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Visar inlägg med etikett ZBED1. Visa alla inlägg
Visar inlägg med etikett ZBED1. Visa alla inlägg

torsdag 29 oktober 2026

ZBED1 sinkkisormiproeiinista

 https://www.genecards.org/card/ZBED1

GeneCards Summary

ZBED1 encodes a DNA-binding transcriptional activator located in the pseudoautosomal region 1 of the X and Y chromosomes. It was first identified for similarity to Ac transposable elements, but it lacks transposase activity and instead functions in the nucleus. As a zinc finger BED-type factor, it is part of the transcriptional machinery that links promoter recognition to gene activation.

ZBED1 binds promoter elements in ribosomal protein genes, including RPS6 and RPL10A, and also binds promoter regions of genes related to cell proliferation such as histone H1. It functions as an E3 SUMO ligase that sumoylates CHD3, causing its dissociation from chromatin. This alleviates transcriptional repression, enhances RNA polymerase II recruitment, and drives expression of growth-related genes. The protein localizes to the nucleus, PML body, nucleoplasm, and centrosome, and expression is high in the female reproductive system with substantial RNA and protein expression in muscle, adipose, endocrine, hematopoietic, and male reproductive tissues.

Clinical links for ZBED1 are limited in the provided evidence, but its activity is tied to transcriptional control of growth-related genes and cell proliferation. No specific diseases or named therapeutic agents are described here.

Also known as
  • ALTE
  • TRAMP
  • HDREF
  • DREF
  • KIAA0785
  • (and 8 more)
Genomic Variants
8 clinically significant variants and 19 structural variants
Pathways
4 pathways including in the categories Metabolism of proteins
Interactions
167 protein interactions
Publications
2 review publications and 66 publications