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Aliases for PABPN1 Gene

Aliases for PABPN1 Gene

  • Poly(A) Binding Protein, Nuclear 1 2 3
  • PABP2 3 4 6
  • PAB2 3 4 6
  • PABP-2 3 4
  • PABII 3 4
  • Polyadenylate-Binding Nuclear Protein 1 4
  • Poly(A)-Binding Protein, Nuclear 1 2
  • Nuclear Poly(A)-Binding Protein 1 4
  • Polyadenylate-Binding Protein 2 3
  • Poly(A) Binding Protein II 3
  • Poly(A)-Binding Protein II 4
  • Poly(A) Binding Protein 2 3
  • Poly(A)-Binding Protein 2 4
  • OPMD 3

External Ids for PABPN1 Gene

Previous Symbols for PABPN1 Gene

  • OPMD
  • PABP2

Summaries for PABPN1 Gene

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. Among its related pathways are Disease and Gene Expression. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is BCL2L2-PABPN1.

UniProtKB/Swiss-Prot for PABPN1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PABPN1 Gene

Genomics for PABPN1 Gene

Genomic Location for PABPN1 Gene

Start:
23,320,188 bp from pter
End:
23,326,185 bp from pter
Size:
5,998 bases
Orientation:
Plus strand

Genomic View for PABPN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PABPN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PABPN1 Gene

Regulatory Elements for PABPN1 Gene

Proteins for PABPN1 Gene

  • Protein details for PABPN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86U42-PABP2_HUMAN
    Recommended name:
    Polyadenylate-binding protein 2
    Protein Accession:
    Q86U42
    Secondary Accessions:
    • D3DS49
    • O43484

    Protein attributes for PABPN1 Gene

    Size:
    306 amino acids
    Molecular mass:
    32749 Da
    Quaternary structure:
    • May interact with SETX (PubMed:21700224). 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
    SequenceCaution:
    • Sequence=CAD62310.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PABPN1 Gene

    Alternative splice isoforms for PABPN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PABPN1 Gene

Proteomics data for PABPN1 Gene at MOPED

Post-translational modifications for PABPN1 Gene

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

Other Protein References for PABPN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for PABPN1 Gene

Domains for PABPN1 Gene

Gene Families for PABPN1 Gene

HGNC:
  • RBM :RNA binding motif (RRM) containing

Protein Domains for PABPN1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PABPN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q86U42

UniProtKB/Swiss-Prot:

PABP2_HUMAN
Domain:
  • The RRM domain is essential for specific adenine bases recognition in the poly(A) tail but not sufficient for poly(A) binding.:
    • Q86U42
  • Contains 1 RRM (RNA recognition motif) domain.:
    • Q86U42
genes like me logo Genes that share domains with PABPN1: view

Function for PABPN1 Gene

Molecular function for PABPN1 Gene

GENATLAS Biochemistry: poly (A) binding protein,nuclear 1,with a 5 polymorphic,unstable GCG (alanine) repeat,amplified in oculopharyngeal muscular dystrophy (OPMD)
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for PABPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding --
GO:0003723 RNA binding TAS 9462747
GO:0005515 protein binding IPI 11371506
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with PABPN1: view

miRNA for PABPN1 Gene

miRTarBase miRNAs that target PABPN1

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for PABPN1 Gene

Localization for PABPN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PABPN1 Gene

Nucleus. 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). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PABPN1 Gene COMPARTMENTS Subcellular localization image for PABPN1 gene
Compartment Confidence
nucleus 4
cytosol 3
extracellular 1

Gene Ontology (GO) - Cellular Components for PABPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19364924
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0030529 ribonucleoprotein complex IDA 17289661
genes like me logo Genes that share ontologies with PABPN1: view

Pathways for PABPN1 Gene

genes like me logo Genes that share pathways with PABPN1: view

Pathways by source for PABPN1 Gene

Gene Ontology (GO) - Biological Process for PABPN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006366 transcription from RNA polymerase II promoter TAS --
GO:0006369 termination of RNA polymerase II transcription TAS --
GO:0006396 RNA processing TAS 9462747
GO:0006936 muscle contraction TAS 9462747
genes like me logo Genes that share ontologies with PABPN1: view

Compounds for PABPN1 Gene

(1) HMDB Compounds for PABPN1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(5) Novoseek inferred chemical compound relationships for PABPN1 Gene

Compound -log(P) Hits PubMed IDs
alanine 74.1 60
adenylate 71.2 38
glutamine 39.2 1
arginine 2.34 3
creatinine 0.0361 1
genes like me logo Genes that share compounds with PABPN1: view

Transcripts for PABPN1 Gene

Unigene Clusters for PABPN1 Gene

Poly(A) binding protein, nuclear 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PABPN1 Gene

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

Relevant External Links for PABPN1 Gene

GeneLoc Exon Structure for
PABPN1
ECgene alternative splicing isoforms for
PABPN1

Expression for PABPN1 Gene

mRNA expression in normal human tissues for PABPN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PABPN1 Gene

SOURCE GeneReport for Unigene cluster for PABPN1 Gene Hs.707712

mRNA Expression by UniProt/SwissProt for PABPN1 Gene

Q86U42-PABP2_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with PABPN1: view

No data available for mRNA differential expression in normal tissues for PABPN1 Gene

Orthologs for PABPN1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PABPN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PABPN1 35
  • 99.56 (n)
  • 100 (a)
PABPN1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PABPN1 35
  • 96.73 (n)
  • 99.35 (a)
PABPN1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PABPN1 35
  • 97.93 (n)
  • 100 (a)
PABPN1 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pabpn1 35
  • 93.52 (n)
  • 98.1 (a)
Pabpn1 16
Pabpn1 36
  • 98 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 96 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 97 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pabpn1 35
  • 92.73 (n)
  • 98.58 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 69 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8918 35
zebrafish
(Danio rerio)
Actinopterygii pabpn1 36
  • 61 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005117 35
  • 63.92 (n)
  • 67.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pabp2 35
  • 62.68 (n)
  • 65.76 (a)
Pabp2 36
  • 57 (a)
OneToMany
Pabp2 37
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea pabp-2 35
  • 56.76 (n)
  • 56.22 (a)
pabp-2 36
  • 50 (a)
OneToMany
C17E4.5 37
  • 60 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SGN1 36
  • 21 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G10350 35
  • 57.55 (n)
  • 55.4 (a)
corn
(Zea mays)
Liliopsida Zm.928 35
rice
(Oryza sativa)
Liliopsida Os06g0219600 35
  • 56.98 (n)
  • 56.76 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1647 36
  • 67 (a)
OneToMany
Species with no ortholog for PABPN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PABPN1 Gene

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

Paralogs for PABPN1 Gene

Paralogs for PABPN1 Gene

Selected SIMAP similar genes for PABPN1 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for PABPN1 Gene

genes like me logo Genes that share paralogs with PABPN1: view

Variants for PABPN1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PABPN1 Gene

Q86U42-PABP2_HUMAN
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

Structural Variations from Database of Genomic Variants (DGV) for PABPN1 Gene

Variant ID Type Subtype PubMed ID
nsv901493 CNV Loss 21882294

Relevant External Links for PABPN1 Gene

HapMap Linkage Disequilibrium report
PABPN1
Human Gene Mutation Database (HGMD)
PABPN1
Locus Specific Mutation Databases (LSDB)
PABPN1

No data available for Sequence variations from dbSNP and Humsavar for PABPN1 Gene

Disorders for PABPN1 Gene

(1) OMIM Diseases for PABPN1 Gene (602279)

UniProtKB/Swiss-Prot

PABP2_HUMAN
  • 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. {ECO:0000269 PubMed:12673802}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for PABPN1 Gene

(7) Novoseek inferred disease relationships for PABPN1 Gene

Disease -log(P) Hits PubMed IDs
muscular dystrophy oculopharyngeal 99.1 54
dysphagia 76.9 5
myopathy 60.8 2
blepharoptosis 59.7 2
muscular dystrophies 53.9 3

Relevant External Links for PABPN1

GeneTests
PABPN1
GeneReviews
PABPN1
Genetic Association Database (GAD)
PABPN1
Human Genome Epidemiology (HuGE) Navigator
PABPN1
genes like me logo Genes that share disorders with PABPN1: view

Publications for PABPN1 Gene

  1. Deciphering the cellular pathway for transport of poly(A)-binding protein II. (PMID: 10688363) Calado A. … Carmo-Fonseca M. (RNA 2000) 3 4 23
  2. Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. (PMID: 11001936) Calado A. … Carmo-Fonseca M. (Hum. Mol. Genet. 2000) 3 4 23
  3. Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. (PMID: 11689481) Fan X. … Rouleau G.A. (Hum. Mol. Genet. 2001) 3 4 23
  4. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. (PMID: 11222452) Hill M.E. … Hammans S.R. (Brain 2001) 3 23 48
  5. The product of an oculopharyngeal muscular dystrophy gene, poly(A)- binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. (PMID: 11371506) Kim Y.-J. … Arahata K. (Hum. Mol. Genet. 2001) 3 4 23

Products for PABPN1 Gene

Sources for PABPN1 Gene

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