background:
Smad Interacting Protein 1 (SIP1) is observed in neural crest derived cells (peripheric nervous system, enteric nervous system, facial neurectoderm and cranial nerve ganglia), central nervous system, genital tubercle, muscles and kidneys in the developing human. SIP1 belongs to the delta-EF1/Zfh1 family of 2-handed zinc finger/homeodomain proteins and contains a SMAD-binding domain, a homeodomain and two clusters of zinc fingers on the N- and SLCtermini. SIP1 can be induced by TGF. SIP1 plays a crucial role in normal embryonic development of neural structures and the neural crest. 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. SIP1 is also involved in the regulation of epithelial to mesenchymal transition, an important process in tumor progression.
Function:
The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing in the nucleus.
Subunit:
Part of the core SMN complex that contains SMN1, GEMIN2/SIP1, DDX20/GEMIN3, GEMIN4, GEMIN5, GEMIN6, GEMIN7, GEMIN8 and STRAP/UNRIP. Interacts directly with GEMIN5.
Subcellular Location:
Nucleus, gem. Cytoplasm. Note=Localized in subnuclear structures next to coiled bodies, called gems, which are highly enriched in spliceosomal snRNPs. Also found in the cytoplasm.
Similarity:
Belongs to the gemin-2 family.
Database links:
Entrez Gene: 8487 Human
Entrez Gene: 66603 Mouse
Omim: 602595 Human
SwissProt: O14893 Human
SwissProt: Q9CQQ4 Mouse
SwissProt: O42260 Xenopus laevis
Unigene: 652307 Human
Unigene: 35353 Mouse
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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