LOCUS NP_001230361 317 aa linear PRI 16-NOV-2023
DEFINITION transcriptional regulator ERG isoform 6 [Homo sapiens].
ACCESSION NP_001230361
VERSION NP_001230361.1
DBSOURCE REFSEQ: accession NM_001243432.2
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (residues 1 to 317)
AUTHORS Tang X, Huang J, Jiang Y, Qiu J, Li T, Li W, Chen Z, Huang Z, Yu X,
Yang T, Ji X, Tan R, Lv L, Yang Z and Chen H.
TITLE Intercellular adhesion molecule 2 as a novel prospective tumor
suppressor induced by ERG promotes ubiquitination-mediated radixin
degradation to inhibit gastric cancer tumorigenicity and metastasis
JOURNAL J Transl Med 21 (1), 670 (2023)
PUBMED 37759298
REMARK GeneRIF: Intercellular adhesion molecule 2 as a novel prospective
tumor suppressor induced by ERG promotes ubiquitination-mediated
radixin degradation to inhibit gastric cancer tumorigenicity and
metastasis.
Publication Status: Online-Only
REFERENCE 2 (residues 1 to 317)
AUTHORS Ding D, Blee AM, Zhang J, Pan Y, Becker NA, Maher LJ 3rd, Jimenez
R, Wang L and Huang H.
TITLE Gain-of-function mutant p53 together with ERG proto-oncogene drive
prostate cancer by beta-catenin activation and pyrimidine synthesis
JOURNAL Nat Commun 14 (1), 4671 (2023)
PUBMED 37537199
REMARK GeneRIF: Gain-of-function mutant p53 together with ERG
proto-oncogene drive prostate cancer by beta-catenin activation and
pyrimidine synthesis.
Publication Status: Online-Only
REFERENCE 3 (residues 1 to 317)
AUTHORS Schafer CM, Martin-Almedina S, Kurylowicz K, Dufton N,
Osuna-Almagro L, Wu ML, Johnson CF, Shah AV, Haskard DO, Buxton A,
Willis E, Wheeler K, Turner S, Chlebicz M, Scott RP, Kovats S,
Cleuren A, Birdsey GM, Randi AM and Griffin CT.
TITLE Cytokine-Mediated Degradation of the Transcription Factor ERG
Impacts the Pulmonary Vascular Response to Systemic Inflammatory
Challenge
JOURNAL Arterioscler Thromb Vasc Biol 43 (8), 1412-1428 (2023)
PUBMED 37317853
REMARK GeneRIF: Cytokine-Mediated Degradation of the Transcription Factor
ERG Impacts the Pulmonary Vascular Response to Systemic
Inflammatory Challenge.
REFERENCE 4 (residues 1 to 317)
AUTHORS Salles DC, Mendes AA, Han M, Partin AW, Trock BJ, Jing Y and Lotan
TL.
TITLE ERG Status at the Margin Is Associated With Biochemical Recurrence
After Radical Prostatectomy With Positive Surgical Margins
JOURNAL Mod Pathol 36 (7), 100147 (2023)
PUBMED 36828362
REMARK GeneRIF: ERG Status at the Margin Is Associated With Biochemical
Recurrence After Radical Prostatectomy With Positive Surgical
Margins.
REFERENCE 5 (residues 1 to 317)
AUTHORS Schandl CA, Mazzoni S, Znoyko I, Nahhas GJ, Chung D, Ding Y, Hess B
and Wolff DJ.
TITLE Novel high-risk acute myeloid leukemia subgroup with ERG
amplification and Biallelic loss of TP53
JOURNAL Cancer Genet 272-273, 23-28 (2023)
PUBMED 36657266
REMARK GeneRIF: Novel high-risk acute myeloid leukemia subgroup with ERG
amplification and Biallelic loss of TP53.
REFERENCE 6 (residues 1 to 317)
AUTHORS Zammarchi F, Boutsalis G and Cartegni L.
TITLE 5' UTR control of native ERG and of Tmprss2:ERG variants activity
in prostate cancer
JOURNAL PLoS One 8 (3), e49721 (2013)
PUBMED 23472063
REMARK GeneRIF: characterization of native ERG and Tmprss2:ERG variants
reveals that their different oncogenic potential is affected by the
status of the Ets domain and the configuration of the 5' UTR region
REFERENCE 7 (residues 1 to 317)
AUTHORS Peterson A, Patil N, Robbins C, Wang L, Cox DR and Myers RM.
TITLE A transcript map of the Down syndrome critical region on chromosome
21
JOURNAL Hum Mol Genet 3 (10), 1735-1742 (1994)
PUBMED 7849696
REFERENCE 8 (residues 1 to 317)
AUTHORS Rao VN, Modi WS, Drabkin HD, Patterson D, O'Brien SJ, Papas TS and
Reddy ES.
TITLE The human erg gene maps to chromosome 21, band q22: relationship to
the 8; 21 translocation of acute myelogenous leukemia
JOURNAL Oncogene 3 (5), 497-500 (1988)
PUBMED 3274086
REFERENCE 9 (residues 1 to 317)
AUTHORS Reddy,E.S., Rao,V.N. and Papas,T.S.
TITLE The erg gene: a human gene related to the ets oncogene
JOURNAL Proc Natl Acad Sci U S A 84 (17), 6131-6135 (1987)
PUBMED 3476934
REFERENCE 10 (residues 1 to 317)
AUTHORS Rao,V.N., Papas,T.S. and Reddy,E.S.
TITLE erg, a human ets-related gene on chromosome 21: alternative
splicing, polyadenylation, and translation
JOURNAL Science 237 (4815), 635-639 (1987)
PUBMED 3299708
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DC356222.1 and AY204741.1.
Summary: This gene encodes a member of the erythroblast
transformation-specific (ETS) family of transcriptions factors. All
members of this family are key regulators of embryonic development,
cell proliferation, differentiation, angiogenesis, inflammation,
and apoptosis. The protein encoded by this gene is mainly expressed
in the nucleus. It contains an ETS DNA-binding domain and a PNT
(pointed) domain which is implicated in the self-association of
chimeric oncoproteins. This protein is required for platelet
adhesion to the subendothelium, inducing vascular cell remodeling.
It also regulates hematopoesis, and the differentiation and
maturation of megakaryocytic cells. This gene is involved in
chromosomal translocations, resulting in different fusion gene
products, such as TMPSSR2-ERG and NDRG1-ERG in prostate cancer,
EWS-ERG in Ewing's sarcoma and FUS-ERG in acute myeloid leukemia.
More than two dozens of transcript variants generated from
combinatorial usage of three alternative promoters and multiple
alternative splicing events have been reported, but the full-length
nature of many of these variants has not been determined. [provided
by RefSeq, Apr 2014].
Transcript Variant: This variant (7) differs in the 3' exon,
compared to variant 3. The resulting protein (isoform 6) has a
shorter and distinct C-terminus, when it is compared to isoform 3.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AY204741.1 [ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1965299,
SAMEA1966682 [ECO:0006172]
##Evidence-Data-END##
##RefSeq-Attributes-START##
regulatory uORF :: PMID: 23472063
##RefSeq-Attributes-END##
FEATURES Location/Qualifiers
source 1..317
/organism="Homo sapiens"
/db_xref="taxon:9606"
/chromosome="21"
/map="21q22.2"
Protein 1..317
/product="transcriptional regulator ERG isoform 6"
/note="v-ets avian erythroblastosis virus E26 oncogene
related; ets-related; ERG, ETS transcription factor;
FUS/ERG fusion protein; v-ets erythroblastosis virus E26
oncogene like; transcriptional regulator ERG (transforming
protein ERG); TMPRSS2/ERG fusion; v-ets erythroblastosis
virus E26 oncogene homolog; v-ets avian erythroblastosis
virus E26 oncogene homolog"
/calculated_mol_wt=35155
Region 134..208
/region_name="SAM_PNT-ERG"
/note="Sterile alpha motif (SAM)/Pointed domain of ERG
transcription factor; cd08540"
/db_xref="CDD:176090"
CDS 1..317
/gene="ERG"
/gene_synonym="erg-3; LMPHM14; p55"
/coded_by="NM_001243432.2:273..1226"
/note="isoform 6 is encoded by transcript variant 7"
/db_xref="GeneID:2078"
/db_xref="HGNC:HGNC:3446"
/db_xref="MIM:165080"
ORIGIN
1 miqtvpdpaa hikealsvvs edqslfecay gtphlaktem tassssdygq tskmsprvpq
61 qdwlsqppar vtikmecnps qvngsrnspd ecsvakggkm vgspdtvgmn ygsymeekhm
121 pppnmttner rvivpadptl wstdhvrqwl ewavkeyglp dvnillfqni dgkelckmtk
181 ddfqrltpsy nadillshlh ylretplphl tsddvdkalq nsprlmharn tggaafifpn
241 tsvypeatqr ittrpdlpye pprrsawtgh ghptpqskaa qpspstvpkt edqrpqldpy
301 qilgptssrl anpgwtq
//