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FLASH GENE
Symbol CENPH contributors: mct/npt - updated : 16-07-2008
HGNC name centromere protein H
HGNC id 17268
Location 5p15.2      Physical location : 68.485.374 - 68.506.183
Synonym name
  • kinetochore protein CENP-H
  • NNF1, MIND kinetochore complex component, homolog
  • interphase centromere complex protein 35
  • Synonym symbol(s) NNF1, PMF1, NNF1R, ICEN35
    DNA
    TYPE functioning gene
    STRUCTURE 20.00 kb     9 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
    9 - 1415 - 247 - Alonso (2007)
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a putative coiled coil structure
  • a nuclear localization signal (NLS)
  • mono polymer homomer , polymer
    HOMOLOGY
    Homologene
    FAMILY
  • centromere protein H family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome,centromere
    intracellular,nucleus,chromatin/chromosome,kinetochore
    text
  • colocalizing with CENPA, CENPB, CENPC
  • inside the kinetochore corona
  • neocentromeres
  • basic FUNCTION
  • centromere structure and kinetochore formation
  • having a necessary role for correct binding of spindle checkpoint proteins to kinetochore (act independent of each other in kinetochore assembly, but their combined activities are required for checkpoint signaling)
  • CELLULAR PROCESS cell cycle
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constitutive centromere-associated network (CCAN) component (Hori 2008)
  • inner kinetochore component (may function, in part, as a marker directing CENPA deposition to centromeres)(Okada
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • mitotic centromere activating kinase (KNSL6)
  • required for centromere targeting of CENPC
  • interacting with NUF2 (for kinetochore assembly)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in colorectal cancer tissues(Miyajima 2009)
    tumoral     --other  
    aberrant expression causes chromosome missegregation and plays an important role in the chromosomal instability frequently observed in colorectal cancers (Miyajima 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS