KEGG   Homo sapiens (human): 2122
Entry
2122              CDS       T01001                                 
Symbol
MECOM, AML1-EVI-1, EVI1, KMT8E, MDS1, MDS1-EVI1, PRDM3, RUSAT2
Name
(RefSeq) MDS1 and EVI1 complex locus
  KO
K04462  [histone H3]-lysine9 N-methyltransferase (ecotropic virus integration site 1 protein) [EC:2.1.1.367]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa01100  Metabolic pathways
hsa04010  MAPK signaling pathway
hsa05200  Pathways in cancer
hsa05220  Chronic myeloid leukemia
Network
nt06218  TGFB signaling
nt06276  Chronic myeloid leukemia
  Element
N00107  EVI-1 overexpression to TGF-beta signaling pathway
Disease
H00004  Chronic myeloid leukemia
H00867  Radioulnar synostosis with amegakaryocytic thrombocytopenia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    2122 (MECOM)
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    2122 (MECOM)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    2122 (MECOM)
  09162 Cancer: specific types
   05220 Chronic myeloid leukemia
    2122 (MECOM)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    2122 (MECOM)
   03036 Chromosome and associated proteins [BR:hsa03036]
    2122 (MECOM)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.367  [histone H3]-lysine9 N-methyltransferase
     2122 (MECOM)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Zinc finger
   Cys2His2 PRDM
    2122 (MECOM)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HMTs (histone methyltransferases)
    HKMTs (histone lysine methyltransferases)
     2122 (MECOM)
SSDB
Motif
Pfam: zf-C2H2 zf-H2C2_2 zf-C2H2_4 zf-C2H2_6 zf-C2H2_jaz zf-H2C2_5 zf-BED zf-C2H2_11 Zn-ribbon_8 zf-C2H2_8 zf-met PyrI_C zinc_ribbon_15
Other DBs
NCBI-GeneID: 2122
NCBI-ProteinID: NP_004982
OMIM: 165215
HGNC: 3498
Ensembl: ENSG00000085276
Pharos: Q03112(Tbio)
UniProt: Q03112
Structure
LinkDB
Position
3:complement(169083507..169663712)
AA seq 1239 aa
MRSKGRARKLATNNECVYGNYPEIPLEEMPDADGVASTPSLNIQEPCSPATSSEAFTPKE
GSPYKAPIYIPDDIPIPAEFELRESNMPGAGLGIWTKRKIEVGEKFGPYVGEQRSNLKDP
SYGWEILDEFYNVKFCIDASQPDVGSWLKYIRFAGCYDQHNLVACQINDQIFYRVVADIA
PGEELLLFMKSEDYPHETMAPDIHEERQYRCEDCDQLFESKAELADHQKFPCSTPHSAFS
MVEEDFQQKLESENDLQEIHTIQECKECDQVFPDLQSLEKHMLSHTEEREYKCDQCPKAF
NWKSNLIRHQMSHDSGKHYECENCAKVFTDPSNLQRHIRSQHVGARAHACPECGKTFATS
SGLKQHKHIHSSVKPFICEVCHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSL
NKHRRFCEGKNHFAAGGFFGQGISLPGTPAMDKTSMVNMSHANPGLADYFGANRHPAGLT
FPTAPGFSFSFPGLFPSGLYHRPPLIPASSPVKGLSSTEQTNKSQSPLMTHPQILPATQD
ILKALSKHPSVGDNKPVELQPERSSEERPFEKISDQSESSDLDDVSTPSGSDLETTSGSD
LESDIESDKEKFKENGKMFKDKVSPLQNLASINNKKEYSNHSIFSPSLEEQTAVSGAVND
SIKAIASIAEKYFGSTGLVGLQDKKVGALPYPSMFPLPFFPAFSQSMYPFPDRDLRSLPL
KMEPQSPGEVKKLQKGSSESPFDLTTKRKDEKPLTPVPSKPPVTPATSQDQPLDLSMGSR
SRASGTKLTEPRKNHVFGGKKGSNVESRPASDGSLQHARPTPFFMDPIYRVEKRKLTDPL
EALKEKYLRPSPGFLFHPQFQLPDQRTWMSAIENMAEKLESFSALKPEASELLQSVPSMF
NFRAPPNALPENLLRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYRCKYCDRSFSI
SSNLQRHVRNIHNKEKPFKCHLCDRCFGQQTNLDRHLKKHENGNMSGTATSSPHSELEST
GAILDDKEDAYFTEIRNFIGNSNHGSQSPRNVEERMNGSHFKDEKALVTSQNSDLLDDEE
VEDEVLLDEEDEDNDITGKTGKEPVTSNLHEGNPEDDYEETSALEMSCKTSPVRYKEEEY
KSGLSALDHIRHFTDSLKMRKMEDNQYSEAELSSFSTSHVPEELKQPLHRKSKSQAYAMM
LSLSDKESLHSTSHSSSNVWHSMARAAAESSAIQSISHV
NT seq 3720 nt   +upstreamnt  +downstreamnt
atgagatccaaaggcagggcaaggaaactggccacaaataatgagtgtgtatatggcaac
taccctgaaatacctttggaagaaatgccagatgcagatggagtagccagcactccctcc
ctcaatattcaagagccatgctctcctgccacatccagtgaagcattcactccaaaggag
ggttctccttacaaagcccccatctacatccctgatgatatccccattcctgctgagttt
gaacttcgagagtcaaatatgcctggggcaggactaggaatatggaccaaaaggaagatc
gaagtaggtgaaaagtttgggccttatgtgggagagcagaggtcaaacctgaaagacccc
agttatggatgggagatcttagacgaattttacaatgtgaagttctgcatagatgccagt
caaccagatgttggaagctggctcaagtacattagattcgctggctgttatgatcagcac
aaccttgttgcatgccagataaatgatcagatattctatagagtagttgcagacattgcg
ccgggagaggagcttctgctgttcatgaagagcgaagactatccccatgaaactatggcg
ccggatatccacgaagaacggcaatatcgctgcgaagactgtgaccagctctttgaatct
aaggctgaactagcagatcaccaaaagtttccatgcagtactcctcactcagcattttca
atggttgaagaggactttcagcaaaaactcgaaagcgagaatgatctccaagagatacac
acgatccaggagtgtaaggaatgtgaccaagtttttcctgatttgcaaagcctggagaaa
cacatgctgtcacatactgaagagagggaatacaagtgtgatcagtgtcccaaggcattt
aactggaagtccaatttaattcgccaccagatgtcacatgacagtggaaagcactatgaa
tgtgaaaactgtgccaaggttttcacggaccctagcaaccttcagcggcacattcgctct
cagcatgtcggtgcccgggcccatgcatgcccggagtgtggcaaaacgtttgccacttcg
tcgggcctcaaacaacacaagcacatccacagcagtgtgaagccctttatctgtgaggtc
tgccataaatcctatactcagttttcaaacctttgccgtcataagcgcatgcatgctgat
tgcagaacccaaatcaagtgcaaagactgtggacaaatgttcagcactacgtcttcctta
aataaacacaggaggttttgtgagggcaagaaccattttgcggcaggtggattttttggc
caaggcatttcacttcctggaaccccagctatggataaaacgtccatggttaatatgagt
catgccaacccgggccttgctgactattttggcgccaataggcatcctgctggtcttacc
tttccaacagctcctggattttcttttagcttccctggtctgtttccttccggcttgtac
cacaggcctcctttgatacctgctagttctcctgttaaaggactatcaagtactgaacag
acaaacaaaagtcaaagtcccctcatgacacatcctcagatactgccagctacacaggat
attttgaaggcactatctaaacacccatctgtaggggacaataagccagtggagctccag
cccgagaggtcctctgaagagaggccctttgagaaaatcagtgaccagtcagagagtagt
gaccttgatgatgtcagtacaccaagtggcagtgacctggaaacaacctcgggctctgat
ctggaaagtgacattgaaagtgataaagagaaatttaaagaaaatggtaaaatgttcaaa
gacaaagtaagccctcttcagaatctggcttcaataaataataagaaagaatacagcaat
cattccattttctcaccatctttagaggagcagactgcggtgtcaggagctgtgaatgat
tctataaaggctattgcttctattgctgaaaaatactttggttcaacaggactggtgggg
ctgcaagacaaaaaagttggagctttaccttacccttccatgtttcccctcccatttttt
ccagcattctctcaatcaatgtacccatttcctgatagagacttgagatcgttacctttg
aaaatggaaccccaatcaccaggtgaagtaaagaaactgcagaagggcagctctgagtcc
ccctttgatctcaccactaagcgaaaggatgagaagcccttgactccagtcccctccaag
cctccagtgacacctgccacaagccaagaccagcccctggatctaagtatgggcagtagg
agtagagccagtgggacaaagctgactgagcctcgaaaaaaccacgtgtttgggggaaaa
aaaggaagcaacgtcgaatcaagacctgcttcagatggttccttgcagcatgcaagaccc
actcctttctttatggaccctatttacagagtagagaaaagaaaactaactgacccactt
gaagctttaaaagagaaatacttgaggccttctccaggattcttgtttcacccacaattc
caactgcctgatcagagaacttggatgtcagctattgaaaacatggcagaaaagctagag
agcttcagtgccctgaaacctgaggccagtgagctcttacagtcagtgccctctatgttc
aacttcagggcgcctcccaatgccctgccagagaaccttctgcggaagggaaaggagcgc
tatacctgcagatactgtggcaagatttttccaaggtctgcaaacctaacacggcacttg
agaacccacacaggagagcagccttacagatgcaaatactgtgacagatcatttagcata
tcttctaacttgcaaaggcatgttcgcaacatccacaataaagagaagccatttaagtgt
cacttatgtgataggtgttttggtcaacaaaccaatttagacagacacctaaagaaacat
gagaatgggaacatgtccggtacagcaacatcgtcgcctcattctgaactggaaagtaca
ggtgcgattctggatgacaaagaagatgcttacttcacagaaattcgaaatttcattggg
aacagcaaccatggcagccaatctcccaggaatgtggaggagagaatgaatggcagtcat
tttaaagatgaaaaggctttggtgaccagtcaaaattcagacttgctggatgatgaagaa
gttgaagatgaggtgttgttagatgaggaggatgaagacaatgatattactggaaaaaca
ggaaaggaaccagtgacaagtaatttacatgaaggaaaccctgaggatgactatgaagaa
accagtgccctggagatgagttgcaagacatccccagtgaggtataaagaggaagaatat
aaaagtggactttctgctctagatcatataaggcacttcacagatagcctcaaaatgagg
aaaatggaagataatcaatattctgaagctgagctgtcttcttttagtacttcccatgtg
ccagaggaacttaagcagccgttacacagaaagtccaaatcgcaggcatatgctatgatg
ctgtcactgtctgacaaggagtccctccattctacatcccacagttcttccaacgtgtgg
cacagtatggccagggctgcggcggaatccagtgctatccagtccataagccacgtatga

KEGG   Homo sapiens (human): 861
Entry
861               CDS       T01001                                 
Symbol
RUNX1, AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha
Name
(RefSeq) RUNX family transcription factor 1
  KO
K08367  runt-related transcription factor 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04530  Tight junction
hsa04659  Th17 cell differentiation
hsa05200  Pathways in cancer
hsa05202  Transcriptional misregulation in cancer
hsa05220  Chronic myeloid leukemia
hsa05221  Acute myeloid leukemia
Network
nt06218  TGFB signaling
nt06240  Transcription
nt06275  Acute myeloid leukemia
nt06276  Chronic myeloid leukemia
  Element
N00106  AML1-EVI1 fusion to TGF-beta signaling pathway
N00108  AML1-ETO fusion to transcriptional activtion
N00111  AML1-ETO fusion to CEBPA-mediated transcription
N00112  AML1-ETO fusion to PU.1-mediated transcription
N00116  Mutation-inactivated RUNX1 to transcription
N00118  TEL-AML1 fusion to transcriptional repression
Disease
H00001  B-cell acute lymphoblastic leukemia
H00003  Acute myeloid leukemia
H00004  Chronic myeloid leukemia
H00978  Thrombocytopenia (THC)
H01481  Myelodysplastic syndrome
H02410  Myelodysplastic/myeloproliferative neoplasms
H02411  Chronic myelomonocytic leukemia
H02412  Atypical chronic myeloid leukemia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04530 Tight junction
    861 (RUNX1)
 09150 Organismal Systems
  09151 Immune system
   04659 Th17 cell differentiation
    861 (RUNX1)
 09160 Human Diseases
  09161 Cancer: overview
   05200 Pathways in cancer
    861 (RUNX1)
   05202 Transcriptional misregulation in cancer
    861 (RUNX1)
  09162 Cancer: specific types
   05221 Acute myeloid leukemia
    861 (RUNX1)
   05220 Chronic myeloid leukemia
    861 (RUNX1)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    861 (RUNX1)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  beta-Scaffold factors with minor groove contacts
   Runt
    861 (RUNX1)
SSDB
Motif
Pfam: Runt RunxI DUF3037
Other DBs
NCBI-GeneID: 861
NCBI-ProteinID: NP_001001890
OMIM: 151385
HGNC: 10471
Ensembl: ENSG00000159216
Pharos: Q01196(Tbio)
UniProt: Q01196
Structure
LinkDB
Position
21:complement(34787801..35049302)
AA seq 453 aa
MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPG
ELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNA
TAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHR
QKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASLNHSTAFNPQPQSQM
QDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDL
TAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPG
SSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLP
NQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY
NT seq 1362 nt   +upstreamnt  +downstreamnt
atgcgtatccccgtagatgccagcacgagccgccgcttcacgccgccttccaccgcgctg
agcccaggcaagatgagcgaggcgttgccgctgggcgccccggacgccggcgctgccctg
gccggcaagctgaggagcggcgaccgcagcatggtggaggtgctggccgaccacccgggc
gagctggtgcgcaccgacagccccaacttcctctgctccgtgctgcctacgcactggcgc
tgcaacaagaccctgcccatcgctttcaaggtggtggccctaggggatgttccagatggc
actctggtcactgtgatggctggcaatgatgaaaactactcggctgagctgagaaatgct
accgcagccatgaagaaccaggttgcaagatttaatgacctcaggtttgtcggtcgaagt
ggaagagggaaaagcttcactctgaccatcactgtcttcacaaacccaccgcaagtcgcc
acctaccacagagccatcaaaatcacagtggatgggccccgagaacctcgaagacatcgg
cagaaactagatgatcagaccaagcccgggagcttgtccttttccgagcggctcagtgaa
ctggagcagctgcggcgcacagccatgagggtcagcccacaccacccagcccccacgccc
aaccctcgtgcctccctgaaccactccactgcctttaaccctcagcctcagagtcagatg
caggatacaaggcagatccaaccatccccaccgtggtcctacgatcagtcctaccaatac
ctgggatccattgcctctccttctgtgcacccagcaacgcccatttcacctggacgtgcc
agcggcatgacaaccctctctgcagaactttccagtcgactctcaacggcacccgacctg
acagcgttcagcgacccgcgccagttccccgcgctgccctccatctccgacccccgcatg
cactatccaggcgccttcacctactccccgacgccggtcacctcgggcatcggcatcggc
atgtcggccatgggctcggccacgcgctaccacacctacctgccgccgccctaccccggc
tcgtcgcaagcgcagggaggcccgttccaagccagctcgccctcctaccacctgtactac
ggcgcctcggccggctcctaccagttctccatggtgggcggcgagcgctcgccgccgcgc
atcctgccgccctgcaccaacgcctccaccggctccgcgctgctcaaccccagcctcccg
aaccagagcgacgtggtggaggccgagggcagccacagcaactcccccaccaacatggcg
ccctccgcgcgcctggaggaggccgtgtggaggccctactga

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