SETBP1

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)
End	45,068,510 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	79,152,606 bp
RNA expression pattern
	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
	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
	26040
	240427
	ENSG00000152217
	ENSMUSG00000024548
	Q9Y6X0
	Q9Z180
	NM_001130110 ; NM_015559
	NM_053099
	NP_001123582 ; NP_056374 ; NP_001366070 ; NP_001366071
	NP_444329
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 06, 2024

SET binding protein 1 is a protein that in humans is encoded by the SETBP1 gene.^[5]

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.^[6] 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.^[7]

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.^[8]^[9]

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.^[10]

Related Research Articles

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000152217 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024548 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Entrez Gene: SET binding protein 1".
↑ 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.
↑ 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.
↑ 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.
↑ 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.
↑ 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.

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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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000152217 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-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.

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