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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 48711278 and ends at 48723334 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
  

External links

Nomenclature
HGNC (Hugo)NCKIPSD   15486
Entrez_Gene (NCBI)NCKIPSD  51517  NCK interacting protein with SH3 domain
Cards
AtlasAF3p21ID228
GeneCards (Weizmann)NCKIPSD
Ensembl (Hinxton)ENSG00000213672 [Gene_View]  chr3:48711278-48723334 [Contig_View]  NCKIPSD [Vega]
AceView (NCBI)NCKIPSD
Genatlas (Paris)NCKIPSD
SOURCE (Stanford)NM_016453 NM_184231
Genomic and cartography
GoldenPath (UCSC)NCKIPSD  -  3p21.31   chr3:48711278-48723334 -  3p21   [Description]    (hg19-Feb_2009)
EnsemblNCKIPSD - 3p21 [CytoView]
Mapping of homologs : NCBINCKIPSD [Mapview]
OMIM606671   
Gene and transcription
Genbank (Entrez)AF178432 AF303581 AJ242655 AK294151 AY453794
RefSeq transcript (SRS)NM_016453 NM_184231
RefSeq transcript (Entrez)NM_016453 NM_184231
RefSeq genomic (SRS)AC_000135 NC_000003 NC_018914 NT_022517 NW_001838877 NW_004078011
RefSeq genomic (Entrez)AC_000135 NC_000003 NC_018914 NT_022517 NW_001838877 NW_004078011
Consensus coding sequences : CCDS (NCBI)NCKIPSD
Cluster EST : UnigeneHs.655006 [ SRS ] Hs.655006 [ NCBI ]
CGAP (NCI)Hs.655006
Alternative Splicing : Fast-db (Paris)GSHG0021701
Alternative Splicing GalleryENSG00000213672
Gene ExpressionNCKIPSD [ NCBI-GEO ]   NCKIPSD [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZQ3 (SRS) Q9NZQ3 (Uniprot)
NextProtQ9NZQ3
With graphics : InterProQ9NZQ3
Splice isoforms : SwissVarQ9NZQ3(Swissvar)
Domaine pattern : Prosite (SRS)SH3 (PS50002)   
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (SRS)DUF2013    SH3_domain   
Domains : Interpro (EBI)DUF2013    SH3_domain   
Related proteins : CluSTrQ9NZQ3
Domain families : Pfam (SRS)DUF2013 (PF09431)    SH3_1 (PF00018)   
Domain families : Pfam (Sanger)DUF2013 (PF09431)    SH3_1 (PF00018)   
Domain families : Pfam (NCBI)pfam09431    pfam00018   
Domain families : Smart (EMBL)SH3 (SM00326)  
DMDM51517
Blocks (Seattle)Q9NZQ3
Human Protein AtlasENSG00000213672
HPRD09450
IPIIPI00009319   IPI00218563   IPI00555978   IPI00969137   IPI00969157   IPI00926742   IPI00926988   IPI00926287   IPI00926500   IPI00927766   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZQ3
IntAct (EBI)Q9NZQ3
FunCoupENSG00000213672
REACTOMENCKIPSD
Protein Interaction Database51517
BioGRIDNCKIPSD
InParanoidQ9NZQ3
Interologous Interaction database Q9NZQ3
IntegromeDBNCKIPSD
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)NCKIPSD
SNP (GeneSNP Utah)NCKIPSD
SNP : HGBaseNCKIPSD
Genetic variants : HAPMAPNCKIPSD
Somatic Mutations in Cancer : COSMICNCKIPSD 
CONAN: Copy Number AnalysisNCKIPSD 
Translocation Breakpoints in Cancer : TICdbNCKIPSD 
Mutations and Diseases : HGMDNCKIPSD
OMIM606671   
GENETests606671   
Disease Genetic AssociationNCKIPSD
Huge Navigator NCKIPSD [HugePedia]  NCKIPSD [HugeCancerGEM]
Genomic VariantsNCKIPSD  NCKIPSD [DGVbeta]
snp3D : Map Gene to Disease51517
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
Ontology : AmiGOprotein binding  intermediate filament  NLS-bearing substrate import into nucleus  cytoskeleton organization  signal transduction  cytoskeletal protein binding  signalosome  SH3 domain binding  
Ontology : EGO-EBIprotein binding  intermediate filament  NLS-bearing substrate import into nucleus  cytoskeleton organization  signal transduction  cytoskeletal protein binding  signalosome  SH3 domain binding  
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed23 Pubmed reference(s) in Entrez
PubGeneNCKIPSD
iHOPNCKIPSD

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 . NCKIPSD (NCK interacting protein with SH3 domain). Atlas Genet Cytogenet Oncol Haematol. February 2000 .
URL : http://AtlasGeneticsOncology.org/Genes/AF3p21ID228.html

This paper is referenced by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37580/1/02-2000-AF3p21ID228.pdf   [ Bibliographic record ]

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indexed on : Wed May 1 13:01:53 CEST 2013
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