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NCKIPSD (NCK interacting protein with SH3 domain)

Identity

HGNC (Hugo) NCKIPSD
LocusID (NCBI) 51517
Location 3p21.31
Location_base_pair Starts at 48711272 and ends at 48723366 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

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

Entity t(3;11)(p21;q23) --> AF3p21-MLL
Disease treatment related acute non lymphoblastic leukemia (t-ANLL)
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
  

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131

External links

Nomenclature
HGNC (Hugo)NCKIPSD   15486
Cards
AtlasAF3p21ID228
Entrez_Gene (NCBI)NCKIPSD  51517  NCK interacting protein with SH3 domain
GeneCards (Weizmann)NCKIPSD
Ensembl (Hinxton)ENSG00000213672 [Gene_View]  chr3:48711272-48723366 [Contig_View]  NCKIPSD [Vega]
ICGC DataPortalENSG00000213672
cBioPortalNCKIPSD
AceView (NCBI)NCKIPSD
Genatlas (Paris)NCKIPSD
WikiGenes51517
SOURCE (Princeton)NM_016453 NM_184231
Genomic and cartography
GoldenPath (UCSC)NCKIPSD  -  3p21.31   chr3:48711272-48723366 -  3p21   [Description]    (hg19-Feb_2009)
EnsemblNCKIPSD - 3p21 [CytoView]
Mapping of homologs : NCBINCKIPSD [Mapview]
OMIM606671   
Gene and transcription
Genbank (Entrez)AF178432 AF303581 AI863106 AJ242655 AK294151
RefSeq transcript (Entrez)NM_016453 NM_184231
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NT_022517 NW_001838877 NW_004929309
Consensus coding sequences : CCDS (NCBI)NCKIPSD
Cluster EST : UnigeneHs.655006 [ NCBI ]
CGAP (NCI)Hs.655006
Alternative Splicing : Fast-db (Paris)GSHG0021701
Alternative Splicing GalleryENSG00000213672
Gene ExpressionNCKIPSD [ NCBI-GEO ]     NCKIPSD [ SEEK ]   NCKIPSD [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZQ3 (Uniprot)
NextProtQ9NZQ3  [Medical]
With graphics : InterProQ9NZQ3
Splice isoforms : SwissVarQ9NZQ3 (Swissvar)
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)DUF2013 [organisation]   SH3_domain [organisation]  
Related proteins : CluSTrQ9NZQ3
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)Q9NZQ3
Human Protein AtlasENSG00000213672 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidQ9NZQ3
Interologous Interaction database Q9NZQ3
IntegromeDBNCKIPSD
STRING (EMBL)NCKIPSD
Ontologies - Pathways
Ontology : AmiGOprotein binding  cytosol  intermediate filament  NLS-bearing protein import into nucleus  cytoskeleton organization  signal transduction  cytoskeletal protein binding  COP9 signalosome  SH3 domain binding  Fc-gamma receptor signaling pathway involved in phagocytosis  innate immune response  
Ontology : EGO-EBIprotein binding  cytosol  intermediate filament  NLS-bearing protein import into nucleus  cytoskeleton organization  signal transduction  cytoskeletal protein binding  COP9 signalosome  SH3 domain binding  Fc-gamma receptor signaling pathway involved in phagocytosis  innate immune response  
Protein Interaction DatabaseNCKIPSD
Wikipedia pathwaysNCKIPSD
Gene fusion - rearrangments
Rearrangement : TICdbKMT2A [11q23.3]  -  NCKIPSD [6p21.1]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)NCKIPSD
snp3D : Map Gene to Disease51517
SNP (GeneSNP Utah)NCKIPSD
SNP : HGBaseNCKIPSD
Genetic variants : HAPMAPNCKIPSD
Exome VariantNCKIPSD
1000_GenomesNCKIPSD 
ICGC programENSG00000213672 
Cancer Gene: CensusNCKIPSD 
Somatic Mutations in Cancer : COSMICNCKIPSD 
CONAN: Copy Number AnalysisNCKIPSD 
Mutations and Diseases : HGMDNCKIPSD
Mutations and Diseases : intOGenNCKIPSD
Genomic VariantsNCKIPSD  NCKIPSD [DGVbeta]
dbVarNCKIPSD
ClinVarNCKIPSD
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM606671   
MedgenNCKIPSD
GENETestsNCKIPSD
Disease Genetic AssociationNCKIPSD
Huge Navigator NCKIPSD [HugePedia]  NCKIPSD [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneNCKIPSD
Homology/Alignments : Family Browser (UCSC)NCKIPSD
Phylogenetic Trees/Animal Genes : TreeFamNCKIPSD
Chemical/Protein Interactions : CTD51517
Chemical/Pharm GKB GenePA134872724
Clinical trialNCKIPSD
Cancer Resource (Charite)ENSG00000213672
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed29 Pubmed reference(s) in Entrez
CoreMineNCKIPSD
iHOPNCKIPSD
OncoSearchNCKIPSD

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, Strˆmbeck B, Sandberg T, Johansson B, Billstrˆm R, Borg A, Nilsson PG, Van Den Berghe H, Hagemeijer A, Mitelman F, Hˆglund M
Blood. 1999 ; 94 (1) : 225-232.
PMID 10381517
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written02-2000Jean-Loup Huret

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/AF3p21ID228.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Sep 5 10:47:58 CEST 2014

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