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DAB2IP (DAB2 interacting protein)

Written2003-08Anne RM von Bergh
Afdeling Klinische Genetica, Erasmus MC, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands

(Note : for Links provided by Atlas : click)

Identity

Other aliasAIP1
AF9q34
DIP1/2,
KIAA1743
LocusID (NCBI) 153090
Atlas_Id 316
Location 9q33.2  [Link to chromosome band 9q33]
Location_base_pair Starts at and ends at bp from pter
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CCDC93 (2q14.1) / DAB2IP (9q33.2)CEP85L (6q22.31) / DAB2IP (9q33.2)DAB2IP (9q33.2) / DAB2IP (9q33.2)
DAB2IP (9q33.2) / HTN3 (4q13.3)DAB2IP (9q33.2) / KMT2A (11q23.3)DAB2IP (9q33.2) / SLC44A4 (6p21.33)
EPHA7 (6q16.1) / DAB2IP (9q33.2)KMT2A (11q23.3) / DAB2IP (9q33.2)MAFK (7p22.3) / DAB2IP (9q33.2)
PROX1 (1q32.3) / DAB2IP (9q33.2)TARBP1 (1q42.2) / DAB2IP (9q33.2)
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

Note
  
Entity t(9;11)(q34;q23) AML --> KMT2A- DAB2IP
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.
Hybrid/Mutated Gene 5' MLL fused at exon 9 with the 3' end of AFq34.
 
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.
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.
  

Bibliography

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
 
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).
 

Citation

This paper should be referenced as such :
von Bergh, ARM
DAB2IP (DAB2 interacting protein)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):214-215.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/AF9q34ID316.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 6 ]
  t(9;11)(q34;q23) KMT2A/DAB2IP
t(9;11)(q33;q23) KMT2A/DAB2IP
11q23 rearrangements (KMT2A) in leukaemia
t(1;9)(p13;p12) PAX5/HIPK1
t(9;11)(q34;q23) KMT2A/DAB2IP
t(9;11)(q33;q23) KMT2A/DAB2IP


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(4;9)(q13;q33) DAB2IP/HTN3
t(6;9)(p21;q33) DAB2IP/SLC44A4


External links

Nomenclature
Cards
AtlasAF9q34ID316.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)153090
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Thu Oct 18 17:27:40 CEST 2018

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