Entity Details

Primary name ETV1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP50549
EntryNameETV1_HUMAN
FullNameETS translocation variant 1
TaxID9606
Evidenceevidence at protein level
Length477
SequenceStatuscomplete
DateCreated1996-10-01
DateModified2021-06-02

Ontological Relatives

GenesETV1

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0006366 transcription by RNA polymerase II
GO:0030154 cell differentiation
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048935 peripheral nervous system neuron development
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000418 Ets domainDomainDomain
IPR006715 PEA3-type ETS-domain transcription factor, N-terminalDomainDomain
IPR032928 ETS translocation variant 1FamilyFamily
IPR036388 Winged helix-like DNA-binding domain superfamilyFamilyHomologous superfamily
IPR036390 Winged helix DNA-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
612219 OMIMEwing sarcoma (ES)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. The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving ETV1 is found in patients with Erwing sarcoma. Translocation t(7;22)(p22;q12) with EWSR1.