PABPN1 (poly(A) binding protein nuclear 1)

2003-05-01  

Identity

HGNC
LOCATION
14q11.2
LOCUSID
ALIAS
OPMD,PAB2,PABII,PABP-2,PABP2
FUSION GENES

Other Information

Locus ID:

NCBI: 8106
MIM: 602279
HGNC: 8565
Ensembl: ENSG00000100836

Variants:

dbSNP: 8106
ClinVar: 8106
TCGA: ENSG00000100836
COSMIC: PABPN1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100836ENST00000216727Q86U42
ENSG00000100836ENST00000397276Q86U42
ENSG00000100836ENST00000555295H0YJH9
ENSG00000100836ENST00000556821G3V4T2
ENSG00000100836ENST00000557702B4DEH8

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
mRNA surveillance pathwayKEGGko03015
mRNA surveillance pathwayKEGGhsa03015
Influenza AKEGGko05164
Influenza AKEGGhsa05164
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
Influenza InfectionREACTOMER-HSA-168254
Host Interactions with Influenza FactorsREACTOMER-HSA-168253
NS1 Mediated Effects on Host PathwaysREACTOMER-HSA-168276
Inhibition of Host mRNA Processing and RNA SilencingREACTOMER-HSA-168315
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA 3'-end processingREACTOMER-HSA-72187
Processing of Capped Intronless Pre-mRNAREACTOMER-HSA-75067
Processing of Intronless Pre-mRNAsREACTOMER-HSA-77595

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
382449112024Dysregulation of RNA-Exosome machinery is directly linked to major cancer hallmarks in prostate cancer: Oncogenic role of PABPN1.0
382449112024Dysregulation of RNA-Exosome machinery is directly linked to major cancer hallmarks in prostate cancer: Oncogenic role of PABPN1.0
367545762023PABPN1 prevents the nuclear export of an unspliced RNA with a constitutive transport element and controls human gene expression via intron retention.4
373567222023The RNA-binding protein ZC3H11A interacts with the nuclear poly(A)-binding protein PABPN1 and alters polyadenylation of viral transcripts.2
374221932023PABPN1 aggregation is driven by Ala expansion and poly(A)-RNA binding, leading to CFIm25 sequestration that impairs alternative polyadenylation.1
367545762023PABPN1 prevents the nuclear export of an unspliced RNA with a constitutive transport element and controls human gene expression via intron retention.4
373567222023The RNA-binding protein ZC3H11A interacts with the nuclear poly(A)-binding protein PABPN1 and alters polyadenylation of viral transcripts.2
374221932023PABPN1 aggregation is driven by Ala expansion and poly(A)-RNA binding, leading to CFIm25 sequestration that impairs alternative polyadenylation.1
350258702022Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy.9
358947792022Novel read-through fusion transcript Bcl2l2-Pabpn1 in glioblastoma cells.5
361974692022Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.4
350258702022Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy.9
358947792022Novel read-through fusion transcript Bcl2l2-Pabpn1 in glioblastoma cells.5
361974692022Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.4
334670932021Regulation of Kv11.1 Isoform Expression by Polyadenylate Binding Protein Nuclear 1.4

Citation

Dessen P

PABPN1 (poly(A) binding protein nuclear 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41629/pabpn1