NACC1
Function
Functions as a transcriptional repressor. Seems to function as a transcriptional corepressor in neuronal cells through recruitment of HDAC3 and HDAC4. Contributes to tumor progression, and tumor cell proliferation and survival. This may be mediated at least in part through repressing transcriptional activity of GADD45GIP1. Required for recruiting the proteasome from the nucleus to the cytoplasm and dendritic spines.
Involvement in disease
Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination
NECFM
A neurodevelopmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging reveals delayed myelination and cerebral atrophy.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Overexpressed in several types of carcinomas including ovarian serous carcinomas. Expression levels positively correlate with tumor recurrence in ovarian serous carcinomas, and intense immunoreactivity in primary ovarian tumors predicts early recurrence. Up-regulated in ovarian carcinomas after chemotherapy, suggesting a role in development of chemotherapy resistance in ovarian cancer.
Cellular localization
- Nucleus
- Cytoplasm
- Distribution in the cytoplasm is dependent on phosphorylation.
Alternative names
BTBD14B, NAC1, NACC1, Nucleus accumbens-associated protein 1, NAC-1, BTB/POZ domain-containing protein 14B