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

Gene ID: 861, updated on 13-Jan-2015
Official Symbol
RUNX1provided by HGNC
Official Full Name
runt-related transcription factor 1provided by HGNC
Primary source
HGNC:HGNC:10471
See related
Ensembl:ENSG00000159216; HPRD:01043; 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; AML1-EVI-1
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]
Orthologs
See RUNX1 in MapViewer
Location:
21q22.3
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 long intergenic non-protein coding RNA 160 Neighboring gene long intergenic non-protein coding RNA 1426 Neighboring gene uncharacterized LOC102724584 Neighboring gene uncharacterized LOC101928240 Neighboring gene RUNX1 intronic transcript 1 (non-protein coding) Neighboring gene uncharacterized LOC100506403 Neighboring gene ribosomal protein L34 pseudogene 3 Neighboring gene enhancer of zeste homolog 2 (Drosophila) pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Familial platelet disorder with associated myeloid malignancy
MedGen: C1832388 OMIM: 601399 GeneReviews: Not available
Compare labs

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

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV-1 Vif modulates cellular gene expression with RUNX1-associated regulatory domains 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 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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
behavioral response to pain IEA
Inferred from Electronic Annotation
more info
 
cellular response to transforming growth factor beta stimulus IEA
Inferred from Electronic Annotation
more info
 
central nervous system development IEA
Inferred from Electronic Annotation
more info
 
definitive hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
embryonic hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
hair follicle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
hematopoietic stem cell proliferation TAS
Traceable Author Statement
more info
PubMed 
hemopoiesis IDA
Inferred from Direct Assay
more info
PubMed 
hemopoiesis TAS
Traceable Author Statement
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
liver development IEA
Inferred from Electronic Annotation
more info
 
myeloid cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
myeloid progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of granulocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
peripheral nervous system neuron development TAS
Traceable Author Statement
more info
PubMed 
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 progesterone secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
regulation of hair follicle cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basement membrane IEA
Inferred from Electronic Annotation
more info
 
cytoplasm 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
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
runt-related transcription factor 1
Names
runt-related transcription factor 1
CBF-alpha-2
PEA2-alpha B
PEBP2-alpha B
oncogene AML-1
AML1-EVI-1 fusion protein
acute myeloid leukemia 1 protein
SL3-3 enhancer factor 1 alpha B subunit
SL3/AKV core-binding factor alpha B subunit
core-binding factor, runt domain, alpha subunit 2
polyomavirus enhancer-binding protein 2 alpha B subunit

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 

    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 proteins identical to 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, OTTHUMP00000108696, ENST00000344691, OTTHUMT00000194230
    Conserved Domains (2) summary
    pfam00853
    Location:48182
    Runt; Runt domain
    pfam08504
    Location:359453
    RunxI; Runx inhibition domain
  2. NM_001122607.1NP_001116079.1  runt-related transcription factor 1 isoform AML1a

    See proteins identical to 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, OTTHUMP00000108699, ENST00000358356, OTTHUMT00000194234
    Conserved Domains (1) summary
    pfam00853
    Location:48182
    Runt; Runt domain
  3. NM_001754.4NP_001745.2  runt-related transcription factor 1 isoform AML1c

    See proteins identical to 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, ENST00000437180
    Conserved Domains (2) summary
    pfam00853
    Location:75209
    Runt; Runt domain
    pfam08504
    Location:386480
    RunxI; Runx inhibition domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000021.9 

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

mRNA and Protein(s)

  1. XM_005261069.2XP_005261126.1  

    Conserved Domains (2) summary
    pfam00853
    Location:75208
    Runt; Runt domain
    pfam08504
    Location:322416
    RunxI; Runx inhibition domain
  2. XM_005261068.2XP_005261125.1  

    See proteins identical to XP_005261125.1

    UniProtKB/Swiss-Prot
    Q01196
    Conserved Domains (2) summary
    pfam00853
    Location:63197
    Runt; Runt domain
    pfam08504
    Location:374468
    RunxI; Runx inhibition domain

Alternate CHM1_1.1

Genomic

  1. NC_018932.2 

    Range
    35722384..35983819
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000153.1 

    Range
    21639088..21900490
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)