EVI1
entrez
2122
canonical
uniprot
Q03112
canonical
ensembl
ENSG00000085276
resolver
ensp
ENSP00000264674
resolver
ensp
ENSP00000394302
resolver
ensp
ENSP00000417899
resolver
ensp
ENSP00000419770
resolver
ensp
ENSP00000419995
resolver
ensp
ENSP00000420048
resolver
ensp
ENSP00000420466
resolver
ensp
ENSP00000486104
resolver
ensp
ENSP00000498411
resolver
enst
ENST00000433243
resolver
enst
ENST00000472280
resolver
genesymbol
EVI1
resolver
genesymbol
MECOM
resolver
genesymbol_syn
EVI1
resolver
genesymbol_syn
MDS1
resolver
genesymbol_syn
PRDM3
resolver
hgnc
HGNC:3498
resolver
uniprot
A0A0C3SFZ7
resolver
uniprot
A1L4F3
resolver
uniprot
A8KA00
resolver
uniprot
B7Z8W7
resolver
uniprot
B7ZLQ3
resolver
uniprot
B7ZLQ4
resolver
uniprot
C7FEN9
resolver
uniprot
C9JAK0
resolver
uniprot
D3DNP7
resolver
uniprot
E7EQ57
resolver
uniprot
Q13465
resolver
uniprot
Q13466
resolver
uniprot
Q16122
resolver
uniprot
Q5HYI1
resolver
uniprot
Q6FH90
resolver
uniprot
Q6MZS6
resolver
uniprot
Q8NEI5
resolver
uniprot
Q99917
resolver
uniprot_entry
A0A0C3SFZ7_HUMAN
resolver
uniprot_entry
C7FEN9_HUMAN
resolver
uniprot_entry
MECOM_HUMAN
resolver
uniprot_sec
A1L4F3
resolver
uniprot_sec
A8KA00
resolver
uniprot_sec
B7Z8W7
resolver
uniprot_sec
B7ZLQ3
resolver
uniprot_sec
B7ZLQ4
resolver
uniprot_sec
C9JAK0
resolver
uniprot_sec
D3DNP7
resolver
uniprot_sec
E7EQ57
resolver
uniprot_sec
Q13465
resolver
uniprot_sec
Q13466
resolver
uniprot_sec
Q16122
resolver
uniprot_sec
Q5HYI1
resolver
uniprot_sec
Q6FH90
resolver
uniprot_sec
Q6MZS6
resolver
uniprot_sec
Q8NEI5
resolver
uniprot_sec
Q99917
resolver
amino_acid_sequence
MRSKGRARKLATNNECVYGNYPEIPLEEMPDADGVASTPSLNIQEPCSPATSSEAFTPKEGSPYKAPIYIPDDIPIPAEFELRESNMPGAGLGIWTKRKIEVGEKFGPYVGEQRSNLKDPSYGWEILDEFYNVKFCIDASQPDVGSWLKYIRFAGCYDQHNLVACQINDQIFYRVVADIAPGEELLLFMKSEDYPHETMAPDIHEERQYRCEDCDQLFESKAELADHQKFPCSTPHSAFSMVEEDFQQKLESENDLQEIHTIQECKECDQVFPDLQSLEKHMLSHTEEREYKCDQCPKAFNWKSNLIRHQMSHDSGKHYECENCAKVFTDPSNLQRHIRSQHVGARAHACPECGKTFATSSGLKQHKHIHSSVKPFICEVCHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSLNKHRRFCEGKNHFAAGGFFGQGISLPGTPAMDKTSMVNMSHANPGLADYFGANRHPAGLTFPTAPGFSFSFPGLFPSGLYHRPPLIPASSPVKGLSSTEQTNKSQSPLMTHPQILPATQDILKALSKHPSVGDNKPVELQPERSSEERPFEKISDQSESSDLDDVSTPSGSDLETTSGSDLESDIESDKEKFKENGKMFKDKVSPLQNLASINNKKEYSNHSIFSPSLEEQTAVSGAVNDSIKAIASIAEKYFGSTGLVGLQDKKVGALPYPSMFPLPFFPAFSQSMYPFPDRDLRSLPLKMEPQSPGEVKKLQKGSSESPFDLTTKRKDEKPLTPVPSKPPVTPATSQDQPLDLSMGSRSRASGTKLTEPRKNHVFGGKKGSNVESRPASDGSLQHARPTPFFMDPIYRVEKRKLTDPLEALKEKYLRPSPGFLFHPQMSAIENMAEKLESFSALKPEASELLQSVPSMFNFRAPPNALPENLLRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCDRCFGQQTNLDRHLKKHENGNMSGTATSSPHSELESTGAILDDKEDAYFTEIRNFIGNSNHGSQSPRNVEERMNGSHFKDEKALVTSQNSDLLDDEEVEDEVLLDEEDEDNDITGKTGKEPVTSNLHEGNPEDDYEETSALEMSCKTSPVRYKEEEYKSGLSALDHIRHFTDSLKMRKMEDNQYSEAELSSFSTSHVPEELKQPLHRKSKSQAYAMMLSLSDKESLHSTSHSSSNVWHSMARAAAESSAIQSISHV
uniprot
proteins
disease_involvement
DISEASE: Note=A chromosomal aberration involving EVI1 is a cause of chronic myelogenous leukemia (CML). Translocation t(3;21)(q26;q22) with RUNX1/AML1. {ECO:0000269|PubMed:8313895}.; DISEASE: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 (RUSAT2) [MIM:616738]: An autosomal dominant disease characterized by proximal fusion of the radius and ulna resulting in extremely limited pronation and supination of the forearm, and congenital thrombocytopenia that progresses to pancytopenia. {ECO:0000269|PubMed:26581901}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving MDS1 is found in a form of acute myeloid leukemia (AML). Translocation t(3;21) with AML1. {ECO:0000269|PubMed:8643684}.
uniprot
proteins
ec_number
2.1.1.367
uniprot
proteins
function
FUNCTION: [Isoform 1]: Functions as a transcriptional regulator binding to DNA sequences in the promoter region of target genes and regulating positively or negatively their expression. Oncogene which plays a role in development, cell proliferation and differentiation. May also play a role in apoptosis through regulation of the JNK and TGF-beta signaling. Involved in hematopoiesis. {ECO:0000269|PubMed:10856240, ECO:0000269|PubMed:11568182, ECO:0000269|PubMed:15897867, ECO:0000269|PubMed:16462766, ECO:0000269|PubMed:19767769, ECO:0000269|PubMed:9665135}.; FUNCTION: [Isoform 7]: Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1). Probably catalyzes the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyze histone H3 'Lys-9' trimethylation. Likely to be one of the primary histone methyltransferases along with PRDM16 that direct cytoplasmic H3K9me1 methylation. {ECO:0000250|UniProtKB:P14404}.
uniprot
proteins
mass_dalton
138136
uniprot
proteins
mutagenesis
MUTAGEN 743..744; /note="DL->AS: Partial loss of interaction with CTBP1. Loss of interaction with CTBP1; when associated with 586-A-S-775."; /evidence="ECO:0000269|PubMed:11568182"; MUTAGEN 774..775; /note="DL->AS: Partial loss of interaction with CTBP1. Loss of interaction with CTBP1; when associated with 555-A-S-744."; /evidence="ECO:0000269|PubMed:11568182
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000250}.; PTM: May be acetylated by CREBBP and KAT2B. {ECO:0000269|PubMed:11568182}.
uniprot
proteins
pubmed
10856240
uniprot
proteins
pubmed
11050005
uniprot
proteins
pubmed
11568182
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15897867
uniprot
proteins
pubmed
16462766
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
19767769
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
2115646
uniprot
proteins
pubmed
22939622
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25218447
uniprot
proteins
pubmed
25772364
uniprot
proteins
pubmed
26581901
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
30462309
uniprot
proteins
pubmed
8313895
uniprot
proteins
pubmed
8643684
uniprot
proteins
pubmed
8700545
uniprot
proteins
pubmed
9665135
uniprot
proteins
sequence_length
1230
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11568182, ECO:0000269|PubMed:15897867, ECO:0000269|PubMed:9665135}. Nucleus speckle {ECO:0000269|PubMed:11568182}. Cytoplasm {ECO:0000269|PubMed:22939622}.
uniprot
proteins