TSHZ3
Developmental stage
Expressed in peri-urothelial cells of the proximal ureter and renal pelvis at 9 weeks of gestation.
Function
Transcriptional regulator involved in developmental processes. Functions in association with APBB1, SET and HDAC factors as a transcriptional repressor, that inhibits the expression of CASP4. TSHZ3-mediated transcription repression involves the recruitment of histone deacetylases HDAC1 and HDAC2. Associates with chromatin in a region surrounding the CASP4 transcriptional start site(s) (PubMed:19343227). Regulates the development of neurons involved in both respiratory rhythm and airflow control. Promotes maintenance of nucleus ambiguus (nA) motoneurons, which govern upper airway function, and establishes a respiratory rhythm generator (RRG) activity compatible with survival at birth. Involved in the differentiation of the proximal uretic smooth muscle cells during developmental processes. Involved in the up-regulation of myocardin, that directs the expression of smooth muscle cells in the proximal ureter (By similarity). Involved in the modulation of glutamatergic synaptic transmission and long-term synaptic potentiation (By similarity).
Involvement in disease
TSHZ3 haploinsufficiency due to proximal chromosome 19q13.11 deletions causes a neurodevelopmental disorder characterized by developmental delay, absent or delayed speech, intellectual disability, and autistic features. Some patients may have reanal tract abnormalities.
Sequence Similarities
Belongs to the teashirt C2H2-type zinc-finger protein family.
Tissue Specificity
Expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease (PubMed:18776146, PubMed:19343227). Expressed in the fetal neocortex (PubMed:27668656).
Cellular localization
- Nucleus
- Cell projection
- Growth cone
- Colocalizes with APBB1 in axonal growth cone (By similarity). Colocalizes with APBB1 in the nucleus.
Alternative names
KIAA1474, TSH3, ZNF537, TSHZ3, Teashirt homolog 3, Zinc finger protein 537