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NR4A3 (nuclear receptor subfamily 4, group A, member 3)

Identity

Other namesTEC
NR4A3
NOR1
MINOR
CSMF
CHN
HGNC (Hugo) NR4A3
Location 9q22
Location_base_pair Starts at 101623958 and ends at 101668994 bp from pter ( according to hg18-Mar_2006)  [Mapping]

DNA/RNA

Description spans about 46 kb; 9 exons
Transcription four transcript variants (6382 bp, 5635 bp, 4983bp and 2588 bp)

Protein

Description three isoforms (637 aa, 626 aa and 443 aa); N-terminal activation domain; central bipartite zinc finger DNA-binding domain; C-terminal ligand binding domain.
Expression most tissues, highest expression levels in the central nervous system.
Localisation nuclear
Function orphan nuclear receptor; implicated in the control of cell proliferation as an immediate-early protein and in differentiation and apoptosis; binds as a monomer to the DNA-response element NBRE; activate transcription constitutively when bound to NBRE; the homeotic protein Six3 is a coactivator of TEC.
Homology belongs to the steroid/thyroid receptor gene super family; highly homologous to the nuclear receptors NGFI-B and NURR1.

Implicated in

Entity Extraskeletal myxoid chondrosarcoma with t(9;22)(q22;q12).
Disease rare type of sarcoma (2.3% of all soft tissue sarcomas) characteristically involving the deep, soft tissues of the extremities; morphological resemblance to embryonic cartilage.
Hybrid/Mutated Gene EWSR1-TEC
Abnormal Protein N-terminal transactivation domain of EWSR1 fused to the entire TEC protein.
  
Entity Extraskeletal myxoid chondrosarcoma with t(9;17)(q22;q11).
Disease rare type of sarcoma (2.3% of all soft tissue sarcomas) characteristically involving the deep, soft tissues of the extremities; morphological resemblance to embryonic cartilage.
Hybrid/Mutated Gene TAF2N-TEC
Abnormal Protein N-terminal transactivation domain of TAF2N fused to the entire TEC protein.
  
Entity Extraskeletal myxoid chondrosarcoma with t(9;15)(q22;q21).
Disease rare type of sarcoma (2.3% of all soft tissue sarcomas) characteristically involving the deep, soft tissues of the extremities; morphological resemblance to embryonic cartilage.
Hybrid/Mutated Gene TCF12-TEC
Abnormal Protein N-terminal domain of TCF12 fused to the entire TEC protein; the N-terminal of TCF12 shows no sequence homology to the N-terminals of EWSR1 or TAF2N.
  

Breakpoints

 

External links

Nomenclature
HGNC (Hugo)NR4A3   7982
Entrez_Gene (NCBI)NR4A3  8013  nuclear receptor subfamily 4, group A, member 3
Cards
AtlasTECID75
GeneCards (Weizmann)NR4A3
Ensembl (Hinxton)ENSG00000119508 [Gene_View]  NR4A3 [Vega]
AceView (NCBI)NR4A3
Genatlas (Paris)NR4A3
euGene (Indiana)8013
SOURCE (Stanford)NM_006981 NM_173198 NM_173199 NM_173200
Gene Expression (Array Express) ENSG00000119508
Genomic and cartography
GoldenPath (UCSC)NR4A3  -  9q22   chr9:101623958-101668994 +  9q22   [Description]    (hg18-Mar_2006)
EnsemblNR4A3 - 9q22 [CytoView]
Mapping of homologs : NCBINR4A3 [Mapview]
OMIM600542   612237   
Gene and transcription
Gene : Genbank (Entrez)AK226108 BX649089 D78579 D85241 D85242
Reference sequence (RefSeq transcript) :SRSNM_006981 NM_173198 NM_173199 NM_173200
Reference transcript : EntrezNM_006981 NM_173198 NM_173199 NM_173200
RefSeq genomic : SRSAC_000052 AC_000141 NC_000009 NT_008470 NW_001839236 NW_924539
RefSeq genomic : EntrezAC_000052 AC_000141 NC_000009 NT_008470 NW_001839236 NW_924539
Consensus coding sequences : CCDS NCBINR4A3
Cluster EST : UnigeneHs.279522 [ SRS ] Hs.279522 [ NCBI ]
Alternative Splicing : Fast-db (Paris)11913
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ92570 (SRS) Q92570 (Expasy) Q92570 (Uniprot)
With graphics : InterProQ92570
Splice isoforms : VarSplice FASTAQ92570(VarSplice FASTA)
Domaine pattern : Prosite (SRS)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domain pattern : Prosite (Expaxy)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domains : Interpro (SRS)NOR1_rcpt    Nuc_orph_rcpt    Nucl_hormone_rcpt_ligand-bd    Nucl_hrmn_rcpt_lig-bd_core    Str_hrmn_rcpt    Znf_hrmn_rcpt    Znf_NHR/GATA   
Domains : Interpro (EBI)NOR1_rcpt    Nuc_orph_rcpt    Nucl_hormone_rcpt_ligand-bd    Nucl_hrmn_rcpt_lig-bd_core    Str_hrmn_rcpt    Znf_hrmn_rcpt    Znf_NHR/GATA   
Related proteins : CluSTrQ92570
Domain families : Pfam SRSHormone_recep (PF00104)    zf-C4 (PF00105)   
Domain families : Pfam SangerHormone_recep (PF00104)    zf-C4 (PF00105)   
Domain families : Pfam NCBIpfam00104    pfam00105   
Domain families : Smart EMBLHOLI (SM00430)  ZnF_C4 (SM00399)  
Blocks (Seattle)Q92570
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD02766
Protein Interaction databases
DIP (DOE-UCLA)Q92570
IntAct (EBI)Q92570
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBINR4A3
SNP : GeneSNP UtahNR4A3
SNP : HGBaseNR4A3
Genetic variants : HAPMAPNR4A3
Somatic Mutations in Cancer : COSMICNR4A3 
Rearrangement : COSMICEWSR1 22q12.2  -  NR4A3 9q31.1
Rearrangement : COSMICNR4A3 9q31.1  -  EWSR1 22q12.2
Translocation Breakpoints in Cancer : TICdbNR4A3 
Mutations and Diseases : HGMDNR4A3
Hereditary diseases : OMIM600542    612237   
Hereditary diseases : GENETests600542    612237   
Diseases : Genetic AssociationNR4A3
General knowledge
Homologs : HomoloGeneNR4A3
Homology/Alignments : Family Browser UCSCNR4A3
Phylogenetic Trees/Animal Genes : TreeFamNR4A3
Chemical/Protein Interactions : CTD8013
Keywords Ontology : AmiGOmesoderm formation  transcription factor activity  steroid hormone receptor activity  thyroid hormone receptor activity  binding  nucleus  regulation of transcription, DNA-dependent  biological_process  zinc ion binding  transcription activator activity  adult behavior  organ regeneration  response to peptide hormone stimulus  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  semicircular canal morphogenesis  neuromuscular process controlling balance  vestibular reflex  
Keywords Ontology : EGO-EBImesoderm formation  transcription factor activity  steroid hormone receptor activity  thyroid hormone receptor activity  binding  nucleus  regulation of transcription, DNA-dependent  biological_process  zinc ion binding  transcription activator activity  adult behavior  organ regeneration  response to peptide hormone stimulus  sequence-specific DNA binding  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  semicircular canal morphogenesis  neuromuscular process controlling balance  vestibular reflex  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesNR4A3 Related clones (RZPD - Berlin)
Literature
PubMed29 Pubmed reference(s) in Entrez
PubGeneNR4A3

Bibliography

Molecular cloning of a novel thyroid/steroid receptor superfamily gene from cultured rat neuronal cells.
Ohkura N, Hijikuro M, Yamamoto A, Miki K
Biochemical and biophysical research communications. 1994 ; 205 (3) : 1959-1965.
PMID 7811288
 
The isolation and characterization of MINOR, a novel mitogen-inducible nuclear orphan receptor.
Hedvat CV, Irving SG
Molecular endocrinology (Baltimore, Md.). 1995 ; 9 (12) : 1692-1700.
PMID 8614405
 
Oncogenic conversion of a novel orphan nuclear receptor by chromosome translocation.
Labelle Y, Zucman J, Stenman G, Kindblom LG, Knight J, Turc-Carel C, Dockhorn-Dworniczak B, Mandahl N, Desmaze C, Peter M
Human molecular genetics. 1995 ; 4 (12) : 2219-2226.
PMID 8634690
 
Fusion of the EWS gene to CHN, a member of the steroid/thyroid receptor gene superfamily, in a human myxoid chondrosarcoma.
Clark J, Benjamin H, Gill S, Sidhar S, Goodwin G, Crew J, Gusterson BA, Shipley J, Cooper CS
Oncogene. 1996 ; 12 (2) : 229-235.
PMID 8570200
 
Identification of a novel fusion gene involving hTAFII68 and CHN from a t(9;17)(q22;q11.2) translocation in an extraskeletal myxoid chondrosarcoma.
Attwooll C, Tariq M, Harris M, Coyne JD, Telford N, Varley JM
Oncogene. 1999 ; 18 (52) : 7599-7601.
PMID 10602520
 
The EWS/TEC fusion protein encoded by the t(9;22) chromosomal translocation in human chondrosarcomas is a highly potent transcriptional activator.
Labelle Y, BussiˆŪres J, Courjal F, Goldring MB
Oncogene. 1999 ; 18 (21) : 3303-3308.
PMID 10359536
 
Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma.
Sjˆgren H, Meis-Kindblom J, Kindblom LG, Aman P, Stenman G
Cancer research. 1999 ; 59 (20) : 5064-5067.
PMID 10537274
 
Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21).
Sjˆgren H, Wedell B, Meis-Kindblom JM, Kindblom LG, Stenman G
Cancer research. 2000 ; 60 (24) : 6832-6835.
PMID 11156374
 
The AF2 domain of the orphan nuclear receptor TEC is essential for the transcriptional activity of the oncogenic fusion protein EWS/TEC.
Maltais A, Filion C, Labelle Y
Cancer letters. 2002 ; 183 (1) : 87-94.
PMID 12049818
 
The EWS/NOR1 fusion gene product gains a novel activity affecting pre-mRNA splicing.
Ohkura N, Yaguchi H, Tsukada T, Yamaguchi K
The Journal of biological chemistry. 2002 ; 277 (1) : 535-543.
PMID 11673470
 
The homeotic protein Six3 is a coactivator of the nuclear receptor NOR-1 and a corepressor of the fusion protein EWS/NOR-1 in human extraskeletal myxoid chondrosarcomas.
Laflamme C, Filion C, Bridge JA, Ladanyi M, Goldring MB, Labelle Y
Cancer research. 2003 ; 63 (2) : 449-454.
PMID 12543801
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written07-2003Goran Stenman

Citation

This paper should be referenced as such :
Stenman G . NR4A3 (nuclear receptor subfamily 4, group A, member 3). Atlas Genet Cytogenet Oncol Haematol. July 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/TECID75.html

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indexed on : Sat Feb 6 13:44:34 CET 2010
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