SS18L1

SS18L1
Identifiers
Aliases	SS18L1 , CREST, LP2261, nBAF chromatin remodeling complex subunit, SS18L1 subunit of BAF chromatin remodeling complex, SMARCL2
External IDs	OMIM: 606472; MGI: 2444061; HomoloGene: 9191; GeneCards: SS18L1; OMA:SS18L1 - orthologs
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 179,684,302 bp [2] End 179,711,994 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lateral nuclear group of thalamus cerebellar vermis cerebellar hemisphere postcentral gyrus right hemisphere of cerebellum skin of thigh ganglionic eminence pons right lobe of liver tibia Top expressed in Region I of hippocampus proper otolith organ utricle paraventricular nucleus of hypothalamus dorsomedial hypothalamic nucleus zygote ventral tegmental area supraoptic nucleus arcuate nucleus lateral hypothalamus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding transcription coactivator activity Cellular component nBAF complex nuclear body chromosome, centromeric region kinetochore chromosome 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 by RNA polymerase II 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: 179.68 – 179.71 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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.