The protein encoded by this gene is a zinc finger transcription factor that binds to SP1-like sequences in epsilon- and gamma-globin gene promoters. This binding inhibits cell growth and causes apoptosis. Defects in this gene are a cause of maturity-onset diabetes of the young type 7 (MODY7). Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
Function:
Transcription factor. Activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta-globin gene and represses promoters containing SP1-like binding inhibiting cell growth. Represses transcription of SMAD7 which enhances TGF-beta signaling. Induces apoptosis.
Subcellular Location:
Nucleus.
Tissue Specificity:
Ubiquitous. Higher expression in erythroid cells.
DISEASE:
Defects in KLF11 are the cause of maturity-onset diabetes of the young type 7 (MODY7) [MIM:610508]. MODY is a form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Similarity:
Belongs to the Sp1 C2H2-type zinc-finger protein family.
Contains 3 C2H2-type zinc fingers.
SWISS:
O14901
Gene ID:
8462
Database links:
Entrez Gene: 8462 Human
Entrez Gene: 194655 Mouse
Entrez Gene: 313994 Rat
Omim: 603301 Human
SwissProt: O14901 Human
SwissProt: Q8K1S5 Mouse
Unigene: 12229 Human
Unigene: 694968 Human
Unigene: 9616 Mouse
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