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FLASH GENE
Symbol MIS12 contributors: mct - updated : 18-08-2015
HGNC name MIS12, MIND kinetochore complex component, homolog (S. pombe)
HGNC id 24967
Location 17p13.2      Physical location : 5.390.246 - 5.394.128
Synonym name
  • homolog of yeast Mis12
  • protein MIS12 homolog
    • Synonym symbol(s) hMis12, MGC2488, MTW1, KNTC2AP, MIND
    DNA
    TYPE functioning gene
    STRUCTURE 3.89 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 2509 - 205 - 2003 12515822
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
     nervecranial nerveoptic nerve  
     nervespinal nervesciatic  
    Reproductivefemale systemplacenta   
     male systemprostate   
    Respiratorylung    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer heteromer , complex
    HOMOLOGY
    interspecies homolog to yeast Mis12
    Homologene
    FAMILY
  • mis12 family
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome,kinetochore
    basic FUNCTION
  • centromere chromatin protein, essential for equal segregation
  • forms a stable complex with the centromeric heterochromatin components CBX5alpha and CBX5gamma
  • a four-subunit MIS12 complex plays an essential role in chromosome segregation in vertebrates and contributes to mitotic kinetochore assembly
  • a balance of MIS12 complex assembly and turnover is potentially required for the efficient and accurate assembly of kinetochore-microtubule binding sites
  • confers increased microtubule interaction of the complex MIS12/NDC80
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • NDC80, MIS12, and CASC5 complexes form the core of the KMN network
  • KMN network (for CASC5, MIS12 and NDC80 complexes) is a hub for signalling at the outer kinetochore
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • complexing with MIS14
  • DSN1 is required to shape an interface between the MIS12 complex and CASC5
  • SKP1 increases MIS12 complexes at kinetochores and restores timely chromosome alignment but forms less-robust microtubule-binding sites
  • MIS12 binds NDC80 complex far from the microtubule-binding domain and confers increased microtubule interaction of the complex
  • binding of the MIS12 and NDC80 outer kinetochore subcomplexes to CENPC1 and CENPT
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    of MIS12 complex subunits in cells associated in mitosis with misaligned chromosomes and defects in chromosome biorientation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS