Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

PABPN1

contributors: mct/shn - updated : 20-12-2014

HGNC name	poly(A) binding protein, nuclear 1
HGNC id	8565

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	5.98 kb     7 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif	repetitive sequence
text structure	a 5' polymorphic,unstable GCG (alanine) repeat, from 6 to 8-13 copies

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D14S283 - D14S990 - PABPN1 - D14S581 - D14S972 - qter

RNA

TRANSCRIPTS	type	messenger

text	multiple splice variants

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004643 8 - 3080 NP_004634 32.7 306 - 2008 18343218

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive salivary gland       highly Nervous brain           nerve       highly Reproductive male system prostate         male system testis     highly Urinary bladder       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an acidic N terminal domain with trinucleotide expansion, with possible role in PABPN1 nucleo-cytoplasmic transport
	one putative RNA binding domain of the RNP type
	a C terminal basic domain

mono polymer

complex

HOMOLOGY

interspecies	ortholog to Pabpn1, Mus musculus
	ortholog to Pabpn1, Rattus norvegicus
	ortholog to PABPN1, Pan troglodytes
	ortholog to pabpn1, danio rerio

Homologene

FAMILY

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
	intracellular,nucleus,nucleolus
text	germinal center of lymph nodule
	possible role of the N-terminal polyalanine tract in PABPN1 nucleo-cytoplasmic transport

basic FUNCTION	required for progressive and efficient polymerization of poly(A) tail on the 3' end and controlling its size to abot 240 nucleotides
	involved in muscular contraction
	provides some protection to cells against pro-apoptotic insults distinct from the OPMD mutation such as staurosporine treatment and Bax expression
	likely exerting its anti-apoptotic effect through the regulation of BIRC4 levels

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

CPSF (160, 100, 73, 30)/PARN/PABPN1

INTERACTION

DNA

RNA	binds with high affinity to nascent poly(A) tails

small molecule

protein	SKIP
	CARM1
	hnRNP A1 and hnRNP A/B
	CPSF1, binding the polyadenylation signal AAUAAA, and PABPN1, binding the growing poly(A) tail, cooperatively stimulate poly(A) polymerase such that a complete poly(A) tail is synthesized in one processive event, which terminates at a length of approximately 250 nucleotides
	ARIH2 E3-ligase regulates PABPN1 protein accumulation and aggregation

cell & other

REGULATION

Other

upregulating MYOD1

ASSOCIATED DISORDERS

corresponding disease(s)

OPMD

Susceptibility

Variant & Polymorphism repeat	polyalanine expansion leading to the formation of nuclear aggregates (intranuclear inclusions)

Candidate gene
Marker
Therapy target	anti-aggregation therapy (trehalose), reducing aggregate formation, may prove effective in the treatment of OPMD
	a single-domain intracellular antibody, preventing oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein
	Sir2 and AMPK inhibition as therapeutic strategies for muscle protection in OPMD
	Wild-type PABPN1 over-expression can reduce mutant PABPN1 toxicity in both cell and mouse models of OPMD

ANIMAL & CELL MODELS

	Transgenic miceexpressing high levels of expanded hPABPN1 with a 13-alanine stretch showed an apparent myopathy phenotype, especially in old age
	PABPN1 knockdown makes cells more susceptible to apoptotic stimuli
	transcriptomic analysis revealed a massive gene deregulation in mouse model of OPMD (A17.1), display a significant deregulation of pathways associated with muscle atrophy