SALL4: a transcription factor and oncofetal protein expressed embryonically and in the testis. Plays a key role in maintenance and self-renewal of embryonic stem cells. Interacts with NANOG and OCT4. Ectopically expressed in acute B-cell lymphoblastic leukemia (B-ALL) and myeloid leukemia (AML), playing a role in the survival of B-ALL cells and in myeloid leukemogenesis. Aberrantly expressed in multiple carcinomas including human gastric carcinoma and hepatocellular carcinoma. Maintains the stem cell qualities of EpCAM-positive hepatocellular carcinoma cells. Expressed in primary human endometrial cancer samples but not normal or hyperplastic endometrial cells. Its expression in carcinomas positively correlates with metastatic potential and poor patient survival. Specifically binds the c-Myc promoter region in endometrial cancer cells, apparently increasing c-Myc expression. Belongs to the sal C2H2-type zinc-finger protein family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA-binding; C2H2-type zinc finger protein; Cancer Testis Antigen (CTA)
Chromosomal Location of Human Ortholog: 20q13.2
Cellular Component: cytoplasm; heterochromatin; intracellular membrane-bound organelle; nucleoplasm; nucleus; protein complex
Molecular Function: metal ion binding; protein binding; sequence-specific DNA binding; transcription factor activity
Biological Process: embryonic limb morphogenesis; inner cell mass cell proliferation; multicellular organismal development; negative regulation of transcription from RNA polymerase II promoter; neural tube closure; positive regulation of transcription from RNA polymerase II promoter; regulation of transcription, DNA-dependent; signal transduction; somatic stem cell maintenance; transcription from RNA polymerase II promoter
Disease: Duane-radial Ray Syndrome; Ivic Syndrome
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