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NCKIPSD (NCK interacting protein with SH3 domain)

Written2000-02Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

HGNC (Hugo) NCKIPSD
LocusID (NCBI) 51517
Atlas_Id 228
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 48711272 and ends at 48723366 bp from pter ( according to hg19-Feb_2009)  [Mapping NCKIPSD.png]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2016)
CELSR3 (3p21.31) / NCKIPSD (3p21.31)KMT2A (11q23.3) / NCKIPSD (3p21.31)NCKIPSD (3p21.31) / CELSR3 (3p21.31)
NCKIPSD (3p21.31) / KMT2A (11q23.3)NCKIPSD (3p21.31) / LPP (3q28)SEC14L6 (22q12.2) / NCKIPSD (3p21.31)

DNA/RNA

Description 2990 bp cDNA

Protein

Description 722 amino acids; N-term SH3 domain, proline-rich domain, and a nuclear localization signal in C-term
Expression wide

Implicated in

Note
Entity t(3;11)(p21;q23) --> AF3p21-MLL
Disease treatment related acute non lymphoblastic leukemia (t-AML)
Hybrid/Mutated Gene 5 prime MLL-3 prime AF3q21
Abnormal Protein AT hooks and methyltransferase domains of MLL in the N-term fused to the proline-rich domain and nuclear localization signal of AF3p21
  

Bibliography

Isochromosome 17q in blast crisis of chronic myeloid leukemia and in other hematologic malignancies is the result of clustered breakpoints in 17p11 and is not associated with coding TP53 mutations.
Fioretos T, Strömbeck B, Sandberg T, Johansson B, Billström R, Borg A, Nilsson PG, Van Den Berghe H, Hagemeijer A, Mitelman F, Höglund M
Blood. 1999 ; 94 (1) : 225-232.
PMID 10381517
 

Citation

This paper should be referenced as such :
Huret, JL
AF3p21 (ALL1 fused gene from chromosome 3p21)
Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):13-13.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/AF3p21ID228.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  11q23 rearrangements (KMT2A) in leukaemia
t(3;4)(p21;q34)
t(3;11)(p21;q23) KMT2A/NCKIPSD

External links

Nomenclature
HGNC (Hugo)NCKIPSD   15486
Cards
AtlasAF3p21ID228
Entrez_Gene (NCBI)NCKIPSD  51517  NCK interacting protein with SH3 domain
AliasesAF3P21; DIP; DIP1; ORF1; 
SPIN90; VIP54; WASLBP; WISH
GeneCards (Weizmann)NCKIPSD
Ensembl hg19 (Hinxton)ENSG00000213672 [Gene_View]  chr3:48711272-48723366 [Contig_View]  NCKIPSD [Vega]
Ensembl hg38 (Hinxton)ENSG00000213672 [Gene_View]  chr3:48711272-48723366 [Contig_View]  NCKIPSD [Vega]
ICGC DataPortalENSG00000213672
TCGA cBioPortalNCKIPSD
AceView (NCBI)NCKIPSD
Genatlas (Paris)NCKIPSD
WikiGenes51517
SOURCE (Princeton)NCKIPSD
Genomic and cartography
GoldenPath hg19 (UCSC)NCKIPSD  -     chr3:48711272-48723366 -  3p21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NCKIPSD  -     3p21   [Description]    (hg38-Dec_2013)
EnsemblNCKIPSD - 3p21 [CytoView hg19]  NCKIPSD - 3p21 [CytoView hg38]
Mapping of homologs : NCBINCKIPSD [Mapview hg19]  NCKIPSD [Mapview hg38]
OMIM606671   
Gene and transcription
Genbank (Entrez)AF178432 AF303581 AI863106 AJ242655 AK294151
RefSeq transcript (Entrez)NM_016453 NM_184231
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929309
Consensus coding sequences : CCDS (NCBI)NCKIPSD
Cluster EST : UnigeneHs.655006 [ NCBI ]
CGAP (NCI)Hs.655006
Alternative Splicing GalleryENSG00000213672
Gene ExpressionNCKIPSD [ NCBI-GEO ]   NCKIPSD [ EBI - ARRAY_EXPRESS ]   NCKIPSD [ SEEK ]   NCKIPSD [ MEM ]
Gene Expression Viewer (FireBrowse)NCKIPSD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51517
GTEX Portal (Tissue expression)NCKIPSD
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZQ3 (Uniprot)
NextProtQ9NZQ3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZQ3
Splice isoforms : SwissVarQ9NZQ3 (Swissvar)
PhosPhoSitePlusQ9NZQ3
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)DUF2013    SH3_domain   
Domain families : Pfam (Sanger)DUF2013 (PF09431)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam09431    pfam00018   
Domain families : Smart (EMBL)SH3 (SM00326)  
DMDM Disease mutations51517
Blocks (Seattle)NCKIPSD
SuperfamilyQ9NZQ3
Human Protein AtlasENSG00000213672
Peptide AtlasQ9NZQ3
HPRD09450
IPIIPI00009319   IPI00218563   IPI00555978   IPI00969137   IPI00969157   IPI00926742   IPI00926988   IPI00926287   IPI00926500   IPI00927766   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZQ3
IntAct (EBI)Q9NZQ3
FunCoupENSG00000213672
BioGRIDNCKIPSD
STRING (EMBL)NCKIPSD
ZODIACNCKIPSD
Ontologies - Pathways
QuickGOQ9NZQ3
Ontology : AmiGOprotein binding  cytosol  intermediate filament  NLS-bearing protein import into nucleus  cytoskeleton organization  signal transduction  cytoskeletal protein binding  COP9 signalosome  positive regulation of neuron projection development  SH3 domain binding  Fc-gamma receptor signaling pathway involved in phagocytosis  
Ontology : EGO-EBIprotein binding  cytosol  intermediate filament  NLS-bearing protein import into nucleus  cytoskeleton organization  signal transduction  cytoskeletal protein binding  COP9 signalosome  positive regulation of neuron projection development  SH3 domain binding  Fc-gamma receptor signaling pathway involved in phagocytosis  
REACTOMEQ9NZQ3 [protein]
REACTOME PathwaysR-HSA-5663213 RHO GTPases Activate WASPs and WAVEs [pathway]
REACTOME PathwaysR-HSA-2029482 Regulation of actin dynamics for phagocytic cup formation [pathway]
NDEx NetworkNCKIPSD
Atlas of Cancer Signalling NetworkNCKIPSD
Wikipedia pathwaysNCKIPSD
Orthology - Evolution
OrthoDB51517
GeneTree (enSembl)ENSG00000213672
Phylogenetic Trees/Animal Genes : TreeFamNCKIPSD
Homologs : HomoloGeneNCKIPSD
Homology/Alignments : Family Browser (UCSC)NCKIPSD
Gene fusions - Rearrangements
Fusion : MitelmanNCKIPSD/CELSR3 [3p21.31/3p21.31]  
Fusion : COSMICKMT2A [11q23.3]  -  NCKIPSD [3p21.31]  [fusion_1944]  [fusion_1946]  
Fusion : TICdbKMT2A [11q23.3]  -  NCKIPSD [3p21.31]
Polymorphisms : SNP, variants
NCBI Variation ViewerNCKIPSD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NCKIPSD
dbVarNCKIPSD
ClinVarNCKIPSD
1000_GenomesNCKIPSD 
Exome Variant ServerNCKIPSD
ExAC (Exome Aggregation Consortium)NCKIPSD (select the gene name)
Genetic variants : HAPMAP51517
Genomic Variants (DGV)NCKIPSD [DGVbeta]
Mutations
ICGC Data PortalNCKIPSD 
TCGA Data PortalNCKIPSD 
Broad Tumor PortalNCKIPSD
OASIS PortalNCKIPSD [ Somatic mutations - Copy number]
Cancer Gene: CensusNCKIPSD 
Somatic Mutations in Cancer : COSMICNCKIPSD 
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 NCKIPSD
DgiDB (Drug Gene Interaction Database)NCKIPSD
DoCM (Curated mutations)NCKIPSD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NCKIPSD (select a term)
intoGenNCKIPSD
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)3:48711272-48723366  ENSG00000213672
CONAN: Copy Number AnalysisNCKIPSD 
Mutations and Diseases : HGMDNCKIPSD
OMIM606671   
MedgenNCKIPSD
Genetic Testing Registry NCKIPSD
NextProtQ9NZQ3 [Medical]
TSGene51517
GENETestsNCKIPSD
Huge Navigator NCKIPSD [HugePedia]
snp3D : Map Gene to Disease51517
BioCentury BCIQNCKIPSD
ClinGenNCKIPSD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51517
Chemical/Pharm GKB GenePA134872724
Clinical trialNCKIPSD
Miscellaneous
canSAR (ICR)NCKIPSD (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNCKIPSD
EVEXNCKIPSD
GoPubMedNCKIPSD
iHOPNCKIPSD
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 19 19:28:41 CEST 2016

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For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.