PRPF6 (pre-mRNA processing factor 6)

2008-12-01  

Identity

HGNC
LOCATION
20q13.33
LOCUSID
ALIAS
ANT-1,ANT1,C20orf14,Prp6,RP60,SNRNP102,TOM,U5-102K,hPrp6
FUSION GENES

Other Information

Locus ID:

NCBI: 24148
MIM: 613979
HGNC: 15860
Ensembl: ENSG00000101161

Variants:

dbSNP: 24148
ClinVar: 24148
TCGA: ENSG00000101161
COSMIC: PRPF6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101161ENST00000266079O94906

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
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

References

Pubmed IDYearTitleCitations
215493382011A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.38
201189382010Human PRP4 kinase is required for stable tri-snRNP association during spliceosomal B complex formation.32
247880922014An integrative analysis of colon cancer identifies an essential function for PRPF6 in tumor growth.32
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
120399622002Activation function-1 domain of androgen receptor contributes to the interaction between subnuclear splicing factor compartment and nuclear receptor compartment. Identification of the p102 U5 small nuclear ribonucleoprotein particle-binding protein as a coactivator for the receptor.15
158408142005The human U5 snRNP 52K protein (CD2BP2) interacts with U5-102K (hPrp6), a U4/U6.U5 tri-snRNP bridging protein, but dissociates upon tri-snRNP formation.14
182784692008The expression and bioinformatic analysis of a novel gene C20orf14 associated with lymphoma.2

Citation

Dessen P

PRPF6 (pre-mRNA processing factor 6)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50576/prpf6