InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PABPN1

Summary

InnateDB Protein

IDBP-3175.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PABPN1

Protein Name

poly(A) binding protein, nuclear 1

Synonyms

OPMD; PAB2; PABII; PABP-2; PABP2;

Species

Homo sapiens

Ensembl Protein

ENSP00000216727

InnateDB Gene

IDBG-3173 (PABPN1)

Protein Structure

UniProt Annotation

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}.

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}.

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.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.

Experimentally validated
Total	36 [view]
Protein-Protein	34 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003676	nucleic acid binding
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0000398	mRNA splicing, via spliceosome
GO:0006366	transcription from RNA polymerase II promoter
GO:0006369	termination of RNA polymerase II transcription
GO:0006396	RNA processing
GO:0006936	muscle contraction
GO:0008380	RNA splicing
GO:0010467	gene expression
GO:0016973	poly(A)+ mRNA export from nucleus
GO:0019048	modulation by virus of host morphology or physiology
GO:0019054	modulation by virus of host process
GO:0019058	viral life cycle
GO:0031124	mRNA 3'-end processing
GO:0046778	modification by virus of host mRNA processing