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KIF5A (kinesin family member 5A)

Identity

Alias_namesSPG10
spastic paraplegia 10 (autosomal dominant)
Alias_symbol (synonym)D12S1889
NKHC
MY050
Other aliasNEIMY
HGNC (Hugo) KIF5A
LocusID (NCBI) 3798
Atlas_Id 52351
Location 12q13.3  [Link to chromosome band 12q13]
Location_base_pair Starts at 57550064 and ends at 57584771 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATP6V0E2 (7q36.1) / KIF5A (12q13.3)FRS2 (12q15) / KIF5A (12q13.3)KIF5A (12q13.3) / CDK14 (7q21.13)
KIF5A (12q13.3) / CTDSP2 (12q14.1)OS9 (12q13.3) / KIF5A (12q13.3)PLEKHM3 (2q33.3) / KIF5A (12q13.3)
FRS2 12q15 / KIF5A 12q13.3OS9 12q13.3 / KIF5A 12q13.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)KIF5A   6323
Cards
Entrez_Gene (NCBI)KIF5A  3798  kinesin family member 5A
AliasesD12S1889; MY050; NEIMY; NKHC; 
SPG10
GeneCards (Weizmann)KIF5A
Ensembl hg19 (Hinxton)ENSG00000155980 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000155980 [Gene_View]  chr12:57550064-57584771 [Contig_View]  KIF5A [Vega]
ICGC DataPortalENSG00000155980
TCGA cBioPortalKIF5A
AceView (NCBI)KIF5A
Genatlas (Paris)KIF5A
WikiGenes3798
SOURCE (Princeton)KIF5A
Genetics Home Reference (NIH)KIF5A
Genomic and cartography
GoldenPath hg38 (UCSC)KIF5A  -     chr12:57550064-57584771 +  12q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KIF5A  -     12q13.3   [Description]    (hg19-Feb_2009)
EnsemblKIF5A - 12q13.3 [CytoView hg19]  KIF5A - 12q13.3 [CytoView hg38]
Mapping of homologs : NCBIKIF5A [Mapview hg19]  KIF5A [Mapview hg38]
OMIM602821   604187   617235   
Gene and transcription
Genbank (Entrez)AB210045 AB290174 AF063608 AK294881 AK315202
RefSeq transcript (Entrez)NM_004984
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KIF5A
Cluster EST : UnigeneHs.151219 [ NCBI ]
CGAP (NCI)Hs.151219
Alternative Splicing GalleryENSG00000155980
Gene ExpressionKIF5A [ NCBI-GEO ]   KIF5A [ EBI - ARRAY_EXPRESS ]   KIF5A [ SEEK ]   KIF5A [ MEM ]
Gene Expression Viewer (FireBrowse)KIF5A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3798
GTEX Portal (Tissue expression)KIF5A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12840   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12840  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12840
Splice isoforms : SwissVarQ12840
PhosPhoSitePlusQ12840
Domaine pattern : Prosite (Expaxy)KINESIN_MOTOR_1 (PS00411)    KINESIN_MOTOR_2 (PS50067)   
Domains : Interpro (EBI)Kinesin_motor_CS    Kinesin_motor_dom    P-loop_NTPase   
Domain families : Pfam (Sanger)Kinesin (PF00225)   
Domain families : Pfam (NCBI)pfam00225   
Domain families : Smart (EMBL)KISc (SM00129)  
Conserved Domain (NCBI)KIF5A
DMDM Disease mutations3798
Blocks (Seattle)KIF5A
PDB (SRS)4UXT    4UXY    4UY0   
PDB (PDBSum)4UXT    4UXY    4UY0   
PDB (IMB)4UXT    4UXY    4UY0   
PDB (RSDB)4UXT    4UXY    4UY0   
Structural Biology KnowledgeBase4UXT    4UXY    4UY0   
SCOP (Structural Classification of Proteins)4UXT    4UXY    4UY0   
CATH (Classification of proteins structures)4UXT    4UXY    4UY0   
SuperfamilyQ12840
Human Protein AtlasENSG00000155980
Peptide AtlasQ12840
HPRD09108
IPIIPI00029722   IPI01014265   IPI00301405   IPI01022613   
Protein Interaction databases
DIP (DOE-UCLA)Q12840
IntAct (EBI)Q12840
FunCoupENSG00000155980
BioGRIDKIF5A
STRING (EMBL)KIF5A
ZODIACKIF5A
Ontologies - Pathways
QuickGOQ12840
Ontology : AmiGOmotor activity  protein binding  ATP binding  cytosol  kinesin complex  microtubule  retrograde vesicle-mediated transport, Golgi to ER  microtubule-based movement  microtubule-based movement  chemical synaptic transmission  axon guidance  microtubule binding  protein localization  ATP-dependent microtubule motor activity, plus-end-directed  membrane  vesicle-mediated transport  antigen processing and presentation of exogenous peptide antigen via MHC class II  kinesin binding  cytoskeleton-dependent intracellular transport  dendrite cytoplasm  ciliary rootlet  neuronal cell body  perinuclear region of cytoplasm  anterograde dendritic transport of neurotransmitter receptor complex  
Ontology : EGO-EBImotor activity  protein binding  ATP binding  cytosol  kinesin complex  microtubule  retrograde vesicle-mediated transport, Golgi to ER  microtubule-based movement  microtubule-based movement  chemical synaptic transmission  axon guidance  microtubule binding  protein localization  ATP-dependent microtubule motor activity, plus-end-directed  membrane  vesicle-mediated transport  antigen processing and presentation of exogenous peptide antigen via MHC class II  kinesin binding  cytoskeleton-dependent intracellular transport  dendrite cytoplasm  ciliary rootlet  neuronal cell body  perinuclear region of cytoplasm  anterograde dendritic transport of neurotransmitter receptor complex  
Pathways : KEGGDopaminergic synapse   
NDEx NetworkKIF5A
Atlas of Cancer Signalling NetworkKIF5A
Wikipedia pathwaysKIF5A
Orthology - Evolution
OrthoDB3798
GeneTree (enSembl)ENSG00000155980
Phylogenetic Trees/Animal Genes : TreeFamKIF5A
HOVERGENQ12840
HOGENOMQ12840
Homologs : HomoloGeneKIF5A
Homology/Alignments : Family Browser (UCSC)KIF5A
Gene fusions - Rearrangements
Fusion : MitelmanFRS2/KIF5A [12q15/12q13.3]  [t(12;12)(q13;q15)]  
Fusion: TCGAFRS2 12q15 KIF5A 12q13.3 GBM
Fusion: TCGAOS9 12q13.3 KIF5A 12q13.3 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIF5A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIF5A
dbVarKIF5A
ClinVarKIF5A
1000_GenomesKIF5A 
Exome Variant ServerKIF5A
ExAC (Exome Aggregation Consortium)KIF5A (select the gene name)
Genetic variants : HAPMAP3798
Genomic Variants (DGV)KIF5A [DGVbeta]
DECIPHERKIF5A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKIF5A 
Mutations
ICGC Data PortalKIF5A 
TCGA Data PortalKIF5A 
Broad Tumor PortalKIF5A
OASIS PortalKIF5A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIF5A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIF5A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch KIF5A
DgiDB (Drug Gene Interaction Database)KIF5A
DoCM (Curated mutations)KIF5A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIF5A (select a term)
intoGenKIF5A
Cancer3DKIF5A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602821    604187    617235   
Orphanet21793    14702   
MedgenKIF5A
Genetic Testing Registry KIF5A
NextProtQ12840 [Medical]
TSGene3798
GENETestsKIF5A
Target ValidationKIF5A
Huge Navigator KIF5A [HugePedia]
snp3D : Map Gene to Disease3798
BioCentury BCIQKIF5A
ClinGenKIF5A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3798
Chemical/Pharm GKB GenePA30107
Clinical trialKIF5A
Miscellaneous
canSAR (ICR)KIF5A (select the gene name)
Probes
Litterature
PubMed67 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIF5A
EVEXKIF5A
GoPubMedKIF5A
iHOPKIF5A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:39:38 CEST 2017

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