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KIF5A Gene

protein-coding   GIFtS: 66
GCID: GC12P057943

Kinesin Family Member 5A

(Previous name: spastic paraplegia 10 (autosomal dominant))
(Previous symbol: SPG10)
  See KIF5A-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 louping ill, and autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation. GO annotations related to this gene include microtubule binding and motor activity. An important paralog of this gene is KIF4A.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   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 Chromatin IP Primers for KIF5A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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)
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KIF5A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004975.2  
    ENSEMBL proteins: 
     ENSP00000408979   ENSP00000286452  
    Reactome Protein details: Q12840

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

    4 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR001752 Kinesin_motor_dom
     IPR019821 Kinesin_motor_CS
     IPR027640 Kinesin-like_fam

    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


    Find genes that share domains with KIF5A           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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--
         
    Find genes that share ontologies with KIF5A           About GenesLikeMe


    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/body  homeostasis/metabolism  mortality/aging 
     nervous system  normal  respiratory system 

    Find genes that share phenotypes with KIF5A           About GenesLikeMe

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

       genOway: Develop your customized and physiologically relevant rodent model for KIF5A

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    hsa-mir-16-5p (MIRT032072), hsa-mir-103a-3p (MIRT027231)

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    Selected qRT-PCR Assays for microRNAs that regulate KIF5A (see all 37):
    hsa-miR-21* hsa-miR-642a hsa-miR-15a hsa-miR-106a hsa-miR-503 hsa-miR-138-2* hsa-miR-519a hsa-miR-424
    SwitchGear 3'UTR luciferase reporter plasmidKIF5A 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    KIF5A_HUMAN, Q12840: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    nucleus2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005871kinesin complex IEA--
    GO:0005874microtubule IEA--
    GO:0016020membrane TAS7514426
    GO:0048471perinuclear region of cytoplasm IEA--

    Find genes that share ontologies with KIF5A           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for KIF5A About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Cytoplasmic microtubules
    Cytoplasmic microtubules0.32
    Cytoskeleton remodeling Neurofilaments0.32
    2Peptide hormone metabolism
    Peptide hormone metabolism0.30
    Insulin Processing0.30
    3Hemostasis
    Hemostasis0.43
    4Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    5Circadian entrainment
    Dopaminergic synapse0.37


    Find genes that share SuperPaths with KIF5A           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    3 Reactome Pathways for KIF5A
        Insulin processing
    MHC class II antigen presentation
    Kinesins


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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIF5A
    Interactions:

        Search GeneGlobe Interaction Network for KIF5A

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

    Selected Interacting proteins for KIF5A (Q128401, 2, 3 ENSP000002864524) via UniProtKB, MINT, STRING, and/or I2D (see all 171)
    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): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007018microtubule-based movement TAS--
    GO:0007268synaptic transmission TAS7514426
    GO:0007596blood coagulation TAS--
    GO:0008152metabolic process TAS7514426
    GO:0008219cell death IEA--

    Find genes that share ontologies with KIF5A           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    hsa-miR-21* hsa-miR-642a hsa-miR-15a hsa-miR-106a hsa-miR-503 hsa-miR-138-2* hsa-miR-519a hsa-miR-424
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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 

    Selected AceView cDNA sequences (see all 141):

    T07477 AL539539 T06416 CR603244 BX505432 AA504697 AI291420 NM_004984 
    AI306413 AI458287 BQ881829 AI304249 BE504244 M62197 BP359999 AI479755 
    BM709780 BU101907 BX953903 AL118561 BM684916 BM930000 M78156 AI288694 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KIF5A expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Zeugopod Long Bone
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Limb (Muscoskeletal System)
             Pelvic Girdle
     
     Endothelium (Cardiovascular System)
             Endothelial Cells Blood Brain Barrier
    KIF5A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIF5A Protein Expression

    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for KIF5A gene from Selected 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_008447.41  NP_032473.21 
     1272256965 
    lizard
    (Anolis carolinensis)
    Reptilia KIF5A6
    kinesin family member 5A
    83(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 73.92(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)   --


    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)
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    Paralogs for KIF5A gene
    KIF4A2  KIF3A2  KIF5B2  KIF5C2  KIF21A2  KIF112  KIF3B2  KIF21B2  
    KIF172  KIF152  CENPE2  KIF72  KIF4B2  KIF272  KIF3C2  
    Selected 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    R12
    A20    Nbla04137    KIF9    KIF1A    KIF18B    KIF13B
    KIF3A    CENPE    KIF13A    KIF1Bbeta    KIFC3    KIF17

    Find genes that share paralogs with KIF5A           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for KIF5A (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
    ----------
    rs1214344441,2,,4
    CSpastic paraplegia 10, autosomal dominant (SPG10)4 pathogenic157797782(+) GATTGC/TGAAGC 2 A V mis10--------
    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--------

    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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    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

  • 7 diseases for KIF5A:    
    About MalaCards
    louping ill    autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation    spastic paraplegia 10, autosomal dominant    spastic paraplegia 10
    asbestosis    hereditary spastic paraplegia    paraplegia

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

    Find genes that share disorders with KIF5A           About GenesLikeMe

    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

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    PubMed articles for KIF5A gene, integrated from 10 sources (see all 57):
    (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. (Neurogenetics 2006)
    2. Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. (PubMed id 18853458)1, 2, 9 Goizet C....Brice A. (Hum. Mutat. 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. (Cytogenet. Cell Genet. 1998)
    4. Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity. (PubMed id 18203753)1, 2, 9 Ebbing B....Woehlke G. (Hum. Mol. Genet. 2008)
    5. Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia. (PubMed id 15452312)1, 2, 9 Fichera M.... Neri M. (Neurology 2004)
    6. A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy. (PubMed id 21107874)1, 2 Musumeci O.... Toscano A. (Neurol. Sci. 2011)
    7. Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis. (PubMed id 19674979)1, 4 Hinks A....Thomson W. (Ann. Rheum. Dis. 2010)
    8. Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment. (PubMed id 20444755)1, 4 Tan R.J....Barton A. (Ann. Rheum. Dis. 2010)
    9. Genetic variants in the prediction of rheumatoid arthritis. (PubMed id 20439292)1, 4 van der Helm-van Mil A.H....Huizinga T.W. (Ann. Rheum. Dis. 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. (J. Mol. Med. 2010)

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

      Query String
    PubMed
    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

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    Entrez Gene: 3798 HGNC: 6323 AceView: KIF5A Ensembl:ENSG00000155980 euGenes: HUgn3798
    ECgene: KIF5A Kegg: 3798 H-InvDB: KIF5A

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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

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    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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