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

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

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

Identity

HGNC

SS18L1

LOCATION

20q13.33

LOCUSID

26039

ALIAS

CREST,LP2261

FUSION GENES

Show Gene Fusions

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

Synovial sarcoma

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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