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FLASH GENE
Symbol ASPM contributors: mct/npt - updated : 17-08-2009
HGNC name asp (abnormal spindle)-like, microcephaly associated (Drosophila)
HGNC id 19048
Corresponding disease
MCPH5 microcephaly primary 5
Location 1q31      Physical location : 197.053.257 - 197.115.824
Synonym name
  • abnormal spindle-like microcephaly associated
  • Asp homolog
  • Synonym symbol(s) FLJ10517, FLJ10549, ASP, Calmbp1, DKFZp686N06184, FLJ43117
    DNA
    TYPE functioning gene
    STRUCTURE 62.57 kb     28 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    SLICK 1q31.2 sodium- and chloride-activated ATP-sensitive potassium channel HF1 1q32 H factor 1 (complement) FHR-3 1q32 complement factor H related 3 HFL1 1q32 H factor (complement)-like 1 FHR-4 1q32 complement factor H-related 4 HFL3 1q32 H factor (complement)-like 3 FHR5 1q22-q23 H factor (complement)-like 3 F13B 1q31 coagulation factor XIII, B polypeptide ASPM 1q31 asp (abnormal spindle)-like, microcephaly associated (Drosophila) FRBZ1 1q31.3 FRBZ1 protein LOC127011 1q31.3 similar to ATPase, H+ transporting, lysosomal accessory protein 2; ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9; vacuolar ATP synthase membrane sector associated protein M8-9; V-A CRB1 1q31-q32.1 crumbs homolog 1 (Drosophila) MRPS21P3 1q31.2 mitochondrial ribosomal protein S21 pseudogene 3 FLJ20054 1q31.3 hypothetical protein FLJ20054 MGC27044 LOC388722 1 similar to Hypothetical protein CBG13135 LHX9 1q31-q32 LIM homeobox 9 NEK7 1q31.3 NIMA (never in mitosis gene a)-related kinase 7 ATP6V1G3 1q32.2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3 PTPRC 1q31-q32.1 protein tyrosine phosphatase, receptor type, C LOC391147 1 similar to 40S ribosomal protein S2 LOC391148 1 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    28 splicing 10434 409.8 3477 - Bond, Nicholas (2009)
    39 IQ domains
    - splicing 2647 - 882 - Bond (2003)
    - splicing 2477 - 826 - Bond (2003)
    - splicing 1359 - 453 - Bond (2003)
    - splicing 2474 - 825 - Bond (2003)
    - splicing 1751 - 583 - Bond (2003)
    - splicing 4259 150 1389 - Kouprina (2005)
    41 IQ domains
    - splicing 5678 218 1892 - Kouprina (2005)
    lacking exon 18, 67 IQ domains
    - splicing 3189 110 1062 - Kouprina (2005)
    27 IQ domains
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     liver    
    Lymphoid/Immunelymph node   highly
     thymus   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    skin tegumentgerminal center beta cell
    cell lineage embryonic neuroblasts
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    cell cycle     cell cycle, M
    Text brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N-terminal putative calponin-homology domains
  • 39 IQ calmodulin-binding motifs, organized into a higher-order trimer repeat (HOR)
  • putative microtubule binding domain
  • HOMOLOGY
    interspecies ortholog to murine Calmbp1
    ortholog to Drosophila asp
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • localized in the spindle poles during mitosis
  • localizes at the centrosomes during the spindle formation
  • co-localizes with CIT at the midbody ring
  • basic FUNCTION
  • controling the brain size through modulation of mitotic spindle activity in neuronal progenitor cells
  • involved in regulation of mitotic spindle function in embryonic neuroblasts and in the regulation of neurogenesis
  • involved in nucleating microtubules at centrosome
  • play important roles in chromosome segregation in neural cells and its functional impairment causes microcephaly
  • ASPM and CIT are expressed during neurogenesis and play important roles in neuronal progenitor cell division
  • its expression is critical for proper neurogenesis and neuronal migration
  • CELLULAR PROCESS cell cycle, division, mitosis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to calmodulin
  • positive regulator of Wnt signaling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MCPH5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in cancer cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS