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Gene: PABPN1

On chromosome: 14q11.2
Known also as: poly(A) binding protein, nuclear 1

Known abbreviations: OPMD, PAB2, PABII, PABP2, PABP-2


NCBI GeneID 8106
NCBI Ensembl Id: ENSG00000100836
Species: Homo sapiens

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]


Gene sequence:
[Download sequence]

Proteins coded by this gene:
References:

Title Authors Journal Publication date (Issue) PubMed ID
Toward a confocal subcellular atlas of the human proteome. Barbe L, Lundberg E, Oksvold P, Stenius A, Lewin E, Bjorling E, Asplund A, Ponten F, Brismar H, Uhlen M, Andersson-Svahn H Mol Cell Proteomics 2008-03-01 (7) 18029348
Distinct sequence motifs within the 68-kDa subunit of cleavage factor Im mediate RNA binding, protein-protein interactions, and subcellular localization. Dettwiler S, Aringhieri C, Cardinale S, Keller W, Barabino SM J Biol Chem 2004-08-20 (279) 15169763
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, Lafreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M, Rouleau GA Nat Genet 1998-01-01 (18) 9462747
A conserved CCCH-type zinc finger protein regulates mRNA nuclear adenylation and export. Hurt JA, Obar RA, Zhai B, Farny NG, Gygi SP, Silver PA J Cell Biol 2009-04-20 (185) 19364924


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Last modification of this entry: Aug. 22, 2012.

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