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Rabbit Anti-SIP1/FITC Conjugated antibody
background:
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 SLCtermini. 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 disease—all symptoms of HSCR.
Function:
Transcriptional inhibitor that binds to DNA sequence 5'-CACCT-3' in different promoters. Represses transcription of E-cadherin.
Subunit:
Binds activated SMAD1, activated SMAD2 and activated SMAD3; binding with SMAD4 is not detected (By similarity). Interacts with CBX4 and CTBP1.
Subcellular Location:
Nucleus.
Post-translational modifications:
Sumoylation on Lys-391 and Lys-866 is promoted by the E3 SUMO-protein ligase CBX4, and impairs interaction with CTBP1 and transcription repression activity.
DISEASE:
Defects in ZEB2 are the cause of Mowat-Wilson syndrome (MWIS) [MIM:235730]; also known as Hirschsprung disease-mental retardation syndrome. A complex developmental disorder characterized by mental retardation, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Some patients manifest Hirschsprung disease. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes.
Similarity:
Belongs to the delta-EF1/ZFH-1 C2H2-type zinc-finger family.
Contains 7 C2H2-type zinc fingers.
Contains 1 homeobox DNA-binding domain.
Database links:
Entrez Gene: 9839 Human
Entrez Gene: 24136 Mouse
Entrez Gene: 311071 Rat
Omim: 605802 Human
SwissProt: O60315 Human
SwissProt: Q9R0G7 Mouse
Unigene: 34871 Human
Unigene: 88702 Mouse
Unigene: 59710 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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