PABPN1

GENE INFORMATION

? »

Gene name

PABPN1 (HGNC Symbol)

Synonyms

OPMD, PAB2, PABP2

Description

Poly(A) binding protein, nuclear 1 (HGNC Symbol)

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]

Chromosome

14

Cytoband

q11.2

Chromosome location (bp)

23790498 - 23795394

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000100836 (version 75.37)

Entrez gene

8106

UniProt

Q86U42 (UniProt - Evidence at protein level)

neXtProt

NX_Q86U42

Antibodypedia

PABPN1 antibodies
 

PROTEIN VIEW

? »
 
 
 
PABPN1-001
 
PABPN1-003
 
PABPN1-004
 
PABPN1-006
 
PABPN1-009
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PABPN1-001 ENSP00000216727
ENST00000216727
Q86U42
Show all »
Show » Show » 306 32.7 No 0
PABPN1-003 ENSP00000380446
ENST00000397276
Q86U42
Show all »
Show » Show » 296 31.5 No 0
PABPN1-004 ENSP00000451970
ENST00000556821
G3V4T2
Show all »
Show » Show » 178 20.2 No 0
PABPN1-006 ENSP00000450724
ENST00000557702
B4DEH8
Show all »
Show » Show » 168 19 No 0
PABPN1-009 ENSP00000451592
ENST00000555295
Show » Show » 96 11 No 0