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FLASH GENE
Symbol NCAPH contributors: mct - updated : 25-06-2019
HGNC name non-SMC condensin I complex, subunit H
HGNC id 1112
Corresponding disease
MCPH23 microcephaly 23, primary, autosomal recessive
Location 2q11.2      Physical location : 97.001.483 - 97.041.274
Synonym name
  • XCAP-H homolog
  • chromosome-associated protein H
  • condensin complex subunit 2
  • barren homolog 1
  • barren homolog (Drosophila)
    • Synonym symbol(s) HCAP-H, MGC4616, CAP-H, BRRN1, KIAA0074, BRRN, CAPH, MCPH23
    DNA
    TYPE functioning gene
    STRUCTURE 41.33 kb     18 Exon(s)
    MAPPING cloned Y linked   status provisional
    Map cen - D2S113 - NCAPH - D2S187 - D2S2311 - qter
    Authors Cabello (97)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    18 - 4495 - 741 - 2016 27737959
    18 - 5997 - 730 - 2016 27737959
    18 - 5958 - 717 - 2016 27737959
    17 - 5777 - 605 - 2016 27737959
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Endocrinepancreas   highly
    Reproductivefemale systemuterus  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to Drosophila barr locus product
    Homologene
    FAMILY
  • barr gene family
  • CND2 (condensin subunit 2) family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in sister chromatid separation and modulation of topoisomerase II
  • essential for the structural integrity of centromeric heterochromatin during mitosis
  • regulatory subunit of the non-structural maintenance of chromosomes condensin I complex
    • CELLULAR PROCESS cell cycle, division
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • topoisomerase II
  • interacting with PARP1 (role in single-strand break damage repair)
  • CASP3-mediated degradation of condensin NCAPH regulates mitotic cell death
  • interacting with DICER1 and DDX3X (DDX3X and DICER1 are required in promoting chromosome segregation and chromosomal localization of NCAPH
    • cell & other
    REGULATION
    Other degraded by CASP3 (Caspase-3-mediated degradation of NCAPH regulates mitotic cell death)
    ASSOCIATED DISORDERS
    corresponding disease(s) MCPH23
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    is associated with poor survival of patients with Prostate carcinoma
    tumoral     --over  
    in colorectal cancer cell lines comparing with normal human colonic epithelial cells
    constitutional        
    results in the loss of condensin I complex at the chromosomes, thus affecting the integrity of the chromosomes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveprostate
    therapeutic target in Prostate carcinoma
    ANIMAL & CELL MODELS