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

Gene ID: 8106, updated on 1-Jun-2020

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
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

Genomic context

See PABPN1 in Genome Data Viewer
Location:
14q11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (23320188..23326185)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23789397..23795394)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 3E Neighboring gene H3 histone pseudogene 37 Neighboring gene BCL2L2-PABPN1 readthrough Neighboring gene BCL2 like 2 Neighboring gene solute carrier family 22 member 17 Neighboring gene embryonal Fyn-associated substrate

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
RNA polymerase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA processing TAS
Traceable Author Statement
more info
PubMed 
cellular response to lipopolysaccharide ISS
Inferred from Sequence or Structural Similarity
more info
 
mRNA 3'-end processing TAS
Traceable Author Statement
more info
 
mRNA splicing, via spliceosome TAS
Traceable Author Statement
more info
 
modification by virus of host mRNA processing TAS
Traceable Author Statement
more info
 
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
poly(A)+ mRNA export from nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of polynucleotide adenylyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
termination of RNA polymerase II transcription TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
nuclear inclusion body IDA
Inferred from Direct Assay
more info
PubMed 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
polyadenylate-binding protein 2
Names
poly(A) binding protein 2
poly(A) binding protein II

NCBI Reference Sequences (RefSeq)

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

  1. NG_008239.1 RefSeqGene

    Range
    5001..10998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001360551.2NP_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:113289
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12550
    Location:173248
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins
  2. NM_001360552.1NP_001347481.1  polyadenylate-binding protein 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL049829
    Consensus CDS
    CCDS86375.1
    Related
    ENSP00000451970.1, ENST00000556821.5
    Conserved Domains (1) summary
    cd12550
    Location:45120
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins
  3. NM_004643.3NP_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, BC010939, BI830835, BM979311
    Consensus CDS
    CCDS9592.1
    UniProtKB/Swiss-Prot
    Q86U42
    Related
    ENSP00000216727.4, ENST00000216727.8
    Conserved Domains (2) summary
    COG0724
    Location:113289
    RRM; RNA recognition motif (RRM) domain [Translation, ribosomal structure and biogenesis]
    cd12550
    Location:173248
    RRM_II_PABPN1; RNA recognition motif in type II polyadenylate-binding protein 2 (PABP-2) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    23320188..23326185
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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