PRPF8 (pre-mRNA processing factor 8)

2007-02-01 Affiliation

Identity

HGNC

PRPF8

LOCATION

17p13.3

LOCUSID

10594

ALIAS

HPRP8,PRP8,PRPC8,RP13,SNRNP220

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 10594
MIM: 607300
HGNC: 17340
Ensembl: ENSG00000174231

Variants:

dbSNP: 10594
ClinVar: 10594
TCGA: ENSG00000174231
COSMIC: PRPF8

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000174231	ENST00000304992	Q6P2Q9
ENSG00000174231	ENST00000571958	I3L1T8
ENSG00000174231	ENST00000572621	Q6P2Q9
ENSG00000174231	ENST00000573725	I3L3Z8
ENSG00000174231	ENST00000577001	I3L0J9

Expression (GTEx)

100

150

200

250

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Spliceosome	KEGG	ko03040
Spliceosome	KEGG	hsa03040
Spliceosome, 35S U5-snRNP	KEGG	hsa_M00355
Spliceosome, U4/U6.U5 tri-snRNP	KEGG	hsa_M00354
Spliceosome, U4/U6.U5 tri-snRNP	KEGG	M00354
Spliceosome, 35S U5-snRNP	KEGG	M00355
Gene Expression	REACTOME	R-HSA-74160
Processing of Capped Intron-Containing Pre-mRNA	REACTOME	R-HSA-72203
mRNA Splicing	REACTOME	R-HSA-72172
mRNA Splicing - Major Pathway	REACTOME	R-HSA-72163
mRNA Splicing - Minor Pathway	REACTOME	R-HSA-72165

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
17317632	2007	Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa.	64
23704370	2013	Inhibition of RNA helicase Brr2 by the C-terminal tail of the spliceosomal protein Prp8.	52
18843295	2008	Structure and function of an RNase H domain at the heart of the spliceosome.	42
21378395	2011	PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.	39
12714658	2003	Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.	36
23727230	2013	Structural basis of Brr2-Prp8 interactions and implications for U5 snRNP biogenesis and the spliceosome active site.	34
26392272	2015	Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5' splice site strength.	25
24968230	2014	Cytoplasmic viral RNA-dependent RNA polymerase disrupts the intracellular splicing machinery by entering the nucleus and interfering with Prp8.	21
22039234	2011	Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.	16

Citation

Dessen P

PRPF8 (pre-mRNA processing factor 8)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45748/prpf8