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KIF1C (kinesin family member 1C)

Identity

Alias_namesSAX2
spastic ataxia 2 (autosomal recessive)
Alias_symbol (synonym)SPAX2
SPG58
Other aliasLTXS1
SATX2
HGNC (Hugo) KIF1C
LocusID (NCBI) 10749
Atlas_Id 55537
Location 17p13.2  [Link to chromosome band 17p13]
Location_base_pair Starts at 4997948 and ends at 5028399 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
IDH2 (15q26.1) / KIF1C (17p13.2)KIF1C (17p13.2) / DNAH2 (17p13.1)KIF1C (17p13.2) / GNAI3 (1p13.3)
KIF1C (17p13.2) / KIRREL3 (11q24.2)KIF1C (17p13.2) / KLK4 (19q13.41)KIF1C (17p13.2) / MB (22q12.3)
KIF1C (17p13.2) / MYH10 (17p13.1)KIF1C (17p13.2) / VCL (10q22.2)

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)KIF1C   6317
Cards
Entrez_Gene (NCBI)KIF1C  10749  kinesin family member 1C
AliasesLTXS1; SATX2; SAX2; SPAX2; 
SPG58
GeneCards (Weizmann)KIF1C
Ensembl hg19 (Hinxton)ENSG00000129250 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000129250 [Gene_View]  chr17:4997948-5028399 [Contig_View]  KIF1C [Vega]
ICGC DataPortalENSG00000129250
TCGA cBioPortalKIF1C
AceView (NCBI)KIF1C
Genatlas (Paris)KIF1C
WikiGenes10749
SOURCE (Princeton)KIF1C
Genetics Home Reference (NIH)KIF1C
Genomic and cartography
GoldenPath hg38 (UCSC)KIF1C  -     chr17:4997948-5028399 +  17p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KIF1C  -     17p13.2   [Description]    (hg19-Feb_2009)
EnsemblKIF1C - 17p13.2 [CytoView hg19]  KIF1C - 17p13.2 [CytoView hg38]
Mapping of homologs : NCBIKIF1C [Mapview hg19]  KIF1C [Mapview hg38]
OMIM603060   611302   
Gene and transcription
Genbank (Entrez)AB014606 AK307401 BC025365 BC034993 BC040307
RefSeq transcript (Entrez)NM_006612
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KIF1C
Cluster EST : UnigeneHs.435120 [ NCBI ]
CGAP (NCI)Hs.435120
Alternative Splicing GalleryENSG00000129250
Gene ExpressionKIF1C [ NCBI-GEO ]   KIF1C [ EBI - ARRAY_EXPRESS ]   KIF1C [ SEEK ]   KIF1C [ MEM ]
Gene Expression Viewer (FireBrowse)KIF1C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10749
GTEX Portal (Tissue expression)KIF1C
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43896   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43896  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43896
Splice isoforms : SwissVarO43896
PhosPhoSitePlusO43896
Domaine pattern : Prosite (Expaxy)KINESIN_MOTOR_1 (PS00411)    KINESIN_MOTOR_2 (PS50067)   
Domains : Interpro (EBI)FHA_dom    Kinesin_assoc    Kinesin_motor_CS    Kinesin_motor_dom    P-loop_NTPase    SMAD_FHA_domain   
Domain families : Pfam (Sanger)FHA (PF00498)    Kinesin (PF00225)    Kinesin_assoc (PF16183)   
Domain families : Pfam (NCBI)pfam00498    pfam00225    pfam16183   
Domain families : Smart (EMBL)KISc (SM00129)  
Conserved Domain (NCBI)KIF1C
DMDM Disease mutations10749
Blocks (Seattle)KIF1C
PDB (SRS)2G1L   
PDB (PDBSum)2G1L   
PDB (IMB)2G1L   
PDB (RSDB)2G1L   
Structural Biology KnowledgeBase2G1L   
SCOP (Structural Classification of Proteins)2G1L   
CATH (Classification of proteins structures)2G1L   
SuperfamilyO43896
Human Protein AtlasENSG00000129250
Peptide AtlasO43896
HPRD04342
IPIIPI00179757   
Protein Interaction databases
DIP (DOE-UCLA)O43896
IntAct (EBI)O43896
FunCoupENSG00000129250
BioGRIDKIF1C
STRING (EMBL)KIF1C
ZODIACKIF1C
Ontologies - Pathways
QuickGOO43896
Ontology : AmiGORNA binding  motor activity  microtubule motor activity  protein binding  ATP binding  endoplasmic reticulum  Golgi apparatus  kinesin complex  microtubule  retrograde vesicle-mediated transport, Golgi to ER  microtubule-based movement  microtubule binding  ATPase activity  cytoskeleton-dependent intracellular transport  
Ontology : EGO-EBIRNA binding  motor activity  microtubule motor activity  protein binding  ATP binding  endoplasmic reticulum  Golgi apparatus  kinesin complex  microtubule  retrograde vesicle-mediated transport, Golgi to ER  microtubule-based movement  microtubule binding  ATPase activity  cytoskeleton-dependent intracellular transport  
NDEx NetworkKIF1C
Atlas of Cancer Signalling NetworkKIF1C
Wikipedia pathwaysKIF1C
Orthology - Evolution
OrthoDB10749
GeneTree (enSembl)ENSG00000129250
Phylogenetic Trees/Animal Genes : TreeFamKIF1C
HOVERGENO43896
HOGENOMO43896
Homologs : HomoloGeneKIF1C
Homology/Alignments : Family Browser (UCSC)KIF1C
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIF1C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIF1C
dbVarKIF1C
ClinVarKIF1C
1000_GenomesKIF1C 
Exome Variant ServerKIF1C
ExAC (Exome Aggregation Consortium)KIF1C (select the gene name)
Genetic variants : HAPMAP10749
Genomic Variants (DGV)KIF1C [DGVbeta]
DECIPHERKIF1C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKIF1C 
Mutations
ICGC Data PortalKIF1C 
TCGA Data PortalKIF1C 
Broad Tumor PortalKIF1C
OASIS PortalKIF1C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIF1C  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIF1C
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
BioMutasearch KIF1C
DgiDB (Drug Gene Interaction Database)KIF1C
DoCM (Curated mutations)KIF1C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIF1C (select a term)
intoGenKIF1C
Cancer3DKIF1C(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603060    611302   
Orphanet22710   
MedgenKIF1C
Genetic Testing Registry KIF1C
NextProtO43896 [Medical]
TSGene10749
GENETestsKIF1C
Target ValidationKIF1C
Huge Navigator KIF1C [HugePedia]
snp3D : Map Gene to Disease10749
BioCentury BCIQKIF1C
ClinGenKIF1C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10749
Chemical/Pharm GKB GenePA30100
Clinical trialKIF1C
Miscellaneous
canSAR (ICR)KIF1C (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIF1C
EVEXKIF1C
GoPubMedKIF1C
iHOPKIF1C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:14:27 CEST 2017

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