Description
Product Characteristics:
SMAD regulates gene expression by interacting with different classes of transcription factors including DNA-binding multi-zinc finger proteins. SIP1, for SMAD interacting protein 1, is a member of the delta-EF1/Zfh1 family of 2-handed zinc finger/homeodomain proteins. SIP1 contains a SMAD-binding domain, a homeodomain and two clusters of zinc fingers on the N- and C-termini. SIP1, also known as SMADIP1, ZFHX1B and ZEB2 (zinc finger E-box-binding protein 2), can be induced by TGF treatment. SIP1 plays a crucial role in normal embryonic development of neural structures and the neural crest. The human SIP1 gene maps to chromosome 2q22. Mutations in the SIP1 gene cause a form of Hirschsprung disease (HSCR). Patients with SIP1 mutations show mental retardation, delayed motor development, epilepsy, microcephaly, distinct facial features and/or congenital heart diseaseall symptoms of HSCR.
Subcellular location: Nucleus
Synonyms: Smad Interacting Protein 1 SIP 1, SIP1 SIP-1, Smad-interacting protein 1, SMADIP 1, SMADIP1, ZEB 2, ZEB2, ZEB2_HUMAN, Zfhx1b, ZFHX1B protein, Zfx1b, Zinc finger E box binding protein 2, Zinc finger E-box-binding homeobox 2, Zinc finger homeobox 1b, zinc finger homeobox protein 1, Zinc finger homeobox protein 1b.
Target Information: The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]