Atlas of Genetics and Cytogenetics in Oncology and Haematology
DAB2IP (DAB2 interacting protein)
| Identity |
| Other names | AF9q34 |
| DIP1/2, | |
| KIAA1743 | |
| HGNC (Hugo) | DAB2IP |
| LocusID (NCBI) | 153090 |
| Location | 9q34 |
| Location_base_pair | Starts at 124329399 and ends at 124547809 bp from pter ( according to hg19-Feb_2009) [Mapping] |
 | |
| Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics | |
| 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 |
| 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 |
| 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 |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/38003/1/08-2003-AF9q34ID316.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Apr 28 15:08:03 CEST 2012 |
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