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FLASH GENE
Symbol KHDC3L contributors: mct - updated : 22-12-2014
HGNC name chromosome 6 open reading frame 221
HGNC id 33699
Corresponding disease
HYDM2 familial biparental hydatidiform mole
Location 6q13      Physical location : -
Genatlas name ES cell associated transcript 1
Synonym name hypothetical protein LOC154288
Synonym symbol(s) C6orf221, ECAT1, HYDM2
DNA
TYPE functioning gene
STRUCTURE 1.51 kb     3 Exon(s)
MAPPING cloned Y linked N status provisional
Map cen - KCNQ5 - KHDC1 - DPPA5 - ECAT1 - OOEP - DDX43 - qter
Authors Pierre (2007)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 1027 24.3 217 - 2007 17913455
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemovary   
 male systemtestis   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticprogenitor cell Homo sapiens
Reproductiveoocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an atypical RNA-binding KH domain
  • HOMOLOGY
    Homologene
    FAMILY
  • family of oocyte and/or embryonic stem cell-specific genes
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • NLRP7 and KHDC3L localize to the oocyte cytoskeleton and are polar and absent from the cell-to-cell contact region in early preimplantation embryos
  • basic FUNCTION
  • may be playing a role in oogenesis, folliculogenesis, or early embryonic development
  • displays a juxta perinuclear signal and colocalizes with NLRP7 in lymphoblastoid cell lines from normal subjects
  • KHDC3L, NLRP7 having roles in the integrity of the oocytes, post-zygotic divisions, and cell-lineage differentiation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HYDM2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS