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FLASH GENE
Symbol PMFBP1 contributors: mct - updated : 06-09-2018
HGNC name polyamine modulated factor 1 binding protein 1
HGNC id 17728
Corresponding disease
ACSPS Acephalic Spermatozoa Syndrome
Location 16q22.2      Physical location : 72.152.996 - 72.206.349
Synonym symbol(s) DKFZP434G131, STAP, F77
DNA
TYPE functioning gene
STRUCTURE 57.21 kb     21 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned   linked   status
RNA
TRANSCRIPTS type
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 3690 - 882 - 2001 11468771
21 - 3452 - 1007 - 2001 11468771
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis    Homo sapiens
 male systemmale genital tractepididymis   Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm
text
  • is localized at the sperm head-to-tail connecting piece to join the coupling apparatus to the sperm nuclear envelope
  • basic FUNCTION
  • sperm tail-associated protein
  • is essential for the attachment of the coupling apparatus to the sperm head
  • PMFBP1 and SUN5 might work in a similar way to maintain sperm head and tail integrity
  • PMFBP1 may work as a scaffold protein to connect the coupling apparatus and the sperm nuclear envelope
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cooperates with SUN5 and SPATA6 to connect sperm head to tail
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACSPS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in Pmfbp1 knockout mice, the disruption of Pmfbp1 led to male infertility due to the production of acephalic spermatozoa
  • Pmfbp1-/- male mice failed to produce offspring, while Pmfbp1-deficient female mice with normal follicle development were fertile