Expression of SALL1

Stable Identifier
R-HSA-452958
Type
Reaction [omitted]
Species
Homo sapiens
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The SALL1 gene is transcribed to yield mRNA and the mRNA is translated to yield protein. SALL1 mRNA and protein are expressed in pituitary, adrenal cortex and the placenta in addition to kidney, testicular, and ovarian cells (Ma et al 2002, Chai et al. 2006). Mutations in SALL1 cause Townes-Brocks syndrome. The protein localizes to pericentric heterochromatin (Netzer et al. 2001). POU5F1 (OCT4), SOX2, and NANOG bind the promoter of the SALL1 gene and enhance transcription (Boyer et al. 2005, Fong et al. 2008). SOX2 binds a site in the SALL1 promoter adjacent to the site bound by POU5F1 (Boyer et al. 2005). SALL4 binds the promoter of the SALL1 gene and represses transcription by associating with Mi-2 (NuRD) repressor complex (Lu et al. 2009, Yang et al. 2010).

Literature References
PubMed ID Title Journal Year
16153702 Core transcriptional regulatory circuitry in human embryonic stem cells

Boyer, LA, Lee, TI, Cole, MF, Johnstone, SE, Levine, SS, Zucker, JP, Guenther, MG, Kumar, RM, Murray, HL, Jenner, RG, Gifford, DK, Melton, DA, Jaenisch, R, Young, RA

Cell 2005
16670092 Transcriptional activation of the SALL1 by the human SIX1 homeodomain during kidney development

Chai, L, Yang, J, Di, C, Cui, W, Kawakami, K, Lai, R, Ma, Y

J Biol Chem 2006
19696931 Expression of stem cell markers in the human fetal kidney

Metsuyanim, S, Harari-Steinberg, O, Buzhor, E, Omer, D, Pode-Shakked, N, Ben-Hur, H, Halperin, R, Schneider, D, Dekel, B

PLoS One 2009
11751684 SALL1, the gene mutated in Townes-Brocks syndrome, encodes a transcriptional repressor which interacts with TRF1/PIN2 and localizes to pericentromeric heterochromatin

Netzer, C, Rieger, L, Brero, A, Zhang, CD, Hinzke, M, Kohlhase, J, Bohlander, SK

Hum Mol Genet 2001
20505821 A novel SALL4/OCT4 transcriptional feedback network for pluripotency of embryonic stem cells

Yang, J, Gao, C, Chai, L, Ma, Y

PLoS One 2010
19440552 Stem cell factor SALL4 represses the transcriptions of PTEN and SALL1 through an epigenetic repressor complex

Lu, J, Jeong, HW, Kong, N, Yang, Y, Carroll, J, Luo, HR, Silberstein, LE, Yupoma, LE, Chai, L

PLoS One 2009
18388306 Regulation of self-renewal and pluripotency by Sox2 in human embryonic stem cells

Fong, H, Hohenstein, KA, Donovan, PJ

Stem Cells 2008
12065233 SALL1 expression in the human pituitary-adrenal/gonadal axis

Ma, Y, Chai, L, Cortez, SC, Stopa, EG, Steinhoff, MM, Ford, D, Morgan, J, Maizel, AL

J Endocrinol 2002
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