PABPN1
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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:602279 Ensembl IDEnsembl:ENSG00000100836 HGNC IDHGNC:HGNC:8565 PHARMGKB IDPA32891 Map Location14q11.2 | |||||
GO terms in PABPN1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0003723 | RNA binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | ISS | GO:0070063 | RNA polymerase binding |
| BP | ISS | GO:0000165 | MAPK cascade |
| BP | TAS | GO:0000398 | mRNA splicing, via spliceosome |
| BP | TAS | GO:0006369 | termination of RNA polymerase II transcription |
Gene expression in normal tissue: PABPN1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PABPN1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP411 | mRNA Processing |
| kegg | hsa03015 | mRNA surveillance pathway - Homo sapiens (human) |
| kegg | hsa05164 | Influenza A - Homo sapiens (human) |
| biocarta | cpsfpathway | polyadenylation of mrna |
| reactome | R-HSA-109688 | Cleavage of Growing Transcript in the Termination Region |
| reactome | R-HSA-1643685 | Disease |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PABPN1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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