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FLASH GENE

Symbol

PRPF8

contributors: mct - updated : 09-02-2017

HGNC name	PRP8 pre-mRNA processing factor 8 homolog (yeast)
HGNC id	17340

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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 mouth       highly Reproductive female system uterus cervix   highly   female system breast mammary gland   highly Respiratory respiratory tract larynx     highly Visual eye retina     highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a central RNA recognition motif (RRM)
	several WD repeats, functioning in protein-protein interactions
	a core domain IV, implicated in key spliceosomal interactions, with a bipartite structure that includes the presence of an RNase H fold linked to a five-helix assembly
	C-terminal Jab1/MPN domain (Ritchie 2008)

mono polymer

complex

HOMOLOGY

interspecies	ortholog to S. cerevisiae prp8p
	ortholog to rattus Prpf8 predicted
	ortholog to murine Prpf8

Homologene

FAMILY

CATEGORY

RNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
text	perinuclear region of photor(eceptors

basic FUNCTION	playing an essential role for the catalytic step II in pre-mRNA splicing process
	employs potentially an RNase H domain to help assemble and stabilize the spliceosomal catalytic core, coordinate the activities of other splicing factors and possibly participate in chemical catalysis of splicing
	spliceosome subunits SNW1 and PRPF8 are essential for sister chromatid cohesion in human cells
	pre-mRNA splicing factor PRPF8 is a crucial component of the U5 snRNP, and together with EFTUD2 and SNRNP200, it forms a central module of the spliceosome

CELLULAR PROCESS

nucleotide, RNA splicing

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component	core component of the U5 snRNP
	component of both U2- and U12-dependent spliceosomes
	with PRPF31 and PRPF3, are component of the spliceosome, a macromolecular complex that processes nearly all pre-mRNAs
	pre-mRNA splicing factor PRPF8 is a crucial component of the U5 snRNP, and together with EFTUD2 and SNRNP200, it forms a central module of the spliceosome

INTERACTION

DNA

RNA	binding to U4/U6 RNA

small molecule

protein	during step 1 of splicing, PRPF8 interactions with SF3b proteins are replaced by SLU7, positioning this second step factor close to the active site, and that the DEAH-box helicases DHX16 and DHX38 cooperate through ordered interactions with GPKOW (PMIDl:
	PRPF8 protein, a major regulator of the spliceosome, can insert its C-terminal tail into SNRNP200 RNA-binding tunnel, thereby intermittently blocking SNRNP200 RNA-binding, adenosine triphosphatase, and U4/U6 unwinding activities
	SLU7 and PRPF18, which promote exon ligation, bind together to the PRPF8 RNase H-like domain
	SLU7 adopts an extended conformation, binds PRPF8 and CWC22, and is poised for selection of the 3'-splice site
	PRPF8 plays a key role in positioning the 5'splice sites (SSs) and 3'SS, facilitated by SLU7 through interactions with PRPF8 and substrate RNA to advance exon ligation
	interactions of PRPF8 and GRIA1 in testis and brain cortex

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RP13

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS