Skip Header

Contribute Send feedback
Read comments (?) or add your own

P50549 (ETV1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 108. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ETS translocation variant 1
Alternative name(s):
Ets-related protein 81
Gene names
Name:ETV1
Synonyms:ER81
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length477 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

Nucleus Probable.

Tissue specificity

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.

Post-translational modification

Sumoylated. Ref.10

Phosphorylated at Ser-191 and Ser-216 by RPS6KA1 and RPS6KA5; phosphorylation activates transcriptional activity. Ref.8 Ref.9

Involvement in disease

Defects in ETV1 are a cause of 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=A chromosomal aberration involving ETV1 is found in patients with Erwing sarcoma. Translocation t(7;22)(p22;q12) with EWSR1.

Sequence similarities

Belongs to the ETS family.

Contains 1 ETS DNA-binding domain.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PRKDCP785272EBI-3905068,EBI-352053

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P50549-1)

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.
Isoform 2 (identifier: P50549-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 477477ETS translocation variant 1
PRO_0000204110

Regions

DNA binding335 – 41581ETS

Amino acid modifications

Modified residue1911Phosphoserine; by RPS6KA1 and RPS6KA5 Ref.8 Ref.9
Modified residue2161Phosphoserine; by RPS6KA1 and RPS6KA5 Ref.8 Ref.9

Natural variations

Alternative sequence61 – 7919AQVPD…QAESL → V in isoform 2.
VSP_001472
Natural variant1001S → G. Ref.4
Corresponds to variant rs9639168 [ dbSNP | Ensembl ].
VAR_048948

Experimental info

Mutagenesis1911S → A: Loss of phosphorylation by RPS6KA5. Ref.9
Mutagenesis2161S → A: Loss of phosphorylation by RPS6KA5. Ref.9
Sequence conflict391L → V in CAA60642. Ref.2
Sequence conflict1171C → S in AAA79844. Ref.1
Sequence conflict1271K → N in AAA79844. Ref.1
Sequence conflict2531Missing in CAA60642. Ref.2
Sequence conflict268 – 29023Missing in AAC62435. Ref.5
Sequence conflict3491S → A in CAA60642. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 24, 2001. Version 2.
Checksum: BE95FA3F07196F06

FASTA47755,131
        10         20         30         40         50         60 
MDGFYDQQVP YMVTNSQRGR NCNEKPTNVR KRKFINRDLA HDSEELFQDL SQLQETWLAE 

        70         80         90        100        110        120 
AQVPDNDEQF VPDYQAESLA FHGLPLKIKK EPHSPCSEIS SACSQEQPFK FSYGEKCLYN 

       130        140        150        160        170        180 
VSAYDQKPQV GMRPSNPPTP SSTPVSPLHH ASPNSTHTPK PDRAFPAHLP PSQSIPDSSY 

       190        200        210        220        230        240 
PMDHRFRRQL SEPCNSFPPL PTMPREGRPM YQRQMSEPNI PFPPQGFKQE YHDPVYEHNT 

       250        260        270        280        290        300 
MVGSAASQSF PPPLMIKQEP RDFAYDSEVP SCHSIYMRQE GFLAHPSRTE GCMFEKGPRQ 

       310        320        330        340        350        360 
FYDDTCVVPE KFDGDIKQEP GMYREGPTYQ RRGSLQLWQF LVALLDDPSN SHFIAWTGRG 

       370        380        390        400        410        420 
MEFKLIEPEE VARRWGIQKN RPAMNYDKLS RSLRYYYEKG IMQKVAGERY VYKFVCDPEA 

       430        440        450        460        470 
LFSMAFPDNQ RPLLKTDMER HINEEDTVPL SHFDESMAYM PEGGCCNPHP YNEGYVY 

« Hide

Isoform 2 [UniParc].

Checksum: 558A574E5B53979B
Show »

FASTA45953,083

References

« Hide 'large scale' references
[1]"A variant Ewing's sarcoma translocation (7;22) fuses the EWS gene to the ETS gene ETV1."
Jeon I.-S., Davis J.N., Braun B.S., Sublett J.E., Roussel M.F., Denny C.T., Shapiro D.N.
Oncogene 10:1229-1234(1995) [PubMed: 7700648] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Molecular characterization of the ets-related human transcription factor ER81."
Monte D., Coutte L., Baert J.-L., Angeli I., Stehelin D., de Launoit Y.
Oncogene 11:771-779(1995) [PubMed: 7651741] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Kidney.
[3]"Characterization of the human and mouse ER81/ETV1 transcription factor genes. Role of the two human alternatively spliced isoforms."
Coutte L., Monte D., Pouilly L., Dewitte F., Vidaud M., Baert J.-L., de Launoit Y.
Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2).
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT GLY-100.
Tissue: Brain and Trachea.
[5]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed: 12853948] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"Human chromosome 7: DNA sequence and biology."
Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. expand/collapse author list , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
Science 300:767-772(2003) [PubMed: 12690205] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[8]"Regulation of the ETS transcription factor ER81 by the 90-kDa ribosomal S6 kinase 1 and protein kinase A."
Wu J., Janknecht R.
J. Biol. Chem. 277:42669-42679(2002) [PubMed: 12213813] [Abstract]
Cited for: PHOSPHORYLATION AT SER-191 AND SER-216.
[9]"Regulation of the ER81 transcription factor and its coactivators by mitogen- and stress-activated protein kinase 1 (MSK1)."
Janknecht R.
Oncogene 22:746-755(2003) [PubMed: 12569367] [Abstract]
Cited for: PHOSPHORYLATION AT SER-191 AND SER-216, MUTAGENESIS OF SER-191 AND SER-216.
[10]"Systematic identification and analysis of mammalian small ubiquitin-like modifier substrates."
Gocke C.B., Yu H., Kang J.
J. Biol. Chem. 280:5004-5012(2005) [PubMed: 15561718] [Abstract]
Cited for: SUMOYLATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U17163 mRNA. Translation: AAA79844.1.
X87175 mRNA. Translation: CAA60642.1.
AF109632 expand/collapse EMBL AC list , AF109621, AF109622, AF109623, AF109624, AF109625, AF109626, AF109627, AF109628, AF109629, AF109630, AF109631 Genomic DNA. Translation: AAD29877.1.
AF109632 expand/collapse EMBL AC list , AF109621, AF109622, AF109623, AF109625, AF109626, AF109627, AF109628, AF109629, AF109630, AF109631 Genomic DNA. Translation: AAD29878.1.
AK294755 mRNA. Translation: BAH11870.1.
AK312863 mRNA. Translation: BAG35715.1.
AC004857 Genomic DNA. Translation: AAC62435.1.
CH236948 Genomic DNA. Translation: EAL24294.1.
BC098403 mRNA. Translation: AAH98403.1.
BC106762 mRNA. Translation: AAI06763.1.
BC106763 mRNA. Translation: AAI06764.1.
IPIIPI00221065.
IPI00306430.
PIRI38893.
RefSeqNP_001156619.1. NM_001163147.1.
NP_001156620.1. NM_001163148.1.
NP_001156621.1. NM_001163149.1.
NP_001156622.1. NM_001163150.1.
NP_004947.2. NM_004956.4.
UniGeneHs.22634.

3D structure databases

ProteinModelPortalP50549.
SMRP50549. Positions 329-450.
ModBaseSearch...

Protein-protein interaction databases

IntActP50549. 5 interactions.
STRINGP50549.

PTM databases

PhosphoSiteP50549.

Polymorphism databases

DMDM12643411.

Proteomic databases

PRIDEP50549.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000242066; ENSP00000242066; ENSG00000006468.
ENST00000343495; ENSP00000340853; ENSG00000006468.
ENST00000403685; ENSP00000385686; ENSG00000006468.
ENST00000430479; ENSP00000405327; ENSG00000006468.
GeneID2115.
KEGGhsa:2115.

Organism-specific databases

CTD2115.
GeneCardsGC07M013897.
H-InvDBHIX0006492.
HGNCHGNC:3490. ETV1.
MIM600541. gene.
612219. phenotype.
neXtProtNX_P50549.
Orphanet319. Ewing sarcoma.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG18081.
GeneTreeENSGT00600000083997.
HOVERGENHBG000231.
OrthoDBEOG45X7W5.

Enzyme and pathway databases

Pathway_Interaction_DBp38_mk2pathway. p38 signaling mediated by MAPKAP kinases.

Gene expression databases

ArrayExpressP50549.
BgeeP50549.
CleanExHS_ETV1.
GenevestigatorP50549.
GermOnlineENSG00000006468. Homo sapiens.

Family and domain databases

InterProIPR000418. Ets.
IPR006715. ETS_PEA3_N.
IPR011991. WHTH_trsnscrt_rep_DNA-bd.
[Graphical view]
Gene3DG3DSA:1.10.10.10. Wing_hlx_DNA_bd. 1 hit.
KOK09431.
PfamPF00178. Ets. 1 hit.
PF04621. ETS_PEA3_N. 1 hit.
[Graphical view]
PRINTSPR00454. ETSDOMAIN.
SMARTSM00413. ETS. 1 hit.
[Graphical view]
PROSITEPS00345. ETS_DOMAIN_1. 1 hit.
PS00346. ETS_DOMAIN_2. 1 hit.
PS50061. ETS_DOMAIN_3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

NextBio8547.
SOURCESearch...

Entry information

Entry nameETV1_HUMAN
AccessionPrimary (citable) accession number: P50549
Secondary accession number(s): A4D118 expand/collapse secondary AC list , B2R768, B7Z2I4, O75849, Q4KMQ6, Q9UQ71, Q9Y636
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: January 24, 2001
Last modified: January 25, 2012
This is version 108 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families