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FLASH GENE

Symbol

CPSF6

contributors: mct - updated : 03-03-2020

HGNC name	cleavage and polyadenylation specific factor 6, 68kDa
HGNC id	13871

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

organization reminiscent of spliceosomal SR proteins

HOMOLOGY

Homologene

FAMILY

RRM CPSF6/7 family

CATEGORY

enzyme , RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	in addition to paraspeckles, accumulates in structures that partially overlap with nuclear speckles
	shuttles between the nucleus and the cytoplasm in a transcription-dependent manner

basic FUNCTION	3' processing of pre mRNA precursors, early step facilitating the recruitement of other processing factors
	essential factor that is required for the first step in pre-mRNA 3' end processing
	novel function for the pre-mRNA 3' end processing factor CPSF6 in mRNA export
	not only plays a general role in 3'-end processing but also plays a regulatory role in poly(A) site selection
	regulates global alternative polyadenylation (APA) by specifically binding and activating enhancer-containing poly(A) sites (PASs)
	NUDT21 and serine/arginine-like protein CPSF6, regulates alternative polyadenylation (APA)
	is a critical host factor, that directly interacts with Bocavirus 1 NP1 Protein, mediates the nuclear import of NP1, and plays a role in the maturation of capsid protein-encoding mRNAs in the nucleus

CELLULAR PROCESS	nucleotide, transcription, maturation
	protein, translation/synthesis

PHYSIOLOGICAL PROCESS

text	polyadenylation

PATHWAY

metabolism

signaling

a component

complexing with other CPSf,poly (A) ribonuclease (PARN) STF3 (cleavage stimulation factor 3)

INTERACTION

DNA

RNA	binding to the AAUAA motif of the pre mRNA, upstream the cleavage site

small molecule

protein	interaction with U2AF2 in the functional coordination of splicing and 3' end processing
	inhibition of HIV-1 by TNPO3-depleted cells requires CPSF6

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       to FGFR1, in t(8;12)(p11;q15) and the 8p11 myeloproliferative syndrome tumoral fusion       with RARG, RARG-CPSF6 fusion, in a patient with AML that appeared to be typical acute promyelocytic leukemia (APL)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive breast is a molecular target with clinical relevance for prognosis and therapy in breast cancer

ANIMAL & CELL MODELS