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Aliases &
Descriptions
for PABPN1
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases |
|---|
| OPMD 2 | | PAB2 1, 2, 3, 5 | | PABII 3 | | PABP2 2, 3, 5 |
| | | Descriptions |
|---|
| Nuclear poly(A)-binding protein 1 3 | | Poly(A)-binding protein 2 3 | | Poly(A)-binding protein II 3 | | Polyadenylate-binding nuclear protein 1 3 | | poly(A) binding protein 2 2 | | poly(A) binding protein II 2 | | poly(A) binding protein, nuclear 1 2 | | poly(A)-binding protein, nuclear 1 1 |
|
| |
Search outside databases for aliases for PABPN1 genePrevious GC identifers: GC14U990066 GC14P017576 GC14P021779 |
Summaries
for PABPN1(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for PABPN1:
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 on
the 3' ends of eukaryotic genes 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. An expansion of the trinucleotide (GCG) repeat from normal 6 to
8-13 at the 5' end of the coding region of this gene leads to autosomal dominant
oculopharyngeal muscular dystrophy (OPMD) disease. Multiple splice variants have been described
but their full-length nature is not known. One splice variant includes introns 1 and 6 but no
protein is formed. [provided by RefSeq]
UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42Function: Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a
poly(A) tail of 200-250 nt to the upstream cleavage product. Stimulates poly(A) polymerase
(PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the
poly(A) tail length. Increases the affinity of poly(A) polymerase for RNA. Is also present at
various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated
decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription
through MYOD1 and may regulate the expression of muscle-specific genes. Binds to poly(A) and to
poly(G) with high affinity. May protect the poly(A) tail from degradation (By similarity)Gene Wiki entry for PABPN1 |
Genomic Location
for PABPN1
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences)
About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
 Transcription factor binding sites upstream to the PABPN1 gene 
Entrez Gene cytogenetic band: 14q11.2-q13 Ensembl cytogenetic band: 14q11.2 HGNC cytogenetic band: 14q11.2-q13PABPN1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure GeneLoc location for GC14P022859:
(about GC identifiers)
Start:
|
22,859,237 bp from pter |
End:
|
22,865,212 bp from pter |
Size:
|
5,976 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000014.7 NT_026437.11
| Proteins
for PABPN1
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42 (See
protein sequence)Recommended Name: Polyadenylate-binding protein 2 Size: 306 amino acids; 32749 Da
Subunit: Monomer and homooligomer. Binds RNA as a monomer and oligomerizes when bound to poly(A).
Interacts with PAPOLA, but only in presence of oligo(A) RNA. Interacts with transportin (By
similarity). Association in a ternary complex with CPSF4 and influenza A virus NS1 blocks
pre-mRNAs processing, thereby preventing nuclear export of host cell mRNAs. Associates in a single
complex with SKIP and MYOD1 and interacts with SKIP in differentiated myocytes. Interacts with
NUDT21/CPSF5
Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity). Note=Shuttles between the
nucleus and the cytoplasm but predominantly found in the nucleus. Its nuclear import may involve
the nucleocytoplasmic transport receptor transportin and a RAN-GTP-sensitive import mechanism. Is
exported to the cytoplasm by a carrier-mediated pathway that is independent of mRNA traffic.
Nucleus; nuclear speckle. Colocalizes with SKIP and poly(A) RNA in nuclear speckles (By
similarity)
Miscellaneous: Intranuclear filamentous inclusions or "aggregates" are detected in the myocytes of
patients; these inclusions contain PABPN1, ubiquitin, subunits of the proteasome and poly(A) RNA.
The association of the expanded polyalanine mutations together with the capability to oligomerize
may induce these inclusions and cell death. Expanded polyalanine mutations may either result from
unequal crossing over during germ cell homologous recombination or from DNA slippage. The
pathogenic mechanisms mediated by polyalanine expansion mutations may be either a general
disruption of cellular RNA metabolism due to the trapping by the inclusions of PABPN1, mRNAs
and/or nuclear proteins, resulting in the induction of cell death; or may change the normal muscle
cell differentiation
PDB structure from  and Proteopedia  :3B4D (3D)
3B4M (3D)
Secondary accessions: O43484Alternative splicing: 2 isoforms: Q86U42-1 Q86U42-2 Post-translational modifications:
Arginine dimethylation is asymmetric and involves PRMT1 and PRMT3. It does not influence the RNA
binding properties (By similarity)1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_004634.1
ENSEMBL proteins: ENSP00000216727 ENSP00000380446
Human Recombinant Proteins  Browse Origene for full length recombinant human proteins expressed in human HEK293 cells
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for PABPN1:
Assays for PABPN1: | Protein
Domains/
Families
for PABPN1(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q86U42
ProtoNet protein and cluster: Q86U42 UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42Domain: The RRM domain is essential for specific adenine bases recognition in the poly(A) tail but
not sufficient for poly(A) binding (By similarity)Similarity: Contains 1 RRM (RNA recognition motif) domain | Gene Function
for PABPN1
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004643
 Applied Biosystems Silencer® siRNAs for PABPN1
 Sigma-Aldrich siRNA and siRNA Panels for PABPN1
Sigma-Aldrich shRNA for PABPN1
Explore Sigma-Aldrich super-pooled esiRNAs
OriGene GFP tagged cDNA clone in CMV expression vector: NM_004643
Myc/DDK tagged cDNA clone in CMV expression vector: NM_004643
untagged cDNA clones in CMV expression vector (see all 2): NM_004643
Primers:  Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
OriGene genome-wide validated SYBR primer pairs: NM_004643
UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42Function: Involved in the 3'-end formation of mRNA precursors (pre-mRNA) by the addition of a
poly(A) tail of 200-250 nt to the upstream cleavage product. Stimulates poly(A) polymerase
(PAPOLA) conferring processivity on the poly(A) tail elongation reaction and controls also the
poly(A) tail length. Increases the affinity of poly(A) polymerase for RNA. Is also present at
various stages of mRNA metabolism including nucleocytoplasmic trafficking and nonsense-mediated
decay (NMD) of mRNA. Cooperates with SKIP to synergistically activate E-box-mediated transcription
through MYOD1 and may regulate the expression of muscle-specific genes. Binds to poly(A) and to
poly(G) with high affinity. May protect the poly(A) tail from degradation (By similarity)Genatlas biochemistry entry for PABPN1:poly (A) binding protein,nuclear 1,with a 5' polymorphic,unstable GCG (alanine) repeat,amplified in
oculopharyngeal muscular dystrophy (OPMD)3 Gene Ontology (GO) molecular function terms (links to tree view): About this table | Pathways & Interactions
for PABPN1
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for PABPN1
5/125 Interacting proteins for PABPN1 (ENSP000002167273 Q86U422) via UniProtKB, MINT, and/or STRING (see all 125
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds
for PABPN1(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for PABPN1
|
Transcripts
for PABPN1(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene,
Expression Assays from Applied Biosystems)
About This Section
| OriGene 29mer shRNA kit in GFP-retroviral vector: NM_004643
Sigma-Aldrich siRNA and siRNA Panels for PABPN1
Sigma-Aldrich shRNA for PABPN1
Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer® siRNAs: NM_004643 REFSEQ mRNAs for PABPN1 gene: NM_004643.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_004643
OriGene GFP tagged cDNA clone in CMV expression vector: NM_004643
Myc/DDK tagged cDNA clone in CMV expression vector: NM_004643
untagged cDNA clones in CMV expression vector (see all 2): NM_004643
Additional cDNA sequence: AK293633.1 BC010939.1 BX247976.1 CR591896.1 CR592559.1 CR613466.1 CR613703.1 CR615102.1 CR618592.1 24/32 DOTS entries (see all 32
): DT.75124939 DT.95226292 DT.95094632 DT.100753318 DT.454383 DT.100819143 DT.100806817 DT.100840184 DT.95159574 DT.100803510 DT.99949443 DT.100653661 DT.92458982 DT.100819148 DT.100677081 DT.100819152 DT.99983403 DT.100819153 DT.121285790 DT.95094633 DT.100819146 DT.100819147 DT.91827209 DT.91832503 24/631 AceView cDNA sequences (see all 631
):CR618592 AA194030 AA741032 BM699328 BX354963 AI796974 BQ648395 CA487884 AA338047 AI359935 BU628303 BM128122 AI279367 BG698005 BX247976 BM991929 BM920237 AI537656 AA557539 CD678971 BM718927 BE300750 AI681621 BX420009
 highest scoring ESTs for PABPN1:AA040742 AA043440 AA084288 AA412599 AA412600 AA425663 AA558784 AA683202 AA760998 AA827488 Unigene Cluster for PABPN1: Poly(A) binding protein, nuclear 1 Hs.707712 [show with all ESTs]Unigene Representative Sequence: NM_004643
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for PABPN1
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b |
|---|
|
| SP1: | | | | | | | | | | | - | | | | | | |
| SP2: | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for PABPN1
2 Ensembl transcripts including schematic representations: ENST00000216727
ENST00000397276
|
Expression
for PABPN1
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| PABPN1 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for PABPN1
1 / 2 / 3 7 probe-sets matching PABPN1 gene Data from
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: GTATTCCCCT
SOURCE GeneReport for Unigene cluster: Hs.707712
Expression variation in blood from EXPOLDB for PABPN1 UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42Tissue specificity: Ubiquitous |
Orthologs
for PABPN1
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for PABPN1 gene from 5/16 species (see all 16
)
About this table Species with no ortholog for PABPN1
ENSEMBL Gene Tree for PABPN1 | Paralogs
for PABPN1(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for PABPN1 gene
- ENSG000002050222
|
SNPs/Variants
for PABPN1(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42Polymorphism: The poly-Ala region of PABPN1 is polymorphic (6-7 repeats) in the population and is
expanded to 8-13 repeats in OPMD patients. Compound heterozygotes for (GCG)9 mutation and a (GCG)7
allele result in earlier onset and more severe clinical manifestations of the disease
HapMap Linkage Disequilibrium images for PABPN1 (up to first 250kb)
|
Disorders & Mutations
for PABPN1
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 602279 disorders: 164300 UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42
Defects in PABPN1 are the cause of oculopharyngeal muscular dystrophy (OPMD) [MIM:164300].
OPMD is a form of late-onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia
and, sometimes by other cranial and limb-muscle involvement7  Novoseek disease relationships for PABPN1 gene
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| muscular dystrophy oculopharyngeal |
99.09 |
55 |
17418585 (2), 15150706 (2), 15755682 (2), 11079546 (2) (see all 45) |
| dysphagia |
76.93 |
7 |
15150706 (1), 16481821 (1), 9585341 (1), 11689481 (1) (see all 5) |
| blepharoptosis |
61.37 |
4 |
12355844 (1), 15725589 (1) |
| myopathy |
60.07 |
2 |
11139982 (1), 11712939 (1) |
| muscular dystrophies |
55.46 |
3 |
9392020 (1), 12944420 (1), 9585341 (1) |
| neuromuscular diseases |
37.56 |
1 |
11003790 (1) |
| neurodegenerative diseases |
12.88 |
1 |
11001936 (1) |
About this table
GeneTests: PABPN1
Oculopharyngeal Muscular Dystrophy
Human Gene Mutation Database: PABPN1
Genetic Association Database: PABPN1
Human Genome Epidemiology Navigator: PABPN1 (1 document)
|
Medical News
for PABPN1(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for PABPN1 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/99 PubMed articles for PABPN1 gene (see all 99
):- The product of an oculopharyngeal muscular dystrophy gene, poly(A)- binding protein 2, interacts with SKIP and stimulates muscle-specific gene expression. (PubMed id 11371506)1, 3, 4 Kim Y.-J....Arahata K. (2001)
- Oligomerization of polyalanine expanded PABPN1 facilitates nuclear protein aggregation that is associated with cell death. (PubMed id 11689481)1, 3, 4 Fan X.... Rouleau G.A. (2001)
- Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. (PubMed id 12673802)1, 3, 4 van der Sluijs B.M.... Hoefsloot L.H. (2003)
- Deciphering the cellular pathway for transport of poly(A)-binding protein II. (PubMed id 10688363)1, 3, 4 Calado A.... Carmo-Fonseca M. (2000)
- Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. (PubMed id 11001936)1, 3, 4 Calado A....Carmo-Fonseca M. (2000)
- Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. (PubMed id 9462747)1, 3, 4 Brais B.... Rouleau G.A. (1998)
- Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. (PubMed id 11222452)1, 3, 6 Hill M.E....Hammans S.R. (2001)
- Distinct sequence motifs within the 68-kDa subunit of cleavage factor Im mediate RNA binding, protein-protein interactions, and subcellular localization. (PubMed id 15169763)3, 4 Dettwiler S.... Barabino S.M. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- An aggregate-prone conformational epitope in trinucleotide repeat diseases. (PubMed id 14663186)3, 4 Sugaya K.... Hayashi H. (2003)
|
Search for PABPN1
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing PABPN1
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing PABPN1
(According to HUGE)
About This Section
| -- |
Specialized Databases showing PABPN1(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| About This Section
| --
| Services
for PABPN1(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section
| 
Products for PABPN1:
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