Atlas of Genetics and Cytogenetics in Oncology and Haematology


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KIF1A (kinesin family member 1A)

Identity

Alias_namesATSV
C2orf20
SPG30
axonal transport of synaptic vesicles
chromosome 2 open reading frame 20
spastic paraplegia 30 (autosomal recessive)
Alias_symbol (synonym)UNC104
Other aliasHSN2C
MRD9
HGNC (Hugo) KIF1A
LocusID (NCBI) 547
Atlas_Id 55077
Location 2q37.3  [Link to chromosome band 2q37]
Location_base_pair Starts at 240713764 and ends at 240820308 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARPC1A (7q22.1) / KIF1A (2q37.3)CTSD (11p15.5) / KIF1A (2q37.3)ELOF1 (19p13.2) / KIF1A (2q37.3)
KCNIP4 (4p15.31) / KIF1A (2q37.3)KIF1A (2q37.3) / C2orf54 (2q37.3)KIF1A (2q37.3) / DCAF13 (8q22.3)
KIF1A (2q37.3) / IQSEC1 (3p25.2)KIF1A (2q37.3) / KIF1A (2q37.3)TRIP12 (2q36.3) / KIF1A (2q37.3)
KIF1A 2q37.3 / C2orf54 2q37.3TRIP12 2q36.3 / KIF1A 2q37.3

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)KIF1A   888
LRG (Locus Reference Genomic)LRG_367
Cards
Entrez_Gene (NCBI)KIF1A  547  kinesin family member 1A
AliasesATSV; C2orf20; HSN2C; MRD9; 
SPG30; UNC104
GeneCards (Weizmann)KIF1A
Ensembl hg19 (Hinxton)ENSG00000130294 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130294 [Gene_View]  chr2:240713764-240820308 [Contig_View]  KIF1A [Vega]
ICGC DataPortalENSG00000130294
TCGA cBioPortalKIF1A
AceView (NCBI)KIF1A
Genatlas (Paris)KIF1A
WikiGenes547
SOURCE (Princeton)KIF1A
Genetics Home Reference (NIH)KIF1A
Genomic and cartography
GoldenPath hg38 (UCSC)KIF1A  -     chr2:240713764-240820308 -  2q37.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KIF1A  -     2q37.3   [Description]    (hg19-Feb_2009)
EnsemblKIF1A - 2q37.3 [CytoView hg19]  KIF1A - 2q37.3 [CytoView hg38]
Mapping of homologs : NCBIKIF1A [Mapview hg19]  KIF1A [Mapview hg38]
OMIM201300   601255   610357   614213   614255   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001244008 NM_001320705 NM_001330289 NM_001330290 NM_004321
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KIF1A
Cluster EST : UnigeneHs.516802 [ NCBI ]
CGAP (NCI)Hs.516802
Alternative Splicing GalleryENSG00000130294
Gene ExpressionKIF1A [ NCBI-GEO ]   KIF1A [ EBI - ARRAY_EXPRESS ]   KIF1A [ SEEK ]   KIF1A [ MEM ]
Gene Expression Viewer (FireBrowse)KIF1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)547
GTEX Portal (Tissue expression)KIF1A
Human Protein AtlasENSG00000130294-KIF1A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12756   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12756  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12756
Splice isoforms : SwissVarQ12756
PhosPhoSitePlusQ12756
Domaine pattern : Prosite (Expaxy)FHA_DOMAIN (PS50006)    KINESIN_MOTOR_1 (PS00411)    KINESIN_MOTOR_2 (PS50067)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)FHA_dom    Kinesin-like    Kinesin-like_KIF1-typ    Kinesin_assoc    Kinesin_motor_CS    Kinesin_motor_dom    P-loop_NTPase    PH_dom-like    PH_domain    SMAD_FHA_domain   
Domain families : Pfam (Sanger)DUF3694 (PF12473)    FHA (PF00498)    KIF1B (PF12423)    Kinesin (PF00225)    Kinesin_assoc (PF16183)    PH (PF00169)   
Domain families : Pfam (NCBI)pfam12473    pfam00498    pfam12423    pfam00225    pfam16183    pfam00169   
Domain families : Smart (EMBL)FHA (SM00240)  KISc (SM00129)  PH (SM00233)  
Conserved Domain (NCBI)KIF1A
DMDM Disease mutations547
Blocks (Seattle)KIF1A
PDB (SRS)4EGX    4EJQ    4UXO    4UXP    4UXR    4UXS   
PDB (PDBSum)4EGX    4EJQ    4UXO    4UXP    4UXR    4UXS   
PDB (IMB)4EGX    4EJQ    4UXO    4UXP    4UXR    4UXS   
PDB (RSDB)4EGX    4EJQ    4UXO    4UXP    4UXR    4UXS   
Structural Biology KnowledgeBase4EGX    4EJQ    4UXO    4UXP    4UXR    4UXS   
SCOP (Structural Classification of Proteins)4EGX    4EJQ    4UXO    4UXP    4UXR    4UXS   
CATH (Classification of proteins structures)4EGX    4EJQ    4UXO    4UXP    4UXR    4UXS   
SuperfamilyQ12756
Human Protein Atlas [tissue]ENSG00000130294-KIF1A [tissue]
Peptide AtlasQ12756
HPRD03156
IPIIPI00604711   IPI00815672   IPI01015315   IPI01026072   IPI00604687   IPI00893591   IPI00893719   IPI00893241   
Protein Interaction databases
DIP (DOE-UCLA)Q12756
IntAct (EBI)Q12756
FunCoupENSG00000130294
BioGRIDKIF1A
STRING (EMBL)KIF1A
ZODIACKIF1A
Ontologies - Pathways
QuickGOQ12756
Ontology : AmiGOmotor activity  microtubule motor activity  ATP binding  kinesin complex  microtubule  microtubule binding  anterograde axonal transport  ATPase activity  axon cytoplasm  
Ontology : EGO-EBImotor activity  microtubule motor activity  ATP binding  kinesin complex  microtubule  microtubule binding  anterograde axonal transport  ATPase activity  axon cytoplasm  
NDEx NetworkKIF1A
Atlas of Cancer Signalling NetworkKIF1A
Wikipedia pathwaysKIF1A
Orthology - Evolution
OrthoDB547
GeneTree (enSembl)ENSG00000130294
Phylogenetic Trees/Animal Genes : TreeFamKIF1A
HOVERGENQ12756
HOGENOMQ12756
Homologs : HomoloGeneKIF1A
Homology/Alignments : Family Browser (UCSC)KIF1A
Gene fusions - Rearrangements
Fusion : MitelmanKIF1A/C2orf54 [2q37.3/2q37.3]  
Fusion : MitelmanTRIP12/KIF1A [2q36.3/2q37.3]  [t(2;2)(q36;q37)]  
Fusion: TCGA_MDACCKIF1A 2q37.3 C2orf54 2q37.3 LUAD
Fusion: TCGA_MDACCTRIP12 2q36.3 KIF1A 2q37.3 LUSC
Tumor Fusion PortalKIF1A
Fusion Cancer (Beijing)CTSD [11p15.5]  -  KIF1A [2q37.3]  [FUSC002412]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIF1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIF1A
dbVarKIF1A
ClinVarKIF1A
1000_GenomesKIF1A 
Exome Variant ServerKIF1A
ExAC (Exome Aggregation Consortium)ENSG00000130294
GNOMAD BrowserENSG00000130294
Genetic variants : HAPMAP547
Genomic Variants (DGV)KIF1A [DGVbeta]
DECIPHERKIF1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKIF1A 
Mutations
ICGC Data PortalKIF1A 
TCGA Data PortalKIF1A 
Broad Tumor PortalKIF1A
OASIS PortalKIF1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIF1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIF1A
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)LOVD - Leiden Open Variation Database
BioMutasearch KIF1A
DgiDB (Drug Gene Interaction Database)KIF1A
DoCM (Curated mutations)KIF1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIF1A (select a term)
intoGenKIF1A
Cancer3DKIF1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM201300    601255    610357    614213    614255   
Orphanet18028    1290    2573    14721   
DisGeNETKIF1A
MedgenKIF1A
Genetic Testing Registry KIF1A
NextProtQ12756 [Medical]
TSGene547
GENETestsKIF1A
Target ValidationKIF1A
Huge Navigator KIF1A [HugePedia]
snp3D : Map Gene to Disease547
BioCentury BCIQKIF1A
ClinGenKIF1A (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD547
Chemical/Pharm GKB GenePA25180
Clinical trialKIF1A
Miscellaneous
canSAR (ICR)KIF1A (select the gene name)
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIF1A
EVEXKIF1A
GoPubMedKIF1A
iHOPKIF1A
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 : Tue Nov 21 14:18:53 CET 2017

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