InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PABPN1

Summary

InnateDB Gene

IDBG-3173.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PABPN1

Gene Name

poly(A) binding protein, nuclear 1

Synonyms

OPMD; PAB2; PABII; PABP-2; PABP2

Species

Homo sapiens

Ensembl Gene

ENSG00000100836

Encoded Proteins

IDBP-3175

poly(A) binding protein, nuclear 1

IDBP-235708

poly(A) binding protein, nuclear 1

IDBP-597304

poly(A) binding protein, nuclear 1

IDBP-595932

poly(A) binding protein, nuclear 1

IDBP-585122

poly(A) binding protein, nuclear 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 14:23321289-23326185

Strand

Forward strand

Band

q11.2

Transcripts

ENST00000216727	ENSP00000216727
ENST00000397276	ENSP00000380446
ENST00000556821	ENSP00000451970
ENST00000556809
ENST00000557702	ENSP00000450724
ENST00000554062
ENST00000553960
ENST00000555295	ENSP00000451592

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.

Experimentally validated
Total	36 [view]
Protein-Protein	34 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000166	nucleotide binding
GO:0003676	nucleic acid binding
GO:0003723	RNA binding
GO:0005515	protein binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0000398	mRNA splicing, via spliceosome
GO:0006366	transcription from RNA polymerase II promoter
GO:0006369	termination of RNA polymerase II transcription
GO:0006396	RNA processing
GO:0006936	muscle contraction
GO:0008380	RNA splicing
GO:0010467	gene expression
GO:0016973	poly(A)+ mRNA export from nucleus
GO:0019048	modulation by virus of host morphology or physiology
GO:0019054	modulation by virus of host process
GO:0019058	viral life cycle
GO:0031124	mRNA 3'-end processing
GO:0046778	modification by virus of host mRNA processing