InnateDB Protein
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IDBP-3496.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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EWSR1
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Protein Name
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Ewing sarcoma breakpoint region 1
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Synonyms
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bK984G1.4; EWS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000327456
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InnateDB Gene
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IDBG-3488 (EWSR1)
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Protein Structure
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Function |
Might normally function as a transcriptionnal repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.
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Subcellular Localization |
Nucleus {ECO:0000269PubMed:16965792}. Cytoplasm {ECO:0000269PubMed:16965792}. Cell membrane {ECO:0000269PubMed:16965792}. Note=Relocates from cytoplasm to ribosomes upon PTK2B/FAK2 activation.
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Disease Associations |
Ewing sarcoma (ES) [MIM:612219]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. Chromosomal aberrations involving EWSR1 are found in patients with Ewing sarcoma. Translocation t(11;22)(q24;q12) with FLI1; translocation t(7;22)(p22;q12) with ETV1; translocation t(21;22)(q22;q12) with ERG; translocation t(9;22)(q22-31;q11-12) with NR4A3. Translocation t(2;21;22)(q23;q22;q12) that forms a EWSR1-FEV fusion protein with potential oncogenic activity.Note=A chromosomal aberration involving EWSR1 is associated with desmoplastic small round cell tumor (DSRCT). Translocation t(11;22)(p13;q12) with WT1.Note=A chromosomal aberration involving EWSR1 is associated with malignant melanoma of soft parts (MMSP). Translocation t(12;22)(q13;q12) with ATF-1. Malignant melanoma of soft parts, also known as soft tissue clear cell sarcoma, is a rare tumor developing in tendons and aponeuroses.Note=A chromosomal aberration involving EWSR1 is associated with small round cell sarcoma. Translocation t(11;22)(p36.1;q12) with PATZ1.Angiomatoid fibrous histiocytoma (AFH) [MIM:612160]: A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a lymph node metastasis. Note=The disease may be caused by mutations affecting the gene represented in this entry. Chromosomal aberrations involving EWSR1 are found in patients with angiomatoid fibrous histiocytoma. Translocation t(12;22)(q13;q12) with ATF1 generates a chimeric EWSR1/ATF1 protein. Translocation t(2;22)(q33;q12) with CREB1 generates a EWSR1/CREB1 fusion gene that is most common genetic abnormality in this tumor type.Note=EFPS arise due to chromosomal translocations in which EWSR1 is fused to a variety of cellular transcription factors. EFPS are very potent transcriptional activators dependent on the EAD and a C-terminal DNA-binding domain contributed by the fusion partner. The spectrum of malignancies associated with EFPS are thought to arise via EFP-induced transcriptional deregulation, with the tumor phenotype specified by the EWSR1 fusion partner and cell type. Transcriptional repression of the transforming growth factor beta type II receptor (TGF beta RII) is an important target of the EWS-FLI1, EWS-ERG, or EWS-ETV1 oncogene.
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Tissue Specificity |
Ubiquitous.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 230 experimentally validated interaction(s) in this database.
They are also associated with 53 interaction(s) predicted by orthology.
Experimentally validated |
Total |
230
[view]
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Protein-Protein |
228
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
53 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q01844
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PhosphoSite |
PhosphoSite-Q01844
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
2130
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UniGene |
Hs.374477
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RefSeq |
NP_001156759
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HUGO |
HGNC:3508
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OMIM |
133450
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CCDS |
CCDS54512
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HPRD |
00592
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IMGT |
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EMBL |
AB016435
AC000026
AC002059
AK056309
AK056681
AL031186
BC000527
BC004817
BC011048
BC072442
CH471095
CR456490
X66899
X72990
X72991
X72992
X72993
X72994
X72995
X72996
X72997
X72998
X72999
X73000
X73001
X73002
X73003
X73004
Y07848
Y08806
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GenPept |
AAH00527
AAH04817
AAH11048
AAH72442
BAA31990
BAB71145
BAB71252
CAA47350
CAA51489
CAA69177
CAA70044
CAG30376
CAI18001
CAQ10937
CAQ10938
CAQ10940
EAW59780
EAW59781
EAW59785
EAW59786
EAW59787
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