Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
861
Gene name Gene Name - the full gene name approved by the HGNC.
RUNX family transcription factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RUNX1
Synonyms (NCBI Gene) Gene synonyms aliases
AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.12
Summary Summary of gene provided in NCBI Entrez Gene.
Core binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of norm
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs74315450 C>T Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs121912498 T>C Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs121912499 G>A,C,T Pathogenic, likely-pathogenic, likely-benign Non coding transcript variant, coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant
rs121912500 G>T Pathogenic, likely-benign Missense variant, non coding transcript variant, coding sequence variant
rs150042294 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Intron variant, missense variant, non coding transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003741 hsa-miR-17-5p Luciferase reporter assay 17589498
MIRT003742 hsa-miR-20a-5p Luciferase reporter assay, qRT-PCR, Western blot 17589498
MIRT003743 hsa-miR-106a-5p Luciferase reporter assay, qRT-PCR, Western blot 17589498
MIRT003741 hsa-miR-17-5p Luciferase reporter assay 17589498
MIRT003742 hsa-miR-20a-5p Luciferase reporter assay, qRT-PCR, Western blot 17589498
Transcription factors
Transcription factor Regulation Reference
CBFB Unknown 24648201
GATA1 Unknown 16628190
HLF Repression 11486032
L3MBTL1 Repression 18474616
PITX1 Repression 21425961
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 21873977
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 9199349
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP 9199349
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
151385 10471 ENSG00000159216
Protein
UniProt ID Q01196
Protein name Runt-related transcription factor 1 (Acute myeloid leukemia 1 protein) (Core-binding factor subunit alpha-2) (CBF-alpha-2) (Oncogene AML-1) (Polyomavirus enhancer-binding protein 2 alpha B subunit) (PEA2-alpha B) (PEBP2-alpha B) (SL3-3 enhancer factor 1 a
Protein function Forms the heterodimeric complex core-binding factor (CBF) with CBFB. RUNX members modulate the transcription of their target genes through recognizing the core consensus binding sequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within their r
PDB 1CMO , 1CO1 , 1E50 , 1H9D , 1LJM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00853 Runt 51 180 Runt domain Domain
PF08504 RunxI 362 453 Runx inhibition domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues examined except brain and heart. Highest levels in thymus, bone marrow and peripheral blood.
Sequence
MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPG
ELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNA
TAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHR

QKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASLNHSTAFNPQPQSQM
QDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDL
TAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPG
SSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLP
NQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY
Sequence length 453
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Myeloid Leukemia acute myeloid leukemia KAT2A inhibition demonstrated anti-AML activity by inducing myeloid differentiation and apoptosis. GenCC, CBGDA
Rheumatoid arthritis Rheumatoid arthritis GWAS
Eczema Eczema GWAS
Asthma Asthma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acute erythroleukemia Associate 9432044
Acute Radiation Syndrome Associate 15988144
Adenocarcinoma Associate 22143938, 35396535
Adenocarcinoma of Lung Associate 28926105
Alzheimer Disease Associate 37774680, 40037709
Anemia Associate 37160316
Anemia Aplastic Associate 33166403
Anodontia Associate 36321611
Aortic Aneurysm Abdominal Associate 25993293
Aortic Valve Stenosis Associate 37175670