Gene Gene information from NCBI Gene database.
Entrez ID 2130
Gene name EWS RNA binding protein 1
Gene symbol EWSR1
Synonyms (NCBI Gene)
EWSEWS-FLI1
Chromosome 22
Chromosome location 22q12.2
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
miRNA miRNA information provided by mirtarbase database.
73
miRTarBase ID miRNA Experiments Reference
MIRT006152 hsa-let-7a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21853155
MIRT006152 hsa-let-7a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21853155
MIRT006152 hsa-let-7a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21853155
MIRT006152 hsa-let-7a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21853155
MIRT006152 hsa-let-7a-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 21853155
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0003676 Function Nucleic acid binding IEA
GO:0003712 Function Transcription coregulator activity IBA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IBA
GO:0003723 Function RNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
133450 3508 ENSG00000182944
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
PTAKAAVEWFDGKDFQGSKLK
VSLARKKPPMNSMRGGLPPREGRGMPPPLRGGPGGPGGP
GGPMGRMGGRGGDRGGFPPRGPRGSRGNPSGGGNVQHRAGDWQCPNPGCGNQNFAWRTEC
NQCKAPKPE
GFLPPPFPPPGGDRGRGGPGGMRGGRGGLMDRGGPGGMFRGGRGGDRGGFR
GGRGMDRGGFGGGRRGGPGGPPGPLMEQMGGRRGGRGGPGKMDKGEHRQERRDRPY
Sequence length 656
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Transcriptional misregulation in cancer  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
21
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs41309649, rs189387468 RCV005929671
RCV005907876
Amyotrophic lateral sclerosis Conflicting classifications of pathogenicity; Uncertain significance rs41311143, rs2061187258 RCV001260202
RCV001260201
Cholangiocarcinoma Benign rs41309649 RCV005929677
Ewing sarcoma Benign rs189387468 RCV001199247
Associations from Text MiningDisease associations identified through Pubtator
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