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PRPF8
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	3E9L, 3ENB, 3LRU, 4JK7, 4JK8, 4JK9, 4JKA, 4JKB, 4JKC, 4JKD, 4JKE, 4JKF, 4JKG, 4JKH, 4KIT, 3JCR
Identifiers
Aliases	PRPF8, pre-mRNA processing factor 8, HPRP8, PRP8, PRPC8, RP13, SNRNP220
External IDs	OMIM: 607300; MGI: 2179381; HomoloGene: 4706; GeneCards: PRPF8; OMA:PRPF8 - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	1,684,867 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	75,400,275 bp
RNA expression pattern
	Top expressed in
	anterior pituitary; ; ventricular zone; ; bone marrow cells; ; ganglionic eminence; ; left ovary; ; right ovary; ; right hemisphere of cerebellum; ; epithelium of colon; ; right lobe of thyroid gland; ; left testis;
	Top expressed in
	tail of embryo; ; genital tubercle; ; mandibular prominence; ; neural layer of retina; ; epiblast; ; maxillary prominence; ; corneal stroma; ; efferent ductule; ; medial ganglionic eminence; ; primitive streak;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	K63-linked polyubiquitin modification-dependent protein binding; protein binding; RNA binding; second spliceosomal transesterification activity; U6 snRNA binding; U1 snRNA binding; U2 snRNA binding; U5 snRNA binding; pre-mRNA intronic binding;
Cellular component	nuclear speck; catalytic step 2 spliceosome; membrane; U5 snRNP; nucleoplasm; small nuclear ribonucleoprotein complex; spliceosomal complex; nucleus; U4/U6 x U5 tri-snRNP complex; U2-type precatalytic spliceosome; U2-type catalytic step 2 spliceosome;
Biological process	mRNA splicing, via spliceosome; spliceosomal tri-snRNP complex assembly; RNA splicing, via transesterification reactions; cellular response to tumor necrosis factor; mRNA processing; RNA splicing; cellular response to lipopolysaccharide;
	Sources:Amigo / QuickGO
Orthologs
	10594
	192159
	ENSG00000274442; ENSG00000174231
	ENSMUSG00000020850
	Q6P2Q9
	Q99PV0
	NM_006445
	NM_138659
	NP_006436
	NP_619600
	Wikidata
View/Edit Human	View/Edit Mouse

Pre-mRNA-processing-splicing factor 8 is a protein that in humans is encoded by the PRPF8 gene.^[5]^[6]

Function

Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa.^[7]

Interactions

PRPF8 has been shown to interact with WDR57^[8]^[9] and EFTUD2.^[9]

References

^ ^a ^b ^c ENSG00000174231 GRCh38: Ensembl release 89: ENSG00000274442, ENSG00000174231 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000020850 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF (Jul 2001). "Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13)". Human Molecular Genetics. 10 (15): 1555–62. doi:10.1093/hmg/10.15.1555. PMID 11468273.
^ Luo HR, Moreau GA, Levin N, Moore MJ (Jul 1999). "The human Prp8 protein is a component of both U2- and U12-dependent spliceosomes". RNA. 5 (7): 893–908. doi:10.1017/S1355838299990520. PMC 1369814. PMID 10411133.
^ "Entrez Gene: PRPF8 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)".
^ Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
^ ^a ^b Achsel T, Ahrens K, Brahms H, Teigelkamp S, Lührmann R (Nov 1998). "The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein". Molecular and Cellular Biology. 18 (11): 6756–66. doi:10.1128/mcb.18.11.6756. PMC 109259. PMID 9774689.