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SKAP1 (src kinase associated phosphoprotein 1)

Identity

Alias_namesSCAP1
src family associated phosphoprotein 1
Alias_symbol (synonym)SKAP55
Other aliasHEL-S-81p
HGNC (Hugo) SKAP1
LocusID (NCBI) 8631
Atlas_Id 51757
Location 17q21.32  [Link to chromosome band 17q21]
Location_base_pair Starts at 48133440 and ends at 48430232 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CPD (17q11.2) / SKAP1 (17q21.32)FOXK2 (17q25.3) / SKAP1 (17q21.32)KPNB1 (17q21.32) / SKAP1 (17q21.32)
NFE2L1 (17q21.32) / SKAP1 (17q21.32)NSRP1 (17q11.2) / SKAP1 (17q21.32)PEPD (19q13.11) / SKAP1 (17q21.32)
PLA2G2D (1p36.12) / SKAP1 (17q21.32)RARA (17q21.2) / SKAP1 (17q21.32)SCRN2 (17q21.32) / SKAP1 (17q21.32)
SKAP1 (17q21.32) / ABCC11 (16q12.1)SKAP1 (17q21.32) / BCAS3 (17q23.2)SKAP1 (17q21.32) / CALCOCO2 (17q21.32)
SKAP1 (17q21.32) / DNAH17 (17q25.3)SKAP1 (17q21.32) / HOXB3 (17q21.32)SKAP1 (17q21.32) / IKZF3 (17q12)
SKAP1 (17q21.32) / NQO2 (6p25.2)SKAP1 (17q21.32) / TMEM100 (17q22)SKAP1 (17q21.32) / YPEL2 (17q22)
SPAG9 (17q21.33) / SKAP1 (17q21.32)CPD 17q11.2 / SKAP1 17q21.32FOXK2 17q25.3 / SKAP1 17q21.32
KPNB1 17q21.32 / SKAP1 17q21.32NSRP1 17q11.2 / SKAP1 17q21.32PEPD 19q13.11 / SKAP1 17q21.32
RARA 17q21.2 / SKAP1 17q21.32SCRN2 17q21.32 / SKAP1 17q21.32SKAP1 17q21.32 / ABCC11 16q12.1
SKAP1 17q21.32 / BCAS3 17q23.2SKAP1 17q21.32 / CALCOCO2 17q21.32SKAP1 17q21.32 / DNAH17 17q25.3
SKAP1 17q21.32 / HOXB3 17q21.32SKAP1 17q21.32 / IKZF3 17q12SKAP1 17q21.32 / NQO2 6p25.2
SKAP1 17q21.32 / TMEM100 17q22SKAP1 17q21.32 / YPEL2 17q22SPAG9 17q21.33 / SKAP1 17q21.32

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)SKAP1   15605
Cards
Entrez_Gene (NCBI)SKAP1  8631  src kinase associated phosphoprotein 1
AliasesHEL-S-81p; SCAP1; SKAP55
GeneCards (Weizmann)SKAP1
Ensembl hg19 (Hinxton)ENSG00000141293 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000141293 [Gene_View]  chr17:48133440-48430232 [Contig_View]  SKAP1 [Vega]
ICGC DataPortalENSG00000141293
TCGA cBioPortalSKAP1
AceView (NCBI)SKAP1
Genatlas (Paris)SKAP1
WikiGenes8631
SOURCE (Princeton)SKAP1
Genetics Home Reference (NIH)SKAP1
Genomic and cartography
GoldenPath hg38 (UCSC)SKAP1  -     chr17:48133440-48430232 -  17q21.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SKAP1  -     17q21.32   [Description]    (hg19-Feb_2009)
EnsemblSKAP1 - 17q21.32 [CytoView hg19]  SKAP1 - 17q21.32 [CytoView hg38]
Mapping of homologs : NCBISKAP1 [Mapview hg19]  SKAP1 [Mapview hg38]
OMIM604969   
Gene and transcription
Genbank (Entrez)AK290818 BC039040 BC047870 DR007155 EU668346
RefSeq transcript (Entrez)NM_001075099 NM_003726
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SKAP1
Cluster EST : UnigeneHs.316931 [ NCBI ]
CGAP (NCI)Hs.316931
Alternative Splicing GalleryENSG00000141293
Gene ExpressionSKAP1 [ NCBI-GEO ]   SKAP1 [ EBI - ARRAY_EXPRESS ]   SKAP1 [ SEEK ]   SKAP1 [ MEM ]
Gene Expression Viewer (FireBrowse)SKAP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8631
GTEX Portal (Tissue expression)SKAP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86WV1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86WV1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86WV1
Splice isoforms : SwissVarQ86WV1
PhosPhoSitePlusQ86WV1
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    SH3 (PS50002)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    SH3_domain   
Domain families : Pfam (Sanger)PH (PF00169)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam00169    pfam00018   
Domain families : Smart (EMBL)PH (SM00233)  SH3 (SM00326)  
Conserved Domain (NCBI)SKAP1
DMDM Disease mutations8631
Blocks (Seattle)SKAP1
PDB (SRS)1U5D   
PDB (PDBSum)1U5D   
PDB (IMB)1U5D   
PDB (RSDB)1U5D   
Structural Biology KnowledgeBase1U5D   
SCOP (Structural Classification of Proteins)1U5D   
CATH (Classification of proteins structures)1U5D   
SuperfamilyQ86WV1
Human Protein AtlasENSG00000141293
Peptide AtlasQ86WV1
HPRD05396
IPIIPI00289536   IPI00793789   
Protein Interaction databases
DIP (DOE-UCLA)Q86WV1
IntAct (EBI)Q86WV1
FunCoupENSG00000141293
BioGRIDSKAP1
STRING (EMBL)SKAP1
ZODIACSKAP1
Ontologies - Pathways
QuickGOQ86WV1
Ontology : AmiGOadaptive immune response  SH3/SH2 adaptor activity  SH3/SH2 adaptor activity  protein binding  nucleus  cytoplasm  cytosol  plasma membrane  cell-cell junction  positive regulation of signal transduction  SH3 domain binding  protein kinase binding  protein phosphatase binding  protein complex binding  T cell receptor complex  SH2 domain binding  positive regulation of cell adhesion  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  T cell receptor signaling pathway  protein localization to plasma membrane  
Ontology : EGO-EBIadaptive immune response  SH3/SH2 adaptor activity  SH3/SH2 adaptor activity  protein binding  nucleus  cytoplasm  cytosol  plasma membrane  cell-cell junction  positive regulation of signal transduction  SH3 domain binding  protein kinase binding  protein phosphatase binding  protein complex binding  T cell receptor complex  SH2 domain binding  positive regulation of cell adhesion  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  T cell receptor signaling pathway  protein localization to plasma membrane  
Pathways : KEGGRap1 signaling pathway   
NDEx NetworkSKAP1
Atlas of Cancer Signalling NetworkSKAP1
Wikipedia pathwaysSKAP1
Orthology - Evolution
OrthoDB8631
GeneTree (enSembl)ENSG00000141293
Phylogenetic Trees/Animal Genes : TreeFamSKAP1
HOVERGENQ86WV1
HOGENOMQ86WV1
Homologs : HomoloGeneSKAP1
Homology/Alignments : Family Browser (UCSC)SKAP1
Gene fusions - Rearrangements
Fusion : MitelmanCPD/SKAP1 [17q11.2/17q21.32]  [t(17;17)(q11;q21)]  
Fusion : MitelmanFOXK2/SKAP1 [17q25.3/17q21.32]  [t(17;17)(q21;q25)]  
Fusion : MitelmanKPNB1/SKAP1 [17q21.32/17q21.32]  [t(17;17)(q21;q21)]  
Fusion : MitelmanNSRP1/SKAP1 [17q11.2/17q21.32]  [t(17;17)(q11;q21)]  
Fusion : MitelmanPEPD/SKAP1 [19q13.11/17q21.32]  [t(17;19)(q21;q13)]  
Fusion : MitelmanRARA/SKAP1 [17q21.2/17q21.32]  [t(17;17)(q21;q21)]  
Fusion : MitelmanSCRN2/SKAP1 [17q21.32/17q21.32]  [t(17;17)(q21;q21)]  
Fusion : MitelmanSKAP1/ABCC11 [17q21.32/16q12.1]  [t(16;17)(q12;q21)]  
Fusion : MitelmanSKAP1/BCAS3 [17q21.32/17q23.2]  [t(17;17)(q21;q23)]  
Fusion : MitelmanSKAP1/CALCOCO2 [17q21.32/17q21.32]  [t(17;17)(q21;q21)]  
Fusion : MitelmanSKAP1/DNAH17 [17q21.32/17q25.3]  [t(17;17)(q21;q25)]  
Fusion : MitelmanSKAP1/HOXB3 [17q21.32/17q21.32]  [t(17;17)(q21;q21)]  
Fusion : MitelmanSKAP1/IKZF3 [17q21.32/17q12]  [t(17;17)(q12;q21)]  
Fusion : MitelmanSKAP1/NQO2 [17q21.32/6p25.2]  [t(6;17)(p25;q21)]  
Fusion : MitelmanSKAP1/TMEM100 [17q21.32/17q22]  [t(17;17)(q21;q22)]  
Fusion : MitelmanSKAP1/YPEL2 [17q21.32/17q22]  [t(17;17)(q21;q22)]  
Fusion : MitelmanSPAG9/SKAP1 [17q21.33/17q21.32]  [t(17;17)(q21;q21)]  
Fusion: TCGACPD 17q11.2 SKAP1 17q21.32 BRCA
Fusion: TCGAFOXK2 17q25.3 SKAP1 17q21.32 BRCA
Fusion: TCGAKPNB1 17q21.32 SKAP1 17q21.32 BRCA
Fusion: TCGANSRP1 17q11.2 SKAP1 17q21.32 BRCA
Fusion: TCGAPEPD 19q13.11 SKAP1 17q21.32 LUAD
Fusion: TCGARARA 17q21.2 SKAP1 17q21.32 BRCA
Fusion: TCGASCRN2 17q21.32 SKAP1 17q21.32 BRCA
Fusion: TCGASKAP1 17q21.32 ABCC11 16q12.1 BRCA
Fusion: TCGASKAP1 17q21.32 BCAS3 17q23.2 BRCA
Fusion: TCGASKAP1 17q21.32 CALCOCO2 17q21.32 SKCM
Fusion: TCGASKAP1 17q21.32 DNAH17 17q25.3 KIRC
Fusion: TCGASKAP1 17q21.32 HOXB3 17q21.32 LUAD
Fusion: TCGASKAP1 17q21.32 IKZF3 17q12 BRCA
Fusion: TCGASKAP1 17q21.32 NQO2 6p25.2 OV
Fusion: TCGASKAP1 17q21.32 TMEM100 17q22 BRCA
Fusion: TCGASKAP1 17q21.32 YPEL2 17q22 BRCA
Fusion: TCGASPAG9 17q21.33 SKAP1 17q21.32 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSKAP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SKAP1
dbVarSKAP1
ClinVarSKAP1
1000_GenomesSKAP1 
Exome Variant ServerSKAP1
ExAC (Exome Aggregation Consortium)SKAP1 (select the gene name)
Genetic variants : HAPMAP8631
Genomic Variants (DGV)SKAP1 [DGVbeta]
DECIPHERSKAP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSKAP1 
Mutations
ICGC Data PortalSKAP1 
TCGA Data PortalSKAP1 
Broad Tumor PortalSKAP1
OASIS PortalSKAP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSKAP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSKAP1
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 SKAP1
DgiDB (Drug Gene Interaction Database)SKAP1
DoCM (Curated mutations)SKAP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SKAP1 (select a term)
intoGenSKAP1
Cancer3DSKAP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604969   
Orphanet
MedgenSKAP1
Genetic Testing Registry SKAP1
NextProtQ86WV1 [Medical]
TSGene8631
GENETestsSKAP1
Huge Navigator SKAP1 [HugePedia]
snp3D : Map Gene to Disease8631
BioCentury BCIQSKAP1
ClinGenSKAP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8631
Chemical/Pharm GKB GenePA162403362
Clinical trialSKAP1
Miscellaneous
canSAR (ICR)SKAP1 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSKAP1
EVEXSKAP1
GoPubMedSKAP1
iHOPSKAP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:37:19 CEST 2017

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