Pabpn1 poly(A) binding protein, nuclear 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pabpn1provided by MGI
Official Full Name: poly(A) binding protein, nuclear 1provided by MGI
Primary source: MGI:MGI:1859158
See related: Ensembl:ENSMUSG00000022194 AllianceGenome:MGI:1859158
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: PAB2; Pabp3; mPABII
Summary: Enables RNA polymerase binding activity. Involved in MAPK cascade; cellular response to lipopolysaccharide; and positive regulation of polynucleotide adenylyltransferase activity. Located in nucleus. Part of ribonucleoprotein complex. Is expressed in central nervous system; sensory organ; and thymus. Used to study oculopharyngeal muscular dystrophy. Human ortholog(s) of this gene implicated in oculopharyngeal muscular dystrophy. Orthologous to human PABPN1 (poly(A) binding protein nuclear 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in whole brain E14.5 (RPKM 169.0), CNS E14 (RPKM 167.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 C3; 14 27.98 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (55131600..55136384)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (54894143..54898927)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PABPN1 loss-of-function causes APA-shift in oculopharyngeal muscular dystrophy.
Title: PABPN1 loss-of-function causes APA-shift in oculopharyngeal muscular dystrophy.
The RNA-binding protein ZC3H11A interacts with the nuclear poly(A)-binding protein PABPN1 and alters polyadenylation of viral transcripts.
Title: The RNA-binding protein ZC3H11A interacts with the nuclear poly(A)-binding protein PABPN1 and alters polyadenylation of viral transcripts.
PABPN1 functions as a hub in the assembly of nuclear poly(A) domains that are essential for mouse oocyte development.
Title: PABPN1 functions as a hub in the assembly of nuclear poly(A) domains that are essential for mouse oocyte development.
We demonstrate that guanabenz acetate (GA) increases both the phosphorylation of the eukaryotic translation initiation factor 2alpha subunit and the splicing of Xbp1, key components of the UPR. Altogether these data show that modulation of protein folding regulation is beneficial for Oculopharyngeal muscular dystrophy (OPMD) and promote the further development of GA or its derivatives for treatment of OPMD in humans
Title: Pharmacological modulation of the ER stress response ameliorates oculopharyngeal muscular dystrophy.
results from our study support a model where altered protein interactions with alanine-expanded PABPN1 that lead to loss or gain of function could contribute to pathology in oculopharyngeal muscular dystrophy
Title: Proteomic analysis reveals that wildtype and alanine-expanded nuclear poly(A)-binding protein exhibit differential interactions in skeletal muscle.
Data show that a trans-acting factor, RNA binding protein HuR (HuR), which regulate poly(A) binding protein nuclear 1 (Pabpn1) expression specifically in mature muscle in vitro and in vivo.
Title: Post-transcriptional regulation of Pabpn1 by the RNA binding protein HuR.
PABPN1-17A gave rise to: inhibition of Ca2+ release during ECC, depletion of sarcoplasmic reticulum Ca2+ content, reduced expression of ryanodine receptors, altered nuclear morphology and incapability to stimulate myoblast fusion.
Title: Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1.
Matrin 3 (MATR3) is a novel protein interactor of PABPN1. MATR3 also binds and regulates the levels of long non-coding RNA (lncRNA) Neat1 and together with PABPN1 is required for normal paraspeckle function.
Title: Nuclear poly(A) binding protein 1 (PABPN1) and Matrin3 interact in muscle cells and regulate RNA processing.
Expression levels of these cytokines were highly correlated in controls, but this correlation pattern was disrupted in OPMD. The levels of these 6 cytokines were not altered in expPABPN1 carriers at a pre-symptomatic stage, suggesting that this group of cytokines is a potential biomarker for muscle weakness in OPMD.
Title: Cytokine genes as potential biomarkers for muscle weakness in OPMD.
educed PABPN1 levels caused a consistent decline in distal PAS utilization in the 3'-UTR of a subset of OPMD-dysregulated genes. This alternative PAS utilization led to up-regulation of Atrogin-1, a key muscle atrophy regulator, but down regulation of proteasomal genes. Additionally reduced PABPN1 levels caused a reduction in proteasomal activity, and transition in MyHC isotope expression pattern in myofibers.
Title: PABPN1-Dependent mRNA Processing Induces Muscle Wasting.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57254 (e-PCR)
- UniSTS:39544

Pabpn1 (e-PCR), detects polymorphism
- UniSTS:479189

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info	PubMed
enables nucleic acid binding	IEA Inferred from Electronic Annotation more info
enables poly(A) binding	IBA Inferred from Biological aspect of Ancestor more info
enables poly(A) binding	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to lipopolysaccharide	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in poly(A)+ mRNA export from nucleus	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of polynucleotide adenylyltransferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of mRNA 3'-end processing	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nuclear inclusion body	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed
part_of ribonucleoprotein complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: polyadenylate-binding protein 2

Names: PABII; PABP-2; nuclear poly(A)-binding protein 1; poly(A) binding protein II; poly(A)-binding protein 2; polyadenylate-binding nuclear protein 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_019402.2 → NP_062275.1 polyadenylate-binding protein 2

See identical proteins and their annotated locations for NP_062275.1

Status: VALIDATED

Source sequence(s)

AC116591, AK032172, BY266376

Consensus CDS

CCDS27104.1

UniProtKB/Swiss-Prot

O35935, Q8CCS6

UniProtKB/TrEMBL

G3UY42

Related

ENSMUSP00000022808.8, ENSMUST00000022808.14

Conserved Domains (2) summary

COG0724
Location:109 → 285

RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]

cd12550
Location:169 → 244

RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins