DAB2IP (DAB2 interacting protein)

Identity

Other names	AF9q34
	DIP1/2,
	KIAA1743
HGNC	DAB2IP
Location	9q34

Note	centromeric of ABL

DNA/RNA

Description	14 exons stretched over an area of about 84 kb. Exon 1, a noncoding exon, has (at least) three variants.
Transcription	in a centromere to telomere direction 5192 bp mRNA; 2903 bp open reading frame.

Protein

Description	The AF9q34 protein contains a GAP related domain (GRD), an 'FLR'-motif, a Pleckstrin homology (PH) domain and a calcium/phospho-lipid-binding C2/CALB domain; 967 amino acids.
Expression	Expression in all human tissues with a relatively low level of expression in testis, placenta, spleen and peripheral blood leukocytes.
Function	RasGAPs negatively regulate the activity of Ras proteins that modulate diverse cellular processes by cycling between the inactive GDP-bound and active GTP-bound state. DAB2 interacting protein.
Homology	Homologous to human nGAP (or RAS protein activator like 2 (RASAL2)).

Implicated in

Entity	t(9;11)(q34;q23) AML --> MLL-AF9q34
Note	Another t(9;11)(q34;q23) AML has been reported with involvement of MLL-FBP17.
Disease	Only one case to date, a 62 yr old male patient with Acute Myeloid Leukemia (M5).
Cytogenetics	The case was 46, XY, t(9;11)(q34;q23) and in 40% of the metaphases additional chromosomes 8 and 13 were observed.
	Schematic representation of MLL, AF9q34, and the putative MLL-AF9q34 fusion protein. Domains in MLL and AF9q34 are shaded: AT, AT-hook DNA binding motifs; SNL1 and SNL2, speckled nuclear localisation signals 1 and 2; CxxC, cysteine rich motif homologous to DNA methyltransferase (MT); PHD, plant homeodomain fingers; FYRN, FYRN domain; FYRC. FYRC domain; SET, SET domain; PH, Pleckstrin Homology Domain; GRD, GAP Related Domain. Arrows indicate the breakpoint (bp) sites in MLL and AF9q34.
Hybrid/Mutated Gene	5' MLL fused at exon 9 with the 3' end of AFq34.
Abnormal Protein	The MLL-AF9q34 protein includes the entire GAP related domain (GRD) and the C2/CALB domain, but the PH domain is disrupted by the breakpoint in AF9q34.

External links

	Nomenclature
HGNC	DAB2IP   17294
Entrez_Gene	DAB2IP  153090  DAB2 interacting protein
	Cards
Atlas	AF9q34ID316
GeneCards	DAB2IP
Ensembl	DAB2IP [Search_View]   ENSG00000136848 [Gene_View]
Genatlas	DAB2IP
GeneLynx	DAB2IP
eGenome	DAB2IP
euGene	153090
	Genomic and cartography
GoldenPath	DAB2IP  -  9q34   chr9:123369220-123587630 +  9q33.1-q33.3   [Description]    (hg18-Mar_2006)
Ensembl	DAB2IP - 9q33.1-q33.3 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	DAB2IP
	Gene and transcription
Genbank	AB051530 [ ENTREZ ]
Genbank	AF367051 [ ENTREZ ]
Genbank	AK054851 [ ENTREZ ]
Genbank	AK096391 [ ENTREZ ]
Genbank	AK124609 [ ENTREZ ]
RefSeq	NM_032552 [ SRS ]    NM_032552 [ ENTREZ ]
RefSeq	NM_138709 [ SRS ]    NM_138709 [ ENTREZ ]
RefSeq	AC_000052 [ SRS ]    AC_000052 [ ENTREZ ]
RefSeq	AC_000141 [ SRS ]    AC_000141 [ ENTREZ ]
RefSeq	NC_000009 [ SRS ]    NC_000009 [ ENTREZ ]
RefSeq	NT_008470 [ SRS ]    NT_008470 [ ENTREZ ]
RefSeq	NW_001839237 [ SRS ]    NW_001839237 [ ENTREZ ]
RefSeq	NW_924573 [ SRS ]    NW_924573 [ ENTREZ ]
AceView	DAB2IP AceView - NCBI
Unigene	Hs.522378 [ SRS ]    Hs.522378 [ NCBI ]     HS522378 [ spliceNest ]
Fast-db	14396 (alternative variants)
	Protein : pattern, domain, 3D structure
HPRD	09903
	Protein Interaction databases
	Polymorphism : SNP, mutations, diseases
OMIM	609205    [ map ]
GENECLINICS	609205
SNP	DAB2IP [dbSNP-NCBI]
SNP	NM_032552 [SNP-NCI]
SNP	NM_138709 [SNP-NCI]
SNP	DAB2IP [GeneSNPs - Utah]  DAB2IP] [HGBASE - SRS]
HAPMAP	DAB2IP [HAPMAP]
TICdb	DAB2IP [Translocation breakpoints In Cancer]
HGMD	DAB2IP
	General knowledge
Family Browser	DAB2IP [UCSC Family Browser]
SOURCE	NM_032552
SOURCE	NM_138709
SMD	Hs.522378
SAGE	Hs.522378
GO	GTPase activator activity [Amigo]  GTPase activator activity
GO	intracellular [Amigo]  intracellular
GO	cytoplasm [Amigo]  cytoplasm
GO	signal transduction [Amigo]  signal transduction
GO	membrane [Amigo]  membrane
GO	negative regulation of cell cycle [Amigo]  negative regulation of cell cycle
GO	regulation of small GTPase mediated signal transduction [Amigo]  regulation of small GTPase mediated signal transduction
PubGene	DAB2IP
TreeFam	DAB2IP
CTD	153090 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	clones RP6-10F14 and RP6-105L9
Probe	DAB2IP Related clones (RZPD - Berlin)
	PubMed
PubMed	17 Pubmed reference(s) in Entrez

Bibliography

Cloning of unknown MLL fusion transcripts identifies two novel MLL fusion partners.

von Bergh A, Beverloo B, Slater R, Groot A, Rombout P, Kluin P, Schuuring E

Blood. 2000 ; 96 (numero Suppl 1).

Differential regulation of the human gene DAB2IP in normal and malignant prostatic epithelia: cloning and characterization.

Chen H, Pong RC, Wang Z, Hsieh JT

Genomics. 2002 ; 79 (4) : 573-581.

PMID 11944990

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

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Contributor(s)

Written	08-2003	Anne RM von Bergh

Citation

This paper should be referenced as such :

von Bergh ARM . DAB2IP (DAB2 interacting protein). Atlas Genet Cytogenet Oncol Haematol. August 2003 . URL : http://AtlasGeneticsOncology.org/Genes/AF9q34ID316.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Sep 29 18:35:46 2008