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

Home Page

FLASH GENE

Symbol

PNPT1

contributors: mct - updated : 15-01-2011

HGNC name	polyribonucleotide nucleotidyltransferase 1
HGNC id	23166

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	54.81 kb     28 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_033109 28 - 4579 NP_149100 - 783 - 2002 12473748

EXPRESSION

Type

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 endocrine brain diencephalon pituitary     Hearing/Equilibrium ear inner cochlea     Mus musculus Nervous brain diencephalon hypothalamus

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium hair cell receptor Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one K homology RNA-binding domain
	two RNASE PH domains
	one S1 domain

conjugated

PhosphoP

HOMOLOGY

Homologene

FAMILY

polyribonucleotide nucleotidyltransferase family

CATEGORY

enzyme , RNA associated

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria,interspace
	intracellular,cytoplasm,organelle,membrane

basic FUNCTION	playing an important role in growth control associated with terminal differentiation and cellular senescence
	may play a significant role in regulating cellular growth and overlapping gene expression changes, also induced by IFN, may contribute to these important physiological processes
	predominantly mitochondrial protein, and via its localization in both mitochondria and cytoplasm, is able to target a specific cytoplasmic mRNA, MYC, for degradation and through this process induce cellular senescence
	plays an essential role in mediating IFN-mediated growth inhibition and its upregulation might mediate chronic inflammatory pathological processes during aging
	type I IFN-inducible 3,5 prime exoribonuclease that mediates mRNA degradation
	involved in RNA polyadenylation, degradation, and processing in prokaryotes and organelles
	although located in the intermembrane space, is potentially involved, most likely by indirect means, in the processing and polyadenylation of mtRNA
	could be involved in RNA targeting to human mitochondria
	new role for PNPASE in regulating the import of nuclear-encoded RNAs into the mitochondrial matrix
	has a central role in augmenting the import of small RNA components required for DNA replication and RNA processing into the mitochondrial matrix
	represents the first receptor-like component that binds RNA in mammalian cells to mediate RNA import into the mitochondrial matrix
	crucial role in mitochondrial import of small RNAs needed for replication, transcription, and translation of the mitochondrial genome
	RNA-processing enzyme with expanding roles in regulating cellular physiology
	involved in mitochondrial translation and RNA import

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

novel pathway by which an evolutionary conserved RNA-metabolizing enzyme, PNPT1, regulates cell growth and viability

a component

homotrimerization of PNPase is necessary for the RNA processing and transporting function of the protein

INTERACTION

DNA

RNA

small molecule

protein

PNPT1-dependent import of RMRP into mitochondria

cell & other

REGULATION

induced by

type 1 IFNs

ASSOCIATED DISORDERS

corresponding disease(s)

COXPD13 , DFNB70

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   rapid overexpression directly promotes apoptosis without cell cycle changes, in melanoma cells constitutional     --low   leads to mitochondrial dysfunction with an impairment of mitochondrial RNA processing and the accumulation of polycistronic transcripts

Susceptibility

to presbyacusis

Variant & Polymorphism

Candidate gene
Marker
Therapy target	targeted overexpression of PNPT1 represents a novel strategy to selectively downregulate RNA expression and consequently intervene in a variety of pathophysiological conditions

ANIMAL & CELL MODELS