SS18L1

SS18-like protein 1 is a protein that in humans is encoded by the SS18L1 gene.[5]

SS18L1
Identifiers
Aliases	SS18L1, CREST, LP2261, nBAF chromatin remodeling complex subunit, SS18L1 subunit of BAF chromatin remodeling complex
External IDs	OMIM: 606472 MGI: 2444061 HomoloGene: 9191 GeneCards: SS18L1
Gene location (Human) Chr. Chromosome 20 (human)[1] Band 20q13.33 Start 62,143,769 bp[1] End 62,182,514 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 H4 Start 180,042,509 bp[2] End 180,070,201 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding • GO:0001105 transcription coactivator activity Cellular component • condensed nuclear chromosome, centromeric region • condensed chromosome kinetochore • nBAF complex • nuclear body • chromosome, centromeric region • kinetochore • chromosome • cell nucleus • cytosol Biological process • positive regulation of transcription, DNA-templated • dendrite development • positive regulation of dendrite morphogenesis • regulation of dendrite development • regulation of transcription, DNA-templated • transcription, DNA-templated • chromatin organization • positive regulation of transcription from RNA polymerase II promoter Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	26039	269397
Ensembl	ENSG00000184402	ENSMUSG00000039086
UniProt	O75177	Q8BW22
RefSeq (mRNA)	NM_001301778 NM_015558 NM_198935	NM_178750
RefSeq (protein)	NP_001288707 NP_945173	NP_848865
Location (UCSC)	Chr 20: 62.14 – 62.18 Mb	Chr 2: 180.04 – 180.07 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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 is fused in-frame to the 3-prime end of the SSX1, SSX2, or SSX4 gene. The SS18L1 gene is homologous to SS18.[5]

Interactions

SS18L1 has been shown to interact with CREB-binding protein.[6] Biochemical pull down assays reveal SS18L1 to interact with several components of the human SWI/SNF chromatin remodeling complex.[7]

References

1. GRCh38: Ensembl release 89: ENSG00000184402 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000039086 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: SS18L1 synovial sarcoma translocation gene on chromosome 18-like 1".
6. Aizawa H, Hu SC, Bobb K, Balakrishnan K, Ince G, Gurevich I, Cowan M, Ghosh A (January 2004). "Dendrite development regulated by CREST, a calcium-regulated transcriptional activator". Science. 303 (5655): 197–202. Bibcode:2004Sci...303..197A. doi:10.1126/science.1089845. PMID 14716005. S2CID 20879721.
7. Middeljans E, Wan X, Jansen PW, Sharma V, Stunnenberg HG, Logie C (2012). "SS18 together with animal-specific factors defines human BAF-type SWI/SNF complexes". PLOS ONE. 7 (3): e33834. Bibcode:2012PLoSO...733834M. doi:10.1371/journal.pone.0033834. PMC 3307773. PMID 22442726.

Further reading

• Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (June 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". DNA Research. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
• de Bruijn DR, Kater-Baats E, Eleveld M, Merkx G, Geurts Van Kessel A (2001). "Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene". Cytogenetics and Cell Genetics. 92 (3–4): 310–9. doi:10.1159/000056920. PMID 11435705. S2CID 22518714.
• Storlazzi CT, Mertens F, Mandahl N, Gisselsson D, Isaksson M, Gustafson P, Domanski HA, Panagopoulos I (June 2003). "A novel fusion gene, SS18L1/SSX1, in synovial sarcoma". Genes, Chromosomes & Cancer. 37 (2): 195–200. doi:10.1002/gcc.10210. PMID 12696068. S2CID 40041616.
• Aizawa H, Hu SC, Bobb K, Balakrishnan K, Ince G, Gurevich I, Cowan M, Ghosh A (January 2004). "Dendrite development regulated by CREST, a calcium-regulated transcriptional activator". Science. 303 (5655): 197–202. Bibcode:2004Sci...303..197A. doi:10.1126/science.1089845. PMID 14716005. S2CID 20879721.
• Pradhan A, Liu Y (July 2005). "A multifunctional domain of the calcium-responsive transactivator (CREST) that inhibits dendritic growth in cultured neurons". The Journal of Biological Chemistry. 280 (26): 24738–43. doi:10.1074/jbc.M504018200. PMID 15866867.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• de Bruijn DR, Geurts van Kessel A (2006). "Common origin of the human synovial sarcoma associated SS18 and SS18L1 gene loci". Cytogenetic and Genome Research. 112 (3–4): 222–6. doi:10.1159/000089874. PMID 16484776.