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FLASH GENE

Symbol

EXOSC8

contributors: mct - updated : 07-06-2018

HGNC name	exosome component 8
HGNC id	17035

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PCH1C pontocerebellar hypoplasia, type 1C
Location	13q13.3      Physical location : 37.574.677 - 37.583.749
Synonym name	Opa-interacting protein 2
Synonym symbol(s)	p9, CIP3, EAP2, OIP2, RRP43, Rrp43p, bA421P11.3, PCH1C
EC.number	3.1.13.-

DNA

TYPE	functioning gene
STRUCTURE	8.00 kb     11 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_181503 11 - 1427 NP_852480 - 276 - 2002 11929972

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

mono polymer

complex

HOMOLOGY

interspecies	homolog to murine EXOSC8
	homolog to rattus LOC295050
	homolog to yeast Rrp43

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,nucleolus

basic FUNCTION	have 3'->5' exoribonuclease activity
	processes the 3' terminus of precursor tRNA
	required for rapid degradation of ARE-containing RNA
	is an essential protein of the exosome core

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

exosome C RNase complex

INTERACTION

DNA

RNA	RNA binding

small molecule

protein	interacts with RPP14
	GATA1/FOXO3 repressed expression of EXOSC8, a pivotal component of the exosome complex, which mediates RNA surveillance and epigenetic regulation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PCH1C

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   downregulating EXOSC8, or additional exosome complex components, in primary erythroid precursor cells induced erythroid cell maturation

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS