Reviewed,
UniProtKB/Swiss-Prot P11308 (ERG_HUMAN)
Last modified
June 16, 2009.
Version 102.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Transcriptional regulator ERG Alternative name(s): Transforming protein ERG | ||
| Gene names |
| ||
| 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 | 486 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Transcriptional regulator. May participate in transcriptional regulation through the recruitment of SETDB1 histone methyltransferase and subsequent modification of local chromatin structure. |
| Subunit structure | Interacts with SETDB1 By similarity. |
| Subcellular location | |
| Involvement in disease | A chromosomal aberration involving ERG is a cause of Erwing sarcoma [MIM:133450]. Translocation t(21;22)(q22;q12) with ERW. A chromosomal aberration involving ERG is a cause of acute myeloid leukemia (AML). Translocation t(16;21)(p11;q22) with FUS. |
| Sequence similarities | Belongs to the ETS family. Contains 1 ETS DNA-binding domain. Contains 1 PNT (pointed) domain. |
Ontologies
Alternative products
| This entry describes 6 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform ERG-3 (identifier: P11308-3) 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 ERG-2 (identifier: P11308-1) The sequence of this isoform differs from the canonical sequence as follows: 232-255: Missing. | ||||||
| Isoform ERG-1 (identifier: P11308-2) The sequence of this isoform differs from the canonical sequence as follows: 1-99: Missing. | ||||||
| Isoform 5 (identifier: P11308-4) The sequence of this isoform differs from the canonical sequence as follows: 1-11: MIQTVPDPAAH → MAST | ||||||
| Isoform 7 (identifier: P11308-5) The sequence of this isoform differs from the canonical sequence as follows: 315-317: SGQ → WTQ 318-486: Missing. | ||||||
| Isoform 8 (identifier: P11308-6) The sequence of this isoform differs from the canonical sequence as follows: 256-325: DLPYEPPRRS...GQIQLWQFLL → GTKTPLCDLF...KTTLKELRAD 326-486: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||||||||||||||||
Molecule processing | |||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 486 | 486 | Transcriptional regulator ERG | PRO_0000204103 | |||||||||||||||||||||
Regions | |||||||||||||||||||||||||
| Domain | 120 – 206 | 87 | PNT | ||||||||||||||||||||||
| DNA binding | 318 – 398 | 81 | ETS | ||||||||||||||||||||||
Amino acid modifications | |||||||||||||||||||||||||
| Modified residue | 93 | 1 | Phosphoserine Ref.9 | ||||||||||||||||||||||
Natural variations | |||||||||||||||||||||||||
| Alternative sequence | 1 – 99 | 99 | Missing in isoform ERG-1. | VSP_001469 | |||||||||||||||||||||
| Alternative sequence | 1 – 11 | 11 | MIQTVPDPAAH → MAST in isoform 5. | VSP_026584 | |||||||||||||||||||||
| Alternative sequence | 232 – 255 | 24 | Missing in isoform ERG-2. | VSP_026579 | |||||||||||||||||||||
| Alternative sequence | 256 – 325 | 70 | DLPYE…WQFLL → GTKTPLCDLFIERHPRCPAE IRALSHVIQRELIPELKPVP DSLILPLLIWRLNPLKPFHS KTTLKELRAD in isoform 8. | VSP_026580 | |||||||||||||||||||||
| Alternative sequence | 315 – 317 | 3 | SGQ → WTQ in isoform 7. | VSP_026582 | |||||||||||||||||||||
| Alternative sequence | 318 – 486 | 169 | Missing in isoform 7. | VSP_026583 | |||||||||||||||||||||
| Alternative sequence | 326 – 486 | 161 | Missing in isoform 8. | VSP_026581 | |||||||||||||||||||||
Secondary structure | |||||||||||||||||||||||||
Helix Strand Turn | |||||||||||||||||||||||||
| Helix | 116 – 119 | 4 | |||||||||||||||||||||||
| Turn | 127 – 130 | 4 | |||||||||||||||||||||||
| Beta strand | 131 – 134 | 4 | |||||||||||||||||||||||
| Helix | 143 – 157 | 15 | |||||||||||||||||||||||
| Helix | 164 – 166 | 3 | |||||||||||||||||||||||
| Helix | 172 – 175 | 4 | |||||||||||||||||||||||
| Helix | 180 – 183 | 4 | |||||||||||||||||||||||
| Turn | 184 – 186 | 3 | |||||||||||||||||||||||
| Helix | 189 – 202 | 14 | |||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "erg, a human ets-related gene on chromosome 21: alternative splicing, polyadenylation, and translation." Rao V.N., Papas T.S., Shyam E., Reddy P. Science 237:635-639(1987) [PubMed: 3299708] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM ERG-2). |
| [2] | "The erg gene: a human gene related to the ets oncogene." Reddy E.S.P., Rao V.N., Papas T.S. Proc. Natl. Acad. Sci. U.S.A. 84:6131-6135(1987) [PubMed: 3476934] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ERG-1). |
| [3] | "Detailed mapping of the ERG-ETS2 interval of human chromosome 21 and comparison with the region of conserved synteny on mouse chromosome 16." Owczarek C.M., Portbury K.J., Hardy M.P., O'Leary D.A., Kudoh J., Shibuya K., Shimizu N., Kola I., Hertzog P.J. Gene 324:65-77(2004) [PubMed: 14693372] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7). |
| [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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 5 AND ERG-1). Tissue: Thymus. |
| [5] | "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 5). Tissue: Testis. |
| [6] | "Differentially spliced erg-3 product functions as a transcriptional activator." Prasad D.D., Rao V.N., Lee L., Reddy E.S. Oncogene 9:669-673(1994) [PubMed: 8290279] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 230-259 (ISOFORM ERG-3). |
| [7] | "ERG gene is translocated in an Ewing's sarcoma cell line." Dunn T., Praissman L., Hagag N., Viola M.V. Cancer Genet. Cytogenet. 76:19-22(1994) [PubMed: 8076344] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION. |
| [8] | "An RNA-binding protein gene, TLS/FUS, is fused to ERG in human myeloid leukemia with t(16;21) chromosomal translocation." Ichikawa H., Shimizu K., Hayashi Y., Ohki M. Cancer Res. 54:2865-2868(1994) [PubMed: 8187069] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION. |
| [9] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-93, MASS SPECTROMETRY. Tissue: Epithelium. |
| [10] | "Diversity in structure and function of the Ets family PNT domains." Mackereth C.D., Scharpf M., Gentile L.N., MacIntosh S.E., Slupsky C.M., McIntosh L.P. J. Mol. Biol. 342:1249-1264(2004) [PubMed: 15351649] [Abstract] Cited for: STRUCTURE BY NMR OF 112-208. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M17254 Genomic RNA. Translation: AAA52398.1. M21535 mRNA. Translation: AAA35811.1. AY204741 mRNA. Translation: AAP41719.1. AY204742 mRNA. Translation: AAP41720.1. AK300395 mRNA. Translation: BAG62127.1. AK303518 mRNA. Translation: BAG64546.1. BC040168 mRNA. Translation: AAH40168.1. S68130 mRNA. Translation: AAB29724.1. | |||||||||||||
| IPI | IPI00005012. IPI00217544. IPI00220990. IPI00549287. IPI00788647. IPI00853428. | ||||||||||||
| PIR | TVHUEG. A94294. | ||||||||||||
| RefSeq | NP_001129626.1. NP_001129627.1. NP_891548.1. | ||||||||||||
| UniGene | Hs.473819 | ||||||||||||
3D structure databases | |||||||||||||
| |||||||||||||
| SMR | P11308. Positions 289-386. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| IntAct | P11308. 1 interaction. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | P11308. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | P11308. | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENSG00000157554. Homo sapiens. [Contig view] | ||||||||||||
| GeneID | 2078. | ||||||||||||
| KEGG | hsa:2078. | ||||||||||||
Organism-specific databases | |||||||||||||
| GeneCards | GC21M038675. | ||||||||||||
| H-InvDB | HIX0027780. | ||||||||||||
| HGNC | HGNC:3446. ERG. | ||||||||||||
| HPA | CAB018377. | ||||||||||||
| MIM | 133450. gene+phenotype. 165080. gene. | ||||||||||||
| Orphanet | 1957. Esthesioneuroblastoma. 319. Ewing sarcoma. | ||||||||||||
| PharmGKB | PA27858. | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| HOVERGEN | P11308. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | P11308. | ||||||||||||
| Bgee | P11308. | ||||||||||||
| CleanEx | HS_ERG. | ||||||||||||
| GermOnline | ENSG00000157554. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR000418. Ets. IPR003118. SAM_PNT. IPR011991. Wing_hlx_DNA_bd. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 1 hit. | ||||||||||||
| Pfam | PF00178. Ets. 1 hit. PF02198. SAM_PNT. 1 hit. [Graphical view] | ||||||||||||
| PRINTS | PR00454. ETSDOMAIN. | ||||||||||||
| SMART | SM00413. ETS. 1 hit. SM00251. SAM_PNT. 1 hit. [Graphical view] | ||||||||||||
| PROSITE | PS00345. ETS_DOMAIN_1. 1 hit. PS00346. ETS_DOMAIN_2. 1 hit. PS50061. ETS_DOMAIN_3. 1 hit. PS51433. PNT. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other Resources | |||||||||||||
| NextBio | 8447. | ||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | ERG_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P11308 Secondary accession number(s): B4DTW5 Q8IXK9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 21 Human chromosome 21: entries, gene names and cross-references to MIM |
| 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


