SS18

Protein-coding gene in the species Homo sapiens
SS18
Identifiers
AliasesSS18, SSXT, SYT, nBAF chromatin remodeling complex subunit, SS18 subunit of BAF chromatin remodeling complex, SMARCL1
External IDsOMIM: 600192; MGI: 107708; HomoloGene: 38080; GeneCards: SS18; OMA:SS18 - orthologs
Gene location (Human)
Chromosome 18 (human)
Chr.Chromosome 18 (human)[1]
Chromosome 18 (human)
Genomic location for SS18
Genomic location for SS18
Band18q11.2Start26,016,253 bp[1]
End26,091,217 bp[1]
Gene location (Mouse)
Chromosome 18 (mouse)
Chr.Chromosome 18 (mouse)[2]
Chromosome 18 (mouse)
Genomic location for SS18
Genomic location for SS18
Band18|18 A1Start14,757,255 bp[2]
End14,815,971 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right adrenal cortex

  • stromal cell of endometrium

  • left ovary

  • Achilles tendon

  • left adrenal gland

  • right ovary

  • left adrenal cortex

  • skin of abdomen

  • gallbladder

  • tibial nerve
Top expressed in
  • zygote

  • ventricular zone

  • esophagus

  • tail of embryo

  • genital tubercle

  • lip

  • yolk sac

  • right kidney

  • morula

  • blastocyst
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • protein binding
  • nuclear receptor coactivator activity
  • transcription coactivator activity
Cellular component
  • cytoplasmic microtubule
  • npBAF complex
  • nucleus
  • SWI/SNF complex
Biological process
  • ephrin receptor signaling pathway
  • intracellular signal transduction
  • regulation of transcription, DNA-templated
  • cytoskeleton organization
  • microtubule cytoskeleton organization
  • cell morphogenesis
  • transcription, DNA-templated
  • positive regulation of transcription by RNA polymerase II
  • neuronal stem cell population maintenance
  • positive regulation of transcription, DNA-templated
  • regulation of nucleic acid-templated transcription
  • positive regulation of nucleic acid-templated transcription
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6760

268996

Ensembl

ENSG00000141380

ENSMUSG00000037013

UniProt

Q15532
Q4VAX0

Q62280

RefSeq (mRNA)

NM_001007559
NM_001308201
NM_005637

NM_001161369
NM_001161370
NM_001161371
NM_009280

RefSeq (protein)

NP_001007560
NP_001295130
NP_005628
NP_005628.2

NP_001154841
NP_001154842
NP_001154843
NP_033306

Location (UCSC)Chr 18: 26.02 – 26.09 MbChr 18: 14.76 – 14.82 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein SSXT is a protein that in humans is encoded by the SS18 gene.[5][6][7]

Function

SS18 is a member of the human SWI/SNF chromatin remodeling complex.[8][9][10]

Clinical significance

SS18 is involved in a chromosomal translocation commonly found in synovial sarcoma.[11]

Interactions

SS18 has been shown to interact with:

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000141380 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037013 – 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. ^ Shipley JM, Clark J, Crew AJ, Birdsall S, Rocques PJ, Gill S, Chelly J, Monaco AP, Abe S, Gusterson BA (May 1994). "The t(X;18)(p11.2;q11.2) translocation found in human synovial sarcomas involves two distinct loci on the X chromosome". Oncogene. 9 (5): 1447–53. PMID 8152806.
  6. ^ Clark J, Rocques PJ, Crew AJ, Gill S, Shipley J, Chan AM, Gusterson BA, Cooper CS (Aug 1994). "Identification of novel genes, SYT and SSX, involved in the t(X;18)(p11.2;q11.2) translocation found in human synovial sarcoma". Nature Genetics. 7 (4): 502–8. doi:10.1038/ng0894-502. PMID 7951320. S2CID 20503729.
  7. ^ 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.
  8. ^ 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.
  9. ^ a b Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, Ohtsuki Y, Sugano S, de Bruijn DR, Chait BT, Roeder RG (Feb 2002). "SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones". The Journal of Biological Chemistry. 277 (7): 5498–505. doi:10.1074/jbc.M108702200. hdl:2066/170683. PMID 11734557.
  10. ^ a b Perani M, Ingram CJ, Cooper CS, Garrett MD, Goodwin GH (Nov 2003). "Conserved SNH domain of the proto-oncoprotein SYT interacts with components of the human chromatin remodelling complexes, while the QPGY repeat domain forms homo-oligomers". Oncogene. 22 (50): 8156–67. doi:10.1038/sj.onc.1207031. PMID 14603256.
  11. ^ Yang K, Lui WO, Xie Y, Zhang A, Skytting B, Mandahl N, Larsson C, Larsson O (Jun 2002). "Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas". Oncogene. 21 (26): 4181–90. doi:10.1038/sj.onc.1205569. PMID 12037676.
  12. ^ Eid JE, Kung AL, Scully R, Livingston DM (Sep 2000). "p300 interacts with the nuclear proto-oncoprotein SYT as part of the active control of cell adhesion". Cell. 102 (6): 839–48. doi:10.1016/S0092-8674(00)00072-6. PMID 11030627. S2CID 17342132.
  13. ^ de Bruijn DR, dos Santos NR, Thijssen J, Balemans M, Debernardi S, Linder B, Young BD, Geurts van Kessel A (May 2001). "The synovial sarcoma associated protein SYT interacts with the acute leukemia associated protein AF10". Oncogene. 20 (25): 3281–9. doi:10.1038/sj.onc.1204419. PMID 11423977.

Further reading

  • Fligman I, Lonardo F, Jhanwar SC, Gerald WL, Woodruff J, Ladanyi M (Dec 1995). "Molecular diagnosis of synovial sarcoma and characterization of a variant SYT-SSX2 fusion transcript". The American Journal of Pathology. 147 (6): 1592–9. PMC 1869933. PMID 7495284.
  • Brett D, Whitehouse S, Antonson P, Shipley J, Cooper C, Goodwin G (Sep 1997). "The SYT protein involved in the t(X;18) synovial sarcoma translocation is a transcriptional activator localised in nuclear bodies". Human Molecular Genetics. 6 (9): 1559–64. doi:10.1093/hmg/6.9.1559. PMID 9285794.
  • Thaete C, Brett D, Monaghan P, Whitehouse S, Rennie G, Rayner E, Cooper CS, Goodwin G (Apr 1999). "Functional domains of the SYT and SYT-SSX synovial sarcoma translocation proteins and co-localization with the SNF protein BRM in the nucleus". Human Molecular Genetics. 8 (4): 585–91. doi:10.1093/hmg/8.4.585. PMID 10072425.
  • Eid JE, Kung AL, Scully R, Livingston DM (Sep 2000). "p300 interacts with the nuclear proto-oncoprotein SYT as part of the active control of cell adhesion". Cell. 102 (6): 839–48. doi:10.1016/S0092-8674(00)00072-6. PMID 11030627. S2CID 17342132.
  • Tamborini E, Agus V, Mezzelani A, Riva C, Sozzi G, Azzarelli A, Pierotti MA, Pilotti S (Apr 2001). "Identification of a novel spliced variant of the SYT gene expressed in normal tissues and in synovial sarcoma". British Journal of Cancer. 84 (8): 1087–94. doi:10.1054/bjoc.2000.1710. PMC 2363857. PMID 11308259.
  • Brodin B, Haslam K, Yang K, Bartolazzi A, Xie Y, Starborg M, Lundeberg J, Larsson O (May 2001). "Cloning and characterization of spliced fusion transcript variants of synovial sarcoma: SYT/SSX4, SYT/SSX4v, and SYT/SSX2v. Possible regulatory role of the fusion gene product in wild type SYT expression". Gene. 268 (1–2): 173–82. doi:10.1016/S0378-1119(01)00412-7. PMID 11368913.
  • de Bruijn DR, dos Santos NR, Thijssen J, Balemans M, Debernardi S, Linder B, Young BD, Geurts van Kessel A (May 2001). "The synovial sarcoma associated protein SYT interacts with the acute leukemia associated protein AF10". Oncogene. 20 (25): 3281–9. doi:10.1038/sj.onc.1204419. PMID 11423977.
  • Suzuki H, Fukunishi Y, Kagawa I, Saito R, Oda H, Endo T, Kondo S, Bono H, Okazaki Y, Hayashizaki Y (Oct 2001). "Protein-protein interaction panel using mouse full-length cDNAs" (PDF). Genome Research. 11 (10): 1758–65. doi:10.1101/gr.180101. PMC 311163. PMID 11591653.
  • Kato H, Tjernberg A, Zhang W, Krutchinsky AN, An W, Takeuchi T, Ohtsuki Y, Sugano S, de Bruijn DR, Chait BT, Roeder RG (Feb 2002). "SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones". The Journal of Biological Chemistry. 277 (7): 5498–505. doi:10.1074/jbc.M108702200. hdl:2066/170683. PMID 11734557.
  • Yang K, Lui WO, Xie Y, Zhang A, Skytting B, Mandahl N, Larsson C, Larsson O (Jun 2002). "Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas". Oncogene. 21 (26): 4181–90. doi:10.1038/sj.onc.1205569. PMID 12037676.
  • Imabayashi H, Mori T, Gojo S, Kiyono T, Sugiyama T, Irie R, Isogai T, Hata J, Toyama Y, Umezawa A (Aug 2003). "Redifferentiation of dedifferentiated chondrocytes and chondrogenesis of human bone marrow stromal cells via chondrosphere formation with expression profiling by large-scale cDNA analysis". Experimental Cell Research. 288 (1): 35–50. doi:10.1016/S0014-4827(03)00130-7. PMID 12878157.
  • Perani M, Ingram CJ, Cooper CS, Garrett MD, Goodwin GH (Nov 2003). "Conserved SNH domain of the proto-oncoprotein SYT interacts with components of the human chromatin remodelling complexes, while the QPGY repeat domain forms homo-oligomers". Oncogene. 22 (50): 8156–67. doi:10.1038/sj.onc.1207031. PMID 14603256.
  • Iwasaki T, Koibuchi N, Chin WW (Sep 2005). "Synovial sarcoma translocation (SYT) encodes a nuclear receptor coactivator". Endocrinology. 146 (9): 3892–9. doi:10.1210/en.2004-1513. PMID 15919756.
  • Fernebro J, Francis P, Edén P, Borg A, Panagopoulos I, Mertens F, Vallon-Christersson J, Akerman M, Rydholm A, Bauer HC, Mandahl N, Nilbert M (Mar 2006). "Gene expression profiles relate to SS18/SSX fusion type in synovial sarcoma". International Journal of Cancer. 118 (5): 1165–72. doi:10.1002/ijc.21475. PMID 16152617. S2CID 12084422.
  • Perani M, Antonson P, Hamoudi R, Ingram CJ, Cooper CS, Garrett MD, Goodwin GH (Dec 2005). "The proto-oncoprotein SYT interacts with SYT-interacting protein/co-activator activator (SIP/CoAA), a human nuclear receptor co-activator with similarity to EWS and TLS/FUS family of proteins". The Journal of Biological Chemistry. 280 (52): 42863–76. doi:10.1074/jbc.M502963200. PMID 16227627.
  • Sun Y, Gao D, Liu Y, Huang J, Lessnick S, Tanaka S (Feb 2006). "IGF2 is critical for tumorigenesis by synovial sarcoma oncoprotein SYT-SSX1". Oncogene. 25 (7): 1042–52. doi:10.1038/sj.onc.1209143. PMID 16247461.