Property Summary

NCBI Gene PubMed Count 40
PubMed Score 122.42
PubTator Score 88.96

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
lung carcinoma 2844 1.25158405093379E-69
malignant mesothelioma 3163 9.47073178419167E-10
group 3 medulloblastoma 2254 1.61402566869247E-7
lung cancer 4473 4.09132072326127E-7
intraductal papillary-mucinous carcinoma (IPMC) 2988 2.28950042448333E-5
intraductal papillary-mucinous adenoma (IPMA) 2956 3.08451017160805E-5
pediatric high grade glioma 2712 3.8823890097757E-5
pilocytic astrocytoma 3086 9.35920308233928E-5
medulloblastoma, large-cell 6234 1.80670396791984E-4
atypical teratoid / rhabdoid tumor 4369 2.83162827670984E-4
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00176426343940364
glioblastoma 5572 0.00260896708327444
osteosarcoma 7933 0.00385565476657339
ovarian cancer 8492 0.00597793657244483
ependymoma 2514 0.0217697956092248
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

Expression

Synonym

Accession Q12756 B0I1S5 F5H045 O95068 Q13355 Q14752 Q2NKJ6 Q4LE42 Q53T78 Q59GH1 Q63Z40 Q6P1R9 Q7KZ57
Symbols ATSV
MRD9
HSN2C
SPG30
UNC104
C2orf20

Gene

PDB

4EGX   4EJQ   4UXO   4UXP   4UXR   4UXS  

  Ortholog (11)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG
Dog OMA Inparanoid
Horse OMA Inparanoid
Cow OMA Inparanoid
Opossum OMA Inparanoid
Platypus OMA Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid

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
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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.
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