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FLASH GENE
Symbol KIF7 contributors: mct/shn - updated : 03-11-2015
HGNC name kinesin family member 7
HGNC id 30497
Corresponding disease
ACLS2 acrocallosal syndrome 2
EDMM macrocephaly with multiple epiphyseal dysplasia and distinctive facies
HYSL2 hydrolethalus syndrome
Location 15q26.1      Physical location : 90.171.200 - 90.198.682
Synonym name
  • kinesin-like protein KIF7
  • Synonym symbol(s) UNQ340, COS2A, JBTS12, ACLS, HLS2
    DNA
    TYPE functioning gene
    STRUCTURE 27.48 kb     19 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D15S202 - D15S116 - KIF7 - D15S996 - D15S158 - qter
    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
  • 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