| Note | SMAP1 is a member in the ArfGAP protein family. |
| |
| |  |
| |
| | GAP, an ArfGAP domain; K-rich, a lysine-rich region; CHC, a clathrin heavy chain-binding motif; CALM, a clathrin assembly protein (CALM)-binding domain. |
| |
| Description | There are two isoform proteins. One translated from an isoform A transcript is constituted by 467, and the other from an isoform B is by 440 aa residues. A protein diagram shown above represents an isoform B type. |
| Expression | Both isoform transcripts are detected in various human tissues. Expression appears to be almost ubiquitous. |
| Localisation | SMAP1 protein is detected in the cytoplasm of cells, and appears to be highly concentrated near the plasma membrane. |
| Function | SMAP1 functions as a GTPase-activating protein for an Arf6 GTPase. Arf6 is a Ras-related, small GTPase, and regulates clathrin-dependent and -independent endocytosis as well as actin dynamics. SMAP1 is specifically involved in the Arf6-regulated, clathrin-dependent endocytosis. This is achieved by direct interaction of SMAP1 with clathrin heavy chain. |
| Homology | As a highly homologous gene to SMAP1, SMAP2 is identified on 1p34.1-35.3. SMAP1 and SMAP2 constitute a small subfamily in the ArfGAP family. SMAP2 protein is specifically involved in the early endosomes to trans-Golgi network transport. |
| Entity | t(6;11)(q13;q23) in acute leukemia. |
| Note | Two cases have been reported so far.
|
| Disease | One case is from an M4 subtype of acute myeloid leukemia. A type of leukemia is not described for the other case. |
| Hybrid/Mutated Gene | One leukemia patient possessed the 46, XX, t(6;11)(q13;q23) karyotype. In this patient, reciprocal translocation occured between intron 11 of MLL gene and intron 6 of SMAP1 gene. The chimeric 5'-MLL-SMAP1-3' transcript encodes a chimeric MLL-SMAP1 protein. |
| Abnormal Protein | MLL-SMAP1 |
| |  |
| |
| Schematic illustration of chimeric MLL-SMAP1 protein. The authentic MLL and SMAP1 proteins are also shown.
AT hook, an AT-hook domain; NLS, a nuclear localization signal; MT, a methyltransferase domain; PHD, a plant homeodomain zinc finger; BROMO, a bromo domain; SET, a su(var)3-9, enhancer-of-zeste, trithorax domain. GAP, an ArfGAP domain; K-rich, a lysine-rich region; CHC, a clathrin heavy chain-binding motif; CALM, a clathrin assembly protein (CALM)-binding domain. |
| | |
| Ten novel 11q23 chromosomal partner sites. European 11q23 Workshop participants. |
| Harrison CJ, Cuneo A, Clark R, Johansson B, Lafage-Pochitaloff M, Mugneret F, Moorman AV, Secker-Walker LM |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1998 ; 12 (5) : 811-822. |
| PMID 9593286 |
| |
| Cloning, characterization and chromosome mapping of the human SMAP1 gene. |
| Marcos I, Borrego S, Rodrˆ‚guez de Cˆ„rdoba S, Galˆ°n JJ, Antiˆ±olo G |
| Gene. 2002 ; 292 (1-2) : 167-171. |
| PMID 12119110 |
| |
| Diagnostic tool for the identification of MLL rearrangements including unknown partner genes. |
| Meyer C, Schneider B, Reichel M, Angermueller S, Strehl S, Schnittger S, Schoch C, Jansen MW, van Dongen JJ, Pieters R, Haas OA, Dingermann T, Klingebiel T, Marschalek R |
| Proceedings of the National Academy of Sciences of the United States of America. 2005 ; 102 (2) : 449-454. |
| PMID 15626757 |
| |
| A novel GTPase-activating protein for ARF6 directly interacts with clathrin and regulates clathrin-dependent endocytosis. |
| Tanabe K, Torii T, Natsume W, Braesch-Andersen S, Watanabe T, Satake M |
| Molecular biology of the cell. 2005 ; 16 (4) : 1617-1628. |
| PMID 15659652 |
| |
| SMAP2, a novel ARF GTPase-activating protein, interacts with clathrin and clathrin assembly protein and functions on the AP-1-positive early endosome/trans-Golgi network. |
| Natsume W, Tanabe K, Kon S, Yoshida N, Watanabe T, Torii T, Satake M |
| Molecular biology of the cell. 2006 ; 17 (6) : 2592-2603. |
| PMID 16571680 |
| |
| Involvement of a novel ADP-ribosylation factor GTPase-activating protein, SMAP, in membrane trafficking: implications in cancer cell biology. |
| Tanabe K, Kon S, Natsume W, Torii T, Watanabe T, Satake M |
| Cancer science. 2006 ; 97 (9) : 801-806. |
| PMID 16805823 |
| |