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FLASH GENE
Symbol CSPP1 contributors: mct - updated : 21-01-2014
HGNC name centrosome and spindle pole associated protein 1
HGNC id 26193
DNA
TYPE functioning gene
STRUCTURE 132.26 kb     29 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
29 - 4735 - 1221 - 2014 24360803
  • CSPP-L
  • having five coiled-coil domains
  • differ from CSPP-T by the transcriptional start site and the alternative splicing of an exon
  • endogenous CSPP isoforms not only localize to centrosomes and the midbody in cycling cells but also extend to the cilia axoneme in postmitotic resting cells
  • - - - - 876 - 2014 24360803
  • CSPP-T
  • differ from CSPP-L by the transcriptional start site and the alternative splicing of an exon, resulting in both long and short isoforms
  • endogenous CSPP isoforms not only localize to centrosomes and the midbody in cycling cells but also extend to the cilia axoneme in postmitotic resting cells
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Digestiveliver     Homo sapiens
    Nervousbrainforebraincerebral cortex   Homo sapiensAdult
     brainbasal nucleicorpus callosum   Homo sapiensAdult
     brainhindbrainpons   Homo sapiensAdult
     brainhindbraincerebellum   Homo sapiensAdult
     brainforebraincerebral cortex   Homo sapiensFetal
     brainhindbraincerebellum  Homo sapiensFetal
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a tripartite domain structure, where the N- and C-terminal domains are linked through a coiled-coil mid-domain
  • five coiled-coil domains
  • a nuclear localization signal,
  • four serine phosphorylation sites, but no other notable protein domains
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • localize to the basal body and axoneme of primary cilia
  • found to localize in the central spindles during metaphase and the central furrow during anaphase and cytokinesis
  • basic FUNCTION
  • involved in cell-cycle regulation
  • may play a role in the regulation of G(1)/S-phase progression and spindle assembly
  • interacts with and recruits PLEKHG6 to the central spindle, where PLEKHG6 contributes to the spatiotemporal regulation of cytokinesis
  • may be involved in further cytoskeletal organization of the basal body and its primary cilium
  • crucial for normal renal and retinal tissue architecture and physiology
  • might be involved in the control of cilia length
  • might participate in the IFT-dependent localization of axonemal proteins required for skeletal development
  • involved in neural-specific functions of primary cilia
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PLEKHG6 interacts with centrosome/spindle pole-associated protein (CSPP), which is concentrated at the spindle pole and central spindle during mitosis and cytokinesis (C-terminus of PLEKHG6 and N-terminus of CSPP1 are required for their interaction)
  • required for localization of AC3 and ARL13B to the primary cilium
  • binds RPGRIP1L (NPHP8) and NPHP4 in a complex, providing additional evidence that CSPP1 functions at the transition zone
  • cell & other
    REGULATION
    inhibited by by small interfering RNAs induced cell-cycle arrest/delay in S phase
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS21
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS