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KIF1B (kinesin family member 1B)

Identity

Alias_namesCMT2A
CMT2
Alias_symbol (synonym)KIAA0591
KLP
HMSNII
Other aliasCMT2A1
NBLST1
HGNC (Hugo) KIF1B
LocusID (NCBI) 23095
Atlas_Id 46043
Location 1p36.22  [Link to chromosome band 1p36]
Location_base_pair Starts at 10270764 and ends at 10441661 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
KCNAB2 (1p36.31) / KIF1B (1p36.22)KIF1B (1p36.22) / AGTRAP (1p36.22)KIF1B (1p36.22) / DUSP1 (5q35.1)
KIF1B (1p36.22) / GALNT11 (7q36.1)KIF1B (1p36.22) / MAGI2 (7q21.11)KIF1B (1p36.22) / MYO5B (18q21.1)
KIF1B (1p36.22) / RPS6KA2 (6q27)KIF1B (1p36.22) / TUBA1B (12q13.12)KIF1B (1p36.22) / UBE4B (1p36.22)
KIF1B (1p36.22) / YWHAE (17p13.3)MGAT5 (2q21.2) / KIF1B (1p36.22)MMEL1 (1p36.32) / KIF1B (1p36.22)
TTLL1 (22q13.2) / KIF1B (1p36.22)UBE4B (1p36.22) / KIF1B (1p36.22)ZNF738 (19p12) / KIF1B (1p36.22)
KCNAB2 1p36.31 / KIF1B 1p36.22KIF1B 1p36.22 / AGTRAP 1p36.22KIF1B 1p36.22 / MYO5B 18q21.1
KIF1B 1p36.22 / UBE4B 1p36.22TTLL1 22q13.2 / KIF1B 1p36.22

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Head and Neck: Paraganglioma: an overview


External links

Nomenclature
HGNC (Hugo)KIF1B   16636
LRG (Locus Reference Genomic)LRG_252
Cards
Entrez_Gene (NCBI)KIF1B  23095  kinesin family member 1B
AliasesCMT2; CMT2A; CMT2A1; HMSNII; 
KLP; NBLST1
GeneCards (Weizmann)KIF1B
Ensembl hg19 (Hinxton)ENSG00000054523 [Gene_View]  chr1:10270764-10441661 [Contig_View]  KIF1B [Vega]
Ensembl hg38 (Hinxton)ENSG00000054523 [Gene_View]  chr1:10270764-10441661 [Contig_View]  KIF1B [Vega]
ICGC DataPortalENSG00000054523
TCGA cBioPortalKIF1B
AceView (NCBI)KIF1B
Genatlas (Paris)KIF1B
WikiGenes23095
SOURCE (Princeton)KIF1B
Genetics Home Reference (NIH)KIF1B
Genomic and cartography
GoldenPath hg19 (UCSC)KIF1B  -     chr1:10270764-10441661 +  1p36.22   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KIF1B  -     1p36.22   [Description]    (hg38-Dec_2013)
EnsemblKIF1B - 1p36.22 [CytoView hg19]  KIF1B - 1p36.22 [CytoView hg38]
Mapping of homologs : NCBIKIF1B [Mapview hg19]  KIF1B [Mapview hg38]
OMIM118210   171300   256700   605995   
Gene and transcription
Genbank (Entrez)AA609163 AB011163 AB017133 AB040881 AB088210
RefSeq transcript (Entrez)NM_015074 NM_183416
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_008069 NT_032977 NW_004929289
Consensus coding sequences : CCDS (NCBI)KIF1B
Cluster EST : UnigeneHs.97858 [ NCBI ]
CGAP (NCI)Hs.97858
Alternative Splicing GalleryENSG00000054523
Gene ExpressionKIF1B [ NCBI-GEO ]   KIF1B [ EBI - ARRAY_EXPRESS ]   KIF1B [ SEEK ]   KIF1B [ MEM ]
Gene Expression Viewer (FireBrowse)KIF1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23095
GTEX Portal (Tissue expression)KIF1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60333   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60333  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60333
Splice isoforms : SwissVarO60333
PhosPhoSitePlusO60333
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_fam    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)KIF1B
DMDM Disease mutations23095
Blocks (Seattle)KIF1B
PDB (SRS)2EH0   
PDB (PDBSum)2EH0   
PDB (IMB)2EH0   
PDB (RSDB)2EH0   
Structural Biology KnowledgeBase2EH0   
SCOP (Structural Classification of Proteins)2EH0   
CATH (Classification of proteins structures)2EH0   
SuperfamilyO60333
Human Protein AtlasENSG00000054523
Peptide AtlasO60333
HPRD05818
IPIIPI00029011   IPI00216252   IPI00411763   IPI00397383   IPI01010528   
Protein Interaction databases
DIP (DOE-UCLA)O60333
IntAct (EBI)O60333
FunCoupENSG00000054523
BioGRIDKIF1B
STRING (EMBL)KIF1B
ZODIACKIF1B
Ontologies - Pathways
QuickGOO60333
Ontology : AmiGOmicrotubule motor activity  microtubule motor activity  protein binding  ATP binding  mitochondrion  kinesin complex  microtubule  microtubule associated complex  apoptotic process  microtubule-based movement  microtubule-based movement  neuron-neuron synaptic transmission  neuromuscular synaptic transmission  microtubule binding  anterograde axonal transport  metabolic process  ATPase activity  ATPase activity  kinesin binding  cytoplasmic vesicle membrane  cytoskeleton-dependent intracellular transport  cytoskeleton-dependent intracellular transport  cytoplasmic vesicle  neuron projection  mitochondrion transport along microtubule  axon cytoplasm  axon cytoplasm  
Ontology : EGO-EBImicrotubule motor activity  microtubule motor activity  protein binding  ATP binding  mitochondrion  kinesin complex  microtubule  microtubule associated complex  apoptotic process  microtubule-based movement  microtubule-based movement  neuron-neuron synaptic transmission  neuromuscular synaptic transmission  microtubule binding  anterograde axonal transport  metabolic process  ATPase activity  ATPase activity  kinesin binding  cytoplasmic vesicle membrane  cytoskeleton-dependent intracellular transport  cytoskeleton-dependent intracellular transport  cytoplasmic vesicle  neuron projection  mitochondrion transport along microtubule  axon cytoplasm  axon cytoplasm  
NDEx NetworkKIF1B
Atlas of Cancer Signalling NetworkKIF1B
Wikipedia pathwaysKIF1B
Orthology - Evolution
OrthoDB23095
GeneTree (enSembl)ENSG00000054523
Phylogenetic Trees/Animal Genes : TreeFamKIF1B
HOVERGENO60333
HOGENOMO60333
Homologs : HomoloGeneKIF1B
Homology/Alignments : Family Browser (UCSC)KIF1B
Gene fusions - Rearrangements
Fusion : MitelmanKCNAB2/KIF1B [1p36.31/1p36.22]  [t(1;1)(p36;p36)]  
Fusion : MitelmanKIF1B/AGTRAP [1p36.22/1p36.22]  [t(1;1)(p36;p36)]  
Fusion : MitelmanKIF1B/MYO5B [1p36.22/18q21.1]  [t(1;18)(p36;q21)]  
Fusion : MitelmanKIF1B/UBE4B [1p36.22/1p36.22]  [t(1;1)(p36;p36)]  
Fusion : MitelmanTTLL1/KIF1B [22q13.2/1p36.22]  [t(1;22)(p36;q13)]  
Fusion: TCGAKCNAB2 1p36.31 KIF1B 1p36.22 LGG
Fusion: TCGAKIF1B 1p36.22 AGTRAP 1p36.22 LUAD
Fusion: TCGAKIF1B 1p36.22 MYO5B 18q21.1 BRCA
Fusion: TCGAKIF1B 1p36.22 UBE4B 1p36.22 GBM KIRC
Fusion: TCGATTLL1 22q13.2 KIF1B 1p36.22 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIF1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIF1B
dbVarKIF1B
ClinVarKIF1B
1000_GenomesKIF1B 
Exome Variant ServerKIF1B
ExAC (Exome Aggregation Consortium)KIF1B (select the gene name)
Genetic variants : HAPMAP23095
Genomic Variants (DGV)KIF1B [DGVbeta]
DECIPHER (Syndromes)1:10270764-10441661  ENSG00000054523
CONAN: Copy Number AnalysisKIF1B 
Mutations
ICGC Data PortalKIF1B 
TCGA Data PortalKIF1B 
Broad Tumor PortalKIF1B
OASIS PortalKIF1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIF1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIF1B
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch KIF1B
DgiDB (Drug Gene Interaction Database)KIF1B
DoCM (Curated mutations)KIF1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIF1B (select a term)
intoGenKIF1B
Cancer3DKIF1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118210    171300    256700    605995   
Orphanet14519   
MedgenKIF1B
Genetic Testing Registry KIF1B
NextProtO60333 [Medical]
TSGene23095
GENETestsKIF1B
Huge Navigator KIF1B [HugePedia]
snp3D : Map Gene to Disease23095
BioCentury BCIQKIF1B
ClinGenKIF1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23095
Chemical/Pharm GKB GenePA38176
Clinical trialKIF1B
Miscellaneous
canSAR (ICR)KIF1B (select the gene name)
Probes
Litterature
PubMed81 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIF1B
EVEXKIF1B
GoPubMedKIF1B
iHOPKIF1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:06:09 CEST 2017

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