Gene Gene information from NCBI Gene database.
Entrez ID 861
Gene name RUNX family transcription factor 1
Gene symbol RUNX1
Synonyms (NCBI Gene)
AML1AML1-EVI-1AMLCR1CBF2alphaCBFA2EVI-1PEBP2aBPEBP2alpha
Chromosome 21
Chromosome location 21q22.12
Summary 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.
40
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.
780
miRTarBase ID miRNA Experiments Reference
MIRT003741 hsa-miR-17-5p Luciferase reporter assay 17589498
MIRT003742 hsa-miR-20a-5p Luciferase reporter assayqRT-PCRWestern blot 17589498
MIRT003743 hsa-miR-106a-5p Luciferase reporter assayqRT-PCRWestern blot 17589498
MIRT003741 hsa-miR-17-5p Luciferase reporter assay 17589498
MIRT003742 hsa-miR-20a-5p Luciferase reporter assayqRT-PCRWestern blot 17589498
Transcription factors Transcription factors information provided by TRRUST V2 database.
9
Transcription factor Regulation Reference
CBFB Unknown 24648201
GATA1 Unknown 16628190
HLF Repression 11486032
L3MBTL1 Repression 18474616
PITX1 Repression 21425961
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
63
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 cis-regulatory region 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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
151385 10471 ENSG00000159216
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3039
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal bleeding Pathogenic; Likely pathogenic rs1569061762, rs1569061786, rs2057541324, rs1601515718, rs1060502579, rs2057998110 RCV001270615
RCV001270576
RCV001270495
RCV001270488
RCV001270534
RCV001270532
Abnormal platelet function Pathogenic rs1057519751 RCV000851801
Acute myeloid leukemia Pathogenic; Likely pathogenic rs2057541271, rs2145875208, rs759068561, rs1601516118, rs2517440416, rs2517038098, rs1057519750, rs1569084170, rs1601515707, rs1569084106, rs1601333612, rs2058002908 RCV001312236
RCV001376148
RCV005032022
RCV003465901
RCV003228178
RCV004574808
RCV000426735
RCV002499199
RCV002495048
RCV002279704
RCV003234570
RCV005038017
Atypical chronic myeloid leukemia, BCR-ABL1 negative Likely pathogenic rs2516817630 RCV003232902
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aggressive systemic mastocytosis Uncertain significance rs202068364, rs2056451534 RCV005365328
RCV005367803
Anaplastic ependymoma Likely benign rs200431130 RCV000761084
Castleman-Kojima disease Uncertain significance rs561166961 RCV000824697
Colon adenocarcinoma Benign rs59802347 RCV005895255
Associations from Text MiningDisease associations identified through Pubtator
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