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Protein

ETS translocation variant 1

Gene

ETV1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcriptional activator that binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi335 – 415ETSPROSITE-ProRule annotationAdd BLAST81

GO - Molecular functioni

GO - Biological processi

  • axon guidance Source: Ensembl
  • mechanosensory behavior Source: Ensembl
  • muscle organ development Source: Ensembl
  • peripheral nervous system neuron development Source: BHF-UCL
  • positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  • transcription from RNA polymerase II promoter Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000006468-MONOMER.
SIGNORiP50549.

Names & Taxonomyi

Protein namesi
Recommended name:
ETS translocation variant 1
Alternative name(s):
Ets-related protein 81
Gene namesi
Name:ETV1
Synonyms:ER81
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:3490. ETV1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Ewing sarcoma (ES)1 Publication
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 EWSR1.1 Publication
Disease descriptionA 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.
See also OMIM:612219

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi191S → A: Loss of phosphorylation by RPS6KA5. 1 Publication1
Mutagenesisi216S → A: Loss of phosphorylation by RPS6KA5. 1 Publication1

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi2115.
MalaCardsiETV1.
MIMi612219. phenotype.
OpenTargetsiENSG00000006468.
Orphaneti319. Ewing sarcoma.
PharmGKBiPA27904.

Chemistry databases

ChEMBLiCHEMBL2010626.

Polymorphism and mutation databases

BioMutaiETV1.
DMDMi12643411.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002041101 – 477ETS translocation variant 1Add BLAST477

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei94PhosphoserineBy similarity1
Modified residuei191Phosphoserine; by RPS6KA1 and RPS6KA52 Publications1
Modified residuei216Phosphoserine; by RPS6KA1 and RPS6KA52 Publications1
Cross-linki317Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)By similarity

Post-translational modificationi

Sumoylated.1 Publication
Phosphorylated at Ser-191 and Ser-216 by RPS6KA1 and RPS6KA5; phosphorylation activates transcriptional activity.2 Publications

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiP50549.
PaxDbiP50549.
PeptideAtlasiP50549.
PRIDEiP50549.

PTM databases

iPTMnetiP50549.
PhosphoSitePlusiP50549.

Expressioni

Tissue specificityi

Very highly expressed in brain, highly expressed in testis, lung and heart, moderately in spleen, small intestine, pancreas and colon, weakly in liver, prostate and thymus, very weakly in skeletal muscle, kidney and ovary and not in placenta and peripheral blood leukocytes.

Gene expression databases

BgeeiENSG00000006468.
CleanExiHS_ETV1.
ExpressionAtlasiP50549. baseline and differential.
GenevisibleiP50549. HS.

Organism-specific databases

HPAiCAB017631.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
PRKDCP785272EBI-3905068,EBI-352053

Protein-protein interaction databases

BioGridi108416. 21 interactors.
DIPiDIP-60463N.
IntActiP50549. 6 interactors.
STRINGi9606.ENSP00000385551.

Chemistry databases

BindingDBiP50549.

Structurei

Secondary structure

1477
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi337 – 346Combined sources10
Helixi348 – 350Combined sources3
Turni351 – 353Combined sources3
Beta strandi354 – 356Combined sources3
Beta strandi362 – 367Combined sources6
Helixi368 – 378Combined sources11
Helixi386 – 399Combined sources14
Beta strandi401 – 404Combined sources4
Beta strandi409 – 414Combined sources6
Helixi418 – 425Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4AVPX-ray1.82A/B/C/D326-429[»]
4BNCX-ray2.90A326-429[»]
ProteinModelPortaliP50549.
SMRiP50549.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the ETS family.Curated
Contains 1 ETS DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3806. Eukaryota.
ENOG410Z0ZF. LUCA.
GeneTreeiENSGT00760000118907.
HOGENOMiHOG000230986.
HOVERGENiHBG000231.
InParanoidiP50549.
KOiK09431.
PhylomeDBiP50549.
TreeFamiTF316214.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR000418. Ets_dom.
IPR006715. ETS_PEA3_N.
IPR032928. ETS_V1.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PANTHERiPTHR11849:SF210. PTHR11849:SF210. 2 hits.
PfamiPF00178. Ets. 1 hit.
PF04621. ETS_PEA3_N. 1 hit.
[Graphical view]
PRINTSiPR00454. ETSDOMAIN.
SMARTiSM00413. ETS. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiPS00345. ETS_DOMAIN_1. 1 hit.
PS00346. ETS_DOMAIN_2. 1 hit.
PS50061. ETS_DOMAIN_3. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P50549-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDGFYDQQVP YMVTNSQRGR NCNEKPTNVR KRKFINRDLA HDSEELFQDL
60 70 80 90 100
SQLQETWLAE AQVPDNDEQF VPDYQAESLA FHGLPLKIKK EPHSPCSEIS
110 120 130 140 150
SACSQEQPFK FSYGEKCLYN VSAYDQKPQV GMRPSNPPTP SSTPVSPLHH
160 170 180 190 200
ASPNSTHTPK PDRAFPAHLP PSQSIPDSSY PMDHRFRRQL SEPCNSFPPL
210 220 230 240 250
PTMPREGRPM YQRQMSEPNI PFPPQGFKQE YHDPVYEHNT MVGSAASQSF
260 270 280 290 300
PPPLMIKQEP RDFAYDSEVP SCHSIYMRQE GFLAHPSRTE GCMFEKGPRQ
310 320 330 340 350
FYDDTCVVPE KFDGDIKQEP GMYREGPTYQ RRGSLQLWQF LVALLDDPSN
360 370 380 390 400
SHFIAWTGRG MEFKLIEPEE VARRWGIQKN RPAMNYDKLS RSLRYYYEKG
410 420 430 440 450
IMQKVAGERY VYKFVCDPEA LFSMAFPDNQ RPLLKTDMER HINEEDTVPL
460 470
SHFDESMAYM PEGGCCNPHP YNEGYVY
Length:477
Mass (Da):55,131
Last modified:January 24, 2001 - v2
Checksum:iBE95FA3F07196F06
GO
Isoform 2 (identifier: P50549-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     61-79: AQVPDNDEQFVPDYQAESL → V

Show »
Length:459
Mass (Da):53,083
Checksum:i558A574E5B53979B
GO
Isoform 3 (identifier: P50549-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     268-290: Missing.

Note: No experimental confirmation available.
Show »
Length:454
Mass (Da):52,474
Checksum:iF0BB1A4835FCF45D
GO
Isoform 4 (identifier: P50549-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MDGFYDQQVP...SQLQETWLAE → MLQDLSASVFFPPCSQHRTL
     122-184: Missing.

Show »
Length:374
Mass (Da):43,455
Checksum:iE493CC2364AD60C2
GO
Isoform 5 (identifier: P50549-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MDGFYDQQVP...SQLQETWLAE → MLQDLSASVFFPPCSQHRTL
     61-79: AQVPDNDEQFVPDYQAESL → V

Note: No experimental confirmation available.
Show »
Length:419
Mass (Da):48,168
Checksum:i24285CFD0B256971
GO
Isoform 6 (identifier: P50549-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MDGFYDQQVP...SQLQETWLAE → MLQDLSASVFFPPCSQHRTL

Note: No experimental confirmation available.
Show »
Length:437
Mass (Da):50,217
Checksum:i37A55122A463957C
GO

Sequence cautioni

The sequence BAD92439 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti39L → V in CAA60642 (PubMed:7651741).Curated1
Sequence conflicti117C → S in AAA79844 (PubMed:7700648).Curated1
Sequence conflicti127K → N in AAA79844 (PubMed:7700648).Curated1
Sequence conflicti253Missing in CAA60642 (PubMed:7651741).Curated1
Sequence conflicti349S → A in CAA60642 (PubMed:7651741).Curated1
Sequence conflicti445E → G in CAH10484 (PubMed:17974005).Curated1
Sequence conflicti471Y → C in BAH13104 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048948100S → G.2 PublicationsCorresponds to variant rs9639168dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0438081 – 60MDGFY…TWLAE → MLQDLSASVFFPPCSQHRTL in isoform 4, isoform 5 and isoform 6. 2 PublicationsAdd BLAST60
Alternative sequenceiVSP_00147261 – 79AQVPD…QAESL → V in isoform 2 and isoform 5. 2 PublicationsAdd BLAST19
Alternative sequenceiVSP_043809122 – 184Missing in isoform 4. 1 PublicationAdd BLAST63
Alternative sequenceiVSP_043750268 – 290Missing in isoform 3. 1 PublicationAdd BLAST23

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U17163 mRNA. Translation: AAA79844.1.
X87175 mRNA. Translation: CAA60642.1.
AF109632
, AF109621, AF109622, AF109623, AF109624, AF109625, AF109626, AF109627, AF109628, AF109629, AF109630, AF109631 Genomic DNA. Translation: AAD29877.1.
AF109632
, AF109621, AF109622, AF109623, AF109625, AF109626, AF109627, AF109628, AF109629, AF109630, AF109631 Genomic DNA. Translation: AAD29878.1.
AK294755 mRNA. Translation: BAH11870.1.
AK299693 mRNA. Translation: BAH13104.1.
AK312863 mRNA. Translation: BAG35715.1.
AK316007 mRNA. Translation: BAH14378.1.
AB209202 mRNA. Translation: BAD92439.1. Different initiation.
CR627389 mRNA. Translation: CAH10484.1.
AC004857 Genomic DNA. Translation: AAC62435.1.
AC004909 Genomic DNA. No translation available.
CH236948 Genomic DNA. Translation: EAL24294.1.
BC098403 mRNA. Translation: AAH98403.1.
BC106762 mRNA. Translation: AAI06763.1.
BC106763 mRNA. Translation: AAI06764.1.
CCDSiCCDS55083.1. [P50549-5]
CCDS55084.1. [P50549-4]
CCDS55085.1. [P50549-6]
CCDS55086.1. [P50549-2]
CCDS55087.1. [P50549-3]
CCDS55088.1. [P50549-1]
PIRiI38893.
RefSeqiNP_001156619.1. NM_001163147.1. [P50549-3]
NP_001156620.1. NM_001163148.1. [P50549-2]
NP_001156621.1. NM_001163149.1. [P50549-2]
NP_001156622.1. NM_001163150.1. [P50549-6]
NP_001156623.1. NM_001163151.1. [P50549-5]
NP_001156624.1. NM_001163152.1. [P50549-4]
NP_004947.2. NM_004956.4. [P50549-1]
XP_005249692.1. XM_005249635.4. [P50549-1]
XP_005249693.1. XM_005249636.4. [P50549-1]
XP_011513470.1. XM_011515168.2. [P50549-1]
UniGeneiHs.22634.
Hs.574240.

Genome annotation databases

EnsembliENST00000242066; ENSP00000242066; ENSG00000006468. [P50549-2]
ENST00000399357; ENSP00000382293; ENSG00000006468. [P50549-4]
ENST00000403527; ENSP00000384138; ENSG00000006468. [P50549-6]
ENST00000403685; ENSP00000385686; ENSG00000006468. [P50549-2]
ENST00000405192; ENSP00000385381; ENSG00000006468. [P50549-3]
ENST00000405218; ENSP00000385551; ENSG00000006468. [P50549-1]
ENST00000420159; ENSP00000411626; ENSG00000006468. [P50549-5]
ENST00000430479; ENSP00000405327; ENSG00000006468. [P50549-1]
GeneIDi2115.
KEGGihsa:2115.
UCSCiuc003ssw.5. human. [P50549-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U17163 mRNA. Translation: AAA79844.1.
X87175 mRNA. Translation: CAA60642.1.
AF109632
, AF109621, AF109622, AF109623, AF109624, AF109625, AF109626, AF109627, AF109628, AF109629, AF109630, AF109631 Genomic DNA. Translation: AAD29877.1.
AF109632
, AF109621, AF109622, AF109623, AF109625, AF109626, AF109627, AF109628, AF109629, AF109630, AF109631 Genomic DNA. Translation: AAD29878.1.
AK294755 mRNA. Translation: BAH11870.1.
AK299693 mRNA. Translation: BAH13104.1.
AK312863 mRNA. Translation: BAG35715.1.
AK316007 mRNA. Translation: BAH14378.1.
AB209202 mRNA. Translation: BAD92439.1. Different initiation.
CR627389 mRNA. Translation: CAH10484.1.
AC004857 Genomic DNA. Translation: AAC62435.1.
AC004909 Genomic DNA. No translation available.
CH236948 Genomic DNA. Translation: EAL24294.1.
BC098403 mRNA. Translation: AAH98403.1.
BC106762 mRNA. Translation: AAI06763.1.
BC106763 mRNA. Translation: AAI06764.1.
CCDSiCCDS55083.1. [P50549-5]
CCDS55084.1. [P50549-4]
CCDS55085.1. [P50549-6]
CCDS55086.1. [P50549-2]
CCDS55087.1. [P50549-3]
CCDS55088.1. [P50549-1]
PIRiI38893.
RefSeqiNP_001156619.1. NM_001163147.1. [P50549-3]
NP_001156620.1. NM_001163148.1. [P50549-2]
NP_001156621.1. NM_001163149.1. [P50549-2]
NP_001156622.1. NM_001163150.1. [P50549-6]
NP_001156623.1. NM_001163151.1. [P50549-5]
NP_001156624.1. NM_001163152.1. [P50549-4]
NP_004947.2. NM_004956.4. [P50549-1]
XP_005249692.1. XM_005249635.4. [P50549-1]
XP_005249693.1. XM_005249636.4. [P50549-1]
XP_011513470.1. XM_011515168.2. [P50549-1]
UniGeneiHs.22634.
Hs.574240.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4AVPX-ray1.82A/B/C/D326-429[»]
4BNCX-ray2.90A326-429[»]
ProteinModelPortaliP50549.
SMRiP50549.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108416. 21 interactors.
DIPiDIP-60463N.
IntActiP50549. 6 interactors.
STRINGi9606.ENSP00000385551.

Chemistry databases

BindingDBiP50549.
ChEMBLiCHEMBL2010626.

PTM databases

iPTMnetiP50549.
PhosphoSitePlusiP50549.

Polymorphism and mutation databases

BioMutaiETV1.
DMDMi12643411.

Proteomic databases

MaxQBiP50549.
PaxDbiP50549.
PeptideAtlasiP50549.
PRIDEiP50549.

Protocols and materials databases

DNASUi2115.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000242066; ENSP00000242066; ENSG00000006468. [P50549-2]
ENST00000399357; ENSP00000382293; ENSG00000006468. [P50549-4]
ENST00000403527; ENSP00000384138; ENSG00000006468. [P50549-6]
ENST00000403685; ENSP00000385686; ENSG00000006468. [P50549-2]
ENST00000405192; ENSP00000385381; ENSG00000006468. [P50549-3]
ENST00000405218; ENSP00000385551; ENSG00000006468. [P50549-1]
ENST00000420159; ENSP00000411626; ENSG00000006468. [P50549-5]
ENST00000430479; ENSP00000405327; ENSG00000006468. [P50549-1]
GeneIDi2115.
KEGGihsa:2115.
UCSCiuc003ssw.5. human. [P50549-1]

Organism-specific databases

CTDi2115.
DisGeNETi2115.
GeneCardsiETV1.
HGNCiHGNC:3490. ETV1.
HPAiCAB017631.
MalaCardsiETV1.
MIMi600541. gene.
612219. phenotype.
neXtProtiNX_P50549.
OpenTargetsiENSG00000006468.
Orphaneti319. Ewing sarcoma.
PharmGKBiPA27904.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3806. Eukaryota.
ENOG410Z0ZF. LUCA.
GeneTreeiENSGT00760000118907.
HOGENOMiHOG000230986.
HOVERGENiHBG000231.
InParanoidiP50549.
KOiK09431.
PhylomeDBiP50549.
TreeFamiTF316214.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000006468-MONOMER.
SIGNORiP50549.

Miscellaneous databases

ChiTaRSiETV1. human.
GeneWikiiETV1.
GenomeRNAii2115.
PROiP50549.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000006468.
CleanExiHS_ETV1.
ExpressionAtlasiP50549. baseline and differential.
GenevisibleiP50549. HS.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
InterProiIPR000418. Ets_dom.
IPR006715. ETS_PEA3_N.
IPR032928. ETS_V1.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PANTHERiPTHR11849:SF210. PTHR11849:SF210. 2 hits.
PfamiPF00178. Ets. 1 hit.
PF04621. ETS_PEA3_N. 1 hit.
[Graphical view]
PRINTSiPR00454. ETSDOMAIN.
SMARTiSM00413. ETS. 1 hit.
[Graphical view]
SUPFAMiSSF46785. SSF46785. 1 hit.
PROSITEiPS00345. ETS_DOMAIN_1. 1 hit.
PS00346. ETS_DOMAIN_2. 1 hit.
PS50061. ETS_DOMAIN_3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiETV1_HUMAN
AccessioniPrimary (citable) accession number: P50549
Secondary accession number(s): A4D118
, B2R768, B7Z2I4, B7Z618, B7Z9P2, C9JT37, E9PHB1, F5GXR2, O75849, Q4KMQ6, Q59GA7, Q6AI30, Q9UQ71, Q9Y636
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 24, 2001
Last modified: November 2, 2016
This is version 155 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.