PABPN1

Name

poly(A) binding protein nuclear 1

Type

protein-coding

Position

23,321,447–23,326,176 (+)

Aliases

OPMD, PAB2, PABII, PABP-2, PABP2

Ensembl

ENSG00000100836

RefSeq RNA

NM_001360551.3, NM_001360552.2, NM_004643.4

RefSeq protein

NP_001347480.1, NP_001347481.1, NP_004634.1

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].

via MyGene.info

Gene · Ensembl

poly(A) binding protein nuclear 1

Symbol

PABPN1

Biotype

Protein coding

Organism

Homo sapiens

Location

14:23,321,447-23,326,176

Strand

Forward (+)

Assembly

GRCh38