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SHKBP1 (SH3KBP1 binding protein 1)

Identity

Alias_symbol (synonym)PP203
Sb1
Other alias
HGNC (Hugo) SHKBP1
LocusID (NCBI) 92799
Atlas_Id 52592
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 40576851 and ends at 40591399 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)

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)SHKBP1   19214
Cards
Entrez_Gene (NCBI)SHKBP1  92799  SH3KBP1 binding protein 1
AliasesPP203; Sb1
GeneCards (Weizmann)SHKBP1
Ensembl hg19 (Hinxton)ENSG00000160410 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160410 [Gene_View]  chr19:40576851-40591399 [Contig_View]  SHKBP1 [Vega]
ICGC DataPortalENSG00000160410
TCGA cBioPortalSHKBP1
AceView (NCBI)SHKBP1
Genatlas (Paris)SHKBP1
WikiGenes92799
SOURCE (Princeton)SHKBP1
Genetics Home Reference (NIH)SHKBP1
Genomic and cartography
GoldenPath hg38 (UCSC)SHKBP1  -     chr19:40576851-40591399 +  19q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SHKBP1  -     19q13.2   [Description]    (hg19-Feb_2009)
EnsemblSHKBP1 - 19q13.2 [CytoView hg19]  SHKBP1 - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBISHKBP1 [Mapview hg19]  SHKBP1 [Mapview hg38]
OMIM617322   
Gene and transcription
Genbank (Entrez)AF258553 AK075057 AK123695 AK297006 AK300808
RefSeq transcript (Entrez)NM_138392
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SHKBP1
Cluster EST : UnigeneHs.26506 [ NCBI ]
CGAP (NCI)Hs.26506
Alternative Splicing GalleryENSG00000160410
Gene ExpressionSHKBP1 [ NCBI-GEO ]   SHKBP1 [ EBI - ARRAY_EXPRESS ]   SHKBP1 [ SEEK ]   SHKBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)SHKBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)92799
GTEX Portal (Tissue expression)SHKBP1
Human Protein AtlasENSG00000160410-SHKBP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TBC3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TBC3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TBC3
Splice isoforms : SwissVarQ8TBC3
PhosPhoSitePlusQ8TBC3
Domaine pattern : Prosite (Expaxy)BTB (PS50097)    WD_REPEATS_1 (PS00678)   
Domains : Interpro (EBI)BTB/POZ_dom    SKP1/BTB/POZ    T1-type_BTB    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom   
Domain families : Pfam (Sanger)BTB_2 (PF02214)   
Domain families : Pfam (NCBI)pfam02214   
Domain families : Smart (EMBL)BTB (SM00225)  WD40 (SM00320)  
Conserved Domain (NCBI)SHKBP1
DMDM Disease mutations92799
Blocks (Seattle)SHKBP1
PDB (SRS)4CRH   
PDB (PDBSum)4CRH   
PDB (IMB)4CRH   
PDB (RSDB)4CRH   
Structural Biology KnowledgeBase4CRH   
SCOP (Structural Classification of Proteins)4CRH   
CATH (Classification of proteins structures)4CRH   
SuperfamilyQ8TBC3
Human Protein Atlas [tissue]ENSG00000160410-SHKBP1 [tissue]
Peptide AtlasQ8TBC3
HPRD15338
IPIIPI00163403   IPI00384008   IPI00908733   IPI00910945   
Protein Interaction databases
DIP (DOE-UCLA)Q8TBC3
IntAct (EBI)Q8TBC3
FunCoupENSG00000160410
BioGRIDSHKBP1
STRING (EMBL)SHKBP1
ZODIACSHKBP1
Ontologies - Pathways
QuickGOQ8TBC3
Ontology : AmiGOprotein binding  lysosome  positive regulation of epidermal growth factor receptor signaling pathway  positive regulation of epidermal growth factor receptor signaling pathway  protein homooligomerization  
Ontology : EGO-EBIprotein binding  lysosome  positive regulation of epidermal growth factor receptor signaling pathway  positive regulation of epidermal growth factor receptor signaling pathway  protein homooligomerization  
NDEx NetworkSHKBP1
Atlas of Cancer Signalling NetworkSHKBP1
Wikipedia pathwaysSHKBP1
Orthology - Evolution
OrthoDB92799
GeneTree (enSembl)ENSG00000160410
Phylogenetic Trees/Animal Genes : TreeFamSHKBP1
HOVERGENQ8TBC3
HOGENOMQ8TBC3
Homologs : HomoloGeneSHKBP1
Homology/Alignments : Family Browser (UCSC)SHKBP1
Gene fusions - Rearrangements
Fusion: Tumor Portal SHKBP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSHKBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SHKBP1
dbVarSHKBP1
ClinVarSHKBP1
1000_GenomesSHKBP1 
Exome Variant ServerSHKBP1
ExAC (Exome Aggregation Consortium)ENSG00000160410
GNOMAD BrowserENSG00000160410
Genetic variants : HAPMAP92799
Genomic Variants (DGV)SHKBP1 [DGVbeta]
DECIPHERSHKBP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSHKBP1 
Mutations
ICGC Data PortalSHKBP1 
TCGA Data PortalSHKBP1 
Broad Tumor PortalSHKBP1
OASIS PortalSHKBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSHKBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSHKBP1
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 SHKBP1
DgiDB (Drug Gene Interaction Database)SHKBP1
DoCM (Curated mutations)SHKBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SHKBP1 (select a term)
intoGenSHKBP1
Cancer3DSHKBP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617322   
Orphanet
MedgenSHKBP1
Genetic Testing Registry SHKBP1
NextProtQ8TBC3 [Medical]
TSGene92799
GENETestsSHKBP1
Target ValidationSHKBP1
Huge Navigator SHKBP1 [HugePedia]
snp3D : Map Gene to Disease92799
BioCentury BCIQSHKBP1
ClinGenSHKBP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD92799
Chemical/Pharm GKB GenePA134954640
Clinical trialSHKBP1
Miscellaneous
canSAR (ICR)SHKBP1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSHKBP1
EVEXSHKBP1
GoPubMedSHKBP1
iHOPSHKBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 13:10:46 CET 2017

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