Pabpn1 Gene Search Result

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9 records found for search term Pabpn1

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RGD ID	Symbol	Name	Description	Chr	Start	Stop	Species	Annotations	Match	Type
1345820	PABPN1	poly(A) binding protein nuclear 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-st ... (more) ate, 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]	14	23321457	23326163	Human	169	symbol , COSMIC , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
5507955	BCL2L2-PABPN1	BCL2L2-PABPN1 readthrough	This locus represents naturally occurring read-through transcription between the neighboring BCL2L2 (BCL2-like 2) and PABPN1 (poly(A) binding protein, nuclear 1) genes on chromosome 14. The read-through transcript encodes a fusion protein that shares sequence id ... (more) entity with each individual gene product. [provided by RefSeq, Dec 2010]	14	23306833	23326163	Human	14	symbol , COSMIC , name , description , Human Proteome Map	gene, protein-coding, REVIEWED [RefSeq]
27096012	PABPN1P1	PABPN1 pseudogene 1		X	71419229	71420649	Human		symbol , GTEx , COSMIC , name , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
16551952	PABPN1P1	PABPN1 pseudogene 1					Human		symbol , old_gene_name , COSMIC , name , Human Proteome Map	gene, processed_pseudogene
27095974	PABPN1P2	PABPN1 pseudogene 2		19	52810143	52814026	Human		symbol , GTEx , COSMIC , name , Human Proteome Map	gene, pseudo, INFERRED [RefSeq]
16560903	PABPN1P2	PABPN1 pseudogene 2					Human		symbol , old_gene_name , COSMIC , name , Human Proteome Map	gene, processed_pseudogene
3078328	PABPN1L	PABPN1 like, cytoplasmic	Predicted to enable poly(A) binding activity. Predicted to be involved in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay. Predicted to act upstream of or within maternal-to-zygotic transition of gene expression; negative regulation of SCF-dependent proteasomal ubiquitin-de ... (more) pendent catabolic process; and negative regulation of protein ubiquitination. Predicted to be located in cytoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]	16	88863333	88870135	Human	33	symbol , COSMIC , name , Human Proteome Map	gene, protein-coding, VALIDATED [RefSeq]
16555702	AL049564.1	poly(A) binding protein, nuclear 1 (PABPN1) pseudogene		X	67533154	67533943	Human		name	gene, pseudo, INFERRED [RefSeq]
1352362	BCL2L2	BCL2 like 2	This gene encodes a member of the BCL-2 protein family. The proteins of this family form hetero- or homodimers and act as anti- and pro-apoptotic regulators. Expression of this gene in cells has been shown to contribute to reduced cell apoptosis under cytotoxic conditions. Studies of the related gen ... (more) e in mice indicated a role in the survival of NGF- and BDNF-dependent neurons. Mutation and knockout studies of the mouse gene demonstrated an essential role in adult spermatogenesis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring downstream PABPN1 (poly(A) binding protein, nuclear 1) gene. [provided by RefSeq, Dec 2010]	14	23306833	23311751	Human	202	description	gene, protein-coding, REVIEWED [RefSeq]