Format

Send to:

Choose Destination

RUNX1 runt related transcription factor 1 [ Homo sapiens (human) ]

Gene ID: 861, updated on 12-Aug-2018

Summary

Official Symbol
RUNX1provided by HGNC
Official Full Name
runt related transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:10471
See related
Ensembl:ENSG00000159216 MIM:151385; Vega:OTTHUMG00000086299
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AML1; CBFA2; EVI-1; AMLCR1; PEBP2aB; CBF2alpha; AML1-EVI-1; PEBP2alpha
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 normal hematopoiesis. Chromosomal translocations involving this gene are well-documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Broad expression in appendix (RPKM 7.9), bone marrow (RPKM 7.3) and 24 other tissues See more
Orthologs

Genomic context

See RUNX1 in Genome Data Viewer
Location:
21q22.12
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 21 NC_000021.9 (34787801..35049334, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (36160098..36421595, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985515 Neighboring gene long intergenic non-protein coding RNA 160 Neighboring gene long intergenic non-protein coding RNA 1426 Neighboring gene RUNX1 element RE2 Neighboring gene uncharacterized LOC102724584 Neighboring gene uncharacterized LOC112267915 Neighboring gene RUNX1 enhancer RE1 Neighboring gene RUNX1 intronic transcript 1 Neighboring gene enhancer 4 sub-fragment of super-enhancer upstream of RUNX1 Neighboring gene uncharacterized LOC100506403 Neighboring gene ribosomal protein L34 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-08-14)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-08-14)

ClinGen Genome Curation PagePubMed

NHGRI GWAS Catalog

Description
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
NHGRI GWA Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.
NHGRI GWA Catalog
Genome-wide association study of antibody response to smallpox vaccine.
NHGRI GWA Catalog
Genome-wide association study of pre-eclampsia detects novel maternal single nucleotide polymorphisms and copy-number variants in subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study cohort.
NHGRI GWA Catalog
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif inhibits RUNX1 transcriptional activator by binding CBFB, which can be disrupted by mutating residue F68 in CBFB PubMed
vif The binding of HIV-1 Vif to CBF-beta is mutually exclusive of endogenous RUNX transcriptional factors in cells. Vif inhibits transcription of a RUNX1 reporter gene by competition with CBF-beta PubMed
vif HIV-1 Vif modulates cellular gene expression with RUNX1-associated regulatory domains PubMed
vif The C-terminal tail (residues 131-182) of CBFbeta is dispensable for both Vif-induced A3G degradation and RUNX1-mediated gene transcription PubMed
vif CBFbeta1-130, but not CBFbeta1-126, can fully support RUNX1-mediated gene transcription, indicating CBFbeta acts through different domains in its interaction with Vif and RUNX1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Acute myeloid leukemia, organism-specific biosystem (from KEGG)
    Acute myeloid leukemia, organism-specific biosystemAcute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation...
  • Acute myeloid leukemia, conserved biosystem (from KEGG)
    Acute myeloid leukemia, conserved biosystemAcute myeloid leukemia (AML) is a disease that is characterized by uncontrolled proliferation of clonal neoplastic cells and accumulation in the bone marrow of blasts with an impaired differentiation...
  • Chronic myeloid leukemia, organism-specific biosystem (from KEGG)
    Chronic myeloid leukemia, organism-specific biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
  • Chronic myeloid leukemia, conserved biosystem (from KEGG)
    Chronic myeloid leukemia, conserved biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
  • Dual hijack model of Vif in HIV infection, organism-specific biosystem (from WikiPathways)
    Dual hijack model of Vif in HIV infection, organism-specific biosystemBy hijacking CBF-b, Vif is manipulating the ubquitination machinery and adversely effecting host transcriptional regulation. Vif: Viral infectivity factor, HIV protein.
  • Hematopoietic Stem Cell Differentiation, organism-specific biosystem (from WikiPathways)
    Hematopoietic Stem Cell Differentiation, organism-specific biosystemGrowth factors and miRNA regulating differentiation of hematopoietic stem cells (HSC) to various blood-related cell types. Note that myeloblasts branch off separately from erythrocytes and megakaryoc...
  • Organic cation transport, organism-specific biosystem (from REACTOME)
    Organic cation transport, organism-specific biosystemThe organic cation transporters comprise three SLC22 members, OCT1-3. They can transport a wide range of organic cations including weak bases. All transport by OCTs is electrogenic, sodium-independen...
  • Organic cation/anion/zwitterion transport, organism-specific biosystem (from REACTOME)
    Organic cation/anion/zwitterion transport, organism-specific biosystemThe SLC22 gene family of solute carriers function as organic cation transporters (OCTs), cation/zwitterion transporters (OCTNs) and organic anion transporters (OATs). The SLC22 family belongs to the ...
  • Pathways in cancer, organism-specific biosystem (from KEGG)
    Pathways in cancer, organism-specific biosystem
    Pathways in cancer
  • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
    SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
  • Th17 cell differentiation, organism-specific biosystem (from KEGG)
    Th17 cell differentiation, organism-specific biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
  • Th17 cell differentiation, conserved biosystem (from KEGG)
    Th17 cell differentiation, conserved biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Transcriptional misregulation in cancer, organism-specific biosystem (from KEGG)
    Transcriptional misregulation in cancer, organism-specific biosystem
    Transcriptional misregulation in cancer
  • Transcriptional misregulation in cancer, conserved biosystem (from KEGG)
    Transcriptional misregulation in cancer, conserved biosystem
    Transcriptional misregulation in cancer
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystem (from REACTOME)
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds, organism-specific biosystemHexoses like glucose, galactose and fructose serve as basic fuel molecules for eukaryotic cells. Indeed, glucose is the main energy source for mammalian cells. These sugars are unable to diffuse acro...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
hematopoietic stem cell proliferation TAS
Traceable Author Statement
more info
PubMed 
hemopoiesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hemopoiesis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of CD4-positive, alpha-beta T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of gene expression TAS
Traceable Author Statement
more info
 
negative regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peripheral nervous system neuron development TAS
Traceable Author Statement
more info
PubMed 
positive regulation of CD8-positive, alpha-beta T cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of granulocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-2 production IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of B cell receptor signaling pathway TAS
Traceable Author Statement
more info
 
regulation of Wnt signaling pathway TAS
Traceable Author Statement
more info
 
regulation of bicellular tight junction assembly TAS
Traceable Author Statement
more info
 
regulation of cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
regulation of hematopoietic stem cell differentiation TAS
Traceable Author Statement
more info
 
regulation of intracellular estrogen receptor signaling pathway TAS
Traceable Author Statement
more info
 
regulation of keratinocyte differentiation TAS
Traceable Author Statement
more info
 
regulation of megakaryocyte differentiation TAS
Traceable Author Statement
more info
 
regulation of myeloid cell differentiation TAS
Traceable Author Statement
more info
 
regulation of regulatory T cell differentiation TAS
Traceable Author Statement
more info
 
transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
core-binding factor complex TAS
Traceable Author Statement
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
runt-related transcription factor 1
Names
AML1-EVI-1 fusion protein
PEA2-alpha B
PEBP2-alpha B
SL3-3 enhancer factor 1 alpha B subunit
SL3/AKV core-binding factor alpha B subunit
acute myeloid leukemia 1 protein
core-binding factor, runt domain, alpha subunit 2
oncogene AML-1
polyomavirus enhancer-binding protein 2 alpha B subunit

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011402.2 RefSeqGene

    Range
    940414..1201911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_482

mRNA and Protein(s)

  1. NM_001001890.2NP_001001890.1  runt-related transcription factor 1 isoform AML1b

    See identical proteins and their annotated locations for NP_001001890.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (AML1b) is shorter and has a distinct N-terminus compared to isoform AML1c.
    Source sequence(s)
    AP000330, D43968
    Consensus CDS
    CCDS42922.1
    UniProtKB/Swiss-Prot
    Q01196
    Related
    ENSP00000340690.4, OTTHUMP00000108696, ENST00000344691.8, OTTHUMT00000194230
    Conserved Domains (2) summary
    pfam00853
    Location:58179
    Runt; Runt domain
    pfam08504
    Location:362453
    RunxI; Runx inhibition domain
  2. NM_001122607.1NP_001116079.1  runt-related transcription factor 1 isoform AML1a

    See identical proteins and their annotated locations for NP_001116079.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region as well as the 3' UTR and coding region compared to variant 1. The resulting isoform (AML1a) is shorter and has distinct N- and C-termini compared to isoform AML1c.
    Source sequence(s)
    D43967
    Consensus CDS
    CCDS46646.1
    UniProtKB/Swiss-Prot
    Q01196
    Related
    ENSP00000351123.5, OTTHUMP00000108699, ENST00000358356.9, OTTHUMT00000194234
    Conserved Domains (1) summary
    pfam00853
    Location:58179
    Runt; Runt domain
  3. NM_001754.4NP_001745.2  runt-related transcription factor 1 isoform AML1c

    See identical proteins and their annotated locations for NP_001745.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest isoform (AML1c).
    Source sequence(s)
    AP000330, BM149149, D43969, D89789
    Consensus CDS
    CCDS13639.1
    UniProtKB/Swiss-Prot
    Q01196
    Related
    ENSP00000409227.1, ENST00000437180.5
    Conserved Domains (3) summary
    pfam00853
    Location:85206
    Runt; Runt domain
    pfam08504
    Location:389480
    RunxI; Runx inhibition domain
    cl26464
    Location:182426
    Atrophin-1; Atrophin-1 family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p12 Primary Assembly

    Range
    34787801..35049334 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529768.2XP_011528070.1  runt-related transcription factor 1 isoform X6

    Conserved Domains (2) summary
    pfam00853
    Location:72192
    Runt; Runt domain
    pfam08504
    Location:312403
    RunxI; Runx inhibition domain
  2. XM_011529767.2XP_011528069.1  runt-related transcription factor 1 isoform X3

    See identical proteins and their annotated locations for XP_011528069.1

    Conserved Domains (2) summary
    pfam00853
    Location:72193
    Runt; Runt domain
    pfam08504
    Location:376467
    RunxI; Runx inhibition domain
  3. XM_005261069.4XP_005261126.1  runt-related transcription factor 1 isoform X5

    Conserved Domains (2) summary
    pfam00853
    Location:85205
    Runt; Runt domain
    pfam08504
    Location:325416
    RunxI; Runx inhibition domain
  4. XM_011529766.2XP_011528068.1  runt-related transcription factor 1 isoform X1

    See identical proteins and their annotated locations for XP_011528068.1

    UniProtKB/Swiss-Prot
    Q01196
    Related
    ENSP00000300305.3, OTTHUMP00000108697, ENST00000300305.7, OTTHUMT00000194231
    Conserved Domains (3) summary
    pfam00853
    Location:85206
    Runt; Runt domain
    pfam08504
    Location:389480
    RunxI; Runx inhibition domain
    cl26464
    Location:182426
    Atrophin-1; Atrophin-1 family
  5. XM_005261068.3XP_005261125.1  runt-related transcription factor 1 isoform X2

    See identical proteins and their annotated locations for XP_005261125.1

    UniProtKB/Swiss-Prot
    Q01196
    Conserved Domains (2) summary
    pfam00853
    Location:73194
    Runt; Runt domain
    pfam08504
    Location:377468
    RunxI; Runx inhibition domain
  6. XM_017028487.1XP_016883976.1  runt-related transcription factor 1 isoform X4

  7. XM_011529770.2XP_011528072.1  runt-related transcription factor 1 isoform X7

    Conserved Domains (1) summary
    pfam00853
    Location:85206
    Runt; Runt domain

RNA

  1. XR_937576.2 RNA Sequence

Support Center