SS18L1 (synovial sarcoma translocation gene on chromosome 18-like 1)
2005-03-01 Clelia Tiziana Storlazzi , Fredrik Mertens , Ioannis Panagopoulos AffiliationDepartment 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
Disease
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.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 14716005 | 2004 | Dendrite development regulated by CREST, a calcium-regulated transcriptional activator. | Aizawa H et al |
| 9734811 | 1998 | Prediction 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 |
| 12696068 | 2003 | A novel fusion gene, SS18L1/SSX1, in synovial sarcoma. | Storlazzi CT et al |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | Strausberg RL et al |
| 11435705 | 2001 | Mapping 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 ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000184402 | ENST00000331758 | O75177 |
| ENSG00000184402 | ENST00000370848 | O75177 |
| ENSG00000184402 | ENST00000450482 | Q9BR54 |
| ENSG00000184402 | ENST00000492466 | H0YDW4 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38907739 | 2024 | Identification of a novel MEF2C::SS18L1 fusion in childhood acute B-lymphoblastic leukemia. | 0 |
| 38907739 | 2024 | Identification of a novel MEF2C::SS18L1 fusion in childhood acute B-lymphoblastic leukemia. | 0 |
| 35584997 | 2022 | The SS18L1 gene rs2295207 polymorphisms in association with hepatocellular carcinoma. | 0 |
| 35584997 | 2022 | The SS18L1 gene rs2295207 polymorphisms in association with hepatocellular carcinoma. | 0 |
| 33398438 | 2021 | Protein expression pattern of calcium-responsive transactivator in early postnatal and adult testes. | 3 |
| 33398438 | 2021 | Protein expression pattern of calcium-responsive transactivator in early postnatal and adult testes. | 3 |
| 25888396 | 2015 | Calcium-responsive transactivator (CREST) protein shares a set of structural and functional traits with other proteins associated with amyotrophic lateral sclerosis. | 13 |
| 25888396 | 2015 | Calcium-responsive transactivator (CREST) protein shares a set of structural and functional traits with other proteins associated with amyotrophic lateral sclerosis. | 13 |
| 24360741 | 2014 | Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis. | 18 |
| 24360741 | 2014 | Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis. | 18 |
| 23708140 | 2013 | Exome sequencing to identify de novo mutations in sporadic ALS trios. | 79 |
| 23708140 | 2013 | Exome sequencing to identify de novo mutations in sporadic ALS trios. | 79 |
| 19851296 | 2010 | Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. | 7 |
| 20198315 | 2010 | Association of genetic variants with hemorrhagic stroke in Japanese individuals. | 17 |
| 19851296 | 2010 | Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. | 7 |
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-(synovial-sarcoma-translocation-gene-on-chromosome-18-like-1)
