CPSF1 (cleavage and polyadenylation specific factor 1)

2018-11-01  

Identity

HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
CPSF160,HSU37012,MYP27,P/cl.18
FUSION GENES

Other Information

Locus ID:

NCBI: 29894
MIM: 606027
HGNC: 2324
Ensembl: ENSG00000071894

Variants:

dbSNP: 29894
ClinVar: 29894
TCGA: ENSG00000071894
COSMIC: CPSF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000071894ENST00000531042E9PIM1
ENSG00000071894ENST00000531727A0A087X101
ENSG00000071894ENST00000532935A0A087WTV4
ENSG00000071894ENST00000616140Q10570
ENSG00000071894ENST00000620219Q10570

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
mRNA surveillance pathwayKEGGko03015
mRNA surveillance pathwayKEGGhsa03015
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Transcription TerminationREACTOMER-HSA-73856
Cleavage of Growing Transcript in the Termination RegionREACTOMER-HSA-109688
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA 3'-end processingREACTOMER-HSA-72187
Transport of Mature Transcript to CytoplasmREACTOMER-HSA-72202
Transport of Mature mRNAs Derived from Intronless TranscriptsREACTOMER-HSA-159234
Transport of Mature mRNA Derived from an Intronless TranscriptREACTOMER-HSA-159231
Processing of Capped Intronless Pre-mRNAREACTOMER-HSA-75067
Processing of Intronless Pre-mRNAsREACTOMER-HSA-77595
tRNA processingREACTOMER-HSA-72306
tRNA processing in the nucleusREACTOMER-HSA-6784531

References

Pubmed IDYearTitleCitations
292742312017Structural insights into the assembly and polyA signal recognition mechanism of the human CPSF complex.18
293587582018Structural basis of AAUAAA polyadenylation signal recognition by the human CPSF complex.18
231518782013Cleavage and polyadenylation specificity factor 1 (CPSF1) regulates alternative splicing of interleukin 7 receptor (IL7R) exon 6.13
293585552017Targeting cleavage and polyadenylation specific factor 1 via shRNA inhibits cell proliferation in human ovarian cancer.4
306898922019CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.1

Citation

Dessen P

CPSF1 (cleavage and polyadenylation specific factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57753/cpsf1