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FLASH GENE
Symbol CPSF1 contributors: mct - updated : 23-03-2020
HGNC name cleavage and polyadenylation specific factor 1, 160kDa
HGNC id 2324
Corresponding disease
MYP27 myopia 27
Location 8q24.3      Physical location : 145.618.446 - 145.634.733
Synonym name
  • 160kD subunit; cleavage and polyadenylation specificity factor
  • polyadenylation specificity factor
  • Synonym symbol(s) CPSF160, HSU37012, P/cl.18
    EC.number 2.6.1.2/2.4.2.30
    DNA
    TYPE functioning gene
    STRUCTURE 16.17 kb     38 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    38 - 4480 - 1443 - 2018 29358758
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus   highly
    Reproductivefemale systemovary   
    Respiratoryrespiratory tractlarynx  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a bipartite nuclear localization signal (NLS)
  • a RNA binding CPSF-AC terminal domain
  • mono polymer heteromer , tetramer , complex
    HOMOLOGY
    interspecies ortholog to Drosophila p160
    Homologene
    FAMILY
    CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • recognition step of the polyadenylation reaction 3' processing of mRNA precursors
  • CPSF1 functions as an essential scaffold and preorganizes CPSF4 and WDR33 for high-affinity binding to AAUAAA
  • may play an important role in the development of retinal ganglion cell (RGC) axon projection
  • both CPSF4 and WDR33 are required for high-affinity binding of the AAUAAA polyadenylation signal (PAS) RNA, while these two proteins alone and their binary complexes with CPSF1 have much lower affinity for the RNA
  • mediates retinal vascular dysfunction by suppressing the phosphorylation mechanism in the mitogen-activated protein kinase/extracellular-signal-regulated kinase (MAPK/ERK) pathway in Diabetic retinopathy
  • CELLULAR PROCESS nucleotide, transcription, maturation
    PHYSIOLOGICAL PROCESS
    text polyadenylation
    PATHWAY
    metabolism
    signaling
    a component
  • complexing with CPSF2,3,4,poly (A) ribonuclease (PARN) and CSTF3 (cleavage stimulation factor 3)
  • multisubunit complex that binds to the canonical AAUAAA hexamer and to U-rich upstream sequence elements on the pre-mRNA
  • a core CPSF complex comprising CPSF1, WDR33, CPSF4 and FIP1L1 is sufficient for AAUAAA motif recognition, necessary for 3' polyadenylation, a key step in eukaryotic mRNA biogenesis
  • INTERACTION
    DNA
    RNA binding to the AAUAA motif of the pre mRNA,upstream the cleavage site
    small molecule
    protein
  • CPSF1, binding the polyadenylation signal AAUAAA, and PABPN1, binding the growing poly(A) tail, cooperatively stimulate poly(A) polymerase such that a complete poly(A) tail is synthesized in one processive event, which terminates at a length of approximately 250 nucleotides
  • CPSF1 interaction with intronic IL7R pre-mRNA interferes likely with spliceosome binding to the exon 6 5' splice site
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MYP27
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in diabetic retinopathy (DR) tissues and retinal vascular endothelial cells &65288;HRVECs&65289; under high-glucose (HG) conditions
    tumoral     --low  
    depletion of CPSF1 suppressed cell viability, impaired colony formation ability, induced cell cycle arrest at G0/G1 phase and promoted cell apoptosis in ovarian cancer cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveovary
    its depletion might serve as a potential therapeutic target for human ovarian cancer
    ANIMAL & CELL MODELS