RNA-binding protein EWS is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...

that in humans is encoded by the ''EWSR1''

gene In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...

on human

chromosome 22 Chromosome 22 is one of the 23 pairs of chromosomes in human cell (biology), cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning about 49 million DNA base pairs and ...

, specifically 22q12.2. It is one of 3 proteins in the FET protein family. The q22.2 region of chromosome 22 encodes the N-terminal transactivation domain of the EWS protein and that region may become joined to one of several other chromosomes which encode various transcription factors, see and the

FET protein family The FET protein family (also known as the TET protein family consists of three similarly structured and functioning proteins. They and the genes in the FET gene family which encode them (i.e. form the pre-messenger RNAs that are converted to the me ...

. The expression of a chimeric protein with the EWS transactivation domain fused to the DNA binding region of a transcription factor generates a powerful oncogenic protein causing

Ewing sarcoma Ewing sarcoma is a type of cancer that forms in bone or soft tissue. Symptoms may include swelling and pain at the site of the tumor, fever, and a bone fracture. The most common areas where it begins are the legs, pelvis, and chest wall. In about ...

and other members of the

Ewing family of tumors The Ewing family of tumors is a group of cancers that includes Ewing tumor of bone (ETB or Ewing sarcoma of bone), extraosseous Ewing tumors (EOE tumors), primitive neuroectodermal tumors (PNET or peripheral neuroepithelioma), and Askin tumors (PNE ...

. These translocations can occur due to

chromoplexy Chromoplexy refers to a class of complex DNA rearrangement observed in the genomes of cancer cells. This phenomenon was first identified in prostate cancer by whole genome sequencing of prostate tumors. Chromoplexy causes genetic material from one o ...

, a burst of complex chromosomal rearrangements seen in cancer cells. The normal EWS gene encodes an RNA binding protein closely related to

FUS (gene) RNA-binding protein FUS/TLS (FUused in Sarcoma/Translocated in LipoSarcoma), also known as heterogeneous nuclear ribonucleoprotein P2 is a protein that in humans is encoded by the ''FUS'' gene. Discovery FUS/TLS was initially identified as a fu ...

and

TAF15 TATA-binding protein-associated factor 2N is a protein that in humans is encoded by the ''TAF15'' gene. Function Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates ...

, all of which have been associated to

amyotrophic lateral sclerosis Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or Lou Gehrig's disease, is a neurodegenerative disease that results in the progressive loss of motor neurons that control voluntary muscles. ALS is the most comm ...

Interactions

The EWS protein has been shown to

interact Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...

with: *

ATF1 Cyclic AMP-dependent transcription factor ATF-1 is a protein that in humans is encoded by the ''ATF1'' gene. This gene encodes an activating transcription factor, which belongs to the ATF subfamily and bZIP (basic-region leucine zipper) family. ...

, *

BARD1 BRCA1-associated RING domain protein 1 is a protein that in humans is encoded by the ''BARD1'' gene. The human BARD1 protein is 777 amino acids long and contains a RING finger domain (residues 46-90), four ankyrin repeats (residues 420-555), and t ...

, *

ERG The erg is a unit of energy equal to 10−7joules (100 nJ). It originated in the Centimetre–gram–second system of units (CGS). It has the symbol ''erg''. The erg is not an SI unit. Its name is derived from (), a Greek word meaning 'work' o ...

, *

POU4F1 POU domain, class 4, transcription factor 1 (POU4F1) also known as brain-specific homeobox/POU domain protein 3A (BRN3A), homeobox/POU domain protein RDC-1 or Oct-T1 is a protein that in humans is encoded by the ''POU4F1'' gene. BRN3A (POU4F1) is ...

, *

PTK2B Protein tyrosine kinase 2 beta is an enzyme that in humans is encoded by the ''PTK2B'' gene. Function This gene encodes a cytoplasmic protein tyrosine kinase that is involved in calcium-induced regulation of ion channels and activation of the ...

* SF1, * SNRPC, and * ZNF165.

References

External links

Ewing sarcoma breakpoint region 1
on the Atlas of Genetics and Oncology {{PDB Gallery, geneid=2130 Oncogenes

Interactions

References

Further reading

External links