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FLASH GENE
Symbol TAPT1 contributors: mct - updated : 10-11-2015
HGNC name transmembrane anterior posterior transformation 1
HGNC id 26887
Corresponding disease
MOPDL microcephalic osteodysplastic primordial dwarfism lethal
Location 4p15.32      Physical location : 16.162.127 - 16.228.161
Synonym symbol(s) CMVFR
DNA
TYPE functioning gene
STRUCTURE 66.65 kb     14 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 4610 - 567 - 2000 10640539
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
several transmembrane domains
HOMOLOGY
Homologene
FAMILY
CATEGORY DNA associated
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,organelle,Golgi
intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
text
  • defective TAPT1 mislocalizes to the cytoplasm and disrupts Golgi morphology and trafficking and normal primary cilium formation
    • basic FUNCTION
  • centrosome and/or ciliary basal body protein that could have a dual role in cartilage and bone development
  • as a centrosomal protein, TAPT1 affects intracellular protein trafficking and organization of cellular organelles, such as the Golgi apparatus
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • is likeley a downstream effector of HOXC8 that may act by transducing or transmitting extracellular information required for axial skeletal patterning during development
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MOPDL
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • knockdown of Tapt1b in zebrafish induces severe craniofacial cartilage malformations and delayed ossification, which is shown to be associated with aberrant differentiation of cranial neural crest cells