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Details on Person UniProt:P41212 ETV6
| Class:Id | ReferenceGeneProduct:54508 |
|---|---|
| _chainChangeLog | initiator methionine:1 added on Fri February 6 2015;chain:2-452 added on Fri February 6 2015;initiator methionine:1 removed on Tue November 3 2015;chain:2-452 removed on Tue November 3 2015;chain:1-452 added on Tue November 3 2015 |
| _displayName | UniProt:P41212 ETV6 |
| _timestamp | 2024-11-03 19:51:07 |
| chain | chain:1-452 |
| checksum | DEC45682ECADECBB |
| comment | FUNCTION Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation.SUBUNIT Can form homodimers or heterodimers with TEL2 or FLI1. Interacts with L3MBTL1 and HDAC9.INTERACTION Ubiquitous.PTM Phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression.DISEASE A chromosomal aberration involving ETV6 is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;12)(q33;p13) with PDGFRB. It is characterized by abnormal clonal myeloid proliferation and by progression to acute myelogenous leukemia (AML).DISEASE Chromosomal aberrations involving ETV6 are found in acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with MN1 (PubMed:7731705). Translocation t(4;12)(q12;p13) with CHIC2 (PubMed:10477709).DISEASE Chromosomal aberrations involving ETV6 are found in childhood acute lymphoblastic leukemia (ALL). Translocations t(12;21)(p12;q22) and t(12;21)(p13;q22) with RUNX1/AML1.DISEASE A chromosomal aberration involving ETV6 is found in a form of pre-B acute lymphoid leukemia. Translocation t(9;12)(p24;p13) with JAK2.DISEASE A chromosomal aberration involving ETV6 and JAK2 is found in an atypical chronic myelogenous leukemia. Translocation t(9;15;12)(p24;q15;p13).DISEASE A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6.DISEASE A chromosomal aberration involving ETV6 is found in acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6.DISEASE A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2.DISEASE A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5.DISEASE The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ETV6 is found in many instances of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein.DISEASE The gene represented in this entry is involved in disease pathogenesis.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the ETS family.SEQUENCE CAUTION Extended N-terminus. |
| description | recommendedName: Transcription factor ETV6 alternativeName: ETS translocation variant 6 alternativeName: ETS-related protein Tel1 shortName: Tel |
| geneName | ETV6 TEL TEL1 |
| identifier | P41212 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Chromosomal rearrangement Disease variant DNA-binding Isopeptide bond Nucleus Phosphoprotein Proteomics identification Proto-oncogene Reference proteome Repressor Transcription Transcription regulation Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | ETV6 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9002936] ENSEMBL:ENSG00000139083 ETV6 [Homo sapiens] |
| secondaryIdentifier | ETV6_HUMAN A3QVP6 A8K076 Q9UMF6 Q9UMF7 Q9UMG0 |
| sequenceLength | 452 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:9673893] ETV6(1-154)-PDGFRB(527-1106) fusion [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9673898] ETV6(1-384)-PDGFRA(552-1089) fusion [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9673905] p-11Y-ETV6(1-384)-PDGFRA(552-1089) fusion [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9673912] p-12Y-ETV6(1-154)-PDGFRB(527-1106) fusion [plasma membrane] [Homo sapiens] [EntityWithAccessionedSequence:9697944] ETV6(1-384)-FLT3(569-993) fusion [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9703302] ETV6(1-154)insGSFILG-p-6Y-FLT3(573-993) fusion [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9703305] ETV6(1-336)insGCS-p-6Y-FLT3(573-993) fusion [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9703307] ETV6(1-384)-FLT3(573-993) fusion [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9703308] ETV6(1-384)-p-6Y-FLT3(573-993) fusion [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:9703312] ETV6(1-154)insGSFILG-FLT3(573-993) fusion [cytosol] [Homo sapiens] |
| (referenceSequence) | [FragmentReplacedModification:9703285] Replacement of residues 336 to 336 by AGCS [FragmentReplacedModification:9703287] Replacement of residues 154 to 154 by EGSFILG |
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No pathways have been reviewed or authored by UniProt:P41212 ETV6 (54508)
