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PABPN1

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Identifiers
SymbolsPABPN1 ; OPMD; PAB2; PABII; PABP-2; PABP2
External IDsOMIM602279 MGI1859158 HomoloGene3412 GeneCards: PABPN1 Gene
RNA expression pattern
File:PBB GE PABPN1 201544 x at tn.png
File:PBB GE PABPN1 201545 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez810654196
EnsemblENSG00000100836ENSMUSG00000022194
UniProtQ86U42Q8CCS6
RefSeq (mRNA)NM_004643NM_019402
RefSeq (protein)NP_004634NP_062275
Location (UCSC)Chr 14:
23.79 – 23.8 Mb
Chr 14:
54.89 – 54.9 Mb
PubMed search[1][2]

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.[1][2]

Function

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.[3] 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.[2]

Interactions

PABPN1 has been shown to interact with SNW1.[4]

References

  1. ^ Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD et al. (Aug 1995). "The oculopharyngeal muscular dystrophy locus maps to the region of the cardiac alpha and beta myosin heavy chain genes on chromosome 14q11.2-q13". Hum Mol Genet 4 (3): 429–34. PMID 7795598. doi:10.1093/hmg/4.3.429. 
  2. ^ a b "Entrez Gene: PABPN1 poly(A) binding protein, nuclear 1". 
  3. ^ Brais B (January 2009). "Oculopharyngeal muscular dystrophy: a polyalanine myopathy.". Current neurology and neuroscience reports 9 (1): 76–82. PMID 19080757. doi:10.1007/s11910-009-0012-y. 
  4. ^ Kim YJ, Noguchi S, Hayashi YK, Tsukahara T, Shimizu T, Arahata K (May 2001). "The product of an oculopharyngeal muscular dystrophy gene, poly(A)-binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression". Hum. Mol. Genet. (England) 10 (11): 1129–39. ISSN 0964-6906. PMID 11371506. doi:10.1093/hmg/10.11.1129. 

Further reading

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External links


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