PABPN1

PABPN1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3B4D, 3B4M, 3UCG
Identifiers
Aliases	PABPN1, OPMD, PAB2, PABII, PABP-2, PABP2, poly(A) binding protein nuclear 1
External IDs	MGI: 1859158 HomoloGene: 3412 GeneCards: PABPN1
Gene ontology Molecular function • protein binding • nucleic acid binding • RNA binding • RNA polymerase binding Cellular component • cytoplasm • nucleoplasm • nuclear inclusion body • nucleus • nuclear speck • intracellular ribonucleoprotein complex Biological process • mRNA splicing, via spliceosome • termination of RNA polymerase II transcription • RNA processing • muscle contraction • mRNA processing • poly(A)+ mRNA export from nucleus • modification by virus of host mRNA processing • mRNA 3'-end processing • MAPK cascade • cellular response to lipopolysaccharide • positive regulation of polynucleotide adenylyltransferase activity Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	8106	54196
Ensembl	ENSG00000100836	ENSMUSG00000022194
UniProt	Q86U42	Q8CCS6
RefSeq (mRNA)	NM_004643	NM_019402
RefSeq (protein)	NP_004634	NP_062275.1 NP_062275
Location (UCSC)	Chr 14: 23.32 – 23.33 Mb	Chr 14: 54.89 – 54.9 Mb
PubMed search

3B4D, 3B4M, 3UCG

8106

54196

ENSG00000100836

ENSMUSG00000022194

Q86U42

Q8CCS6

NM_004643

NM_019402

NP_004634

NP_062275.1
NP_062275

Polyadenylate-binding protein 2 (PABP-2) also known as polyadenylate-binding nuclear protein 1 (PABPN1) is a protein that in humans is encoded by the 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 on the 3' ends of eukaryotic genes 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. An expansion of the trinucleotide (GCN) repeat from normal 10 to 11-17 at the 5' end of the coding region of this gene leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Multiple splice variants have been described but their full-length nature is not known. One splice variant includes introns 1 and 6 but no protein is formed.

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