Property Summary

NCBI Gene PubMed Count 53
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 1.1e-04
ependymoma -2.500 7.3e-03
oligodendroglioma -2.100 1.2e-02
psoriasis 1.400 7.3e-05
glioblastoma -3.000 1.0e-07
osteosarcoma 1.487 8.5e-08
group 3 medulloblastoma -2.600 1.3e-03
atypical teratoid / rhabdoid tumor -3.300 1.3e-12
medulloblastoma, large-cell -2.900 2.0e-05
primitive neuroectodermal tumor -2.200 1.8e-04
lung cancer 2.600 4.3e-05
pediatric high grade glioma -2.100 2.9e-06
pilocytic astrocytoma -1.600 3.8e-05
subependymal giant cell astrocytoma -1.451 4.6e-02
lung carcinoma 4.100 6.4e-56
Pick disease -1.400 5.5e-04
ovarian cancer 1.200 1.6e-10
facioscapulohumeral dystrophy 3.000 2.2e-07

 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.
21231887 Kinesin (KIF5A) can be potentially used as a blood biomarker to identify asbestosis patients at risk of developing lung cancer.
21107874 Molecular genetic analysis identified a new missense mutation of KIF5A gene causing hereditary spastic paraplegia
21044781 Observational study of gene-disease association. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20508602 rs1678542 in KIF5A confers susceptibility for multiple sclerosis.
20508602 Observational study of gene-disease association. (HuGE Navigator)
20498205 Meta-analysis of gene-disease association. (HuGE Navigator)
20444755 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20439292 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
20219786 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20049410 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19674979 Observational study of gene-disease association. (HuGE Navigator)
19644859 Observational study of gene-disease association. (HuGE Navigator)
19110536 Observational study of gene-disease association. (HuGE Navigator)
18853458 SPG10 mutations were found in 10% of our complicated forms of Hereditary spastic paraplegias (HSP), suggesting that mutations in KIF5A represent the major cause of complicated autosomal dominant hereditary spastic paraplegia in France.
18640125 The neck linker and the neck are involved not only in motility generation in general and in determination of movement direction, but also in velocity regulation.
18500496 In this study identified a novel missense mutation in KIF5A in an Italy family.
18245137 Three novel KIF5A mutations were detected in German families, including one missense mutation (c.759G>T, p.K253N), one in frame deletion (c.768_770delCAA, p.N256del) and one splice site mutation (c.217G>A).
18203753 All mutations in KIF5A are single amino-acid exchanges and located in kinesin's motor or neck domain and the mutation in the neck (A361V) did not change the gliding properties in vitro.
17420921 Observational study of gene-disease association. (HuGE Navigator)
16489470 novel missense mutation in the KIF5A gene in a large kindred with uncomplicated autosomal dominant hereditary spastic paraplegia with an adult age of symptom onset
15452312 An autosomal dominant phenotype for hereditary spastic paraplegia is due to a new missense mutation 838C>T (R280C) at an invariant arginine residue in a region involved in the microtubule-binding activity.
12355402 identification of a missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia

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.
22788249 2013 Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.
22785106 2013 Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia.
22705394 2012 A molecular network for the transport of the TI-VAMP/VAMP7 vesicles from cell center to periphery.
21623771 2012 Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.
21269460 2011 Initial characterization of the human central proteome.
21231887 2011 Proteomic detection of cancer in asbestosis patients using SELDI-TOF discovered serum protein biomarkers.
21107874 2011 A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.
21044781 2011 Genetic variants of connexin37 are associated with carotid intima-medial thickness and future onset of ischemic stroke.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20508602 2010 The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis.
20498205 2010 Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers.
20444755 2010 Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment.
20439292 2010 Genetic variants in the prediction of rheumatoid arthritis.
20386726 2010 Bicaudal D2, dynein, and kinesin-1 associate with nuclear pore complexes and regulate centrosome and nuclear positioning during mitotic entry.
20219786 2011 The role of rheumatoid arthritis genetic susceptibility markers in the prediction of erosive disease in patients with early inflammatory polyarthritis: results from the Norfolk Arthritis Register.
20049410 2010 A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis.
19946888 2010 Defining the membrane proteome of NK cells.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19674979 2010 Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis.
19644859 2009 Association of a single-nucleotide polymorphism in CD40 with the rate of joint destruction in rheumatoid arthritis.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19110536 2009 Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus.
18853458 2009 Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
18794853 2008 Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
18640125 2008 The role of Kinesin neck linker and neck in velocity regulation.
18500496 2008 A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.
18245137 2008 SPG10 is a rare cause of spastic paraplegia in European families.
18203753 2008 Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17420921 2007 The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome.
16489470 2006 Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia.
16476820 2006 A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15452312 2004 Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia.
14600269 2003 Beta-dystrobrevin interacts directly with kinesin heavy chain in brain.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12355402 2002 A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
11986669 2002 Glutamate-receptor-interacting protein GRIP1 directly steers kinesin to dendrites.
10964943 2000 KIF5C, a novel neuronal kinesin enriched in motor neurons.
10491391 1999 Defective kinesin heavy chain behavior in mouse kinesin light chain mutants.
10441583 1999 A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.
9858832 1998 Assignment of GALGT encoding beta-1, 4N-acetylgalactosaminyl-transferase (GalNAc-T) and KIF5A encoding neuronal kinesin (D12S1889) to human chromosome band 12q13 by assignment to ICI YAC 26EG10 and in situ hybridization. medjph@stjames.leeds.ac.uk.
9624122 1998 Two kinesin light chain genes in mice. Identification and characterization of the encoded proteins.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7514426 1994 Cloning and localization of a conventional kinesin motor expressed exclusively in neurons.