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FLASH GENE
Symbol CEP131 contributors: mct/npt - updated : 02-04-2017
HGNC name centrosomal protein 131
HGNC id 29511
Location 17q25.3      Physical location : -
Synonym name
  • murine acrosomal protein A21 homolog
  • likely ortholog of mouse 5-azacytidine induced gene 1
  • pre-acrosome localization protein 1
  • 5-azacytidine induced 1
  • Synonym symbol(s) KIAA1118, AZ1, AZI1, ZA1
    DNA
    TYPE functioning gene
    STRUCTURE 33.36 kb     26 Exon(s)
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure
  • direct binding of SP1 to the CEP131 promoter
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 3630 - 1080 - Andersen (2003)
    25 - 3522 - 1044 - Andersen (2003)
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivespermatid
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an IQ domain
  • a putative HDAC (histone deacetylase) interacting domain (Wilkinson 2009)
  • HOMOLOGY
    interspecies homolog to murine acrosomal protein A21
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • localized to the preacrosome region of spermatids (Aoto 1997)
  • centrosomal localisation of CEP131 is cell-cycle-regulated and requires both an intact microtubule network and a functional dynein-dynactin transport system
  • basic FUNCTION
  • role in making the cilium and involved in determination of the length of the axoneme (Wilkinson 2009)
  • importance of human CEP131 for maintaining genomic integrity
  • is a critical factor for cilia formation which is related with development, signaling, and various diseases, the malfunction of cilia leading to cancer
  • required for cilia formation
  • plays a conserved, but non-essential trafficking role in ciliogenesis, and mediates novel trafficking functions necessary for flagellogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is recruited to centriolar satellites by PCM1, and localised to the centriolar core region by both pericentrin and CEP290
  • crucial role of SP1 in the regulation of CEP131 gene transcription
  • MIB1 is a new component of centriolar satellites, which interacts with and ubiquitylates CEP131 and PCM1 and suppresses primary cilium formation
  • centriolar satellite protein, interacting with the BBSome and regulating BBSome ciliary trafficking activity, through BBS4
  • CEP152 interacting with CEP131
  • SDCCAG8 interacts with proteins of the centriolar satellites (OFD1, CEP131), of the endosomal sorting complex (RABEP2, ERC1), and with non-muscle myosin motor proteins (MYH9, MYH10, MYH14) at the centrosome
  • centriolar satellite protein, CEP131, is a direct NRDE2-regulated target
  • NRDE2 specifically binds to and promotes the efficient splicing of CEP131 pre-mRNA, and depleting NRDE2 dramatically reduces CEP131 protein expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • in the highly specialised sperm flagella, the loss of Azi1 is not compensated, leading to striking microtubule-based trafficking defects in both the manchette and the flagella, resulting in murine male infertility