P50549 (ETV1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 121.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: ETS translocation variant 1 Alternative name(s): Ets-related protein 81 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| 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.12 Phosphorylated at Ser-191 and Ser-216 by RPS6KA1 and RPS6KA5; phosphorylation activates transcriptional activity. Ref.10 Ref.11 |
| Involvement in disease | 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. |
| Sequence similarities | Belongs to the ETS family. Contains 1 ETS DNA-binding domain. |
| Sequence caution | The sequence BAD92439.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| PRKDC | P78527 | 2 | EBI-3905068,EBI-352053 |
Alternative products
| This entry describes 6 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 | ||||||
| Isoform 3 (identifier: P50549-3) The sequence of this isoform differs from the canonical sequence as follows: 268-290: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: P50549-4) The sequence of this isoform differs from the canonical sequence as follows: 1-60: MDGFYDQQVP...SQLQETWLAE → MLQDLSASVFFPPCSQHRTL 122-184: Missing. | ||||||
| Isoform 5 (identifier: P50549-5) 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. | ||||||
| Isoform 6 (identifier: P50549-6) The sequence of this isoform differs from the canonical sequence as follows: 1-60: MDGFYDQQVP...SQLQETWLAE → MLQDLSASVFFPPCSQHRTL | ||||||
| Note: No experimental confirmation available. |
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.10 Ref.11 | |||||||||||||||||||||||
| Modified residue | 216 | 1 | Phosphoserine; by RPS6KA1 and RPS6KA5 Ref.10 Ref.11 | |||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||
| Alternative sequence | 1 – 60 | 60 | MDGFY…TWLAE → MLQDLSASVFFPPCSQHRTL in isoform 4, isoform 5 and isoform 6. | VSP_043808 | ||||||||||||||||||||||
| Alternative sequence | 61 – 79 | 19 | AQVPD…QAESL → V in isoform 2 and isoform 5. | VSP_001472 | ||||||||||||||||||||||
| Alternative sequence | 122 – 184 | 63 | Missing in isoform 4. | VSP_043809 | ||||||||||||||||||||||
| Alternative sequence | 268 – 290 | 23 | Missing in isoform 3. | VSP_043750 | ||||||||||||||||||||||
| Natural variant | 100 | 1 | S → G. Ref.4 Ref.5 Corresponds to variant rs9639168 [ dbSNP | Ensembl ]. | VAR_048948 | ||||||||||||||||||||||
Experimental info | ||||||||||||||||||||||||||
| Mutagenesis | 191 | 1 | S → A: Loss of phosphorylation by RPS6KA5. Ref.11 | |||||||||||||||||||||||
| Mutagenesis | 216 | 1 | S → A: Loss of phosphorylation by RPS6KA5. Ref.11 | |||||||||||||||||||||||
| 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 | 349 | 1 | S → A in CAA60642. Ref.2 | |||||||||||||||||||||||
| Sequence conflict | 445 | 1 | E → G in CAH10484. Ref.6 | |||||||||||||||||||||||
| Sequence conflict | 471 | 1 | Y → C in BAH13104. Ref.4 | |||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||
| Helix | 337 – 346 | 10 | ||||||||||||||||||||||||
| Helix | 348 – 350 | 3 | ||||||||||||||||||||||||
| Turn | 351 – 353 | 3 | ||||||||||||||||||||||||
| Beta strand | 354 – 356 | 3 | ||||||||||||||||||||||||
| Beta strand | 362 – 367 | 6 | ||||||||||||||||||||||||
| Helix | 368 – 378 | 11 | ||||||||||||||||||||||||
| Helix | 386 – 399 | 14 | ||||||||||||||||||||||||
| Beta strand | 401 – 404 | 4 | ||||||||||||||||||||||||
| Beta strand | 409 – 414 | 6 | ||||||||||||||||||||||||
| Helix | 418 – 425 | 8 | ||||||||||||||||||||||||
Sequences
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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] [Europe PMC] [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] [Europe PMC] [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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 4 AND 5), VARIANT GLY-100. Tissue: Brain and Trachea. |
| [5] | "Homo sapiens protein coding cDNA." Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F. Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT GLY-100. Tissue: Brain. |
| [6] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6). Tissue: Seminoma. |
| [7] | "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. Wilson R.K.Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [8] | "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. Tsui L.-C.Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [9] | "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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [10] | "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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION AT SER-191 AND SER-216. |
| [11] | "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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION AT SER-191 AND SER-216, MUTAGENESIS OF SER-191 AND SER-216. |
| [12] | "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] [Europe PMC] [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 AF109631 Genomic DNA. Translation: AAD29877.1.AF109632 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. | ||||||||||||||||||
| IPI | IPI00221065. IPI00306430. IPI00744316. IPI00892607. IPI00892613. | ||||||||||||||||||
| 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_001156623.1. NM_001163151.1. NP_001156624.1. NM_001163152.1. NP_004947.2. NM_004956.4. | ||||||||||||||||||
| UniGene | Hs.22634. | ||||||||||||||||||
3D structure databases | |||||||||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | P50549. | ||||||||||||||||||
| ModBase | Search... | ||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||
| IntAct | P50549. 5 interactions. | ||||||||||||||||||
| STRING | 9606.ENSP00000384085. | ||||||||||||||||||
PTM databases | |||||||||||||||||||
| PhosphoSite | P50549. | ||||||||||||||||||
Polymorphism databases | |||||||||||||||||||
| DMDM | 12643411. | ||||||||||||||||||
Proteomic databases | |||||||||||||||||||
| PaxDb | P50549. | ||||||||||||||||||
| PRIDE | P50549. | ||||||||||||||||||
Protocols and materials databases | |||||||||||||||||||
| DNASU | 2115. | ||||||||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||||||||
Genome annotation databases | |||||||||||||||||||
| Ensembl | ENST00000242066; ENSP00000242066; ENSG00000006468. ENST00000343495; ENSP00000340853; ENSG00000006468. ENST00000399357; ENSP00000382293; ENSG00000006468. ENST00000403527; ENSP00000384138; ENSG00000006468. ENST00000403685; ENSP00000385686; ENSG00000006468. ENST00000405192; ENSP00000385381; ENSG00000006468. ENST00000405218; ENSP00000385551; ENSG00000006468. ENST00000420159; ENSP00000411626; ENSG00000006468. ENST00000430479; ENSP00000405327; ENSG00000006468. | ||||||||||||||||||
| GeneID | 2115. | ||||||||||||||||||
| KEGG | hsa:2115. | ||||||||||||||||||
| UCSC | uc021zzz.1. human. uc022aaa.1. human. | ||||||||||||||||||
Organism-specific databases | |||||||||||||||||||
| CTD | 2115. | ||||||||||||||||||
| GeneCards | GC07M013897. | ||||||||||||||||||
| HGNC | HGNC:3490. ETV1. | ||||||||||||||||||
| MIM | 600541. gene. 612219. phenotype. | ||||||||||||||||||
| neXtProt | NX_P50549. | ||||||||||||||||||
| Orphanet | 319. Ewing sarcoma. | ||||||||||||||||||
| PharmGKB | PA27904. | ||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||
| eggNOG | NOG258471. | ||||||||||||||||||
| HOGENOM | HOG000230986. | ||||||||||||||||||
| HOVERGEN | HBG000231. | ||||||||||||||||||
| KO | K09431. | ||||||||||||||||||
| 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 | |||||||||||||||||||
| Gene3D | 1.10.10.10. 1 hit. | ||||||||||||||||||
| InterPro | IPR000418. Ets_dom. IPR006715. ETS_PEA3_N. IPR011991. WHTH_DNA-bd_dom. [Graphical view] | ||||||||||||||||||
| 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 | |||||||||||||||||||
| ChiTaRS | ETV1. human. | ||||||||||||||||||
| GenomeRNAi | 2115. | ||||||||||||||||||
| NextBio | 13627645. | ||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||
Entry information
| Entry name | ETV1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P50549 Secondary accession number(s): A4D118 Q9Y636 | ||||||||
| Entry history |
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| 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. | ||||||||
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 |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with
