SS18 (synovial sarcoma translocation, chromosome 18)

Identity

Other names	MGC116875
	SSXT
	SYT
Hugo	SS18
Location	18q11.2

DNA/RNA

Note	Member of the SS18 family. SYT, one of the alternative gene names, has continued to be used in the literature for this gene.
Description	11 exons, spaning approximately 75 kb of genomic DNA in the telomere-to-centromere orientation on chromosome 18q11.2 The promoter region lacks CAAT and TATA boxes but contains CpG islands, suggesting that SS18 is a housekeeping gene.
Transcription	Exon 8 is spliced out with different ratio in the various tissues by alternative splicing.
Pseudogene	SS18L2 (3p21)

Protein

Description	418 amino acids. 2 domains; the SHN domain (the SYT N-terminal homology domain) that is found in proteins from a wide variety of species ranging from plants to human, and the QPGY domain at the C-terminal part, rich in glutamine, proline, glycine and tyrosine. Four putative src-homology binding domains and two annexin-like direct repeats were exhibited in the SS18 protein. SS18 protein binds to p300, hBRM, AF10 and SIN3A proteins. The QPGY domain activates transcription when coupled to a DNA-binding domain.
Expression	Ubiquitous
Localisation	Nuclear
Function	Transcriptional coactivator
Homology	SS18L1, SS18L2

Implicated in

Entity	Synovial sarcoma
Prognosis	A high grade sarcoma that leads to death in at least 25% of patients within five years of diagnosis. Prognosis may be different between the synovial sarcoma patients with SYT-SSX1 and SYT-SSX2.
Cytogenetics	t(X;18)(p11.2;q11.2)
Hybrid/Mutated Gene	SYT-SSX1, SYT-SSX2, SYT-SSX4; the exon 10 of the SS18 (SYT) gene is fused to exon 6 of the SSX genes.
Abnormal Protein	The last 8 amino acid residues of the SS18 (SYT) protein are replaced by 78 amino acids from the C-terminal part of SSX proteins.

Breakpoints

External links

	Nomenclature
Hugo	SS18
GDB	SS18
Entrez_Gene	SS18  6760  synovial sarcoma translocation, chromosome 18
	Cards
Atlas	SS18ID84ch18q11
GeneCards	SS18
Ensembl	SS18 [Search_View]   ENSG00000141380 [Gene_View]
Genatlas	SS18
GeneLynx	SS18
eGenome	SS18
euGene	6760
	Genomic and cartography
GoldenPath	SS18  -  18q11.2   chr18:21850217-21924609 -  18q11.2   [Description]    (hg18-Mar_2006)
Ensembl	SS18 - 18q11.2 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	SS18
	Gene and transcription
Genbank	AB300354 [ ENTREZ ]
Genbank	AB300355 [ ENTREZ ]
Genbank	AB300356 [ ENTREZ ]
Genbank	AB300357 [ ENTREZ ]
Genbank	AF244972 [ ENTREZ ]
RefSeq	NM_001007559 [ SRS ]    NM_001007559 [ ENTREZ ]
RefSeq	NM_005637 [ SRS ]    NM_005637 [ ENTREZ ]
RefSeq	AC_000061 [ SRS ]    AC_000061 [ ENTREZ ]
RefSeq	NC_000018 [ SRS ]    NC_000018 [ ENTREZ ]
RefSeq	NT_010966 [ SRS ]    NT_010966 [ ENTREZ ]
RefSeq	NW_927095 [ SRS ]    NW_927095 [ ENTREZ ]
AceView	SS18 AceView - NCBI
Unigene	Hs.404263 [ SRS ]    Hs.404263 [ NCBI ]     HS404263 [ spliceNest ]
Fast-db	2799 (alternative variants)
	Protein : pattern, domain, 3D structure
SwissProt	Q15532 [ SRS]    Q15532 [ EXPASY ]     Q15532 [ INTERPRO ]
Interpro	IPR007726 SSXT [ SRS ]    IPR007726 SSXT [ EBI ]
CluSTr	Q15532
Pfam	PF05030 SSXT [ SRS ]    PF05030 SSXT [ Sanger ]    pfam05030 [ NCBI-CDD ]
Blocks	Q15532
HPRD	02559
	Protein Interaction databases
DIP	Q15532
IntAct	Q15532
	Polymorphism : SNP, mutations, diseases
OMIM	600192    [ map ]
GENECLINICS	600192
SNP	SS18 [dbSNP-NCBI]
SNP	NM_001007559 [SNP-NCI]
SNP	NM_005637 [SNP-NCI]
SNP	SS18 [GeneSNPs - Utah]  SS18] [HGBASE - SRS]
HAPMAP	SS18 [HAPMAP]
COSMIC	SS18 [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	SS18
	General knowledge
Family Browser	SS18 [UCSC Family Browser]
SOURCE	NM_001007559
SOURCE	NM_005637
SMD	Hs.404263
SAGE	Hs.404263
GO	nucleus [Amigo]  nucleus
PubGene	SS18
TreeFam	SS18
CTD	6760 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	SS18 Related clones (RZPD - Berlin)
	PubMed
PubMed	25 Pubmed reference(s) in LocusLink

Bibliography

Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma.

Clark J, Rocques PJ, Crew AJ, Gill S, Shipley J, Chan AM, Gusterson BA, Cooper CS

Nature genetics. 1994 ; 7 (4) : 502-508.

PMID 7951320

Isolation and characterization of the mouse homolog of SYT, a gene implicated in the development of human synovial sarcomas.

de Bruijn DR, Baats E, Zechner U, de Leeuw B, Balemans M, Olde Weghuis D, Hirning-Folz U, Geurts van Kessel AG

Oncogene. 1996 ; 13 (3) : 643-648.

PMID 8760306

SYT-SSX gene fusion as a determinant of morphology and prognosis in synovial sarcoma.

Kawai A, Woodruff J, Healey JH, Brennan MF, Antonescu CR, Ladanyi M

The New England journal of medicine. 1998 ; 338 (3) : 153-160.

PMID 9428816

A novel fusion gene, SYT-SSX4, in synovial sarcoma.

Skytting B, Nilsson G, Brodin B, Xie Y, Lundeberg J, Uhlˆ©n M, Larsson O

Journal of the National Cancer Institute. 1999 ; 91 (11) : 974-975.

PMID 10359553

Functional domains of the SYT and SYT-SSX synovial sarcoma translocation proteins and co-localization with the SNF protein BRM in the nucleus.

Thaete C, Brett D, Monaghan P, Whitehouse S, Rennie G, Rayner E, Cooper CS, Goodwin G

Human molecular genetics. 1999 ; 8 (4) : 585-591.

PMID 10072425

p300 interacts with the nuclear proto-oncoprotein SYT as part of the active control of cell adhesion.

Eid JE, Kung AL, Scully R, Livingston DM

Cell. 2000 ; 102 (6) : 839-848.

PMID 11030627

A reverse transcriptase-polymerase chain reaction assay in the diagnosis of soft tissue sarcomas.

Naito N, Kawai A, Ouchida M, Dan'ura T, Morimoto Y, Ozaki T, Shimizu K, Inoue H

Cancer. 2000 ; 89 (9) : 1992-1998.

PMID 11064357

The synovial sarcoma associated protein SYT interacts with the acute leukemia associated protein AF10.

de Bruijn DR, dos Santos NR, Thijssen J, Balemans M, Debernardi S, Linder B, Young BD, Geurts van Kessel A

Oncogene. 2001 ; 20 (25) : 3281-3289.

PMID 11423977

Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene.

de Bruijn DR, Kater-Baats E, Eleveld M, Merkx G, Geurts Van Kessel A

Cytogenetics and cell genetics. 2001 ; 92 (3-4) : 310-319.

PMID 11435705

Splicing isoform of SYT-SSX fusion protein accelerates transcriptional activity and cell proliferation.

Morimoto Y, Ouchida M, Ozaki T, Kawai A, Ito T, Yoshida A, Inoue H, Shimizu K

Cancer letters. 2003 ; 199 (1) : 35-43.

PMID 12963121

SYT, a partner of SYT-SSX oncoprotein in synovial sarcomas, interacts with mSin3A, a component of histone deacetylase complex.

Ito T, Ouchida M, Ito S, Jitsumori Y, Morimoto Y, Ozaki T, Kawai A, Inoue H, Shimizu K

Laboratory investigation; a journal of technical methods and pathology. 2004 ; 84 (11) : 1484-1490.

PMID 15467731

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

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Contributor(s)

Written	05-2006	Mamoru Ouchida
		Department of Molecular Genetics, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University. Shikata-cho 2-5-1, Okayama 700-8558, Japan

Citation

This paper should be referenced as such :

Ouchida M . SS18 (synovial sarcoma translocation, chromosome 18). Atlas Genet Cytogenet Oncol Haematol. May 2006 . URL : http://AtlasGeneticsOncology.org/Genes/SS18ID84ch18q11.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Wed Jul 2 08:27:14 2008