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Taking over the Atlas
Dear Colleagues,
The Atlas, once more, is in great danger, and I will have to proceed to a collective economic lay-off of all the team involved in the Atlas before the begining of April 2015 (a foundation having suddenly withdrawn its commitment to support the Atlas). I ask you herein if any Scientific Society (a Society of Cytogenetics, of Clinical Genetics, of Hematology, or a Cancer Society, or any other...), any University and/or Hospital, any Charity, or any database would be interested in taking over the Atlas, in whole or in part. If taking charge of the whole lot is too big, a consortium of various actors could be the solution (I am myself trying to find partners). Could you please spread the information, contact the relevant authorities, and find partners.
Survival of the Atlas will be critically dependant upon your ability to find solutions (and urgently!).
Kind regards.
Jean-Loup Huret
Donations are also welcome
If each casual visitor gives 3 Euros or Dollars, the Atlas is saved in a week !
If each professional gives 100 Euros or Dollars once a year (now), the Atlas is saved in 2 weeks !
Don't let the Atlas imminent demise
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NCKIPSD (NCK interacting protein with SH3 domain)


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


Description 2990 bp cDNA


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

HGNC (Hugo)NCKIPSD   15486
Entrez_Gene (NCBI)NCKIPSD  51517  NCK interacting protein with SH3 domain
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
Genatlas (Paris)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]
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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
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    SH3_domain   
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
Peptide AtlasQ9NZQ3
IPIIPI00009319   IPI00218563   IPI00555978   IPI00969137   IPI00969157   IPI00926742   IPI00926988   IPI00926287   IPI00926500   IPI00927766   
Protein Interaction databases
IntAct (EBI)Q9NZQ3
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  
REACTOMEQ9NZQ3 [protein]
REACTOME PathwaysREACT_6900 Immune System [pathway]
Protein Interaction DatabaseNCKIPSD
DoCM (Curated mutations)NCKIPSD
Wikipedia pathwaysNCKIPSD
Gene fusion - rearrangements
Rearrangement : TICdbKMT2A [11q23.3]  -  NCKIPSD [6p21.1]
Polymorphisms : SNP, variants
NCBI Variation ViewerNCKIPSD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NCKIPSD
Exome Variant ServerNCKIPSD
Genetic variants : HAPMAPNCKIPSD
Genomic Variants (DGV)NCKIPSD [DGVbeta]
ICGC Data PortalENSG00000213672 
Cancer Gene: CensusNCKIPSD 
Somatic Mutations in Cancer : COSMICNCKIPSD 
CONAN: Copy Number AnalysisNCKIPSD 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
DECIPHER (Syndromes)3:48711272-48723366
Mutations and Diseases : HGMDNCKIPSD
NextProtQ9NZQ3 [Medical]
Disease Genetic AssociationNCKIPSD
Huge Navigator NCKIPSD [HugePedia]  NCKIPSD [HugeCancerGEM]
snp3D : Map Gene to Disease51517
DGIdb (Drug Gene Interaction db)NCKIPSD
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
ProbeCancer Cytogenetics (Bari)
PubMed29 Pubmed reference(s) in Entrez


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


Written02-2000Jean-Loup Huret


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 ]

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Feb 17 20:23:49 CET 2015

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