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FLASH GENE

Symbol

EXOSC9

contributors: mct - updated : 16-09-2015

HGNC name	exosome component 9
HGNC id	9137

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CASMN cerebellar atrophy and spinal motoneuronopathy
Location	4q27      Physical location : 122.722.471 - 122.738.175
Synonym name	polymyositis/scleroderma autoantigen 1 (75kD)
Synonym symbol(s)	p5, p6, RRP45, PMSCL1, Rrp45p, PM/Scl-75
EC.number	3.1.13.-

DNA

TYPE	functioning gene
STRUCTURE	15.73 kb     13 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_001034194 13 - 1644 NP_001029366 - 456 - 2003 12788944 NM_005033 12 - 1593 NP_005024 - 439 - 2003 12788944

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

putative nuclear localization signal in the C-terminal region of sufficient, although not essential for nuclear localization of the protein, playing a role in targeting the exosome to the nucleolus

HOMOLOGY

Homologene

FAMILY

RNAse PH family

CATEGORY

RNA associated , antigen

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,nucleus,nucleolus
text	SETX and EXOSC9 co-localize in nuclear foci that constitute sites of R-loop formation generated by transcription and replication machinery collisions

basic FUNCTION	required for the 3'processing of the 7s pre-RNA to the mature 5.8s rRNA
	although not required for exosome stability, EXOSC10 and EXOSC9 are involved in mRNA degradation, either as essential subunits of a functional exosome complex or as exosome-independent proteins
	promotes self-renewal and prevents premature differentiation by maintaining transcript levels of a transcription factor necessary for epidermal differentiation, GRHL3, at low levels through mRNA degradation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

key subunit of the exosome complex, resulted in loss of cells from the progenitor cell compartment, premature differentiation, and loss of epidermal tissue

INTERACTION

DNA

RNA

small molecule

protein	interact specifically with AU-rich instability elements (AREs), suggesting that the interaction between the exosome and AREs plays a key role in regulating the efficiency of ARE-containing mRNA turnover
	is a core component of the exosome, a SETX-interacting protein and this interaction depends on modification of SETX by sumoylation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CASMN

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS