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FLASH GENE
Symbol KIF7 contributors: mct/shn - updated : 06-03-2024
HGNC name kinesin family member 7
HGNC id 30497
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
19 - 4575 - 1343 - 2004 15547729
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
one vwfc domain
HOMOLOGY
interspecies homolog to Costal2, drosophila
ortholog to Kif7, Mus musculus
ortholog to kif7, danio rerio
ortholog to Kif7, Rattus norvegicus
ortholog to KIF7, Pan troglodytes
intraspecies paralog to KIF27
Homologene
FAMILY fibrillar collagen family
CATEGORY signaling
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytoskeleton,microfilament
basic FUNCTION
  • implicated in Hedgehog pathway through the interaction with Smoothened (SMO), Fused (STK36), and microtubules
  • requirement in the efficient localization of GLI3 to cilia in response to HH and for the processing of GLI3 to its repressor form
  • potential role in coordinating HH signal transduction at the tip of cilia and preventing GLI3 cleavage into a repressor form in the presence of HH
  • cilia-associated protein that regulates signaling from the membrane protein Smoothened (SMO) to GLI transcription factors
  • core regulator of SHH signaling that may also act as a ciliary motor
  • essential regulator of Indian hedgehog signaling
  • plays a role in the turnover of Sufu and regulates the activity of Gli transcription factors
  • SUFU and KIF7 are crucial components in the regulation of GLI2 localization and activity, illustrating their overlapping functions in skin development and tumor suppression
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • STK36, SMO
  • is required to establish high intracellular GLI activity by antagonizing the SUFU-inhibition of GLI2
  • PPFIA1 functioned with PPP2CA to promote the dephosphorylation of KIF7, triggering KIF7 localization to the tips of primary cilia and promoting GLI transcriptional activity
  • perturbations of SUFU and KIF7 affect GLI activity and recapitulate the full spectrum of vertebrate limb defects, ranging from severe truncation to polydactyly
  • ciliary tip kinesins KIF7 and KIF17 are novel interaction partners of the small GTPase ARL3 and its regulatory GTPase activating protein (GAP) Retinitis Pigmentosa 2 (RP2)
  • ZNF131 activity notably promotes expression of Joubert Syndrome ciliopathy genes, including KIF7, NPHP1, and TMEM237, as well as HAUS5, a component of Augmin/HAUS complex that facilitates microtubule nucleation along the mitotic spindle
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACLS2 , HYSL2 , EDMM
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS