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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KIF5A Gene

protein-coding   GIFtS: 66
GCID: GC12P057943

Kinesin Family Member 5A

(Previous name: spastic paraplegia 10 (autosomal dominant))
(Previous symbol: SPG10)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Kinesin Family Member 5A1 2     D12S18892
SPG101 2 5     MY0502
NKHC2 3 5     KIF5A Variant Protein2
Kinesin Heavy Chain Neuron-Specific 12 3     Kinesin Heavy Chain Isoform 5A2
Neuronal Kinesin Heavy Chain2 3     Kinesin, Heavy Chain, Neuron-Specific2
Spastic Paraplegia 10 (Autosomal Dominant)1     NKHC13

External Ids:    HGNC: 63231   Entrez Gene: 37982   Ensembl: ENSG000001559807   OMIM: 6028215   UniProtKB: Q128403   

Export aliases for KIF5A gene to outside databases

Previous GC identifers: GC12M059133 GC12P058087 GC12P057660 GC12P056230 GC12P054981


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KIF5A Gene:
This gene encodes a member of the kinesin family of proteins. Members of this family are part of a multisubunit
complex that functions as a microtubule motor in intracellular organelle transport. Mutations in this gene cause
autosomal dominant spastic paraplegia 10. (provided by RefSeq, Jul 2008)

GeneCards Summary for KIF5A Gene: 
KIF5A (kinesin family member 5A) is a protein-coding gene. Diseases associated with KIF5A include autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation, and spastic paraplegia 10, and among its related super-pathways are Cytoskeleton remodeling Neurofilaments and Immune System. GO annotations related to this gene include motor activity and microtubule motor activity. An important paralog of this gene is KIF3A.

UniProtKB/Swiss-Prot: KIF5A_HUMAN, Q12840
Function: Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and
NFL) (By similarity)

Gene Wiki entry for KIF5A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KIF5A gene promoter:
         PPAR-gamma1   SREBP-1a   HOXA3   SREBP-1c   CUTL1   PPAR-gamma2   SREBP-1b   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIF5A promoter sequence
   Search SABiosciences Chromatin IP Primers for KIF5A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIF5A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q13.13   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q13.13

KIF5A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIF5A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P057943:  view genomic region     (about GC identifiers)

Start:
57,943,781 bp from pter      End:
57,980,415 bp from pter
Size:
36,635 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KIF5A_HUMAN, Q12840 (See protein sequence)
Recommended Name: Kinesin heavy chain isoform 5A  
Size: 1032 amino acids; 117378 Da
Subunit: Oligomer composed of two heavy chains and two light chains. Interacts with GRIP1 (By similarity)
Subcellular location: Cytoplasm, perinuclear region (By similarity). Cytoplasm, cytoskeleton (By similarity).
Note=Concentrated in the cell body of the neurons, particularly in the perinuclear region (By similarity)
Sequence caution: Sequence=BAE06127.1; Type=Erroneous initiation;
Secondary accessions: A6H8M5 Q4LE26

Explore the universe of human proteins at neXtProt for KIF5A: NX_Q12840

Explore proteomics data for KIF5A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q12840

  • KIF5A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KIF5A Protein Expression
    REFSEQ proteins: NP_004975.2  
    ENSEMBL proteins: 
     ENSP00000408979   ENSP00000286452  
    Reactome Protein details: Q12840
    Human Recombinant Protein Products for KIF5A: 
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    Cloud-Clone Corp. Proteins for KIF5A 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005871kinesin complex IEA--
    GO:0005874microtubule IEA--
    GO:0005875microtubule associated complex ----
    GO:0016020membrane TAS7514426

    KIF5A for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    KIF: Kinesins

    3 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR001752 Kinesin_motor_dom
     IPR019821 Kinesin_motor_CS

    Graphical View of Domain Structure for InterPro Entry Q12840

    ProtoNet protein and cluster: Q12840

    1 Blocks protein domain: IPB001752 Kinesin

    UniProtKB/Swiss-Prot: KIF5A_HUMAN, Q12840
    Domain: Composed of three structural domains: a large globular N-terminal domain which is responsible for the
    motor activity of kinesin (it hydrolyzes ATP and binds microtubule), a central alpha-helical coiled coil domain
    that mediates the heavy chain dimerization; and a small globular C-terminal domain which interacts with other
    proteins (such as the kinesin light chains), vesicles and membranous organelles
    Similarity: Belongs to the kinesin-like protein family. Kinesin subfamily
    Similarity: Contains 1 kinesin-motor domain


    KIF5A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KIF5A_HUMAN, Q12840
    Function: Microtubule-dependent motor required for slow axonal transport of neurofilament proteins (NFH, NFM and
    NFL) (By similarity)

         Genatlas biochemistry entry for KIF5A:
    kinesin heavy chain member 3A,involved in neuronal cellular functioning,amplified in certain tumors,homolog to
    Drosophila costal 2, associating to cubitus interruptus (CI) in the hedgehog pathways

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003774motor activity TAS7514426
    GO:0003777microtubule motor activity IEA--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IEA--
         
    KIF5A for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for KIF5A:
     Increased cell number in G2M,   Synthetic lethal with paclitax 

         8 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Kif5a):
     behavior/neurological  cellular  growth/size  homeostasis/metabolism  mortality/aging 
     nervous system  normal  respiratory system 

    KIF5A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KIF5A: Kif5atm1Gsn Kif5atm1.1Noh

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KIF5A 
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    SwitchGear 3'UTR luciferase reporter plasmidKIF5A 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KIF5A About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Neurofilaments0.91
    Cytoplasmic microtubules0.32
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56
    3MHC class II antigen presentation
    MHC class II antigen presentation0.32
    Kinesins0.32
    4Platelet activation, signaling and aggregation
    Hemostasis0.43
    5Circadian entrainment
    Dopaminergic synapse0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for KIF5A
        Cytoskeleton remodeling Neurofilaments
    Cytoplasmic microtubules


    1 GeneGo (Thomson Reuters) Pathway for KIF5A
        Cytoskeleton remodeling Neurofilaments

    5/6        Reactome Pathways for KIF5A (see all 6)
        Hemostasis
    Factors involved in megakaryocyte development and platelet production
    Adaptive Immune System
    Immune System
    Kinesins


    1         Kegg Pathway  (Kegg details for KIF5A):
        Dopaminergic synapse


    KIF5A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIF5A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/57 Interacting proteins for KIF5A (Q128401, 2, 3 ENSP000002864524) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITSN1Q158112, 3, ENSP000003707194MINT-64263 I2D: score=6 STRING: ENSP00000370719
    SMN1Q166372, 3MINT-8271245 I2D: score=2 
    SMN2Q166372, 3MINT-8271245 I2D: score=2 
    TP53BP2Q136252, 3MINT-64142 I2D: score=5 
    KCNE3Q9Y6H62, 3MINT-8259095 I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007018microtubule-based movement TAS--
    GO:0007268synaptic transmission TAS7514426
    GO:0007596blood coagulation TAS--
    GO:0008219cell death IEA--
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--

    KIF5A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KIF5A

    Search CenterWatch for drugs/clinical trials and news about KIF5A

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KIF5A gene: 
    NM_004984.2  

    Unigene Cluster for KIF5A:

    Kinesin family member 5A
    Hs.151219  [show with all ESTs]
    Unigene Representative Sequence: AB290174
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000455537(uc001sor.1 uc010srr.1) ENST00000286452 ENST00000552227

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    Additional mRNA sequence: 

    AB210045.1 AB290174.1 AF063608.1 AK294881.1 AK312145.1 AK315202.1 BC033961.2 BC035285.1 
    BC051752.1 BC140009.1 BC146670.1 BC150208.1 U06698.1 

    3 DOTS entries:

    DT.95362476  DT.97830127  DT.91730278 

    24/141 AceView cDNA sequences (see all 141):

    AL118561 BM930000 BP359999 AA504697 BU101907 AL539539 AI291420 AI304249 
    AI458287 CR603244 BX505432 BM709780 AI306413 T07477 NM_004984 BX953903 
    BM684916 T06416 AI479755 BE504244 M78156 M62197 BQ881829 BP350231 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KIF5A expression in normal human tissues (normalized intensities)      KIF5A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGCGTGGA
    KIF5A Expression
    About this image


    KIF5A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Endothelial Cells Blood Brain Barrier
             Thalamus
             brain/forebrain/telencephalon   
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Endochondral Facial Bones
             skeleton/pectoral girdle and thoracic body wall/scapula   
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 5 entries
             autonomic/sympathetic/ganglion   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Meckel's Cartilage
             skeleton/cranium/viscerocranium   

    See KIF5A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KIF5A

    SOURCE GeneReport for Unigene cluster: Hs.151219

    UniProtKB/Swiss-Prot: KIF5A_HUMAN, Q12840
    Tissue specificity: Distributed throughout the CNS but is highly enriched in subsets of neurons

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for KIF5A gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kif5a1 , 5 kinesin family member 5A1, 5 90.88(n)1
    98.15(a)1
      10 (74.50 cM)5
    165721  NM_001039000.41  NP_001034089.11 
     1272256965 
    lizard
    (Anolis carolinensis)
    Reptilia KIF5A6
    Uncharacterized protein
    82(a)
    1 ↔ 1
    GL343212.1(344151-432785)
    African clawed frog
    (Xenopus laevis)
    Amphibia CD362411.12   -- 81.97(n)    CD362411.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kif5aa1 kinesin family member 5A, a 73.62(n)
    74.51(a)
      566086  NM_001199776.1  NP_001186705.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Khc3 microtubule-based movement microtubule
    binding
    59(a)
    (best of 3)
        --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-1163 Kinesin heavy chain 47(a)
    (best of 2)
      III(8423542-8426830)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes KIP26
    Kinesin-related motor protein involved in mitotic ...
    20(a)
    1 → many
    XVI(257216-259336)


    ENSEMBL Gene Tree for KIF5A (if available)
    TreeFam Gene Tree for KIF5A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KIF5A gene
    KIF3A2  KIF5B2  KIF5C2  KIF1C2  KIF112  KIF16B2  KIF3B2  KIF1B2  
    KIF142  KIF13B2  KIF1A2  KIF172  KIF13A2  CENPE2  KIF152  KIF3C2  
    18/43 SIMAP similar genes for KIF5A using alignment to 3 protein entries:     KIF5A_HUMAN (see all proteins) (see all similar genes):
    KIF5B    KIF5C    R11    KIF5B-ALK    DKFZp566O183    Nbla04137
    R12    A20    KIF9    KIF1A    KIF18B    KIF13B
    KIF3A    CENPE    KIF13A    KIF1Bbeta    KIFC3    KIF17

    KIF5A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/731 SNPs in KIF5A are shown (see all 731)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0587424
    Spastic paraplegia 10, autosomal dominant (SPG10)4--see VAR_0587422 M T mis40--------
    VAR_0587484
    Spastic paraplegia 10, autosomal dominant (SPG10)4--see VAR_0587482 R L mis40--------
    VAR_0587434
    Spastic paraplegia 10, autosomal dominant (SPG10)4--see VAR_0587432 R Q mis40--------
    VAR_0328434
    Spastic paraplegia 10, autosomal dominant (SPG10)4--see VAR_0328432 R C mis40--------
    VAR_0587474
    Spastic paraplegia 10, autosomal dominant (SPG10)4--see VAR_0587472 R H mis40--------
    VAR_0587464
    Spastic paraplegia 10, autosomal dominant (SPG10)4--see VAR_0587462 K N mis40--------
    VAR_0587444
    Spastic paraplegia 10, autosomal dominant (SPG10)4--see VAR_0587442 E K mis40--------
    VAR_0328424
    Spastic paraplegia 10, autosomal dominant (SPG10)4--see VAR_0328422 N S mis40--------
    VAR_0666164
    Spastic paraplegia 10, autosomal dominant (SPG10)4--see VAR_0666162 S C mis40--------
    VAR_0331084
    Spastic paraplegia 10, autosomal dominant (SPG10)4--see VAR_0331082 Y C mis40--------

    HapMap Linkage Disequilibrium report for KIF5A (57943781 - 57980415 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for KIF5A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2745931CNV Deletion23290073
    esv2672290CNV Deletion23128226
    nsv724CNV Insertion18451855
    nsv725CNV Loss18451855
    nsv8975CNV Gain18304495
    nsv899118CNV Gain21882294
    nsv428283CNV Gain18775914
    dgv513e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): KIF5A
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KIF5A
    DNA2.0 Custom Variant and Variant Library Synthesis for KIF5A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602821   
    OMIM disorders: 604187  
    UniProtKB/Swiss-Prot: KIF5A_HUMAN, Q12840
  • Spastic paraplegia 10, autosomal dominant (SPG10) [MIM:604187]: A form of spastic paraplegia, a
    neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower
    limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include
    difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking.
    In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness
    may spread to other parts of the body. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 16 diseases for KIF5A:    About MalaCards
    autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation    spastic paraplegia 10    asbestosis    hereditary spastic paraplegia
    axonal neuropathy    paraplegia    spasticity    neuronitis
    wegener's granulomatosis    neuropathy    multiple sclerosis    type 1 diabetes
    neuroblastoma    schizophrenia    rheumatoid arthritis    arthritis

    1 disease from the University of Copenhagen DISEASES database for KIF5A:
    Paraplegia

    KIF5A for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for KIF5A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spg10 98.9 17 18853458 (4), 16489470 (1), 15452312 (1), 18203753 (1)
    spastic paraplegia hereditary 92.5 3 16476820 (2), 16489470 (1)

    Genetic Association Database (GAD): KIF5A
    Human Genome Epidemiology (HuGE) Navigator: KIF5A (15 documents)

    Export disorders for KIF5A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KIF5A gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with KIF5A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation in KIF5A can also cause adult-onset hereditary spastic paraplegia. (PubMed id 16489470)1, 2, 3, 9 Blair M.A.... Hedera P. (2006)
    2. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. (PubMed id 18853458)1, 2, 9 Goizet C....Brice A. (2009)
    3. 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. (PubMed id 9858832)1, 3, 9 Hamlin P.J....Robinson P.A. (1998)
    4. Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. (PubMed id 18203753)1, 2, 9 Ebbing B....Woehlke G. (2008)
    5. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. (PubMed id 15452312)1, 2, 9 Fichera M.... Neri M. (2004)
    6. A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. (PubMed id 21107874)1, 2 Musumeci O.... Toscano A. (2011)
    7. Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis. (PubMed id 19674979)1, 4 Hinks A....Packham J. (2010)
    8. Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-t umour necrosis factor treatment. (PubMed id 20444755)1, 4 Tan R.J....Barton A. (2010)
    9. Genetic variants in the prediction of rheumatoid arth ritis. (PubMed id 20439292)1, 4 van der Helm-van Mil A.H....Huizinga T.W. (2010)
    10. A functionally relevant IRF5 haplotype is associated with reduced risk to Wegener's granulomatosis. (PubMed id 20049410)1, 4 Wieczorek S....Epplen J.T. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3798 HGNC: 6323 AceView: KIF5A Ensembl:ENSG00000155980 euGenes: HUgn3798
    ECgene: KIF5A Kegg: 3798 H-InvDB: KIF5A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KIF5A Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KIF5A gene:
    Search GeneIP for patents involving KIF5A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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