InnateDB Protein
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IDBP-235708.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PABPN1
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Protein Name
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poly(A) binding protein, nuclear 1
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Synonyms
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OPMD; PAB2; PABII; PABP-2; PABP2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000380446
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InnateDB Gene
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IDBG-3173 (PABPN1)
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Protein Structure
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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). {ECO:0000250}.
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Subcellular Localization |
Nucleus {ECO:0000250}. Cytoplasm {ECO:0000269PubMed:10688363, ECO:0000269PubMed:11001936, ECO:0000269PubMed:14663186, ECO:0000269PubMed:17289661}. 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}.
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Disease Associations |
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:0000269PubMed:12673802}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Ubiquitous.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
36
[view]
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Protein-Protein |
34
[view]
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Protein-DNA |
1
[view]
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Protein-RNA |
0
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DNA-DNA |
1
[view]
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000504
RNA recognition motif domain
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PFAM |
PF00076
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PRINTS |
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PIRSF |
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SMART |
SM00360
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TIGRFAMs |
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Modification |
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SwissProt |
Q86U42
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PhosphoSite |
PhosphoSite-Q86U42
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TrEMBL |
B4DEH8
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UniProt Splice Variant |
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Entrez Gene |
8106
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UniGene |
Hs.714617
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RefSeq |
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HUGO |
HGNC:8565
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OMIM |
602279
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CCDS |
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HPRD |
03787
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IMGT |
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EMBL |
AF026029
AK293633
AL049829
BC010939
BX247976
CH471078
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GenPept |
AAC39596
AAH10939
BAG57089
CAD62310
EAW66167
EAW66168
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