NOR-1 Antibody – Rabbit Polyclonal

This gene encodes a member of the steroid-thyroid hormone-retinoid receptor superfamily. The encoded protein may act as a transcriptional activator. The protein can efficiently bind the NGFI-B Response Element (NBRE). Three different versions of extraskeletal myxoid chondrosarcomas (EMCs) are the result of reciprocal translocations between this gene and other genes. The translocation breakpoints are associated with Nuclear Receptor Subfamily 4, Group A, Member 3 (on chromosome 9) and either Ewing Sarcome Breakpoint Region 1 (on chromosome 22), RNA Polymerase II, TATA Box-Binding Protein-Associated Factor, 68-KD (on chromosome 17), or Transcription factor 12 (on chromosome 15). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

NR4A3: Binds to the B1A response-element. Defects in NR4A3 are a cause of Ewing sarcoma (ES). A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. A chromosomal aberration involving NR4A3 is found in patients with Erwing sarcoma. Translocation t(9;22)(q22-31;q11-12) with EWSR1. A chromosomal aberration involving NR4A3 is a cause of a form of extraskeletal myxoid chondrosarcomas (EMC). Translocation t(9;17)(q22;q11) with TAF2N. Belongs to the nuclear hormone receptor family. NR4 subfamily. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Nuclear receptor; DNA-binding; Oncoprotein

Chromosomal Location of Human Ortholog: 9q22

Cellular Component: nucleoplasm; transcription factor complex; nucleus

Molecular Function: protein binding; DNA binding; zinc ion binding; sequence-specific DNA binding; steroid hormone receptor activity; thyroid hormone receptor activity

Biological Process: axon guidance; response to peptide hormone stimulus; transcription initiation from RNA polymerase II promoter; organ regeneration; intracellular receptor-mediated signaling pathway; hippocampus development; semicircular canal morphogenesis; positive regulation of cell cycle; mesoderm formation; response to hydrogen peroxide; vestibular reflex; adult behavior; positive regulation of transcription from RNA polymerase II promoter; steroid hormone mediated signaling; gene expression; negative regulation of neuron apoptosis; neuromuscular process controlling balance

Disease: Chondrosarcoma, Extraskeletal Myxoid