信号通路： Type II diabetes mellitus;Maturity onset diabetes of the young;
功能： disease:Defects in PDX1 are a cause of pancreatic agenesis [MIM:260370]. This autosomal recessive disorder is characterized by absence or hypoplasia of pancreas, leading to early-onset insulin-dependent diabetes mellitus. This was found in a frameshift mutation that produces a truncated protein and results in a second initiation that produces a second protein that act as a dominant negative mutant.,disease:Defects in PDX1 are the cause of maturity onset diabetes noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]; also known as diabetes mellitus type II.,disease:Defects in PDX1 are the cause of maturity onset diabetes of the young type 4 (MODY4) [MIM:606392]; also symbolized MODY-4. MODY [MIM:606391] is a form of diabetes mellitus characterized by an autosomal dominant mode of inheritance, age of onset of 25 years or younger and a primary defect in insulin secretion.,domain:The Antp-type hexapeptide mediates heterodimerization with PBX on a regulatory element of the somatostatin promoter.,domain:The homeodomain, which contains the nuclear localization signal, not only mediates DNA-binding, but also acts as a protein-protein interaction domain for TCF3(E47), NEUROD1 and HMG-I(Y).,function:Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development, specifies the early pancreatic epithelium, permitting its proliferation, branching and subsequent differentiation. At adult stage, required for maintaining the hormone-producing phenotype of the beta-cell.,miscellaneous:According to PubMed:16141209, it may be methylated by SETD7 in vitro. However, the relevance of methylation is unsure in vivo.,PTM:Phosphorylated by the SAPK2 pathway at high intracellular glucose concentration.,similarity:Belongs to the Antp homeobox family. IPF1/XlHbox-8 subfamily.,similarity:Contains 1 homeobox DNA-binding domain.,subunit:Interacts with the basic helix-loop-helix domains of TCF3(E47) and NEUROD1 and with HMG-I(Y). Interacts with SPOP (By similarity). Interacts with the methyltransferase SETD7.,tissue specificity:Duodenum and pancreas (Langerhans islet beta cells and small subsets of endocrine non-beta-cells, at low levels in acinar cells).,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus. Cytoplasm, cytosol .
组织表达： Duodenum and pancreas (Langerhans islet beta cells and small subsets of endocrine non-beta-cells, at low levels in acinar cells).
信号通路： Type II diabetes mellitus;Maturity onset diabetes of the young;
功能： disease:Defects in PDX1 are a cause of pancreatic agenesis [MIM:260370]. This autosomal recessive disorder is characterized by absence or hypoplasia of pancreas, leading to early-onset insulin-dependent diabetes mellitus. This was found in a frameshift mutation that produces a truncated protein and results in a second initiation that produces a second protein that act as a dominant negative mutant.,disease:Defects in PDX1 are the cause of maturity onset diabetes noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]; also known as diabetes mellitus type II.,disease:Defects in PDX1 are the cause of maturity onset diabetes of the young type 4 (MODY4) [MIM:606392]; also symbolized MODY-4. MODY [MIM:606391] is a form of diabetes mellitus characterized by an autosomal dominant mode of inheritance, age of onset of 25 years or younger and a primary defect in insulin secretion.,domain:The Antp-type hexapeptide mediates heterodimerization with PBX on a regulatory element of the somatostatin promoter.,domain:The homeodomain, which contains the nuclear localization signal, not only mediates DNA-binding, but also acts as a protein-protein interaction domain for TCF3(E47), NEUROD1 and HMG-I(Y).,function:Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. Binds preferentially the DNA motif 5'-[CT]TAAT[TG]-3'. During development, specifies the early pancreatic epithelium, permitting its proliferation, branching and subsequent differentiation. At adult stage, required for maintaining the hormone-producing phenotype of the beta-cell.,miscellaneous:According to PubMed:16141209, it may be methylated by SETD7 in vitro. However, the relevance of methylation is unsure in vivo.,PTM:Phosphorylated by the SAPK2 pathway at high intracellular glucose concentration.,similarity:Belongs to the Antp homeobox family. IPF1/XlHbox-8 subfamily.,similarity:Contains 1 homeobox DNA-binding domain.,subunit:Interacts with the basic helix-loop-helix domains of TCF3(E47) and NEUROD1 and with HMG-I(Y). Interacts with SPOP (By similarity). Interacts with the methyltransferase SETD7.,tissue specificity:Duodenum and pancreas (Langerhans islet beta cells and small subsets of endocrine non-beta-cells, at low levels in acinar cells).,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus. Cytoplasm, cytosol .
组织表达： Duodenum and pancreas (Langerhans islet beta cells and small subsets of endocrine non-beta-cells, at low levels in acinar cells).
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