PABPN1 - poly(A) binding protein nuclear 1 Gene

Also Known as OPMD; PAB2; PABII; PABP2; PABP-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8106

About PABPN1

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:23,321,457-23,326,163 (from NCBI)

This gene has 8 transcripts (splice variants), 220 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 38.5), spleen (RPKM 30.3) and 25 other tissues.

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]

PABPN1 Products (3)

mRNA	Protein	Name
NM_001360551.3	NP_001347480.1	polyadenylate-binding protein 2 isoform 2
NM_001360552.2	NP_001347481.1	polyadenylate-binding protein 2 isoform 3
NM_004643.4	NP_004634.1	polyadenylate-binding protein 2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	11371506	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in poly(A)+ mRNA export from nucleus	IMP IMP: Inferred from mutant phenotype	19364924	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nuclear inclusion body	IDA IDA: Inferred from direct assay	27209344	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19364924	GOA
part of ribonucleoprotein complex	IDA IDA: Inferred from direct assay	17289661	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PABPN1 Protein Structure

RRM_1

0
100
200
306 a.a.

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

PABPN1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PABPN1	Q86U42	SNW1	Homo sapiens	Q13573	Anti Tag CoIP	11371506
Intra	PABPN1	Q86U42	SNW1	Homo sapiens	Q13573	Pull Down	11371506
Intra	PABPN1	Q86U42	SNW1	Homo sapiens	Q13573	Y2H	11371506
Intra	PABPN1	Q86U42	PABPC1	Homo sapiens	P11940	Anti Tag CoIP	23665581

Cross: Cross-species interaction Intra: Intraspecies interaction

PABPN1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81776	PABPN1 Antibody (YA1521)	WB, IHC-F, IHC-P, ICC/IF, FC, IP	Human, Mouse, Rat
HY-P81776A	PABPN1 Antibody (YA1521)(PBS only)	WB, IHC-F, IHC-P, ICC/IF, FC, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Oculopharyngeal Muscular Dystrophy	OPMD Muscular Dystrophy, Oculopharyngeal Dystrophy, Oculopharyngeal Muscular Oculopharyngeal Dystrophy Progressive Muscular Dystrophy, Oculopharyngeal Type Muscular Dystrophy Oculopharyngeal Dystrophy, Muscular, Oculopharyngeal
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Influenza	Flu Influenza With Non-Respiratory Manifestation Influenza With Other Manifestations Influenza, Human Influenza, Susceptibility To Seasonal Influenza, Virus Identified
Myopathy	Muscular Diseases Myopathies
Partington Syndrome	X-Linked Reticulate Pigmentary Disorder PRTS Partington X-Linked Mental Retardation Syndrome Mrxs1 Mrx36 Intellectual Developmental Disorder, X-Linked, Syndromic 1 Partington Disease Pdr Partington-Mulley Syndrome Russell-Silver Syndrome, X-Linked Mental Retardation, X-Linked, Syndromic 1 Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures Mental Retardation, X-Linked 36 X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations X-Linked Russell-Silver Syndrome Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome Intellectual Disability, X-Linked, Syndromic 1 Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures Partington X-Linked Intellectual Disability Syndrome X-Linked Intellectual Deficit-Dystonia-Dysarthria X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures Familial Cutaneous Amyloidosis X-Linked Cutaneous Amyloidosis Xlpdr X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome Pigmentary Disorder, Reticulate, With Systemic Manifestations
Inclusion Body Myositis	Ibm Sporadic Inclusion Body Myositis Inflammatory Myopathy Myositis, Inclusion Body Inflammatory Myopathies Sibm Myositis Inclusion Body Nonaka Myopathy Inclusion Body Myopathy, Autosomal Recessive Inclusion Body Myopathy, Autosomal Dominant Myositis Inclusion Body Myopathy, Sporadic
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Hand-Foot-Genital Syndrome	Hand-Foot-Uterus Syndrome Hfgs Hfg Syndrome Hfu Syndrome HFG Hfu Hand Foot Uterus Syndrome Hand Foot Genital Syndrome
Synpolydactyly	Syndactyly Type 2 Syndactyly, Type 2 Spd
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Aspiration Pneumonia	Pneumonia, Aspiration Pneumonia Aspiration Aspiration Pneumonitis
Congenital Central Hypoventilation Syndrome	Cchs Haddad Syndrome Ondine Curse Ondine Syndrome Congenital Central Hypoventilation Congenital Central Alveolar Hypoventilation Syndrome Congenital Failure Of Autonomic Control Ondine'S Curse Primary Alveolar Hypoventilation Ondine-Hirschsprung Disease Central Congenital Hypoventilation Syndrome Congenital Ondine Curse Idiopathic Congenital Central Alveolar Hypoventilation Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome Ondine-Hirschsprung Syndrome
Muscle Tissue Disease

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09952	PABPN1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PABPN1	VGNC	VGNC:80890
Bos taurus	PABPN1	VGNC	VGNC:53575
Rattus norvegicus	PABPN1	RGD	RGD:619928
Canis familiaris	PABPN1	VGNC	VGNC:50550
Mus musculus	PABPN1	MGD	MGI:1859158
Others	PABPN1	NCBI