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FLASH GENE
Symbol PUM1 contributors: mct/npt - updated : 12-04-2022
HGNC name pumilio homolog 1 (Drosophila)
HGNC id 14957
Corresponding disease
SCA47 spinocerebellar ataxia 47
Location 1p35.2      Physical location : 31.404.352 - 31.538.564
Synonym name pumilio 1
Synonym symbol(s) PUMH1, PUML1, KIAA0099, PUMH, HSPUM
DNA
TYPE functioning gene
STRUCTURE 134.21 kb     22 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 5416 127 1188 - 2021 34734756
22 - 5410 126.3 1186 - 2021 34734756
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • RNA binding domain
  • pumilio-homology domain (PUM-HD)
    • HOMOLOGY
    interspecies homolog to Drosophila pumilio
    Homologene
    FAMILY
  • Puf family of RNA-binding proteins
    • CATEGORY chaperone/stress , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic,granule
    intracellular,nucleus,nucleoplasm,nuclear bodies,PML
    basic FUNCTION
  • developmental regulator controlling mRNA stability and translation
  • could also play an important role in translational regulation of embryogenesis and cell development and differentiation (Spassov 2002)
  • PUM1 and PUM2 repress the translation of E2F3 by binding to the E2F3 3prime untranslated region (UTR) and also enhance the activity of multiple E2F3 targeting microRNAs
  • PUM1, PUM2 regulates the translation of the voltage-gated sodium conductance, leading to a concomitant adjustment in action potential firing
  • PUM1, PUM2 are potent repressors that serve important roles in stem cell maintenance, neurological processes, and embryonic development
  • conserved function of the PUM1, PUM2 RBD is to bind specific mRNAs, antagonize PABPC1 function, and promote deadenylation
  • PUM1, PUM2 increased double-stranded (ds) RNA binding affinity of DHX58, and likely facilitates viral RNA recognition by DHX58 through its chaperon-like function
  • plays an important role in the establishment of the primordial follicle pool, meiosis, and female reproductive competency
  • PUM1 promotes the development and progression of ovarian cancer
  • PUM1, PUM2 bind an extensive network of mRNAs and repress protein expression by inhibiting translation and promoting mRNA decay
  • PUM1 is essential in the process of cytoplasmic maturation and developmental competence of the oocyte, which reveal an important function of maternal PUM1 as a post-transcriptional regulator during mammalian embryogenesis
  • distinct roles of individual mammalian PUM1, PUM2 in embryonic stem cells (ESCs), having essential functions in ESC pluripotency and embryogenesis
    • CELLULAR PROCESS protein, editing
    protein, translation/synthesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA binding
    small molecule
    protein
  • PUM1 and PUM2 repress the translation of E2F3 by binding to the E2F3 3prime untranslated region (UTR) and also enhance the activity of multiple E2F3 targeting microRNAs
  • RNA-binding protein PUMILIO1 (PUM1) not only directly regulates ATXN1 but also plays an unexpectedly important role in neuronal function
  • RBFOX1 targets PUM1 mRNA for destabilization and translational silencing, thereby promoting germ cell development
  • facilitates the transition of the late meiotic prophase I oocyte from pachytene to diplotene stage by regulating SYCP1 protein
  • PUM1 regulates HOTAIR expression via a posttranscriptional mechanism
  • critical role of PUM1 mediated translational control, particularly the PUM1-CDKN1B axis, in prostate cancer cell growth and tumorigenesis
  • PUM1 could bind to the 3'-untranslated region of low-density lipoprotein receptor-related protein 6 (LRP6) mRNA, resulting in reduced expression of LRP6 mRNA and protein
  • PUM1 regulates the growth and mobility of extravillous trophoblast cells (EVTs) by modulating LRP6 expression
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA47
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in prostate cancer
    tumoral     --over  
    in ovarian cancer tissues was higher than that in normal tissues
    constitutional       gain of function
    in preeclampsia impairs trophoblast invasion by negatively regulating the expression of the lncRNA HOTAIR
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveprostate
    PUM1-CDKN1B regulatory axis may represent potential target for therapeutics development
    ANIMAL & CELL MODELS