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SOX 17 OKDB#: 1429
 Symbols: SOX 17 Species: human
 Synonyms:  Locus:


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General Comment The SRY (OMIM 480000) and SOX proteins share a DNA-binding domain known as the HMG box, defined by a 79-amino acid region. All SOX proteins have a single HMG box and bind linear DNA in a sequence-specific manner, resulting in the bending of DNA through large angles. Bending causes the DNA helix to open for some distance, which may affect binding and interactions of other transcription factors. Katoh M. 2002 reported the molecular cloning and characterization of human SOX17. SOX proteins are a family of transcription factors with high-mobility-group DNA-binding domain (HMG box) homologous to SRY, which are implicated in embryogenesis. Xenopus Sox17alpha, Sox17beta, and Sox3 are reported to negatively modulate the WNT - beta-catenin - TCF signaling pathway. Here, human SOX17 gene fragments were identified in human genome draft sequences by using bioinformatics, and SOX17 cDNAs were isolated by using cDNA-PCR. Human SOX17 was found to encode a 414-amino-acid protein with a HMG box, which was homologous to SOX18 and SOX7. SOX17 gene, consisting of 2 exons, was located in human chromosome 8q12-q13 region. SOX17 mRNAs of 2.5- and 2.2-kb in size were detected in adult heart, lung, spleen, testis, ovary, placenta, fetal lung, and kidney. In normal gastrointestinal tract, SOX17 mRNA was preferentially expressed in esophagus, stomach and small intestine than in colon and rectum. SOX17 mRNA was almost undetectable in human cancer cell lines HL-60, HeLa S3, K-562, MOLT-4, Raji, SW480, A549, G-361, and also in 66 cases of human primary tumors derived from various tissues, except one case of primary cervical cancer. This is the first report on molecular cloning and characterization of human SOX17.

General function DNA binding
Comment
Cellular localization Nuclear
Comment
Ovarian function
Comment
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
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created: Feb. 2, 2002, 7:08 a.m. by: hsueh   email:
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last update: Feb. 2, 2002, 7:08 a.m. by: system    email:



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