STAG1

STAG1
Identifiers
Aliases	STAG1, SA1, SCC3A, stromal antigen 1, MRD47
External IDs	OMIM: 604358; MGI: 1098658; HomoloGene: 21191; GeneCards: STAG1; OMA:STAG1 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	136,752,403 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	100,841,428 bp
RNA expression pattern
	Top expressed in
	Achilles tendon; ; parotid gland; ; sural nerve; ; ventricular zone; ; synovial joint; ; Skeletal muscle tissue of rectus abdominis; ; tail of epididymis; ; ganglionic eminence; ; pericardium; ; superficial temporal artery;
	Top expressed in
	tail of embryo; ; genital tubercle; ; ureter; ; ventricular zone; ; Gonadal ridge; ; medial ganglionic eminence; ; cumulus cell; ; spermatocyte; ; abdominal wall; ; maxillary prominence;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	DNA-binding transcription activator activity, RNA polymerase II-specific; chromatin binding; protein binding;
Cellular component	chromosome; cytosol; chromatin; chromosome, centromeric region; nucleus; nucleoplasm; nuclear body; cohesin complex; nuclear matrix; mitotic spindle pole;
Biological process	chromosome segregation; cell division; cell cycle; transcription by RNA polymerase II; positive regulation of transcription by RNA polymerase II; regulation of mitotic spindle assembly; sister chromatid cohesion;
	Sources:Amigo / QuickGO
Orthologs
	10274
	20842
	ENSG00000118007
	ENSMUSG00000037286
	Q8WVM7
	Q9D3E6
	NM_005862
	NM_009282; NM_001357264; NM_001357265
	NP_005853
	NP_033308; NP_001344193; NP_001344194
	Wikidata
View/Edit Human	View/Edit Mouse

Cohesin subunit SA-1 (SA1) is a protein that in humans is encoded by the STAG1 gene.^[5]^[6] SA1 is a subunit of the Cohesin complex which mediates sister chromatid cohesion, homologous recombination and DNA looping. In somatic cells cohesin is formed of SMC3, SMC1, RAD21 and either SA1 or SA2 whereas in meiosis, cohesin is formed of SMC3, SMC1B, REC8 and SA3. There is a nonprofit community formed for those with a STAG1 Gene mutation at www.stag1gene.org.

Structure

SA1 is one of three human homologues of the yeast protein Scc3 which is a core subunit of the cohesin complex (the three human paralogues are SA1, SA2 and SA3). SA1 and SA2 are expressed in somatic cells whereas SA3 is the main SA paralogue in meiotic cells. In humans, SA2 has been shown to be more abundant than SA1; however, in other cell types, SA1 is the dominant form.^[7]

SA1 stably binds to cohesin via the RAD21 subunit and functions as a platform for other regulatory subunits. The sequences of SA1 and SA2 are 75% conserved. They demonstrate a distinction between the N-terminal region and the C-terminal region.^[8] SA1 has an evident AT-hook at the N-terminal region.^[9]

Function

SA1 has roles in regulating both cohesin loading and release.^[6] SA1 functions specifically in telomere cohesion.^[10]

In mice, SA1 is required for embryonic development and has been shown to be lethal if not expressed.^[11]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000118007 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037286 – 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.
^ Carramolino L, Lee BC, Zaballos A, Peled A, Barthelemy I, Shav-Tal Y, et al. (August 1997). "SA-1, a nuclear protein encoded by one member of a novel gene family: molecular cloning and detection in hemopoietic organs". Gene. 195 (2): 151–159. doi:10.1016/S0378-1119(97)00121-2. PMID 9305759.
^ ^a ^b "Entrez Gene: STAG1 stromal antigen 1".
^ Cuadrado A, Losada A (April 2020). "Specialized functions of cohesins STAG1 and STAG2 in 3D genome architecture". Current Opinion in Genetics & Development. Genome Architecture and Expression. 61: 9–16. doi:10.1016/j.gde.2020.02.024. PMID 32294612. S2CID 215792991.
^ Arruda NL, Carico ZM, Justice M, Liu YF, Zhou J, Stefan HC, Dowen JM (August 2020). "Distinct and overlapping roles of STAG1 and STAG2 in cohesin localization and gene expression in embryonic stem cells". Epigenetics & Chromatin. 13 (1): 32. doi:10.1186/s13072-020-00353-9. PMC 7418333. PMID 32778134.
^ Lin J, Countryman P, Chen H, Pan H, Fan Y, Jiang Y, et al. (July 2016). "Functional interplay between SA1 and TRF1 in telomeric DNA binding and DNA-DNA pairing". Nucleic Acids Research. 44 (13): 6363–6376. doi:10.1093/nar/gkw518. PMC 5291270. PMID 27298259.
^ Canudas S, Smith S (October 2009). "Differential regulation of telomere and centromere cohesion by the Scc3 homologues SA1 and SA2, respectively, in human cells". The Journal of Cell Biology. 187 (2): 165–173. doi:10.1083/jcb.200903096. PMC 2768842. PMID 19822671.
^ Remeseiro S, Cuadrado A, Gómez-López G, Pisano DG, Losada A (May 2012). "A unique role of cohesin-SA1 in gene regulation and development". The EMBO Journal. 31 (9): 2090–2102. doi:10.1038/emboj.2012.60. PMC 3343463. PMID 22415368.

External links

STAG1 human gene location in the UCSC Genome Browser.
STAG1 human gene details in the UCSC Genome Browser.

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000118007 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000037286 – 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.

[pmid9305759-5] Carramolino L, Lee BC, Zaballos A, Peled A, Barthelemy I, Shav-Tal Y, et al. (August 1997). "SA-1, a nuclear protein encoded by one member of a novel gene family: molecular cloning and detection in hemopoietic organs". Gene. 195 (2): 151–159. doi:10.1016/S0378-1119(97)00121-2. PMID 9305759.

[entrez-6] "Entrez Gene: STAG1 stromal antigen 1".

[7] Cuadrado A, Losada A (April 2020). "Specialized functions of cohesins STAG1 and STAG2 in 3D genome architecture". Current Opinion in Genetics & Development. Genome Architecture and Expression. 61: 9–16. doi:10.1016/j.gde.2020.02.024. PMID 32294612. S2CID 215792991.

[8] Arruda NL, Carico ZM, Justice M, Liu YF, Zhou J, Stefan HC, Dowen JM (August 2020). "Distinct and overlapping roles of STAG1 and STAG2 in cohesin localization and gene expression in embryonic stem cells". Epigenetics & Chromatin. 13 (1): 32. doi:10.1186/s13072-020-00353-9. PMC 7418333. PMID 32778134.

[pmid27298259-9] Lin J, Countryman P, Chen H, Pan H, Fan Y, Jiang Y, et al. (July 2016). "Functional interplay between SA1 and TRF1 in telomeric DNA binding and DNA-DNA pairing". Nucleic Acids Research. 44 (13): 6363–6376. doi:10.1093/nar/gkw518. PMC 5291270. PMID 27298259.

[10] Canudas S, Smith S (October 2009). "Differential regulation of telomere and centromere cohesion by the Scc3 homologues SA1 and SA2, respectively, in human cells". The Journal of Cell Biology. 187 (2): 165–173. doi:10.1083/jcb.200903096. PMC 2768842. PMID 19822671.

[11] Remeseiro S, Cuadrado A, Gómez-López G, Pisano DG, Losada A (May 2012). "A unique role of cohesin-SA1 in gene regulation and development". The EMBO Journal. 31 (9): 2090–2102. doi:10.1038/emboj.2012.60. PMC 3343463. PMID 22415368.

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