PABPN1
entrez
8106
canonical
uniprot
Q86U42
canonical
ensembl
ENSG00000100836
resolver
ensp
ENSP00000216727
resolver
ensp
ENSP00000380446
resolver
ensp
ENSP00000451970
resolver
enst
ENST00000556821
resolver
genesymbol
PABPN1
resolver
genesymbol_syn
PAB2
resolver
genesymbol_syn
PABP2
resolver
hgnc
HGNC:8565
resolver
uniprot
D3DS49
resolver
uniprot
G3V4T2
resolver
uniprot
O43484
resolver
uniprot_entry
G3V4T2_HUMAN
resolver
uniprot_entry
PABP2_HUMAN
resolver
uniprot_sec
D3DS49
resolver
uniprot_sec
O43484
resolver
amino_acid_sequence
MAAAAAAAAAAGAAGGRGSGPGRRRHLVPGAGGEAGEGAPGGAGDYGNGLESEELEPEELLLEPEPEPEPEEEPPRPRAPPGAPGPGPGSGAPGSQEEEEEPGLVEGDPGDGAIEDPELEAIKARVREMEEEAEKLKELQNEVEKQMNMSPPPGNAGPVIMSIEEKMEADARSIYVGNVDYGATAEELEAHFHGCGSVNRVTILCDKFSGHPKGFAYIEFSDKESVRTSLALDESLFRGRQIKVIPKRTNRPGISTTDRGFPRARYRARTTNYNSSRSRFYSGFNSRPRGRVYRGRARATSWYSPY
uniprot
proteins
disease_involvement
DISEASE: Oculopharyngeal muscular dystrophy 1 (OPMD1) [MIM:164300]: An autosomal dominant, 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (By similarity). Stimulates poly(A) polymerase (PAPOLA) conferring processivity on the poly(A) tail elongation reaction and also controls the poly(A) tail length (By similarity). Increases the affinity of poly(A) polymerase for RNA (By similarity). 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 (PubMed:11371506). Binds to poly(A) and to poly(G) with high affinity (By similarity). May protect the poly(A) tail from degradation (By similarity). Subunit of the trimeric poly(A) tail exosome targeting (PAXT) complex, a complex that directs a subset of long and polyadenylated poly(A) RNAs for exosomal degradation. The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate targeting is facilitated by its cofactor MTREX, which links to RNA-binding protein adapters (PubMed:27871484). {ECO:0000250|UniProtKB:Q28165, ECO:0000269|PubMed:11371506, ECO:0000269|PubMed:27871484}.
uniprot
proteins
mass_dalton
32749
uniprot
proteins
mutagenesis
MUTAGEN 213..220; /note="Missing: Abolishes self-association, protein aggregation and cell death."; /evidence="ECO:0000269|PubMed:11689481"; MUTAGEN 301..306; /note="Missing: Abolishes self-association, protein aggregation and cell death."; /evidence="ECO:0000269|PubMed:11689481
uniprot
proteins
post_translational_modification
PTM: Arginine dimethylation is asymmetric and involves PRMT1 and PRMT3. It does not influence the RNA binding properties (By similarity). {ECO:0000250}.
uniprot
proteins
pubmed
10205180
uniprot
proteins
pubmed
10688363
uniprot
proteins
pubmed
11001936
uniprot
proteins
pubmed
11371506
uniprot
proteins
pubmed
11689481
uniprot
proteins
pubmed
12673802
uniprot
proteins
pubmed
14663186
uniprot
proteins
pubmed
15169763
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17103222
uniprot
proteins
pubmed
17289661
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21700224
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24129315
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27209344
uniprot
proteins
pubmed
27871484
uniprot
proteins
pubmed
37356722
uniprot
proteins
pubmed
9462747
uniprot
proteins
sequence_length
306
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10688363, ECO:0000269|PubMed:11001936, ECO:0000269|PubMed:14663186, ECO:0000269|PubMed:27209344}. Cytoplasm {ECO:0000269|PubMed:10688363, ECO:0000269|PubMed:11001936, ECO:0000269|PubMed:14663186, ECO:0000269|PubMed:17289661}. Nucleus speckle {ECO:0000269|PubMed:10688363, ECO:0000269|PubMed:11371506}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Shuttles between the nucleus and the cytoplasm but predominantly found in the nucleus (PubMed:10688363). Its nuclear import may involve the nucleocytoplasmic transport receptor transportin and a RAN-GTP-sensitive import mechanism (By similarity). Is exported to the cytoplasm by a carrier-mediated pathway that is independent of mRNA traffic. Colocalizes with SKIP and poly(A) RNA in nuclear speckles (By similarity). 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. {ECO:0000250|UniProtKB:Q28165, ECO:0000269|PubMed:10688363, ECO:0000269|PubMed:11001936, ECO:0000269|PubMed:11371506, ECO:0000269|PubMed:14663186, ECO:0000269|PubMed:17289661, ECO:0000269|PubMed:27209344}.
uniprot
proteins