KEGG   Homo sapiens (human): 861
Entry
861               CDS       T01001                                 

Gene name
RUNX1, AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha
Definition
(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
Vega: OTTHUMG00000086299
Pharos: Q01196(Tbio)
UniProt: Q01196
Structure
PDB: 
1LJM 1H9D 1E50 1CO1 1CMO

Position
21q22.12
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Pathway (6)   
   KEGG PATHWAY (6)   
Network (6)   
   KEGG NETWORK (6)   
Disease (11)   
   KEGG DISEASE (8)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (11)   
   KEGG ORTHOLOGY (1)   
   RefGene (3)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (12)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (87)   
   RefSeq(nuc) (11)   
   GenBank (38)   
   EMBL (38)   
Protein domain (3)   
   Pfam (3)   
All databases (139)   

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