AF3p21

Identity

HGNC	NCKIPSD
Location	3p21
Location_base_pair	Starts at 48686282 and ends at 48698338 bp from pter ( according to hg18-Mar_2006).

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	NCKIPSD   15486
Entrez_Gene	NCKIPSD  51517  NCK interacting protein with SH3 domain
	Cards
Atlas	AF3p21ID228
GeneCards	NCKIPSD
Ensembl	ENSG00000213672 [Gene_View]  NCKIPSD [Vega]
Genatlas	NCKIPSD
	Genomic and cartography
GoldenPath	NCKIPSD  -  3p21   chr3:48686282-48698338 -  3p21   [Description]    (hg18-Mar_2006)
Ensembl	NCKIPSD - 3p21 [CytoView]
NCBI	Mapview
OMIM	606671 Disease map [OMIM]
HomoloGene	NCKIPSD
	Gene and transcription
Genbank	AF178432 [ ENTREZ ]
Genbank	AF303581 [ ENTREZ ]
Genbank	AJ242655 [ ENTREZ ]
Genbank	AY453794 [ ENTREZ ]
Genbank	BC006255 [ ENTREZ ]
RefSeq	NM_016453 [ SRS ]    NM_016453 [ ENTREZ ]
RefSeq	NM_184231 [ SRS ]    NM_184231 [ ENTREZ ]
RefSeq	AC_000046 [ SRS ]    AC_000046 [ ENTREZ ]
RefSeq	AC_000135 [ SRS ]    AC_000135 [ ENTREZ ]
RefSeq	NC_000003 [ SRS ]    NC_000003 [ ENTREZ ]
RefSeq	NT_022517 [ SRS ]    NT_022517 [ ENTREZ ]
RefSeq	NW_001838877 [ SRS ]    NW_001838877 [ ENTREZ ]
RefSeq	NW_921651 [ SRS ]    NW_921651 [ ENTREZ ]
CCDS	NCKIPSD CCDS - NCBI
AceView	NCKIPSD AceView - NCBI
Unigene	Hs.655006 [ SRS ]    Hs.655006 [ NCBI ]
Fast-db	6311 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q6GU34 [ SRS]    Q6GU34 [ EXPASY ]     Q6GU34 [ INTERPRO ]     Q6GU34 [ UNIPROT ] Q6GU34 [ VarSplice FASTA ]
Prosite	PS50002 SH3 [ SRS ]    PS50002 SH3 [ Expasy ]
Interpro	IPR001452 SH3 [ SRS ]    IPR001452 SH3 [ EBI ]
CluSTr	Q6GU34
Pfam	PF00018 SH3_1 [ SRS ]    PF00018 SH3_1 [ Sanger ]    pfam00018 [ NCBI-CDD ]
Smart	SM00326 SH3 [EMBL]
Prodom	PD000066 SH3[INRA-Toulouse]
Prodom	Q6GU34 Q6GU34_HUMAN [ Domain structure ]   Q6GU34 Q6GU34_HUMAN  [ sequences sharing at least 1 domain ]
Blocks	Q6GU34
HPRD	09450
	Protein Interaction databases
DIP	Q6GU34
IntAct	Q6GU34
	Polymorphism : SNP, mutations, diseases
OMIM	606671    [ map ]
GENETests	606671
SNP	NCKIPSD [dbSNP-NCBI]
SNP	NM_016453 [SNP-NCI]
SNP	NM_184231 [SNP-NCI]
SNP	NCKIPSD [GeneSNPs - Utah]  NCKIPSD] [HGBASE - SRS]
HAPMAP	NCKIPSD [HAPMAP]
COSMIC	NCKIPSD [Somatic mutation (COSMIC-CGP-Sanger)]
TICdb	NCKIPSD [Translocation breakpoints In Cancer]
HGMD	NCKIPSD
Genetic Association	NCKIPSD
CDC HuGE	NCKIPSD
	General knowledge
Family Browser	NCKIPSD [UCSC Family Browser]
SOURCE	NM_016453
SOURCE	NM_184231
SMD	Hs.655006
SAGE	Hs.655006
GO	nucleus [Amigo]  nucleus
GO	intermediate filament [Amigo]  intermediate filament
GO	NLS-bearing substrate import into nucleus [Amigo]  NLS-bearing substrate import into nucleus
GO	cytoskeleton organization and biogenesis [Amigo]  cytoskeleton organization and biogenesis
GO	signal transduction [Amigo]  signal transduction
GO	cytoskeletal protein binding [Amigo]  cytoskeletal protein binding
PubGene	NCKIPSD
TreeFam	NCKIPSD
CTD	51517 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	Cancer Cytogenetics (Bari)
Probe	NCKIPSD Related clones (RZPD - Berlin)
	PubMed
PubMed	13 Pubmed reference(s) in Entrez

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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written	02-2000	Jean-Loup Huret

Citation

This paper should be referenced as such :

Huret JL . AF3p21. Atlas Genet Cytogenet Oncol Haematol. February 2000 . URL : http://AtlasGeneticsOncology.org/Genes/AF3p21ID228.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Dec 6 17:53:31 2008