Homo sapiens Gene: EWSR1
Summary
InnateDB Gene IDBG-3488.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol EWSR1
Gene Name Ewing sarcoma breakpoint region 1
Synonyms bK984G1.4; EWS;
Species Homo sapiens
Ensembl Gene ENSG00000182944
Encoded Proteins
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1
Ewing sarcoma breakpoint region 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a multifunctional protein that is involved in various cellular processes, including gene expression, cell signaling, and RNA processing and transport. The protein includes an N-terminal transcriptional activation domain and a C-terminal RNA-binding domain. Chromosomal translocations between this gene and various genes encoding transcription factors result in the production of chimeric proteins that are involved in tumorigenesis. These chimeric proteins usually consist of the N-terminal transcriptional activation domain of this protein fused to the C-terminal DNA-binding domain of the transcription factor protein. Mutations in this gene, specifically a t(11;22)(q24;q12) translocation, are known to cause Ewing sarcoma as well as neuroectodermal and various other tumors. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1 and 14. [provided by RefSeq, Jul 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:29268009-29300525
Strand Forward strand
Band q12.2
Transcripts
ENST00000331029 ENSP00000330516
ENST00000332035 ENSP00000331699
ENST00000332050 ENSP00000330896
ENST00000333395 ENSP00000327456
ENST00000360091 ENSP00000353204
ENST00000397938 ENSP00000381031
ENST00000406548 ENSP00000385726
ENST00000444626 ENSP00000416171
ENST00000447973 ENSP00000405947
ENST00000436425 ENSP00000406824
ENST00000437155 ENSP00000412670
ENST00000415761 ENSP00000395200
ENST00000414183 ENSP00000400142
ENST00000455726 ENSP00000393637
ENST00000485037
ENST00000483415
ENST00000493426
ENST00000479135
ENST00000469669
ENST00000483629
ENST00000610553
Interactions
Number of Interactions 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]
Protein-Protein 228 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 53 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0005516 calmodulin binding
GO:0008270 zinc ion binding
GO:0042802 identical protein binding
GO:0044822 poly(A) RNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
TGF_beta_Receptor pathway
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
BARD1 signaling events
Cross-References
SwissProt
TrEMBL B0QYJ7
UniProt Splice Variant
Entrez Gene 2130
UniGene Hs.374477
RefSeq NM_001163285 NM_001163286 NM_001163287 NM_005243 NM_013986
HUGO HGNC:3508
OMIM 133450
CCDS CCDS13851 CCDS13852 CCDS54512 CCDS54513 CCDS54514
HPRD 00592
IMGT
EMBL AC000026 AC002059 AL031186
GenPept
RNA Seq Atlas 2130