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.
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.
