Uniprot ID: Q01844	Protein name : RNA-binding protein EWS	Gene : EWSR1 EWS
Protein Families : RRM TET family	Squence Length : 656

Sequence	>Q01844 657 MASTDYSTYSQAAAQQGYSAYTAQPTQGYAQTTQAYGQQSYGTYGQPTDVSYTQAQTTATYGQTAYATSYGQPPTGYTTPTAPQAYSQPVQGYGTGAYDTTTATVTTTQASYAAQSAYGTQPAYPAYGQQPAATAPTRPQDGNKPTETSQPQSSTGGYNQPSLGYGQSNYSYPQVPGSYPMQPVTAPPSYPPTSYSSTQPTSYDQSSYSQQNTYGQPSSYGQQSSYGQQSSYGQQPPTSYPPQTGSYSQAPSQYSQQSSSYGQQSSFRQDHPSSMGVYGQESGGFSGPGENRSMSGPDNRGRGRGGFDRGGMSRGGRGGGRGGMGSAGERGGFNKPGGPMDEGPDLDLGPPVDPDEDSDNSAIYVQGLNDSVTLDDLADFFKQCGVVKMNKRTGQPMIHIYLDKETGKPKGDATVSYEDPPTAKAAVEWFDGKDFQGSKLKVSLARKKPPMNSMRGGLPPREGRGMPPPLRGGPGGPGGPGGPMGRMGGRGGDRGGFPPRGPRGSRGNPSGGGNVQHRAGDWQCPNPGCGNQNFAWRTECNQCKAPKPEGFLPPPFPPPGGDRGRGGPGGMRGGRGGLMDRGGPGGMFRGGRGGDRGGFRGGRGMDRGGFGGGRRGGPGGPPGPLMEQMGGRRGGRGGPGKMDKGEHRQERRDRPY
Repeat regions	REPEAT 8 16 1 REPEAT 17 27 2 REPEAT 28 34 3 REPEAT 35 42 4 REPEAT 43 50 5 REPEAT 51 59 6 REPEAT 60 68 7 REPEAT 69 75 8 REPEAT 76 84 9 REPEAT 85 91 10 REPEAT 92 110 11 REPEAT 111 116 12 REPEAT 117 125 13 REPEAT 126 156 14 REPEAT 157 163 15 REPEAT 164 170 16 REPEAT 171 177 17 REPEAT 178 188 18 REPEAT 189 193 19 REPEAT 194 201 20 REPEAT 202 206 21 REPEAT 207 212 22 REPEAT 213 218 23 REPEAT 219 224 24 REPEAT 225 230 25 REPEAT 231 238 26 REPEAT 239 245 27 REPEAT 246 252 28 REPEAT 253 259 29 REPEAT 260 276 30 REPEAT 277 285 31
Sequence region of repeats	8- 16 SQAAAQQGY 17- 27 SAYTAQPTQGY 28- 34 AQTTQAY 35- 42 GQQSYGTY 43- 50 GQPTDVSY 51- 59 TQAQTTATY 60- 68 GQTAYATSY 69- 75 GQPPTGY 76- 84 TTPTAPQAY 85- 91 SQPVQGY 92- 110 GTGAYDTTTATVTTTQASY 111- 116 AAQSAY 117- 125 GTQPAYPAY 126- 156 GQQPAATAPTRPQDGNKPTETSQPQSSTGGY 157- 163 NQPSLGY 164- 170 GQSNYSY 171- 177 PQVPGSY 178- 188 PMQPVTAPPSY 189- 193 PPTSY 194- 201 SSTQPTSY 202- 206 DQSSY 207- 212 SQQNTY 213- 218 GQPSSY 219- 224 GQQSSY 225- 230 GQQSSY 231- 238 GQQPPTSY 239- 245 PPQTGSY 246- 252 SQAPSQY 253- 259 SQQSSSY 260- 276 GQQSSFRQDHPSSMGVY 277- 285 GQESGGFSG
Domains	DOMAIN 256 285 IQ. DOMAIN 361 447 RRM
Function	"Might normally function as a transcriptional 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"
Motifs	MOTIF 639 656 Nuclear localization signal
Mutation	648 648 R->A: Cytoplasmic localization 648 648 R->K: No effect on nuclear targeting 651 651 R->A: No effect on nuclear targeting 652 652 R->A: Cytoplasmic localization 652 652 R->K: No effect on nuclear targeting 653 653 D->A: No effect on nuclear targeting 654 654 R->A: No effect on nuclear targeting 655 655 P->A: Cytoplasmic localization 656 656 Y->A: Cytoplasmic localization
Disease	"DISEASE: 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 protein represented in this entry is involved in disease pathogenesis Chromosomal aberrations involving EWSR1 are found in patients with Ewing sarcoma Translocation t(11;22)(q24;q12) with FLI1 (PubMed:1522903, PubMed:15044653) Translocation t(7;22)(p22;q12) with ETV1 (PubMed:7700648) Translocation t(21;22)(q22;q21) with ERG (PubMed:15044653) Translocation t(2;21;22)(q23;q22;q12) that forms a EWSR1-FEV fusion protein with potential oncogenic activity (PubMed:9121764) ; DISEASE: Note=A chromosomal aberration involving EWSR1 has been found in extraskeletal myxoid chondrosarcoma Translocation t(9;22)(q22-31;q11-12) with NR4A3 ; DISEASE: Note=A chromosomal aberration involving EWSR1 is associated with desmoplastic small round cell tumor (DSRCT) Translocation t(11;22)(p13;q12) with WT1 ; DISEASE: Note=A chromosomal aberration involving EWSR1 is associated with malignant melanoma of soft parts (MMSP) Translocation t(12;22)(q13;q12) with ATF1 Malignant melanoma of soft parts, also known as soft tissue clear cell sarcoma, is a rare tumor developing in tendons and aponeuroses ; DISEASE: Note=A chromosomal aberration involving EWSR1 is associated with small round cell sarcoma Translocation t(11;22)(p36 1;q12) with PATZ1 ; DISEASE: 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 gene represented in this entry is involved in disease pathogenesis 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 (PubMed:15884099) Translocation t(2;22)(q33;q12) with CREB1 generates a EWSR1/CREB1 fusion gene that is most common genetic abnormality in this tumor type (PubMed:17724745) ; DISEASE: 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"

Q01844 Proteins with OtherRepeats Repeats