Property Summary

NCBI Gene PubMed Count 40
PubMed Score 122.42
PubTator Score 88.96

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

Expression

  Differential Expression (15)

Disease log2 FC p
malignant mesothelioma 7.100 9.5e-10
ependymoma -1.600 2.2e-02
glioblastoma -2.100 2.6e-03
osteosarcoma 1.461 3.9e-03
group 3 medulloblastoma -2.700 1.6e-07
atypical teratoid / rhabdoid tumor -1.800 2.8e-04
medulloblastoma, large-cell -1.700 1.8e-04
intraductal papillary-mucinous adenoma (... -1.900 3.1e-05
intraductal papillary-mucinous carcinoma... -2.100 2.3e-05
intraductal papillary-mucinous neoplasm ... -1.800 1.8e-03
lung cancer 4.400 4.1e-07
pediatric high grade glioma -2.100 3.9e-05
pilocytic astrocytoma -1.800 9.4e-05
lung carcinoma 4.300 1.3e-69
ovarian cancer 1.100 6.0e-03

Gene RIF (17)

PMID Text
26410750 KIF1A variants in dominant and sporadic forms of hereditary spastic paraparesis.
26354034 This study further delineates clinical features of de novo KIF1A mutations
25818806 The ability of exogenously expressed FEZ1 binding to kinesin-1 to promote early HIV-1 infection, leading to the movement of HIV-1 CA core to the nucleus
25585697 KIF1A should be considered a candidate gene for hereditary paraplegias regardless of inheritance pattern.
25265257 Findings provide evidence that de novo missense mutations in the motor domain of KIF1A cause a more severe phenotype that overlaps with that associated with recessive mutations in the same gene.
24927296 Data demonstrated that KIF1A promoter methylation can distinguish breast cancer cases from controls in plasma and was inversely associated with DNA repair capacity.
23669038 This study establishes an essential role of the CC1-FHA dimer for KIF1A/unc-104-mediated neuronal transport.
23404705 Cytoplasmic dynein is active during minus- and plus-end directed motion, whereas kinesin is only active in the plus direction.
22863567 The CC1-FHA tandem likely functions as a hub for controlling the dimerization and activation of KIF1A.
22258533 mutations in the KIF1A gene are responsible for SPG30 in two autosomal recessive HSP families
21824248 The authors find that Arl8B is required for kinesin-1 recruitment to Salmonella-containing vacuoles, migration of the vacuoles to the cell periphery 24 h after infection and for cell-to-cell transfer of bacteria to neighbouring cells.
21820098 Mutations in KIF1A are a rare cause of hereditary sensory and autonomic neuropathy type 2.
21487076 A mutation in KIF1A is associated with a pure form of hereditary spastic paraparesis. (HSP) cases in a single inbred family.
20162572 Promoter hypermethylation of KIF1A and EDNRB is a frequent event in primary HNSCC, and these genes are preferentially methylated in salivary rinses from HNSCC patients.
16946706 cryo-electron microscopy structures of the monomeric kinesin KIF1A-microtubule complex in two nucleotide states at about 10 A resolution, sufficient to reveal the secondary structure
15014437 Results suggest that the intramolecular FHA-CC2 interaction negatively regulates KIF1A activity by inhibiting MT binding and dimerization of KIF1A, and point to a novel role of the FHA domain in the regulation of kinesin motors.
12435738 KIF1A mediates neuronal transport at a high velocity and processivity in vivo

AA Sequence

MAGASVKVAVRVRPFNSREMSRDSKCIIQMSGSTTTIVNPKQPKETPKSFSFDYSYWSHTSPEDINYASQ      1 - 70
KQVYRDIGEEMLQHAFEGYNVCIFAYGQTGAGKSYTMMGKQEKDQQGIIPQLCEDLFSRINDTTNDNMSY     71 - 140
SVEVSYMEIYCERVRDLLNPKNKGNLRVREHPLLGPYVEDLSKLAVTSYNDIQDLMDSGNKARTVAATNM    141 - 210
NETSSRSHAVFNIIFTQKRHDAETNITTEKVSKISLVDLAGSERADSTGAKGTRLKEGANINKSLTTLGK    211 - 280
VISALAEMDSGPNKNKKKKKTDFIPYRDSVLTWLLRENLGGNSRTAMVAALSPADINYDETLSTLRYADR    281 - 350
AKQIRCNAVINEDPNNKLIRELKDEVTRLRDLLYAQGLGDITDMTNALVGMSPSSSLSALSSRAASVSSL    351 - 420
HERILFAPGSEEAIERLKETEKIIAELNETWEEKLRRTEAIRMEREALLAEMGVAMREDGGTLGVFSPKK    421 - 490
TPHLVNLNEDPLMSECLLYYIKDGITRVGREDGERRQDIVLSGHFIKEEHCVFRSDSRGGSEAVVTLEPC    491 - 560
EGADTYVNGKKVTEPSILRSGNRIIMGKSHVFRFNHPEQARQERERTPCAETPAEPVDWAFAQRELLEKQ    561 - 630
GIDMKQEMEQRLQELEDQYRREREEATYLLEQQRLDYESKLEALQKQMDSRYYPEVNEEEEEPEDEVQWT    631 - 700
ERECELALWAFRKWKWYQFTSLRDLLWGNAIFLKEANAISVELKKKVQFQFVLLTDTLYSPLPPDLLPPE    701 - 770
AAKDRETRPFPRTIVAVEVQDQKNGATHYWTLEKLRQRLDLMREMYDRAAEVPSSVIEDCDNVVTGGDPF    771 - 840
YDRFPWFRLVGRAFVYLSNLLYPVPLVHRVAIVSEKGEVKGFLRVAVQAISADEEAPDYGSGVRQSGTAK    841 - 910
ISFDDQHFEKFQSESCPVVGMSRSGTSQEELRIVEGQGQGADVGPSADEVNNNTCSAVPPEGLLLDSSEK    911 - 980
AALDGPLDAALDHLRLGNTFTFRVTVLQASSISAEYADIFCQFNFIHRHDEAFSTEPLKNTGRGPPLGFY    981 - 1050
HVQNIAVEVTKSFIEYIKSQPIVFEVFGHYQQHPFPPLCKDVLSPLRPSRRHFPRVMPLSKPVPATKLST   1051 - 1120
LTRPCPGPCHCKYDLLVYFEICELEANGDYIPAVVDHRGGMPCMGTFLLHQGIQRRITVTLLHETGSHIR   1121 - 1190
WKEVRELVVGRIRNTPETDESLIDPNILSLNILSSGYIHPAQDDRTFYQFEAAWDSSMHNSLLLNRVTPY   1191 - 1260
REKIYMTLSAYIEMENCTQPAVVTKDFCMVFYSRDAKLPASRSIRNLFGSGSLRASESNRVTGVYELSLC   1261 - 1330
HVADAGSPGMQRRRRRVLDTSVAYVRGEENLAGWRPRSDSLILDHQWELEKLSLLQEVEKTRHYLLLREK   1331 - 1400
LETAQRPVPEALSPAFSEDSESHGSSSASSPLSAEGRPSPLEAPNERQRELAVKCLRLLTHTFNREYTHS   1401 - 1470
HVCVSASESKLSEMSVTLLRDPSMSPLGVATLTPSSTCPSLVEGRYGATDLRTPQPCSRPASPEPELLPE   1471 - 1540
ADSKKLPSPARATETDKEPQRLLVPDIQEIRVSPIVSKKGYLHFLEPHTSGWARRFVVVRRPYAYMYNSD   1541 - 1610
KDTVERFVLNLATAQVEYSEDQQAMLKTPNTFAVCTEHRGILLQAASDKDMHDWLYAFNPLLAGTIRSKL   1611 - 1680
SRRRSAQMRV                                                               1681 - 1690
//

Text Mined References (42)

PMID Year Title
27034427 2016 Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
26410750 2015 Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.
26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.
26125038 2015 De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
25585697 2015 Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.
25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
24927296 2014 Differential promoter methylation of kinesin family member 1a in plasma is associated with breast cancer and DNA repair capacity.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
23669038 2013 The CC1-FHA dimer is essential for KIF1A-mediated axonal transport of synaptic vesicles in C. elegans.
23404705 2013 In vivo optical trapping indicates kinesin's stall force is reduced by dynein during intracellular transport.
22863567 2012 The CC1-FHA tandem as a central hub for controlling the dimerization and activation of kinesin-3 KIF1A.
22258533 2012 KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.
21824248 2011 Salmonella exploits Arl8B-directed kinesin activity to promote endosome tubulation and cell-to-cell transfer.
21820098 2011 KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21487076 2011 Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
20162572 2010 KIF1A and EDNRB are differentially methylated in primary HNSCC and salivary rinses.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
16946706 2006 High-resolution cryo-EM maps show the nucleotide binding pocket of KIF1A in open and closed conformations.
16434418 2006 Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15014437 2004 An intramolecular interaction between the FHA domain and a coiled coil negatively regulates the kinesin motor KIF1A.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12522103 2003 Association of the kinesin motor KIF1A with the multimodular protein liprin-alpha.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12435738 2003 Characterization of the movement of the kinesin motor KIF1A in living cultured neurons.
11701947 2001 Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
10323250 1999 Mapping of the kinesin-related gene ATSV to chromosome 2q37.
9110174 1997 Large-scale concatenation cDNA sequencing.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8661001 1996 Characterization of a kinesin-related gene ATSV, within the tuberous sclerosis locus (TSC1) candidate region on chromosome 9Q34.
8619474 1996 A "double adaptor" method for improved shotgun library construction.
7937745 1994 Construction and characterization of a normalized cDNA library.
7539720 1995 The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors.
1846075 1991 The C. elegans unc-104 gene encodes a putative kinesin heavy chain-like protein.
1538749 1992 Sequence identification of 2,375 human brain genes.