Contents

PABPN1

Protein-coding gene in the species Homo sapiens

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	OMIM: 602279; MGI: 1859158; HomoloGene: 3412; GeneCards: PABPN1; OMA:PABPN1 - orthologs
Gene location (Human) Chr. Chromosome 14 (human)[1] Band 14q11.2 Start 23,321,457 bp[1] End 23,326,163 bp[1]
Gene location (Mouse) Chr. Chromosome 14 (mouse)[2] Band 14 C3|14 27.98 cM Start 55,129,957 bp[2] End 55,135,626 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right testis left testis right hemisphere of cerebellum right uterine tube anterior pituitary body of uterus right lobe of thyroid gland left lobe of thyroid gland ganglionic eminence sural nerve Top expressed in neural layer of retina ventricular zone tail of embryo renal corpuscle superior frontal gyrus genital tubercle primary visual cortex epiblast lip dentate gyrus of hippocampal formation granule cell More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding nucleic acid binding RNA binding RNA polymerase binding Cellular component cytoplasm nucleoplasm nuclear inclusion body nucleus nuclear speck 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
Orthologs Species Human Mouse 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 Mb Chr 14: 55.13 – 55.14 Mb PubMed search [3] [4]
Wikidata
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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[edit]

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[edit]

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

References[edit]

Further reading[edit]

External links[edit]

• GeneReviews/NCBI/NIH/UW entry on Oculopharyngeal Muscular Dystrophy
• PDBe-KB provides an overview of all the structure information available in the PDB for Human Polyadenylate-binding protein 2

This article on a gene on human chromosome 14 is a stub. You can help Wikipedia by expanding it.