SMAP1 (stromal membrane-associated protein 1)

Identity

Other names	FLJ13159
	FLJ42245
	SMAP-1
HGNC	SMAP1
Location	6q13
Location_base_pair	Starts at 71434200 and ends at 71628437 bp from pter (hg18-Mar_2006).
Local_order	Between D6S455 and D6S1673

DNA/RNA

Description	The gene spans an approximately 190 kb region, and is composed of 11 exons.
Transcription	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.

Protein

	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.

Implicated in

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.

External links

	Nomenclature
HGNC	SMAP1   19651
Entrez_Gene	SMAP1  60682  stromal membrane-associated GTPase-activating protein 1
	Cards
Atlas	SMAP1ID42974ch6q13
GeneCards	SMAP1
Ensembl	SMAP1 [Search_View]   ENSG00000112305 [Gene_View]
Genatlas	SMAP1
GeneLynx	SMAP1
eGenome	SMAP1
euGene	60682
	Genomic and cartography
GoldenPath	SMAP1  -  6q13   chr6:71434200-71628437 +  6q12-q13   [Description]    (hg18-Mar_2006)
Ensembl	SMAP1 - 6q12-q13 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	SMAP1
	Gene and transcription
Genbank	AF442495 [ ENTREZ ]
Genbank	AK023221 [ ENTREZ ]
Genbank	AK074340 [ ENTREZ ]
Genbank	AK124239 [ ENTREZ ]
Genbank	AK222711 [ ENTREZ ]
RefSeq	NM_001044305 [ SRS ]    NM_001044305 [ ENTREZ ]
RefSeq	NM_021940 [ SRS ]    NM_021940 [ ENTREZ ]
RefSeq	AC_000049 [ SRS ]    AC_000049 [ ENTREZ ]
RefSeq	AC_000138 [ SRS ]    AC_000138 [ ENTREZ ]
RefSeq	NC_000006 [ SRS ]    NC_000006 [ ENTREZ ]
RefSeq	NT_007299 [ SRS ]    NT_007299 [ ENTREZ ]
RefSeq	NW_001838987 [ SRS ]    NW_001838987 [ ENTREZ ]
RefSeq	NW_923184 [ SRS ]    NW_923184 [ ENTREZ ]
AceView	SMAP1 AceView - NCBI
Unigene	Hs.485717 [ SRS ]    Hs.485717 [ NCBI ]     HS485717 [ spliceNest ]
	Protein : pattern, domain, 3D structure
SwissProt	Q8IYB5 [ SRS]    Q8IYB5 [ EXPASY ]     Q8IYB5 [ INTERPRO ]     Q8IYB5 [ UNIPROT ]
Prosite	PS50115 ARFGAP [ SRS ]    PS50115 ARFGAP [ Expasy ]
Interpro	IPR001164 ArfGAP [ SRS ]    IPR001164 ArfGAP [ EBI ]
CluSTr	Q8IYB5
Pfam	PF01412 ArfGap [ SRS ]    PF01412 ArfGap [ Sanger ]    pfam01412 [ NCBI-CDD ]
Smart	SM00105 ArfGap [EMBL]
Blocks	Q8IYB5
PDB	2CRR [ SRS ]    2CRR [ PdbSum ],   2CRR [ IMB ]   2CRR [ RSDB ]
HPRD	18072
	Protein Interaction databases
DIP	Q8IYB5
IntAct	Q8IYB5
	Polymorphism : SNP, mutations, diseases
OMIM	611372    [ map ]
GENECLINICS	611372
SNP	SMAP1 [dbSNP-NCBI]
SNP	NM_001044305 [SNP-NCI]
SNP	NM_021940 [SNP-NCI]
SNP	SMAP1 [GeneSNPs - Utah]  SMAP1] [HGBASE - SRS]
HAPMAP	SMAP1 [HAPMAP]
HGMD	SMAP1
	General knowledge
Family Browser	SMAP1 [UCSC Family Browser]
SOURCE	NM_001044305
SOURCE	NM_021940
SMD	Hs.485717
SAGE	Hs.485717
GO	plasma membrane [Amigo]  plasma membrane
GO	ARF GTPase activator activity [Amigo]  ARF GTPase activator activity
GO	zinc ion binding [Amigo]  zinc ion binding
GO	regulation of ARF GTPase activity [Amigo]  regulation of ARF GTPase activity
GO	metal ion binding [Amigo]  metal ion binding
PubGene	SMAP1
TreeFam	SMAP1
CTD	60682 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	SMAP1 Related clones (RZPD - Berlin)
	PubMed
PubMed	12 Pubmed reference(s) in Entrez

Bibliography

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

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

Search in all EBI   NCBI

Contributor(s)

Written	03-2008	Kenji Tanabe, Shunsuke Kon, Masanobu Satake
		Department of Molecular Immunology, Institute of Development, Aging, and Cancer, Tohoku University, Sendai, Japan

Citation

This paper should be referenced as such :

Tanabe K, Kon S, Satake M . SMAP1 (stromal membrane-associated protein 1). Atlas Genet Cytogenet Oncol Haematol. March 2008 . URL : http://AtlasGeneticsOncology.org/Genes/SMAP1ID42974ch6q13.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sat Oct 11 12:57:10 2008