EWSR1 (EWS RNA binding protein 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2130
Gene name Gene Name - the full gene name approved by the HGNC.
EWS RNA binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EWSR1
Synonyms (NCBI Gene) Gene synonyms aliases
EWS, EWS-FLI1
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q12.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(73)
miRTarBase ID miRNA Experiments Reference
MIRT006152 hsa-let-7a-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21853155
MIRT006152 hsa-let-7a-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21853155
MIRT006152 hsa-let-7a-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21853155
MIRT006152 hsa-let-7a-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21853155
MIRT006152 hsa-let-7a-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blot 21853155
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0003712 Function Transcription coregulator activity IBA 21873635
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA 21873635
GO:0005515 Function Protein binding IPI 16189514, 16713569, 18320585, 18347058, 18509338, 21988832, 23455924, 23975937, 25416956, 25910212, 29892012, 31515488, 32814053
GO:0005516 Function Calmodulin binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
133450 3508 ENSG00000182944
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q01844
Protein name RNA-binding protein EWS (EWS oncogene) (Ewing sarcoma breakpoint region 1 protein)
Protein function Binds to ssRNA containing the consensus sequence 5'-AGGUAA-3' (PubMed:21256132). Might normally function as a transcriptional repressor (PubMed:10767297). EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb ge
PDB 2CPE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00076 RRM_1 363 → 441 RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) Domain
PF00641 zf-RanBP 518 → 549 Zn-finger in Ran binding protein and others Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence 
MASTDYSTYSQAAAQQGYSAYTAQPTQGYAQTTQAYGQQSYGTYGQPTDVSYTQAQTTAT
YGQTAYATSYGQPPTGYTTPTAPQAYSQPVQGYGTGAYDTTTATVTTTQASYAAQSAYGT
QPAYPAYGQQPAATAPTRPQDGNKPTETSQPQSSTGGYNQPSLGYGQSNYSYPQVPGSYP
MQPVTAPPSYPPTSYSSTQPTSYDQSSYSQQNTYGQPSSYGQQSSYGQQSSYGQQPPTSY
PPQTGSYSQAPSQYSQQSSSYGQQSSFRQDHPSSMGVYGQESGGFSGPGENRSMSGPDNR
GRGRGGFDRGGMSRGGRGGGRGGMGSAGERGGFNKPGGPMDEGPDLDLGPPVDPDEDSDN
SAIYVQGLNDSVTLDDLADFFKQCGVVKMNKRTGQPMIHIYLDKETGKPKGDATVSYEDP
PTAKAAVEWFDGKDFQGSKLKVSLARKKPPMNSMRGGLPPREGRGMPPPLRGGPGGPGGP
GGPMGRMGGRGGDRGGFPPRGPRGSRGNPSGGGNVQHRAGDWQCPNPGCGNQNFAWRTEC
NQCKAPKPEGFLPPPFPPPGGDRGRGGPGGMRGGRGGLMDRGGPGGMFRGGRGGDRGGFR
GGRGMDRGGFGGGRRGGPGGPPGPLMEQMGGRRGGRGGPGKMDKGEHRQERRDRPY
Sequence length 656
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Transcriptional misregulation in cancer  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)		 22454397
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Melanoma Melanoma of soft tissue rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340
View all (64 more)
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 27783944
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Desmoplastic tumor Desmoplastic Small Round Cell Tumor ClinVar
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Show/Hide Text Mining Associations (131)
Associations from Text Mining
Disease Name Relationship Type References
3C syndrome Associate 35165059
Abdominal Injuries Associate 33028642
Acrospiroma Associate 18338330
Adenocarcinoma Associate 25870707, 25914746
Alzheimer Disease Associate 28630030
Amyotrophic Lateral Sclerosis Associate 26573619, 31171724, 37722062
Aneuploidy Associate 33293370
Aneuploidy Stimulate 33293370
Angiofibroma Associate 37680034
Basal Ganglia Diseases Associate 33012788