UniProt Protein Function: | 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; OncoproteinChromosomal Location of Human Ortholog: 9q22Cellular Component: nucleoplasmMolecular Function: protein binding; protein homodimerization activity; protein kinase binding; thyroid hormone receptor activityBiological Process: cellular respiration; fat cell differentiation; gastrulation; mast cell degranulation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of epithelial cell proliferation; positive regulation of fatty acid oxidation; positive regulation of mast cell cytokine production; positive regulation of smooth muscle cell proliferation; positive regulation of transcription from RNA polymerase II promoter; pyruvate oxidation; regulation of smooth muscle cell proliferation; transcription initiation from RNA polymerase II promoterDisease: Chondrosarcoma, Extraskeletal Myxoid |
UniProt Protein Details: | |
NCBI Summary: | 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] |
UniProt Code: | Q92570 |
NCBI GenInfo Identifier: | 90110039 |
NCBI Gene ID: | 8013 |
NCBI Accession: | Q92570.3 |
UniProt Secondary Accession: | Q92570,Q12935, Q14979, Q16420, Q4VXA8, Q4VXA9, Q9UEK2 Q9UEK3, A2A3I7 |
UniProt Related Accession: | Q92570 |
Molecular Weight: | 69,502 Da |
NCBI Full Name: | Nuclear receptor subfamily 4 group A member 3 |
NCBI Synonym Full Names: | nuclear receptor subfamily 4 group A member 3 |
NCBI Official Symbol: | NR4A3 |
NCBI Official Synonym Symbols: | CHN; TEC; CSMF; NOR1; MINOR |
NCBI Protein Information: | nuclear receptor subfamily 4 group A member 3 |
UniProt Protein Name: | Nuclear receptor subfamily 4 group A member 3 |
UniProt Synonym Protein Names: | Mitogen-induced nuclear orphan receptor; Neuron-derived orphan receptor 1; Nuclear hormone receptor NOR-1 |
Protein Family: | Nuclear receptor subfamily |
UniProt Gene Name: | NR4A3 |
UniProt Entry Name: | NR4A3_HUMAN |