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Gene Section
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SMAP1 (stromal membrane-associated protein 1)
Kenji Tanabe, Shunsuke Kon, Masanobu Satake
Department of Molecular Immunology, Institute of Development, Aging, and Cancer, Tohoku University,
Sendai, Japan (KT, SK, MS)
Published in Atlas Database: March 2008
Online updated version: http://AtlasGeneticsOncology.org/Genes/SMAP1ID42974ch6q13.html
DOI: 10.4267/2042/44388
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2009 Atlas of Genetics and Cytogenetics in Oncology and Haematology
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.
Identity
Other names: FLJ13159; FLJ42245; SMAP-1
HGNC (Hugo): SMAP1
Location: 6q13
Local order: Between D6S455 and D6S1673.
Expression
Both isoform transcripts are detected in various human
tissues. Expression appears to be almost ubiquitous.
DNA/RNA
Localisation
Description
SMAP1 protein is detected in the cytoplasm of cells,
and appears to be highly concentrated near the plasma
membrane.
The gene spans an approximately 190 kb region, and is
composed of 11 exons.
Function
Transcription
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, clathrindependent endocytosis. This is achieved by direct
interaction of SMAP1 with clathrin heavy chain.
There is only one transcription initiation site. However,
due to alternative splicing, generated are two types of
transcripts, isoforms A and B. The length of each
transcript is either 3344 (isoform A) or 3263 nt
(isoform B). The isoform A retains, and the isoform B
lacks in-flame exon 5, respectively.
Homology
Protein
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.
Note
SMAP1 is a member in the ArfGAP protein family.
Implicated in
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.
t(6;11)(q13;q23) in acute leukemia
Note
Two cases have been reported so far.
Description
There are two isoform proteins. One translated from an
Atlas Genet Cytogenet Oncol Haematol. 2009; 13(1)
68
SMAP1 (stromal membrane-associated protein 1)
Tanabe K, et al.
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.
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.
Diagnostic tool for the identification of MLL rearrangements
including unknown partner genes. Proc Natl Acad Sci U S A.
2005 Jan 11;102(2):449-54
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'-MLLSMAP1-3' transcript encodes a chimeric MLL-SMAP1
protein.
Abnormal protein
MLL-SMAP1
Tanabe K, Torii T, Natsume W, Braesch-Andersen S,
Watanabe T, Satake M. A novel GTPase-activating protein for
ARF6 directly interacts with clathrin and regulates clathrindependent endocytosis. Mol Biol Cell. 2005 Apr;16(4):1617-28
Natsume W, Tanabe K, Kon S, Yoshida N, Watanabe T, Torii
T, Satake M. 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. Mol Biol Cell. 2006 Jun;17(6):2592-603
Tanabe K, Kon S, Natsume W, Torii T, Watanabe T, Satake M.
Involvement of a novel ADP-ribosylation factor GTPaseactivating protein, SMAP, in membrane trafficking: implications
in cancer cell biology. Cancer Sci. 2006 Sep;97(9):801-6
References
Harrison CJ, Cuneo A, Clark R, Johansson B, LafagePochitaloff M, Mugneret F, Moorman AV, Secker-Walker LM.
Ten novel 11q23 chromosomal partner sites. European 11q23
Workshop participants. Leukemia. 1998 May;12(5):811-22
This article should be referenced as such:
Tanabe K, Kon S, Satake M. SMAP1 (stromal membraneassociated protein 1). Atlas Genet Cytogenet Oncol Haematol.
2009; 13(1):68-69.
Marcos I, Borrego S, Rodríguez de Córdoba S, Galán JJ,
Antiñolo G. Cloning, characterization and chromosome
mapping of the human SMAP1 gene. Gene. 2002 Jun
12;292(1-2):167-71
Atlas Genet Cytogenet Oncol Haematol. 2009; 13(1)
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