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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PABPN1 Gene

protein-coding GIFtS: 65
GCID: GC14P023789

poly(A) binding protein, nuclear 1

(Previous names: poly(A)-binding protein, nuclear 1 )
(Previous symbols: OPMD, PABP2)

Explore 18 diseases affiliated with
PABPN1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Poly(A) Binding Protein, Nuclear 1¹ ²		Poly(A) Binding Protein 2²
PAB2¹ ² ³ ⁵		Poly(A) Binding Protein II²
PABP2¹ ² ³ ⁵		Polyadenylate-Binding Protein 2²
OPMD¹ ²		Nuclear Poly(A)-Binding Protein 1³
PABII² ³		Poly(A)-Binding Protein 2³
PABP-2² ³		Poly(A)-Binding Protein II³
Poly(A)-Binding Protein, Nuclear 1¹		Polyadenylate-Binding Nuclear Protein 1³

External Ids:	HGNC: 8565¹	Entrez Gene: 8106²	Ensembl: ENSG00000100836⁷	OMIM: 602279⁵	UniProtKB: Q86U42³

Export aliases for PABPN1 gene to outside databases

Previous GC identifers: GC14U990066 GC14P017576 GC14P021779 GC14P022859 GC14P003905

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene 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 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)

UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42

Function: 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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PABPN1 gene promoter:
E2F-3a STAT1 E2F E2F-1 Sp1 MyoD E2F-2 c-Ets-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PABPN1 promoter sequence

Search SABiosciences Chromatin IP Primers for PABPN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PABPN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q11.2 Ensembl cytogenetic band: 14q11.2 HGNC cytogenetic band: 14q11.2

PABPN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PABPN1 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P023789: view genomic region (about GC identifiers)

Start:	23,789,397 bp from pter	End:	23,795,394 bp from pter
Size:	5,998 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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). Identified in a mRNP granule

complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU,

HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP,

TROVE2, YBX1 and untranslated mRNAs. 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. Note=Localized in cytoplasmic mRNP granules containing

untranslated mRNAs. 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

Sequence caution: Sequence=CAD62310.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

3 PDB 3D structures from and Proteopedia for PABPN1:

3B4D (3D)

3B4M (3D)

3UCG (3D)

Secondary accessions: D3DS49 O43484

Alternative splicing: 3 isoforms: Q86U42-1 Q86U42-2 Q92843-2 (Based on a readthrough transcript which may produce a BCL2L2-PABPN1 fusion protein. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PABPN1: NX_Q86U42

Post-translational modifications:

Arginine dimethylation is asymmetric and involves PRMT1 and PRMT3. It does not influence the RNA binding properties (By

similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q86U42

PABPN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_004634.1

ENSEMBL proteins:

ENSP00000216727 ENSP00000380446 ENSP00000451970 ENSP00000450724 ENSP00000451592

Reactome Protein details: Q86U42
Human Recombinant Protein Products for PABPN1:

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	Uscn Proteins for PABPN1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005654	nucleoplasm	TAS	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0030529	ribonucleoprotein complex	IDA	17289661

PABPN1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for PABPN1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PABPN1 for domains About GeneDecksing

2 InterPro domains/families:

IPR012677 Nucleotide-bd_a/b_plait

IPR000504 RRM_dom

Graphical View of Domain Structure for InterPro Entry Q86U42

ProtoNet protein and cluster: Q86U42

UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42

Domain: 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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: PABP2_HUMAN, Q86U42

Function: 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)

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0003676	nucleic acid binding	--	--
GO:0003723	RNA binding	IEA	--
GO:0005515	protein binding	IPI	11371506

PABPN1 for ontologies About GeneDecksing

Animal Models:

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		hsa-miR-144 hsa-miR-525-5p hsa-miR-642b hsa-miR-520a-5p hsa-miR-3182 hsa-miR-1248
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PABPN1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

RNA Polymerase II Transcription Termination

RNA Polymerase II Transcription Termination	1.00	Post-Elongation Processing of Intron-Containing pre-mRNA	0.79
Post-Elongation Processing of the Transcript	1.00	mRNA 3'-end processing	0.79
Cleavage of Growing Transcript in the Termination Region	1.00

mRNA Splicing - Major Pathway

mRNA Splicing	1.00	mRNA Processing	0.82
mRNA Splicing - Major Pathway	1.00	mRNA processing	0.48
Processing of Capped Intron-Containing Pre-mRNA	0.96

NS1 Mediated Effects on Host Pathways

	NS1 Mediated Effects on Host Pathways	1.00			Host Interactions with Influenza Factors	0.60
	Inhibition of Host mRNA Processing and RNA Silencing	0.67

Post-Elongation Processing of Intronless pre-mRNA

	Processing of Capped Intronless Pre-mRNA	1.00			Processing of Intronless Pre-mRNAs	0.61
	Post-Elongation Processing of Intronless pre-mRNA	1.00

Transcription

Transcription

1.00

RNA Polymerase II Transcription

0.69

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for PABPN1

mRNA processing

5/20 Reactome Pathways for PABPN1 (see all 20)

	mRNA Splicing
	RNA Polymerase II Transcription
	Inhibition of Host mRNA Processing and RNA Silencing
	Cleavage of Growing Transcript in the Termination Region
	Disease

2 Kegg Pathways (Kegg details for PABPN1):

	mRNA surveillance pathway
	Influenza A

PABPN1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PABPN1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/633 Interacting proteins for PABPN1 (Q86U42^{1, 2, 3} ENSP00000216727⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 633)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SNW1	Q13573¹^,²^,³, ENSP00000261531⁴	EBI-1226435,EBI-632715 MINT-7945693 I2D: score=2 STRING: ENSP00000261531
YWHAZ	P63104²^,³	MINT-3297301 I2D: score=1
HNRNPA1	P09651²^,³, ENSP00000341826⁴	MINT-7945693 I2D: score=1 STRING: ENSP00000341826
TARDBP	Q13148²^,³, ENSP00000240185⁴	MINT-7945693 I2D: score=1 STRING: ENSP00000240185
CPSF1	Q10570², ENSP00000339353⁴	MINT-7945693 MINT-8286464 STRING: ENSP00000339353

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000398	mRNA splicing, via spliceosome	TAS	--
GO:0006366	transcription from RNA polymerase II promoter	TAS	--
GO:0006369	termination of RNA polymerase II transcription	TAS	--
GO:0006396	RNA processing	TAS	9462747
GO:0006397	mRNA processing	TAS	--

PABPN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PABPN1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

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Browse Tocris compounds for PABPN1

1 HMDB Compound for PABPN1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

5 Novoseek chemical compound relationships for PABPN1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alanine	74.1	77	18367172 (4), 16642034 (3), 11689481 (3), 19641605 (3) (see all 40)
adenylate	71.2	49	10825302 (6), 16198293 (4), 15755682 (2), 11371506 (2) (see all 25)
glutamine	39.2	1	11001936 (1)
arginine	2.34	4	19641605 (1), 11003790 (1), 15473865 (1)
creatinine	0.0361	1	16378590 (1)

Search CenterWatch for drugs/clinical trials and news about PABPN1 / PABP2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PABPN1 gene:

NM_004643.3

Unigene Cluster for PABPN1:

Poly(A) binding protein, nuclear 1

Hs.707712 [show with all ESTs]

Unigene Representative Sequence: NM_004643

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000216727(uc001wjh.4 uc001wjk.3) ENST00000397276(uc001wjj.3)

ENST00000556821 ENST00000556809 ENST00000557702 ENST00000554062 ENST00000553960

ENST00000555295

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Additional cDNA sequence:

AK293633.1 BC010939.1 BX247976.1

24/33 DOTS entries (see all 33):

DT.75124939 DT.95094632 DT.95226292 DT.100753318 DT.454383 DT.100840184 DT.100819143 DT.100806817

DT.99949443 DT.95159574 DT.100803510 DT.100653661 DT.92458982 DT.100819148 DT.100677081 DT.100819152

DT.95094628 DT.99983403 DT.100819153 DT.121285790 DT.100819146 DT.100819147 DT.91827209 DT.91832503

24/631 AceView cDNA sequences (see all 631):

AI493697 AI335949 CD678971 BQ024377 AA931492 BU730152 BM718927 BG153452

BQ647068 CR592559 CD678801 AW297018 BM991929 BG698005 AA194030 AI755272

BM127838 CA306227 BU621314 BE044589 BX354963 BM669990 BE297531 BM452245

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for PABPN1 About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4a	·	4b	^	5a	·	5b
SP1:											-
SP2:

ECgene alternative splicing isoforms for PABPN1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PABPN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTATTCCCCT

About this image

PABPN1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Head Mesenchyme

Branchial Arch 1

Paraxial Mesoderm Cells

Bone, Skeletal Muscle

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PABPN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PABPN1

SOURCE GeneReport for Unigene cluster: Hs.707712

UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42

Tissue specificity: Ubiquitous

SABiosciences Custom PCR Arrays for PABPN1

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for PABPN1 gene from 8/30 species (see all 30) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Pabpn1^{1 , 5}	poly(A) binding protein, nuclear 1^{1, 5}	94.59(n)¹ 98.01(a)¹		14 (27.98 cM)⁵ 54196¹ NM_019402.2¹ NP_062275.1¹ 54892500⁵
lizard (Anolis carolinensis)	Reptilia	--	--	71(a)	1 → many	GL343680.1(251270-259901)
African clawed frog (Xenopus laevis)	Amphibia	BC045063.1²	--	79.36(n)		BC045063.1
zebrafish (Danio rerio)	Actinopterygii	CA475419.1²	--	80.34(n)		CA475419.1
fruit fly (Drosophila melanogaster)	Insecta	Pabp2^{1 , 3}	mRNA polyadenylation RNA binding³ CG2163-PA¹	72(a)³ 61.86(n)¹ 61.69(a)¹		35788¹ NM_057554.3¹ NP_476902.1¹
worm (Caenorhabditis elegans)	Secernentea	C17E4.5³ pabp-2¹	RNA binding protein (RNP like)³ Protein PABP-2¹	60(a)³ 56.76(n)¹ 56.22(a)¹		I(9429044-9430219)³ 172768¹ NM_060103.3¹ NP_492504.1¹
thale cress (Arabidopsis thaliana)	eudicotyledons	PABN1¹	polyadenylate-binding protein 1	55.16(n) 51.79(a)		835186 NM_124491.2 NP_568751.1
rice (Oryza sativa)	Liliopsida	-- -- (see all 5)	RNA recognition motif containing protein, putative... RNA recognition motif containing protein, putative... (see all 5)	9(a) 8(a) (see all 5)	possible ortholog possible ortholog (see all 5)	4(13812305-13820931) 4(23430915-23438759)

ENSEMBL Gene Tree for PABPN1 (if available)
TreeFam Gene Tree for PABPN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for PABPN1 gene

BCL2L2-PABPN1² PABPN1L²

3 SIMAP similar genes for PABPN1 using alignment to 4 protein entries: PABP2_HUMAN (see all proteins):

PABPN1L SRSF2 SLIRP

PABPN1 for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for PABPN1
PGOHUM00000261887 PGOHUM00000261944 PGOHUM00000261947

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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UniProtKB/Swiss-Prot: PABP2_HUMAN, Q86U42

Polymorphism: 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

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894466^1,2	C	pathogenic	23790713(+)	`AGCGGC/GGGCTG`	3	A G	mis¹ int¹		0	--	--	--	--
rs188800716^1,2		--	23787446(+)	`TCGCGA/GTCTTG`	2	--	int¹ us2k¹		0	--	--	--	--
rs151012100^1,2		--	23787620(+)	`TAGGTA/GATCCA`	2	--	int¹ us2k¹		0	--	--	--	--
rs193034925^1,2		--	23787756(+)	`TTATGA/GTTCAC`	2	--	int¹ us2k¹		0	--	--	--	--
rs115172947^1,2	F	--	23787805(+)	`AGGCAC/AACGCC`	2	--	us2k¹ int¹		1		WA	118
rs140869041^1,2		--	23787936(+)	`CTGGCC/TTTAAG`	2	--	int¹ us2k¹		0	--	--	--	--
rs150092544^1,2		--	23787950(+)	`CTCACC/TATTTT`	2	--	us2k¹ int¹		0	--	--	--	--
rs1955559^1,2	C,F,H	--	23787967(+)	`TTTTGG/ATATAT`	2	--	int¹ us2k¹		17		NS EA NA WA CSA	797
rs138646720^1,2		--	23787992(+)	`GAAAGA/GTTGTA`	2	--	us2k¹ int¹		0	--	--	--	--
rs10152077^1,2	C,H	--	23788038(+)	`TTTTTA/TAAAAA`	2	--	int¹ us2k¹		5		NS EA WA	516

HapMap Linkage Disequilibrium report for PABPN1 (23789397 - 23795394 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PABPN1: --
Human Gene Mutation Database (HGMD): PABPN1

Locus Specific Mutation Databases (LSDB): PABPN1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PABPN1 for disorders           About GeneDecksing

OMIM gene information: 602279
OMIM 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 involvement

18 diseases for PABPN1: About MalaCards

oculopharyngeal muscular dystrophy muscular dystrophy hereditary neuropathy with liability to pressure palsy hereditary neuropathy with liability to pressure palsies

hereditary neuropathies neuromuscular disease amyotrophic lateral sclerosis lateral sclerosis

exophthalmos neurodegenerative disease neuropathy ptosis

myopathy twinning pharyngitis influenza

malaria neuronitis

3 diseases from the University of Copenhagen DISEASES database for PABPN1:

Exophthalmos Neuropathy Myopathy

7 Novoseek disease relationships for PABPN1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
muscular dystrophy oculopharyngeal	99.1	58	17418585 (2), 15150706 (2), 15755682 (2), 11079546 (2) (see all 47)
dysphagia	76.9	7	15150706 (1), 16481821 (1), 9585341 (1), 11689481 (1) (see all 5)
myopathy	60.8	2	11139982 (1), 11712939 (1)
blepharoptosis	59.7	4	12355844 (1), 15725589 (1)
muscular dystrophies	53.9	3	9392020 (1), 12944420 (1), 9585341 (1)
neuromuscular diseases	49.6	1	11003790 (1)
neurodegenerative diseases	9.69	1	11001936 (1)

GeneTests: PABPN1

Oculopharyngeal Muscular Dystrophy

Genetic Association Database (GAD): PABPN1
Human Genome Epidemiology (HuGE) Navigator: PABPN1 (2 documents)

Export disorders for PABPN1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for PABPN1 gene, integrated from 9 sources (see all 135):
(articles sorted by number of sources associating them with PABPN1)

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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, 2, 9} 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, 2, 9} Fan X.... Rouleau G.A. (2001)
Oculopharyngeal muscular dystrophy (OPMD) due to a small duplication in the PABPN1 gene. (PubMed id 12673802)^{1, 2, 9} 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, 2, 9} 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, 2, 9} Calado A....Carmo-Fonseca M. (2000)
Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. (PubMed id 9462747)^{1, 2, 9} Brais B.... Rouleau G.A. (1998)
Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. (PubMed id 11222452)^{1, 4, 9} Hill M.E....Hammans S.R. (2001)
Molecular composition of IMP1 ribonucleoprotein granules. (PubMed id 17289661)^{1, 2} Joeson L.... Nielsen F.C. (2007)
Distinct sequence motifs within the 68-kDa subunit of cleavage factor Im mediate RNA binding, protein-protein interactions, and subcellular localization. (PubMed id 15169763)^{1, 2} 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)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8106	HGNC: 8565	AceView: BCL2L2andPABPN1	Ensembl:ENSG00000100836	euGenes: HUgn8106
ECgene: PABPN1	Kegg: 8106	H-InvDB: PABPN1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PABPN1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PABPN1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PABPN1

Intellectual Property for PABPN1 gene
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Patent Information for PABPN1 gene:
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GeneCards and IP:
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PABPN1 Gene

poly(A) binding protein, nuclear 1

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PABPN1 Gene

poly(A) binding protein, nuclear 1

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