PABPN1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPABPN1, OPMD, PAB2, PABII, PABP-2, PABP2, poly(A) binding protein nuclear 1
External IDsOMIM: 602279 MGI: 1859158 HomoloGene: 3412 GeneCards: PABPN1
Orthologs
SpeciesHumanMouse
Entrez

8106

54196

Ensembl

ENSG00000100836

ENSMUSG00000022194

UniProt

Q86U42

Q8CCS6

RefSeq (mRNA)

NM_004643
NM_001360551
NM_001360552

NM_019402

RefSeq (protein)

NP_004634
NP_001347480
NP_001347481

NP_062275

Location (UCSC)Chr 14: 23.32 – 23.33 MbChr 14: 55.13 – 55.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5][6] PABN1 is a member of a larger family of poly(A)-binding proteins in the human genome.

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.[7] 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.[6]

Interactions

PABPN1 has been shown to interact with SNW1.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100836 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000022194 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Brais B, Xie YG, Sanson M, Morgan K, Weissenbach J, Korczyn AD, Blumen SC, Fardeau M, Tomé FM, Bouchard JP (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. doi:10.1093/hmg/4.3.429. PMID 7795598.
  6. ^ a b "Entrez Gene: PABPN1 poly(A) binding protein, nuclear 1".
  7. ^ Brais B (January 2009). "Oculopharyngeal muscular dystrophy: a polyalanine myopathy". Current Neurology and Neuroscience Reports. 9 (1): 76–82. doi:10.1007/s11910-009-0012-y. PMID 19080757. S2CID 7248907.
  8. ^ 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. doi:10.1093/hmg/10.11.1129. ISSN 0964-6906. PMID 11371506.

Further reading

External links


Post-transcriptional modification
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