Aliases for ZMIZ1 Gene
External Ids for ZMIZ1 Gene
Previous HGNC Symbols for ZMIZ1 Gene
Previous GeneCards Identifiers for ZMIZ1 Gene
This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]
GeneCards Summary for ZMIZ1 Gene
ZMIZ1 (Zinc Finger MIZ-Type Containing 1) is a Protein Coding gene. Diseases associated with ZMIZ1 include Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies and Non-Specific Syndromic Intellectual Disability. Among its related pathways are Androgen receptor signaling pathway and Coregulation of Androgen receptor activity. An important paralog of this gene is ZMIZ2.
UniProtKB/Swiss-Prot Summary for ZMIZ1 Gene
Acts as 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).