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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
    Physical map
    LOC206227 5q13.1 similar to B-cell lymphoma 9 protein (Bcl-9) (Legless homolog) LOC359819 5q12.3 mitochondrial ribosomal protein L39 pseudogene EEF1B3 5q12-q14 eukaryotic translation elongation factor 1 beta 3 PIK3R1 5q12-q13 phosphoinositide-3-kinase, regulatory subunit, polypeptide 1 (p85 alpha) SLC30A5 5q12.1 solute carrier family 30 (zinc transporter), member 5 CCNB1 5q11-q12 cyclin B1 CENPH 5p15.2 centromere protein H MRPS36 5q13.3 mitochondrial ribosomal protein S36 CDK7 2p15-pcen cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase) KENAE 5q13.1 Kenae LOC285653 5q13.1 similar to chromosome 7 open reading frame 17 protein; 16.7kD protein TAF9 5q12 TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa RAD17 5q12-q13.1 RAD17 homolog (S. pombe) FLJ30532 5q13.1 hypothetical protein FLJ30532 OCLN 5q13.1 occludin GTF2H2 5q13.1 general transcription factor IIH, polypeptide 2, 44kDa BIRC1 5q13.1 baculoviral IAP repeat-containing 1 SMN1 5q13.1 survival of motor neuron 1, telomeric LOC391791 5 similar to cadherin 12, type 2 preproprotein; Br-cadherin; cadherin-12; N-cadherin 2; brain-cadherin; neuronal cadherin 2; cadherin, neural type, 2 SMA3 5q13 SMA3 LOC389294 5 similar to bA110H4.2 (similar to membrane protein) LOC391792 5 similar to SMA3 protein LOC340089 5q13.2 similar to bA110H4.2 (similar to membrane protein) LOC391793 5 similar to cadherin 12, type 2 preproprotein; Br-cadherin; cadherin-12; N-cadherin 2; brain-cadherin; neuronal cadherin 2; cadherin, neural type, 2 SERF1A 5q13.1 small EDRK-rich factor 1A (telomeric) SMN2 5q13.1 survival of motor neuron 2, centromeric LOC389295 5 LOC389295 LOC389296 5 similar to Beta-glucuronidase precursor (Beta-G1) LOC389297 5 similar to bA110H4.2 (similar to membrane protein)
    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