Version 5.4
Homo sapiens Gene: SS18L1
Summary
InnateDB Gene IDBG-84021.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SS18L1
Gene Name synovial sarcoma translocation gene on chromosome 18-like 1
Synonyms CREST; LP2261
Species Homo sapiens
Ensembl Gene ENSG00000184402
Encoded Proteins
IDBP-84023
synovial sarcoma translocation gene on chromosome 18-like 1
IDBP-84025
synovial sarcoma translocation gene on chromosome 18-like 1
IDBP-380097
synovial sarcoma translocation gene on chromosome 18-like 1
IDBP-600826
synovial sarcoma translocation gene on chromosome 18-like 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Synovial sarcomas occur most frequently in the extremities around large joints. More than 90% of cases have a recurrent and specific chromosomal translocation, t(X;18)(p11.2;q11.2), in which the 5-prime end of the SS18 gene (MIM 600192) is fused in-frame to the 3-prime end of the SSX1 (MIM 312820), SSX2 (MIM 300192), or SSX4 (MIM 300326) gene. The SS18L1 gene is homologous to SS18.[supplied by OMIM, Jul 2002]
This gene encodes a calcium-responsive transactivator which is an essential subunit of a neuron-specific chromatin-remodeling complex. The structure of this gene is similar to that of the SS18 gene. Mutations in this gene are involved in amyotrophic lateral sclerosis (ALS). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:62143795-62182484
Strand Forward strand
Band q13.33
Transcripts
ENST00000370848 ENSP00000359885
ENST00000331758 ENSP00000333012
ENST00000450482 ENSP00000398634
ENST00000491916
ENST00000492466 ENSP00000434451
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 31 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 31 [view]
Protein-Protein 31 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0016358 dendrite development
GO:0016568 chromatin modification
GO:0045893 positive regulation of transcription, DNA-templated
GO:0050773 regulation of dendrite development
Cellular Component
GO:0000776 kinetochore
GO:0000777 condensed chromosome kinetochore
GO:0000780 condensed nuclear chromosome, centromeric region
GO:0005634 nucleus
GO:0016604 nuclear body
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000039086
View Gene Order
ENSBTAG00000014438
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.154429
RefSeq NM_198935 XM_005260391 XM_006723771
HUGO
OMIM
CCDS CCDS13491
HPRD 09398
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca