Gene Set: V$AML_Q6

Standard name V$AML_Q6
Systematic name M12818
Brief description Genes with promoter regions [-2kb,2kb] around transcription start site containing the motif NNGKNTGTGGTTWNC which matches annotation for RUNX1: runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)
Full description or abstract XX
XX
XX
FA AML3b
XX
SY PEBP2alpha1; Osf2; PEBP2alphaA; CBF-alpha 1; RUNX2.
XX
OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia;
OC eutheria; primates
XX
XX
CL C0029; runt.
XX
SZ 521 AA; 56.6 kDa (cDNA)
XX
XX
SC translated from EMBL #AF001450
XX
FT 49 71 glutamine-rich region (23/23).
FT 73 89 alanine-rich region (17/17).
FT 99 233 PF00853; Runt.
FT 101 228 runt domain.
FT 237 517 proline-/serine-/threonine-rich region (121/280).
FT 396 422 putative nuclear matrix targeting signal [2].
FT 517 521 VWRPY motif / Groucho-homology.
XX
SF factor was found to be associated with the nuclear matrix [2]
XX
FF related to human cleidocranial dysplasia (CCD) [1] [3];
FF mapped to chromosome region 6p21 [1];
FF essential for skeletal morphogenesis [1];
XX
XX
XX
RN [1]; RE0005889.
RX MEDLINE; 97325753.
RA Mundlos S., Otto F., Mundlos C., Mulliken J. B., Aylsworth A. S., Albright
RA S., Lindhout D., Cole W. G., Henn W., Knoll J. H. M., Owen M. J.,
RA Mertelsmann R., Zabel B. U., Olsen B. R.
RT Mutations involving the transcription factor CBFA1 cause cleidocranial
RT dysplasia
RL Cell 89:773-779 (1997).
RN [2]; RE0006488.
RX MEDLINE; 97338089.
RA Zeng C., van Wijnen A. J., Stein J. L., Meyers S., Sun W., Shopland L.,
RA Lawrence J. B., Penman S., Lian J.B., Stein G. S., Hiebert S. W.
RT Identification of a nuclear matrix targeting signal in leukemia and
RT bone-related AML/CBF-alpha transcription factors
RL Proc. Natl. Acad. Sci. USA 94:6746-6751 (1997).
RN [3]; RE0015248.
RX MEDLINE; 97351518.
RA Lee B., Thirunavukkarasu K., Zhou L., Pastore L., Baldini A., Hecht J.,
RA Geoffroy V., Ducy P., Karsenty G.
RT Missense mutations abolishing DNA binding of the osteoblast-specific
RT transcription factor OSF2/CBFA1 in cleidocranial dysplasia
RL Nat. Genet. 16:307-310 (1997).
XX
Collection C3: motif gene sets
      TFT: transcription factor targets
Source publication  
Exact source  
Related gene sets  
External links  
Organism Homo sapiens
Contributed by Xiaohui Xie (Broad Institute)
Source platform HUMAN_GENE_SYMBOL
Dataset references  
Download gene set format: grp | text | gmt | gmx | xml
Compute overlaps C1: positional gene sets
C2: curated gene sets
      CGP: chemical and genetic perturbations
      CP: canonical pathways
            CP:BIOCARTA: BioCarta gene sets
            CP:KEGG: KEGG gene sets
            CP:REACTOME: Reactome gene sets
C3: motif gene sets
      MIR: microRNA targets
      TFT: transcription factor targets
C4: computational gene sets
      CGN: cancer gene neighborhoods
      CM: cancer modules
C5: GO gene sets
      BP: GO biological process
      CC: GO cellular component
      MF: GO molecular function
Compendia expression profiles Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 204 genes
Gene families Categorize these 204 genes by gene family
Show members (show 272 members mapped to 204 genes)
Version history