SS18L1 (synovial sarcoma translocation gene on chromosome 18-like 1)

2005-03-01   Clelia Tiziana Storlazzi , Fredrik Mertens , Ioannis Panagopoulos 

Department of Clinical Genetics, Lund University Hospital, Lund, Sweden (FM, IP)

Identity

HGNC
LOCATION
20q13.33
LOCUSID
ALIAS
CREST,LP2261
FUSION GENES

DNA/RNA

Note

Member of the SS18 family.

Description

11 exons with similar splice sites as SS18.The promoter region lacks CAAT and TATA boxes but contains CpG islands, suggesting that SS18L1 is a housekeeping gene.

Pseudogene

SS18L2 (3p21)

Proteins

Description

396 amino acids, 42990 Da. The SS18L1 protein, similarly to the SS18 protein, exhibits two domains: a SYT N-terminal homology domain found in a wide variety of species ranging from plants to humans and the QPGY domain at the COOH-terminal part, rich in glutamine, proline, glycine, and tyrosine. The QPGY domain of the SS18 protein may activate transcription when coupled to a DNA-binding domain.

Expression

Ubiquitous; with lowest levels in spleen.

Localisation

Nuclear?

Function

Calcium-responsive transactivator: CREST is a SYT -related nuclear protein that interacts with CREB-binding protein (CBP) and is expressed in the developing brain.

Homology

SS18, SS18L2

Implicated in

Prognosis
Unknown
Cytogenetics
t(X;20)(p11;q13.3)
Hybrid gene
In the SS18L1/ SSX1 transcript detected in the synovial sarcoma, the exon 10 of SS18L1, which corresponds to exon 10 of SS18, was fused to exon 6 of SSX1
Fusion protein
In the putative SS18L1/SSX1 chimeric protein, the last 8 amino acid residues of the SS18L1 protein are replaced by 78 amino acids from the COOH-terminal part of SSX1. By analogy with what is presumed to be the case for the SS18/SSX fusion protein, SS18L1/SSX1 is likely to show an altered transcriptional pattern with the COOH-terminal SSX domain, redirecting the SS18L1 activation domain to new target promoters.

Bibliography

Pubmed IDLast YearTitleAuthors
147160052004Dendrite development regulated by CREST, a calcium-regulated transcriptional activator.Aizawa H et al
97348111998Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.Ishikawa K et al
126960682003A novel fusion gene, SS18L1/SSX1, in synovial sarcoma.Storlazzi CT et al
124779322002Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.Strausberg RL et al
114357052001Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene.de Bruijn DR et al

Other Information

Locus ID:

NCBI: 26039
MIM: 606472
HGNC: 15592
Ensembl: ENSG00000184402

Variants:

dbSNP: 26039
ClinVar: 26039
TCGA: ENSG00000184402
COSMIC: SS18L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184402ENST00000331758O75177
ENSG00000184402ENST00000370848O75177
ENSG00000184402ENST00000450482Q9BR54
ENSG00000184402ENST00000492466H0YDW4

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
237081402013Exome sequencing to identify de novo mutations in sporadic ALS trios.63
126960682003A novel fusion gene, SS18L1/SSX1, in synovial sarcoma.14
243607412014Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.13
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
258883962015Calcium-responsive transactivator (CREST) protein shares a set of structural and functional traits with other proteins associated with amyotrophic lateral sclerosis.10
197248952009Association of gene polymorphisms with chronic kidney disease in Japanese individuals.7
158668672005A multifunctional domain of the calcium-responsive transactivator (CREST) that inhibits dendritic growth in cultured neurons.3
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.3
164847762006Common origin of the human synovial sarcoma associated SS18 and SS18L1 gene loci.2

Citation

Clelia Tiziana Storlazzi ; Fredrik Mertens ; Ioannis Panagopoulos

SS18L1 (synovial sarcoma translocation gene on chromosome 18-like 1)

Atlas Genet Cytogenet Oncol Haematol. 2005-03-01

Online version: http://atlasgeneticsoncology.org/gene/474/ss18l1