(data stored in ACNUC14376 zone)

HOGENOM: HS7_PE464

ID   HS7_PE464                            STANDARD;      PRT;   477 AA.
AC   HS7_PE464;
DT   00-JAN-0000 (Rel. 1, Created)
DT   00-JAN-0000 (Rel. 2, Last sequence update)
DT   00-JAN-0000 (Rel. 3, Last annotation update)
DE   RecName: Full=ETS translocation variant 1;AltName: Full=Ets-related
DE   protein 81; (HS7.PE464).
GN   Name=ETV1; Synonyms=ER81;
OS   HOMO SAPIENS.
OC   Eukaryota; Metazoa; Eumetazoa; Bilateria; Coelomata; Deuterostomia;
OC   Chordata; Craniata; Vertebrata; Gnathostomata; Teleostomi; Euteleostomi;
OC   Sarcopterygii; Tetrapoda; Amniota; Mammalia; Theria; Eutheria;
OC   Euarchontoglires; Primates; Haplorrhini; Simiiformes; Catarrhini;
OC   Hominoidea; Hominidae; Homininae; Homo.
OX   NCBI_TaxID=9606;
RN   [0]
RP   -.;
RG   -.;
RL   -.;
CC   -!- SEQ. DATA ORIGIN: Translated from the HOGENOM CDS HS7.PE464.
CC       Homo sapiens chromosome 7 GRCh37  sequence 1..159128663 annotated by
CC       Ensembl
CC   -!- ANNOTATIONS ORIGIN:ETV1_HUMAN
CC   -!- FUNCTION: Transcriptional activator that binds to DNA sequences
CC       containing the consensus pentanucleotide 5'-CGGA[AT]-3'.
CC   -!- SUBCELLULAR LOCATION: Nucleus (Probable).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=P50549-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=P50549-2; Sequence=VSP_001472;
CC   -!- TISSUE SPECIFICITY: Very highly expressed in brain, highly
CC       expressed in testis, lung and heart, moderately in spleen, small
CC       intestine, pancreas and colon, weakly in liver, prostate and
CC       thymus, very weakly in skeletal muscle, kidney and ovary and not
CC       in placenta and peripheral blood leukocytes.
CC   -!- PTM: Sumoylated.
CC   -!- DISEASE: Defects in ETV1 are a cause of Ewing sarcoma (ES)
CC       [MIM:612219]. A highly malignant, metastatic, primitive small
CC       round cell tumor of bone and soft tissue that affects children and
CC       adolescents. It belongs to the Ewing sarcoma family of tumors, a
CC       group of morphologically heterogeneous neoplasms that share the
CC       same cytogenetic features. They are considered neural tumors
CC       derived from cells of the neural crest. Ewing sarcoma represents
CC       the less differentiated form of the tumors. Note=A chromosomal
CC       aberration involving ETV1 is found in patients with Erwing
CC       sarcoma. Translocation t(7;22)(p22;q12) with EWSR1.
CC   -!- SIMILARITY: Belongs to the ETS family.
CC   -!- SIMILARITY: Contains 1 ETS DNA-binding domain.
CC   -!- GENE_FAMILY: HOG000230986 [ FAMILY / ALN / TREE ]
DR   HOGENOM:Homo_sapiens;ENSG00000006468;ENST00000430479;ENSP00000405327.
DR   EMBL; AC004857; - ;
DR   EMBL; AC004909; - ;
DR   EMBL; AF109621; - ;
DR   EMBL; AF109622; - ;
DR   EMBL; AF109623; - ;
DR   EMBL; AF109624; - ;
DR   EMBL; AF109625; - ;
DR   EMBL; AF109626; - ;
DR   EMBL; AF109627; - ;
DR   EMBL; AF109628; - ;
DR   EMBL; AF109629; - ;
DR   EMBL; AF109630; - ;
DR   EMBL; AF109631; - ;
DR   EMBL; AF109632; - ;
DR   EMBL; AK294755; - ;
DR   EMBL; AK312863; - ;
DR   EMBL; BC098403; - ;
DR   EMBL; BC106762; - ;
DR   EMBL; BC106763; - ;
DR   EMBL; CH236948; - ;
DR   EMBL; U17163; - ;
DR   EMBL; X87175; - ;
DR   UniProtKB/Swiss-Prot; P50549; A4D118; B2R768; B7Z2I4; O75849; Q4KMQ6; Q9UQ71; Q9Y636; -.
DR   EMBL; U17163; AAA79844.1; -; mRNA.
DR   EMBL; X87175; CAA60642.1; -; mRNA.
DR   EMBL; AF109632; AAD29877.1; -; Genomic_DNA.
DR   EMBL; AF109621; AAD29877.1; JOINED; Genomic_DNA.
DR   EMBL; AF109622; AAD29877.1; JOINED; Genomic_DNA.
DR   EMBL; AF109623; AAD29877.1; JOINED; Genomic_DNA.
DR   EMBL; AF109624; AAD29877.1; JOINED; Genomic_DNA.
DR   EMBL; AF109625; AAD29877.1; JOINED; Genomic_DNA.
DR   EMBL; AF109626; AAD29877.1; JOINED; Genomic_DNA.
DR   EMBL; AF109627; AAD29877.1; JOINED; Genomic_DNA.
DR   EMBL; AF109628; AAD29877.1; JOINED; Genomic_DNA.
DR   EMBL; AF109629; AAD29877.1; JOINED; Genomic_DNA.
DR   EMBL; AF109630; AAD29877.1; JOINED; Genomic_DNA.
DR   EMBL; AF109631; AAD29877.1; JOINED; Genomic_DNA.
DR   EMBL; AF109632; AAD29878.1; -; Genomic_DNA.
DR   EMBL; AF109621; AAD29878.1; JOINED; Genomic_DNA.
DR   EMBL; AF109622; AAD29878.1; JOINED; Genomic_DNA.
DR   EMBL; AF109623; AAD29878.1; JOINED; Genomic_DNA.
DR   EMBL; AF109625; AAD29878.1; JOINED; Genomic_DNA.
DR   EMBL; AF109626; AAD29878.1; JOINED; Genomic_DNA.
DR   EMBL; AF109627; AAD29878.1; JOINED; Genomic_DNA.
DR   EMBL; AF109628; AAD29878.1; JOINED; Genomic_DNA.
DR   EMBL; AF109629; AAD29878.1; JOINED; Genomic_DNA.
DR   EMBL; AF109630; AAD29878.1; JOINED; Genomic_DNA.
DR   EMBL; AF109631; AAD29878.1; JOINED; Genomic_DNA.
DR   EMBL; AK294755; BAH11870.1; -; mRNA.
DR   EMBL; AK312863; BAG35715.1; -; mRNA.
DR   EMBL; AC004857; AAC62435.1; -; Genomic_DNA.
DR   EMBL; CH236948; EAL24294.1; -; Genomic_DNA.
DR   EMBL; BC098403; AAH98403.1; -; mRNA.
DR   EMBL; BC106762; AAI06763.1; -; mRNA.
DR   EMBL; BC106763; AAI06764.1; -; mRNA.
DR   IPI; IPI00221065; -.
DR   IPI; IPI00306430; -.
DR   PIR; I38893; I38893.
DR   RefSeq; NP_001156619.1; NM_001163147.1.
DR   RefSeq; NP_001156620.1; NM_001163148.1.
DR   RefSeq; NP_001156621.1; NM_001163149.1.
DR   RefSeq; NP_004947.2; NM_004956.4.
DR   UniGene; Hs.22634; -.
DR   ProteinModelPortal; P50549; -.
DR   SMR; P50549; 329-450.
DR   STRING; P50549; -.
DR   PhosphoSite; P50549; -.
DR   PRIDE; P50549; -.
DR   Ensembl; ENST00000242066; ENSP00000242066; ENSG00000006468.
DR   Ensembl; ENST00000343495; ENSP00000340853; ENSG00000006468.
DR   Ensembl; ENST00000403685; ENSP00000385686; ENSG00000006468.
DR   Ensembl; ENST00000430479; ENSP00000405327; ENSG00000006468.
DR   GeneID; 2115; -.
DR   KEGG; hsa:2115; -.
DR   CTD; 2115; -.
DR   GeneCards; GC07M013813; -.
DR   H-InvDB; HIX0006492; -.
DR   HGNC; HGNC:3490; ETV1.
DR   MIM; 600541; gene.
DR   MIM; 612219; phenotype.
DR   neXtProt; NX_P50549; -.
DR   Orphanet; 319; Ewing sarcoma.
DR   eggNOG; prNOG18081; -.
DR   GeneTree; ENSGT00600000083997; -.
DR   OrthoDB; EOG45X7W5; -.
DR   Pathway_Interaction_DB; p38_mk2pathway; p38 signaling mediated by MAPKAP kinases.
DR   NextBio; 8547; -.
DR   ArrayExpress; P50549; -.
DR   Bgee; P50549; -.
DR   CleanEx; HS_ETV1; -.
DR   Genevestigator; P50549; -.
DR   GermOnline; ENSG00000006468; Homo sapiens.
DR   GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR   GO; GO:0043565; F:sequence-specific DNA binding; IEA:InterPro.
DR   GO; GO:0003700; F:sequence-specific DNA binding transcription factor activity; TAS:ProtInc.
DR   GO; GO:0006366; P:transcription from RNA polymerase II promoter; TAS:ProtInc.
DR   InterPro; IPR000418; Ets.
DR   InterPro; IPR006715; ETS_PEA3_N.
DR   InterPro; IPR011991; WHTH_trsnscrt_rep_DNA-bd.
DR   Gene3D; G3DSA:1.10.10.10; Wing_hlx_DNA_bd; 1.
DR   Pfam; PF00178; Ets; 1.
DR   Pfam; PF04621; ETS_PEA3_N; 1.
DR   PRINTS; PR00454; ETSDOMAIN.
DR   SMART; SM00413; ETS; 1.
DR   PROSITE; PS00345; ETS_DOMAIN_1; 1.
DR   PROSITE; PS00346; ETS_DOMAIN_2; 1.
DR   PROSITE; PS50061; ETS_DOMAIN_3; 1.
DR   HOGENOMDNA; HS7.PE464; -.
KW   ENSG000000064681755old_1320000031; ENSP000004053277901old_1320000031;
KW   C9J0B7_HUMAN; C9J4P4_HUMAN; C9J9L1_HUMAN; AC004857; AC004909; AF109621;
KW   AF109623; AF109624; AF109625; AF109626; AF109627; AF109628; AF109629;
KW   AF109631; AF109632; AK294755; AK312863; BC098403; BC106762; BC106763;
KW   U17163; X87175;
KW   Activator; Alternative splicing; Chromosomal rearrangement;
KW   Complete proteome; DNA-binding; Nucleus; Polymorphism; Proto-oncogene;
KW   Reference proteome; Transcription; Transcription regulation;
KW   Ubl conjugation.
SQ   SEQUENCE   477 AA;  UNKNOWN MW;  UNKNOWN CRC64;
     MDGFYDQQVP YMVTNSQRGR NCNEKPTNVR KRKFINRDLA HDSEELFQDL SQLQETWLAE
     AQVPDNDEQF VPDYQAESLA FHGLPLKIKK EPHSPCSEIS SACSQEQPFK FSYGEKCLYN
     VSAYDQKPQV GMRPSNPPTP SSTPVSPLHH ASPNSTHTPK PDRAFPAHLP PSQSIPDSSY
     PMDHRFRRQL SEPCNSFPPL PTMPREGRPM YQRQMSEPNI PFPPQGFKQE YHDPVYEHNT
     MVGSAASQSF PPPLMIKQEP RDFAYDSEVP SCHSIYMRQE GFLAHPSRTE GCMFEKGPRQ
     FYDDTCVVPE KFDGDIKQEP GMYREGPTYQ RRGSLQLWQF LVALLDDPSN SHFIAWTGRG
     MEFKLIEPEE VARRWGIQKN RPAMNYDKLS RSLRYYYEKG IMQKVAGERY VYKFVCDPEA
     LFSMAFPDNQ RPLLKTDMER HINEEDTVPL SHFDESMAYM PEGGCCNPHP YNEGYVY
//

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