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SETBP1
Identifiers
Aliases	SETBP1, SET binding protein 1, SEB, MRD29, SET bindign protein 1
External IDs	OMIM: 611060; MGI: 1933199; HomoloGene: 9192; GeneCards: SETBP1; OMA:SETBP1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human) Band 18q12.3 Start 44,680,173 bp End 45,068,510 bp
Gene location (Mouse) Chr. Chromosome 18 (mouse) Band 18|18 E3 Start 78,793,595 bp End 79,152,606 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone buccal mucosa cell caput epididymis saphenous vein ganglionic eminence tail of epididymis urethra seminal vesicula superficial temporal artery corpus epididymis Top expressed in spinal ganglia ventricular zone trigeminal ganglion peripheral nervous system ganglionic eminence superior cervical ganglion upper arm mesenchyme tail of embryo genital tubercle More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus cytosol nuclear body Biological process regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 26040 240427 Ensembl ENSG00000152217 ENSMUSG00000024548 UniProt Q9Y6X0 Q9Z180 RefSeq (mRNA) NM_001130110 NM_015559 NM_053099 RefSeq (protein) NP_001123582 NP_056374 NP_001366070 NP_001366071 NP_444329 Location (UCSC) Chr 18: 44.68 – 45.07 Mb Chr 18: 78.79 – 79.15 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

SET binding protein 1 is a protein that in humans is encoded by the SETBP1 gene.

Gene

The gene is located on Chromosome 18, specifically on the long (q) arm of the chromosome at position 12.3. This is also written as 18q12.3.

Function

The SETBP1 gene provides instructions for making a protein known as the SET binding protein 1, which is widely distributed throughout somatic cells. The protein is known to bind to another protein called SET. SETBP1 is a DNA-binding protein that forms part of a group of proteins that act together on histone methylation to make chromatin more accessible and regulate gene expression. There is still more to learn about the overall function of the SETBP1 protein and the effect of SET binding.

Clinical significance

Gain-of-function mutations in the SETBP1 gene are associated with Schinzel–Giedion syndrome.

Loss-of-function mutations in the SETBP1 gene are associated with a SETBP1-related developmental delay called SETBP1 disorder which causes a spectrum of symptoms including absent speech/expressive language delays, mild-severe intellectual disability, autistic-traits/autism, developmental delays, ADHD, and seizures.

SETBP1 is an oncogene; specific somatic mutations of this gene were discovered in patients affected by atypical Chronic Myeloid Leukemia (aCML) and related diseases. These mutations, which are identical to the ones present in SGS as germ line mutations, impair the degradation of SETBP1 and therefore cause increased cellular levels of the protein.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000152217 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000024548 – 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: SET binding protein 1".
6. Piazza R, Magistroni V, Redaelli S, Mauri M, Massimino L, Sessa A, et al. (June 2018). "SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub". Nature Communications. 9 (1): 2192. Bibcode:2018NatCo...9.2192P. doi:10.1038/s41467-018-04462-8. PMC 5989213. PMID 29875417.
7. Acuna-Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham SA, van Dam S, et al. (Mar 2017). "Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies". PLOS Genetics. 13 (3): e1006683. doi:10.1371/journal.pgen.1006683. PMC 5386295. PMID 28346496.
8. Filges I, Shimojima K, Okamoto N, Röthlisberger B, Weber P, Huber AR, et al. (Feb 2011). "Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome". Journal of Medical Genetics. 48 (2): 117–22. doi:10.1136/jmg.2010.084582. PMID 21037274. S2CID 38823269.
9. Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, et al. (October 2014). "Refining analyses of copy number variation identifies specific genes associated with developmental delay". Nature Genetics. 46 (10): 1063–71. doi:10.1038/ng.3092. PMC 4177294. PMID 25217958.
10. Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A, et al. (Jan 2013). "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia". Nature Genetics. 45 (1): 18–24. doi:10.1038/ng.2495. PMC 3588142. PMID 23222956.

Further reading

• Minakuchi M, Kakazu N, Gorrin-Rivas MJ, Abe T, Copeland TD, Ueda K, et al. (Mar 2001). "Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET". European Journal of Biochemistry. 268 (5): 1340–51. doi:10.1046/j.1432-1327.2001.02000.x. hdl:2433/150179. PMID 11231286.
• Suphapeetiporn K, Srichomthong C, Shotelersuk V (Apr 2011). "SETBP1 mutations in two Thai patients with Schinzel-Giedion syndrome". Clinical Genetics. 79 (4): 391–3. doi:10.1111/j.1399-0004.2010.01552.x. PMID 21371013. S2CID 29575566.
• Ott MG, Schmidt M, Schwarzwaelder K, Stein S, Siler U, Koehl U, et al. (Apr 2006). "Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1". Nature Medicine. 12 (4): 401–9. doi:10.1038/nm1393. PMID 16582916. S2CID 7601162.
• Filges I, Shimojima K, Okamoto N, Röthlisberger B, Weber P, Huber AR, et al. (Feb 2011). "Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome". Journal of Medical Genetics. 48 (2): 117–22. doi:10.1136/jmg.2010.084582. PMID 21037274. S2CID 38823269.
• Marseglia G, Scordo MR, Pescucci C, Nannetti G, Biagini E, Scandurra V, et al. (Mar 2012). "372 kb microdeletion in 18q12.3 causing SETBP1 haploinsufficiency associated with mild mental retardation and expressive speech impairment". European Journal of Medical Genetics. 55 (3): 216–21. doi:10.1016/j.ejmg.2012.01.005. PMID 22333924.
• Li R, Brockschmidt FF, Kiefer AK, Stefansson H, Nyholt DR, Song K, et al. (May 2012). "Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases". PLOS Genetics. 8 (5): e1002746. doi:10.1371/journal.pgen.1002746. PMC 3364959. PMID 22693459.
• Ishikawa K, Nagase T, Nakajima D, Seki N, Ohira M, Miyajima N, et al. (Oct 1997). "Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 4 (5): 307–13. doi:10.1093/dnares/4.5.307. PMID 9455477.
• Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A, et al. (Jan 2013). "Recurrent SETBP1 mutations in atypical chronic myeloid leukemia". Nature Genetics. 45 (1): 18–24. doi:10.1038/ng.2495. PMC 3588142. PMID 23222956.
• Ganesan AK, Kho Y, Kim SC, Chen Y, Zhao Y, White MA (Jun 2007). "Broad spectrum identification of SUMO substrates in melanoma cells". Proteomics. 7 (13): 2216–21. doi:10.1002/pmic.200600971. PMID 17549794. S2CID 46295254.

External links

• OMIM entry on Schinzel-Giedion Midface Retraction Syndrome

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

• SETBP1 Society - Non-profit providing support to individuals with SETBP1 disorder and their families, to promote discussion and fund research, and to bring awareness and education to the public.

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