Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SH3KBP1 (SH3-domain kinase binding protein 1)

Identity

Alias_symbol (synonym)CIN85
Other aliasCD2BP3
GIG10
HSB-1
HSB1
MIG18
HGNC (Hugo) SH3KBP1
LocusID (NCBI) 30011
Atlas_Id 42284
Location Xp22.12  [Link to chromosome band Xp22]
Location_base_pair Starts at 19552083 and ends at 19817917 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ALCAM (3q13.11) / SH3KBP1 (Xp22.12)CDKL5 (Xp22.13) / SH3KBP1 (Xp22.12)PPP2R2A (8p21.2) / SH3KBP1 (Xp22.12)
SCML2 (Xp22.13) / SH3KBP1 (Xp22.12)SH3KBP1 (Xp22.12) / DMD (Xp21.2)SH3KBP1 (Xp22.12) / HOPX (4q12)
SH3KBP1 (Xp22.12) / LCP1 (13q14.13)SH3KBP1 (Xp22.12) / MAP7D2 (Xp22.12)SH3KBP1 (Xp22.12) / SH3KBP1 (Xp22.12)
SH3KBP1 (Xp22.12) / SLC44A3 (1p21.3)SH3KBP1 (Xp22.12) / ZKSCAN1 (7q22.1)STAT6 (12q13.3) / SH3KBP1 (Xp22.12)
ALCAM 3q13.11 / SH3KBP1 Xp22.12SH3KBP1 Xp22.12 / MAP7D2 Xp22.12

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(11)(q23q23) KMT2A/CBL::t(11;11)(q23;q23) KMT2A/CBL


External links

Nomenclature
HGNC (Hugo)SH3KBP1   13867
Cards
Entrez_Gene (NCBI)SH3KBP1  30011  SH3-domain kinase binding protein 1
AliasesCD2BP3; CIN85; GIG10; HSB-1; 
HSB1; MIG18
GeneCards (Weizmann)SH3KBP1
Ensembl hg19 (Hinxton)ENSG00000147010 [Gene_View]  chrX:19552083-19817917 [Contig_View]  SH3KBP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000147010 [Gene_View]  chrX:19552083-19817917 [Contig_View]  SH3KBP1 [Vega]
ICGC DataPortalENSG00000147010
TCGA cBioPortalSH3KBP1
AceView (NCBI)SH3KBP1
Genatlas (Paris)SH3KBP1
WikiGenes30011
SOURCE (Princeton)SH3KBP1
Genetics Home Reference (NIH)SH3KBP1
Genomic and cartography
GoldenPath hg19 (UCSC)SH3KBP1  -     chrX:19552083-19817917 -  Xp22.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SH3KBP1  -     Xp22.12   [Description]    (hg38-Dec_2013)
EnsemblSH3KBP1 - Xp22.12 [CytoView hg19]  SH3KBP1 - Xp22.12 [CytoView hg38]
Mapping of homologs : NCBISH3KBP1 [Mapview hg19]  SH3KBP1 [Mapview hg38]
OMIM300374   
Gene and transcription
Genbank (Entrez)AF230904 AF329267 AF329268 AF542051 AK293234
RefSeq transcript (Entrez)NM_001024666 NM_001184960 NM_031892
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_021367 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)SH3KBP1
Cluster EST : UnigeneHs.726365 [ NCBI ]
CGAP (NCI)Hs.726365
Alternative Splicing GalleryENSG00000147010
Gene ExpressionSH3KBP1 [ NCBI-GEO ]   SH3KBP1 [ EBI - ARRAY_EXPRESS ]   SH3KBP1 [ SEEK ]   SH3KBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)SH3KBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)30011
GTEX Portal (Tissue expression)SH3KBP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96B97   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96B97  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96B97
Splice isoforms : SwissVarQ96B97
PhosPhoSitePlusQ96B97
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)SH3_domain   
Domain families : Pfam (Sanger)SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam14604   
Domain families : Smart (EMBL)SH3 (SM00326)  
Conserved Domain (NCBI)SH3KBP1
DMDM Disease mutations30011
Blocks (Seattle)SH3KBP1
PDB (SRS)2BZ8    2K6D    2K9G    2O2O    2YDL   
PDB (PDBSum)2BZ8    2K6D    2K9G    2O2O    2YDL   
PDB (IMB)2BZ8    2K6D    2K9G    2O2O    2YDL   
PDB (RSDB)2BZ8    2K6D    2K9G    2O2O    2YDL   
Structural Biology KnowledgeBase2BZ8    2K6D    2K9G    2O2O    2YDL   
SCOP (Structural Classification of Proteins)2BZ8    2K6D    2K9G    2O2O    2YDL   
CATH (Classification of proteins structures)2BZ8    2K6D    2K9G    2O2O    2YDL   
SuperfamilyQ96B97
Human Protein AtlasENSG00000147010
Peptide AtlasQ96B97
HPRD02301
IPIIPI00294962   IPI00477897   IPI01014751   IPI00645893   IPI00477285   IPI00642395   IPI00641861   IPI00643458   
Protein Interaction databases
DIP (DOE-UCLA)Q96B97
IntAct (EBI)Q96B97
FunCoupENSG00000147010
BioGRIDSH3KBP1
STRING (EMBL)SH3KBP1
ZODIACSH3KBP1
Ontologies - Pathways
QuickGOQ96B97
Ontology : AmiGOprotein binding  cytosol  cytoskeleton  plasma membrane  cell-cell junction  focal adhesion  endocytosis  apoptotic process  cytoskeleton organization  cell-cell signaling  regulation of cell shape  cell migration  SH3 domain binding  endocytic vesicle  cytoplasmic vesicle membrane  negative regulation of epidermal growth factor receptor signaling pathway  neuron projection  synapse  
Ontology : EGO-EBIprotein binding  cytosol  cytoskeleton  plasma membrane  cell-cell junction  focal adhesion  endocytosis  apoptotic process  cytoskeleton organization  cell-cell signaling  regulation of cell shape  cell migration  SH3 domain binding  endocytic vesicle  cytoplasmic vesicle membrane  negative regulation of epidermal growth factor receptor signaling pathway  neuron projection  synapse  
Pathways : BIOCARTACBL mediated ligand-induced downregulation of EGF receptors [Genes]   
Pathways : KEGGEndocytosis   
NDEx NetworkSH3KBP1
Atlas of Cancer Signalling NetworkSH3KBP1
Wikipedia pathwaysSH3KBP1
Orthology - Evolution
OrthoDB30011
GeneTree (enSembl)ENSG00000147010
Phylogenetic Trees/Animal Genes : TreeFamSH3KBP1
HOVERGENQ96B97
HOGENOMQ96B97
Homologs : HomoloGeneSH3KBP1
Homology/Alignments : Family Browser (UCSC)SH3KBP1
Gene fusions - Rearrangements
Fusion : MitelmanALCAM/SH3KBP1 [3q13.11/Xp22.12]  [t(X;3)(p22;q13)]  
Fusion : MitelmanSH3KBP1/MAP7D2 [Xp22.12/Xp22.12]  [t(X;X)(p22;p22)]  
Fusion: TCGAALCAM 3q13.11 SH3KBP1 Xp22.12 BLCA
Fusion: TCGASH3KBP1 Xp22.12 MAP7D2 Xp22.12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH3KBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH3KBP1
dbVarSH3KBP1
ClinVarSH3KBP1
1000_GenomesSH3KBP1 
Exome Variant ServerSH3KBP1
ExAC (Exome Aggregation Consortium)SH3KBP1 (select the gene name)
Genetic variants : HAPMAP30011
Genomic Variants (DGV)SH3KBP1 [DGVbeta]
DECIPHER (Syndromes)X:19552083-19817917  ENSG00000147010
CONAN: Copy Number AnalysisSH3KBP1 
Mutations
ICGC Data PortalSH3KBP1 
TCGA Data PortalSH3KBP1 
Broad Tumor PortalSH3KBP1
OASIS PortalSH3KBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH3KBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH3KBP1
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)X-chromosome gene database
BioMutasearch SH3KBP1
DgiDB (Drug Gene Interaction Database)SH3KBP1
DoCM (Curated mutations)SH3KBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH3KBP1 (select a term)
intoGenSH3KBP1
Cancer3DSH3KBP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300374   
Orphanet
MedgenSH3KBP1
Genetic Testing Registry SH3KBP1
NextProtQ96B97 [Medical]
TSGene30011
GENETestsSH3KBP1
Huge Navigator SH3KBP1 [HugePedia]
snp3D : Map Gene to Disease30011
BioCentury BCIQSH3KBP1
ClinGenSH3KBP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD30011
Chemical/Pharm GKB GenePA37822
Clinical trialSH3KBP1
Miscellaneous
canSAR (ICR)SH3KBP1 (select the gene name)
Probes
Litterature
PubMed126 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH3KBP1
EVEXSH3KBP1
GoPubMedSH3KBP1
iHOPSH3KBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:27:09 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.