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FLASH GENE
Symbol MARF1 contributors: mct - updated : 19-02-2019
HGNC name meiosis regulator and mRNA stability factor 1
HGNC id 29562
Location 16p13.11      Physical location : -
Genatlas name meiosis arrest female 1
Synonym name
  • KIAA0430 gene product
  • limkain b1
  • protein phosphatase 1, regulatory subunit 34
  • Synonym symbol(s) A-362G6.1, LKAP, KIAA0430, LMKB, PPP1R34
    DNA
    TYPE functioning gene
    STRUCTURE 48.80 kb     27 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 7751 - 1739 - 2012 23090997
    27 - 7760 - 1742 - 2012 23090997
    27 - 7730 - 1742 - 2012 23090997
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainhindbraincerebellumcerebellar cortex 
    Reproductivemale systemprostate   
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/ImmuneB cell Homo sapiens
    Lymphoid/ImmuneT cell Homo sapiens
    Reproductivelutein cell Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three major domain motifs:
  • an N-terminal “LK-Nuc” domain, termed “NYN
  • two central “RRM” domains,
  • C-terminal eight “OST-HTH/LOTUS” domains , unique RNA-binding domain, which has a winged helix-turn-helix fold and is predicted to bind specifically to dsRNAs or stems of folded structures in RNAs
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus,nucleoplasm,nuclear bodies
    basic FUNCTION
  • involved in nuclear mRNA splicing, via spliceosome
  • is an essential regulator of important oogenic processes leading to female fertility and the development of healthy offspring
  • is a protein essential for controlling meiosis and retrotransposon surveillance in oocytes
  • controls meiosis and retrotransposon silencing in mammalian oocytes
  • MARF1 function is required only during oogenesis
  • MARF1 alone may be capable of performing regulatory functions similar to those carried out by multiple components in male germ cells
  • has a role in the regulation of mRNA stability
  • appears to have different functions in different cell types: maintenance of genomic stability in developing oocytes and possible dampening of the inflammatory response in B and T cells
  • is an RNA-binding proteins (RBPs) that is expressed during neuronal differentiation
  • MARF1 is indispensable for maintaining the fidelity of homolog segregation during oocyte maturation, and this function relies on its C-terminal domains
  • ribonuclease activity of MARF1 controls oocyte meiotic progression and retrotransposon surveillance
  • ribonuclease activity of MARF1 controls oocyte meiosis and genome integrity
  • MARF1 post-transcriptionally represses gene expression by serving as both an endoribonuclease and as a platform that recruits the DCP1:DCP2 decapping complex to targeted mRNAs
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    cause female infertility characterized by up-regulation of a cohort of transcripts, increased retrotransposon expression, defective cytoplasmic maturation, and meiotic arrest
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    in contrast to females, male Marf1 mutants are fully fertile, indicating apparently normal spermatogenesis