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FLASH GENE
Symbol SPEM1 contributors: mct - updated : 19-05-2012
HGNC name spermatid maturation 1
HGNC id 32429
Location 17p13.1      Physical location : 7.323.678 - 7.324.950
Synonym symbol(s) c17orf83, FLJ40081
DNA
TYPE functioning gene
STRUCTURE 1.27 kb     3 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1009 - 309 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis  predominantly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductivespermatid Homo sapiens
Reproductivespermatocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY regulatory
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm
text
  • UBQLN1 and SPEM1 were colocalized to the manchette of elongating spermatids
  • basic FUNCTION
  • required for proper cytoplasm removal, a genetically regulated process, and lack of SPEM1 causes sperm deformation and male infertility (PMID;
  • SPEM1 is one of these spermiogenesis-essential proteins encoded by a testis-specific gene exclusively expressed in the developing spermatids
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • UBQLN1 interacts with SPEM1 and participates in spermiogenesis
  • RANBP17 is one of the interacting partners of sperm maturation 1 (SPEM1) (potential function of SPEM1 in the RANBP17-mediated nucleocytoplasmic transport)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    causes failure of the cytoplasm to become loose and detach from the head and the neck region of the developing spermatozoa
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Male mice deficient in Spem1 were completely infertile because of deformed sperm characterized by a bent head wrapped around by the neck and the middle piece of the tail