Homo sapiens Gene: PABPN1 | |||||||||||||||||||||||||||
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Summary | |||||||||||||||||||||||||||
InnateDB Gene | IDBG-3173.6 | ||||||||||||||||||||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||||||
Gene Symbol | PABPN1 | ||||||||||||||||||||||||||
Gene Name | poly(A) binding protein, nuclear 1 | ||||||||||||||||||||||||||
Synonyms | OPMD; PAB2; PABII; PABP-2; PABP2 | ||||||||||||||||||||||||||
Species | Homo sapiens | ||||||||||||||||||||||||||
Ensembl Gene | ENSG00000100836 | ||||||||||||||||||||||||||
Encoded Proteins |
poly(A) binding protein, nuclear 1
poly(A) binding protein, nuclear 1
poly(A) binding protein, nuclear 1
poly(A) binding protein, nuclear 1
poly(A) binding protein, nuclear 1
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Protein Structure | |||||||||||||||||||||||||||
Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||||
Summary |
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] 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] |
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Gene Information | |||||||||||||||||||||||||||
Type | Protein coding | ||||||||||||||||||||||||||
Genomic Location | Chromosome 14:23321289-23326185 | ||||||||||||||||||||||||||
Strand | Forward strand | ||||||||||||||||||||||||||
Band | q11.2 | ||||||||||||||||||||||||||
Transcripts | |||||||||||||||||||||||||||
Interactions | |||||||||||||||||||||||||||
Number of Interactions |
This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
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Gene Ontology | |||||||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Orthologs | |||||||||||||||||||||||||||
No orthologs found for this gene | |||||||||||||||||||||||||||
Pathways | |||||||||||||||||||||||||||
NETPATH | |||||||||||||||||||||||||||
REACTOME |
Processing of Intronless Pre-mRNAs pathway
mRNA 3'-end processing pathway
Inhibition of Host mRNA Processing and RNA Silencing pathway
mRNA Splicing - Major Pathway pathway
Processing of Capped Intron-Containing Pre-mRNA pathway
Cleavage of Growing Transcript in the Termination Region pathway
Influenza Infection pathway
RNA Polymerase II Transcription Termination pathway
NS1 Mediated Effects on Host Pathways pathway
RNA Polymerase II Transcription pathway
Processing of Capped Intronless Pre-mRNA pathway
mRNA Splicing pathway
Host Interactions with Influenza Factors pathway
Gene Expression pathway
Disease pathway
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KEGG |
mRNA surveillance pathway pathway
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INOH | |||||||||||||||||||||||||||
PID NCI | |||||||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||||||
TrEMBL | |||||||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||||||
Entrez Gene | |||||||||||||||||||||||||||
UniGene | Hs.623584 Hs.707712 Hs.714617 | ||||||||||||||||||||||||||
RefSeq | NM_004643 | ||||||||||||||||||||||||||
HUGO | |||||||||||||||||||||||||||
OMIM | |||||||||||||||||||||||||||
CCDS | CCDS9592 | ||||||||||||||||||||||||||
HPRD | 03787 | ||||||||||||||||||||||||||
IMGT | |||||||||||||||||||||||||||
EMBL | |||||||||||||||||||||||||||
GenPept | |||||||||||||||||||||||||||
RNA Seq Atlas | |||||||||||||||||||||||||||