo-cytoplasmic transport
  • one putative RNA binding domain of the RNP type
  • a C terminal basic domain
    • mono polymer complex
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    intracellular,nucleus,nucleolus
    text
  • germinal center of lymph nodule
  • possible role of the N-terminal polyalanine tract in PABPN1 nucleo-cytoplasmic transport
    • basic FUNCTION
  • required for progressive and efficient polymerization of poly(A) tail on the 3' end and controlling its size to abot 240 nucleotides
  • involved in muscular contraction
  • provides some protection to cells against pro-apoptotic insults distinct from the OPMD mutation such as staurosporine treatment and Bax expression
  • likely exerting its anti-apoptotic effect through the regulation of BIRC4 levels
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • CPSF (160, 100, 73, 30)/PARN/PABPN1
    • INTERACTION
    DNA
    RNA binding to poly (A)
    small molecule
    protein
  • SKIP for the control of expression of muscle-specific genes
  • interacting with XIAP
    • cell & other
    REGULATION
    Other upregulating MYOD1
    ASSOCIATED DISORDERS
    corresponding disease(s) OPMD
    Susceptibility
    Variant & Polymorphism repeat polyalanine expansion leading to the formation of nuclear aggregates (intranuclear inclusions)
    Candidate gene
    Marker
    Therapy target
  • anti-aggregation therapy (trehalose), reducing aggregate formation, may prove effective in the treatment of OPMD
  • a single-domain intracellular antibody, preventing oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein
    • ANIMAL & CELL MODELS