ZMIZ1
Domain
The SP-RING-type domain mediates interaction with SMAD3 and SMAD4.
The C-terminal proline-rich domain possesses a significant intrinsic transcriptional activity. This activity is inhibited by the N-terminus in the full-length protein.
Function
Acts as a transcriptional coactivator. Increases ligand-dependent transcriptional activity of AR and promotes AR sumoylation. The stimulation of AR activity is dependent upon sumoylation (PubMed:14609956, PubMed:26522984). Also functions as a transcriptional coactivator in the TGF-beta signaling pathway by increasing the activity of the SMAD3/SMAD4 transcriptional complex (PubMed:16777850). Involved in transcriptional activation of a subset of NOTCH1 target genes including MYC. Involved in thymocyte and T cell development (By similarity). Involved in the regulation of postmitotic positioning of pyramidal neurons in the developing cerebral cortex (PubMed:30639322).
Involvement in disease
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
NEDDFSA
An autosomal dominant disorder characterized by intellectual disability, developmental delay, poor language acquisition, behavioral abnormalities, growth failure, feeding difficulties, microcephaly, facial dysmorphism, and mild skeletal anomalies of the hands and feet.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Expressed most abundantly in ovary and, at lower levels, in prostate, spleen and testis. Weak expression, if any, in thymus, small intestine, colon and peripheral blood leukocytes.
Cellular localization
- Nucleus
- Nucleoplasm
- Cytoplasm
- Nucleus
- Enriched at replication foci throughout S phase.
Alternative names
KIAA1224, RAI17, ZIMP10, ZMIZ1, Zinc finger MIZ domain-containing protein 1, PIAS-like protein Zimp10, Retinoic acid-induced protein 17