PABPN1 poly(A) binding protein nuclear 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PABPN1provided by HGNC
Official Full Name: poly(A) binding protein nuclear 1provided by HGNC
Primary source: HGNC:HGNC:8565
See related: Ensembl:ENSG00000100836 MIM:602279; AllianceGenome:HGNC:8565
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OPMD; PAB2; PABII; PABP2; PABP-2
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]
Expression: Ubiquitous expression in testis (RPKM 38.5), spleen (RPKM 30.3) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (23321457..23326163)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17522473..17527178)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23790666..23795372)

Chromosome 14 - NC_000014.9 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phosphorylation of the nuclear poly(A) binding protein (PABPN1) during mitosis protects mRNA from hyperadenylation and maintains transcriptome dynamics.
Title: Phosphorylation of the nuclear poly(A) binding protein (PABPN1) during mitosis protects mRNA from hyperadenylation and maintains transcriptome dynamics.
Dysregulation of RNA-Exosome machinery is directly linked to major cancer hallmarks in prostate cancer: Oncogenic role of PABPN1.
Title: Dysregulation of RNA-Exosome machinery is directly linked to major cancer hallmarks in prostate cancer: Oncogenic role of PABPN1.
PABPN1 aggregation is driven by Ala expansion and poly(A)-RNA binding, leading to CFIm25 sequestration that impairs alternative polyadenylation.
Title: PABPN1 aggregation is driven by Ala expansion and poly(A)-RNA binding, leading to CFIm25 sequestration that impairs alternative polyadenylation.
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 prevents the nuclear export of an unspliced RNA with a constitutive transport element and controls human gene expression via intron retention.
Title: PABPN1 prevents the nuclear export of an unspliced RNA with a constitutive transport element and controls human gene expression via intron retention.
Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Title: Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy.
Novel read-through fusion transcript Bcl2l2-Pabpn1 in glioblastoma cells.
Title: Novel read-through fusion transcript Bcl2l2-Pabpn1 in glioblastoma cells.
Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy.
Title: Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy.
Regulation of Kv11.1 Isoform Expression by Polyadenylate Binding Protein Nuclear 1.
Title: Regulation of Kv11.1 Isoform Expression by Polyadenylate Binding Protein Nuclear 1.
PABPN1, a Target of p63, Modulates Keratinocyte Differentiation through Regulation of p63alpha mRNA Translation.
Title: PABPN1, a Target of p63, Modulates Keratinocyte Differentiation through Regulation of p63α mRNA Translation.

Submit: New GeneRIF Correction See all GeneRIFs (71)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Oculopharyngeal muscular dystrophy 1 MedGen: CN376802 OMIM: 164300 GeneReviews: Oculopharyngeal Muscular Dystrophy	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Tandem affinity purification and mass spectrometry analysis identify poly(A) binding protein nuclear 1 (PABPN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Gag-Pol	gag-pol	Tandem affinity purification and mass spectrometry analysis identify poly(A) binding protein nuclear 1 (PABPN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Nef	nef	Tandem affinity purification and mass spectrometry analysis identify poly(A) binding protein nuclear 1 (PABPN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed
Pr55(Gag)	gag	Tandem affinity purification and mass spectrometry analysis identify poly(A) binding protein nuclear 1 (PABPN1), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65111 (e-PCR)
- UniSTS:92478

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

MARC_26170-26171:1030649367:1 (e-PCR)
- UniSTS:268968

RH47139 (e-PCR)
- UniSTS:35763

PABPN (e-PCR)
- UniSTS:266224

Readthrough BCL2L2-PABPN1

Readthrough gene: BCL2L2-PABPN1, Included gene: BCL2L2

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA polymerase binding	ISS Inferred from Sequence or Structural Similarity more info
enables poly(A) binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in MAPK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in RNA processing	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to lipopolysaccharide	ISS Inferred from Sequence or Structural Similarity more info
involved_in mRNA processing	IEA Inferred from Electronic Annotation more info
involved_in muscle contraction	TAS Traceable Author Statement more info	PubMed
involved_in poly(A)+ mRNA export from nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of polynucleotide adenylyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nuclear inclusion body	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement 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
part_of ribonucleoprotein complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: polyadenylate-binding protein 2

Names: poly(A) binding protein 2; poly(A) binding protein II

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.

Genomic

NG_008239.1 RefSeqGene

Range

6270..10976

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001360551.3 → NP_001347480.1 polyadenylate-binding protein 2 isoform 2

Status: REVIEWED

Source sequence(s)

AL049829, BG496896, BM979311, BX247976

Consensus CDS

CCDS86374.1

Related

ENSP00000380446.2, ENST00000397276.6

Conserved Domains (2) summary

COG0724
Location:113 → 289

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

cd12550
Location:173 → 248

RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins
NM_001360552.2 → NP_001347481.1 polyadenylate-binding protein 2 isoform 3

Status: REVIEWED

Source sequence(s)

AL049829

Consensus CDS

CCDS86375.1

UniProtKB/TrEMBL

G3V4T2

Related

ENSP00000451970.1, ENST00000556821.5

Conserved Domains (1) summary

cd12550
Location:45 → 120

RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins
NM_004643.4 → NP_004634.1 polyadenylate-binding protein 2 isoform 1

See identical proteins and their annotated locations for NP_004634.1

Status: REVIEWED

Source sequence(s)

AL049829

Consensus CDS

CCDS9592.1

UniProtKB/Swiss-Prot

D3DS49, O43484, Q86U42

Related

ENSP00000216727.4, ENST00000216727.9

Conserved Domains (2) summary

COG0724
Location:113 → 289

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

cd12550
Location:173 → 248

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