Property Summary

NCBI Gene PubMed Count 53
Grant Count 33
R01 Count 21
Funding $3,660,098.13
PubMed Score 51.60
PubTator Score 57.56

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
astrocytoma -2.800 0.000
ependymoma -2.500 0.007
oligodendroglioma -2.100 0.012
psoriasis 1.400 0.000
glioblastoma -3.000 0.000
osteosarcoma 1.487 0.000
group 3 medulloblastoma -2.600 0.001
atypical teratoid / rhabdoid tumor -3.300 0.000
medulloblastoma, large-cell -2.900 0.000
primitive neuroectodermal tumor -2.200 0.000
lung cancer 2.600 0.000
pediatric high grade glioma -2.100 0.000
pilocytic astrocytoma -1.600 0.000
subependymal giant cell astrocytoma -1.451 0.046
lung carcinoma 4.100 0.000
Pick disease -1.400 0.001
ovarian cancer 1.200 0.000
facioscapulohumeral dystrophy 3.000 0.000

 GWAS Trait (1)

Gene RIF (34)

PMID Text
26403765 study describes 2 Spanish families with an adult onset complicated autosomal dominant hereditary spastic paraplegia with a mild sensory neuropathy; identified 2 novel mutations c.773 C>T and c.833 C>T in the KIF5A gene resulting in the P258L and P278L substitutions; both were located in the highly conserved kinesin motor domain of the protein
25348260 Kinesin-14 blocks microtubule nucleation in yeast and reveal that this inhibition is countered by the kinesin-5 protein, Cut7.[Cut7, Pkl1]
25008398 Combining next-generation sequencing and conventional sequencing, study confirms that KIF5A mutations can cause variable phenotypes ranging from hereditary spastic paraplegia to Charcot-Marie-Tooth disease type 2
24939576 the novel mutation p.Leu259Gln in two siblings affected by Hereditary spastic paraplegia (HSP) complicated by deafness and in their father with a pure form of HSP.
24449904 Conformations of microtubule-bound human kinesin-5 motor domain were visualised at successive steps in its ATPase cycle.
23744071 Data suggest that the impairment of the microtubule-kinesin function by alpha-synuclein oligomers drives early neurite pathology.
23217743 These results provide an insight into the molecular mechanisms of KIF5A, which regulate inhibitory neural transmission and KIF5A deletion causes epilepsy.
22788249 This study extends the phenotype of SPG10 and argues for abnormalities in the axonal vesicular transport.
22785106 A review of the mechanism of pathogenesis involved in spastic paraplegia type 10 when KIF5A is inactivated by mutations.
21623771 The results obtained indicate a KIF5A mutation frequency of 8.8% in the Italian HSP population and identify a region of the kinesin protein, the stalk domain, as a novel target for mutation.
More...

AA Sequence

MAETNNECSIKVLCRFRPLNQAEILRGDKFIPIFQGDDSVVIGGKPYVFDRVFPPNTTQEQVYHACAMQI      1 - 70
VKDVLAGYNGTIFAYGQTSSGKTHTMEGKLHDPQLMGIIPRIARDIFNHIYSMDENLEFHIKVSYFEIYL     71 - 140
DKIRDLLDVTKTNLSVHEDKNRVPFVKGCTERFVSSPEEILDVIDEGKSNRHVAVTNMNEHSSRSHSIFL    141 - 210
INIKQENMETEQKLSGKLYLVDLAGSEKVSKTGAEGAVLDEAKNINKSLSALGNVISALAEGTKSYVPYR    211 - 280
DSKMTRILQDSLGGNCRTTMFICCSPSSYNDAETKSTLMFGQRAKTIKNTASVNLELTAEQWKKKYEKEK    281 - 350
EKTKAQKETIAKLEAELSRWRNGENVPETERLAGEEAALGAELCEETPVNDNSSIVVRIAPEERQKYEEE    351 - 420
IRRLYKQLDDKDDEINQQSQLIEKLKQQMLDQEELLVSTRGDNEKVQRELSHLQSENDAAKDEVKEVLQA    421 - 490
LEELAVNYDQKSQEVEEKSQQNQLLVDELSQKVATMLSLESELQRLQEVSGHQRKRIAEVLNGLMKDLSE    491 - 560
FSVIVGNGEIKLPVEISGAIEEEFTVARLYISKIKSEVKSVVKRCRQLENLQVECHRKMEVTGRELSSCQ    561 - 630
LLISQHEAKIRSLTEYMQSVELKKRHLEESYDSLSDELAKLQAQETVHEVALKDKEPDTQDADEVKKALE    631 - 700
LQMESHREAHHRQLARLRDEINEKQKTIDELKDLNQKLQLELEKLQADYEKLKSEEHEKSTKLQELTFLY    701 - 770
ERHEQSKQDLKGLEETVARELQTLHNLRKLFVQDVTTRVKKSAEMEPEDSGGIHSQKQKISFLENNLEQL    771 - 840
TKVHKQLVRDNADLRCELPKLEKRLRATAERVKALEGALKEAKEGAMKDKRRYQQEVDRIKEAVRYKSSG    841 - 910
KRGHSAQIAKPVRPGHYPASSPTNPYGTRSPECISYTNSLFQNYQNLYLQATPSSTSDMYFANSCTSSGA    911 - 980
TSSGGPLASYQKANMDNGNATDINDNRSDLPCGYEAEDQAKLFPLHQETAAS                      981 - 1032
//

Text Mined References (56)

PMID Year Title
26403765 2015 Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy.
25898167 2015 BORC, a multisubunit complex that regulates lysosome positioning.
25348260 2014 Kinesin-14 and kinesin-5 antagonistically regulate microtubule nucleation by ?-TuRC in yeast and human cells.
25008398 2014 Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.
24939576 2014 A novel KIF5A mutation in an Italian family marked by spastic paraparesis and congenital deafness.
24449904 2014 Comprehensive structural model of the mechanochemical cycle of a mitotic motor highlights molecular adaptations in the kinesin family.
24449572 2014 Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study.
24161670 2013 Delineation of the TRAK binding regions of the kinesin-1 motor proteins.
23744071 2013 ?-Synuclein oligomers impair neuronal microtubule-kinesin interplay.
23217743 2012 Molecular motor KIF5A is essential for GABA(A) receptor transport, and KIF5A deletion causes epilepsy.
More...