PRPF8 (pre-mRNA processing factor 8)

2007-02-01  

Identity

HGNC
PRPF8
LOCATION
17p13.3
LOCUSID
10594
ALIAS
HPRP8,PRP8,PRPC8,RP13,SNRNP220
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174231ENST00000304992Q6P2Q9
ENSG00000174231ENST00000571958I3L1T8
ENSG00000174231ENST00000572621Q6P2Q9
ENSG00000174231ENST00000573725I3L3Z8
ENSG00000174231ENST00000577001I3L0J9

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, 35S U5-snRNPKEGGhsa_M00355
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
Spliceosome, 35S U5-snRNPKEGGM00355
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
386050342024PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.0
386050342024PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.0
366096002023PRPF8 increases the aggressiveness of hepatocellular carcinoma by regulating FAK/AKT pathway via fibronectin 1 splicing.6
373575062023PRPF8 controls alternative splicing of PIRH2 to modulate the p53 pathway and survival of human ESCs.0
366096002023PRPF8 increases the aggressiveness of hepatocellular carcinoma by regulating FAK/AKT pathway via fibronectin 1 splicing.6
373575062023PRPF8 controls alternative splicing of PIRH2 to modulate the p53 pathway and survival of human ESCs.0
351246062022The role of splicing factor PRPF8 in breast cancer.2
355431422022Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.1
363224202022Structural and functional investigation of the human snRNP assembly factor AAR2 in complex with the RNase H-like domain of PRPF8.2
351246062022The role of splicing factor PRPF8 in breast cancer.2
355431422022Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.1
363224202022Structural and functional investigation of the human snRNP assembly factor AAR2 in complex with the RNase H-like domain of PRPF8.2
318155362020How Is Precursor Messenger RNA Spliced by the Spliceosome?40
319144072020The inactive C-terminal cassette of the dual-cassette RNA helicase BRR2 both stimulates and inhibits the activity of the N-terminal helicase unit.8
326900862020circRNA-UBAP2 promotes the proliferation and inhibits apoptosis of ovarian cancer though miR-382-5p/PRPF8 axis.26

Citation

Dessen P

PRPF8 (pre-mRNA processing factor 8)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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