P50549 (ETV1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ETS translocation variant 1

Alternative name(s):
Ets-related protein 81

Gene names

Name:	ETV1
Synonyms:	ER81

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	477 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Proto-oncogene
Ligand	DNA-binding
Molecular function	Activator
PTM	Phosphoprotein Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	peripheral nervous system neuron development Traceable author statement. Source: BHF-UCL transcription from RNA polymerase II promoter Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	protein binding Inferred from physical interaction. Source: IntAct sequence-specific DNA binding Inferred from electronic annotation. Source: InterPro sequence-specific DNA binding transcription factor activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
PRKDC	P78527	2	EBI-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 477	477	ETS translocation variant 1		PRO_0000204110
Regions
	DNA binding	335 – 415	81	ETS
Amino acid modifications
	Modified residue	191	1	Phosphoserine; by RPS6KA1 and RPS6KA5 Ref.8 Ref.9
	Modified residue	216	1	Phosphoserine; by RPS6KA1 and RPS6KA5 Ref.8 Ref.9
Natural variations
	Alternative sequence	61 – 79	19	AQVPD…QAESL → V in isoform 2.		VSP_001472
	Natural variant	100	1	S → G. Ref.4 Corresponds to variant rs9639168 [ dbSNP | Ensembl ].		VAR_048948
Experimental info
	Mutagenesis	191	1	S → A: Loss of phosphorylation by RPS6KA5. Ref.9
	Mutagenesis	216	1	S → A: Loss of phosphorylation by RPS6KA5. Ref.9
	Sequence conflict	39	1	L → V in CAA60642. Ref.2
	Sequence conflict	117	1	C → S in AAA79844. Ref.1
	Sequence conflict	127	1	K → N in AAA79844. Ref.1
	Sequence conflict	253	1	Missing in CAA60642. Ref.2
	Sequence conflict	268 – 290	23	Missing in AAC62435. Ref.5
	Sequence conflict	349	1	S → A in CAA60642. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 24, 2001. Version 2. Checksum: BE95FA3F07196F06	FASTA	477	55,131
	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
	Isoform 2 [UniParc]. Checksum: 558A574E5B53979B	FASTA	459	53,083
	10 20 30 40 50 60 MDGFYDQQVP YMVTNSQRGR NCNEKPTNVR KRKFINRDLA HDSEELFQDL SQLQETWLAE 70 80 90 100 110 120 VAFHGLPLKI KKEPHSPCSE ISSACSQEQP FKFSYGEKCL YNVSAYDQKP QVGMRPSNPP 130 140 150 160 170 180 TPSSTPVSPL HHASPNSTHT PKPDRAFPAH LPPSQSIPDS SYPMDHRFRR QLSEPCNSFP 190 200 210 220 230 240 PLPTMPREGR PMYQRQMSEP NIPFPPQGFK QEYHDPVYEH NTMVGSAASQ SFPPPLMIKQ 250 260 270 280 290 300 EPRDFAYDSE VPSCHSIYMR QEGFLAHPSR TEGCMFEKGP RQFYDDTCVV PEKFDGDIKQ 310 320 330 340 350 360 EPGMYREGPT YQRRGSLQLW QFLVALLDDP SNSHFIAWTG RGMEFKLIEP EEVARRWGIQ 370 380 390 400 410 420 KNRPAMNYDK LSRSLRYYYE KGIMQKVAGE RYVYKFVCDP EALFSMAFPD NQRPLLKTDM 430 440 450 ERHINEEDTV PLSHFDESMA YMPEGGCCNP HPYNEGYVY

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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 , 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. 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.
IPI	IPI00221065. IPI00306430.
PIR	I38893.
RefSeq	NP_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.
UniGene	Hs.22634.
3D structure databases
ProteinModelPortal	P50549.
SMR	P50549. Positions 329-450.
ModBase	Search...
Protein-protein interaction databases
IntAct	P50549. 5 interactions.
STRING	P50549.
PTM databases
PhosphoSite	P50549.
Polymorphism databases
DMDM	12643411.
Proteomic databases
PRIDE	P50549.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000242066; ENSP00000242066; ENSG00000006468. ENST00000343495; ENSP00000340853; ENSG00000006468. ENST00000403685; ENSP00000385686; ENSG00000006468. ENST00000430479; ENSP00000405327; ENSG00000006468.
GeneID	2115.
KEGG	hsa:2115.
Organism-specific databases
CTD	2115.
GeneCards	GC07M013897.
H-InvDB	HIX0006492.
HGNC	HGNC:3490. ETV1.
MIM	600541. gene. 612219. phenotype.
neXtProt	NX_P50549.
Orphanet	319. Ewing sarcoma.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG18081.
GeneTree	ENSGT00600000083997.
HOVERGEN	HBG000231.
OrthoDB	EOG45X7W5.
Enzyme and pathway databases
Pathway_Interaction_DB	p38_mk2pathway. p38 signaling mediated by MAPKAP kinases.
Gene expression databases
ArrayExpress	P50549.
Bgee	P50549.
CleanEx	HS_ETV1.
Genevestigator	P50549.
GermOnline	ENSG00000006468. Homo sapiens.
Family and domain databases
InterPro	IPR000418. Ets. IPR006715. ETS_PEA3_N. IPR011991. WHTH_trsnscrt_rep_DNA-bd. [Graphical view]
Gene3D	G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 1 hit.
KO	K09431.
Pfam	PF00178. Ets. 1 hit. PF04621. ETS_PEA3_N. 1 hit. [Graphical view]
PRINTS	PR00454. ETSDOMAIN.
SMART	SM00413. ETS. 1 hit. [Graphical view]
PROSITE	PS00345. ETS_DOMAIN_1. 1 hit. PS00346. ETS_DOMAIN_2. 1 hit. PS50061. ETS_DOMAIN_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	8547.
SOURCE	Search...

Entry information

Entry name

ETV1_HUMAN

Accession

Primary (citable) accession number: P50549
Secondary accession number(s): A4D118 , 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 status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.