RUNX1 runt-related transcription factor 1 [Homo sapiens] - Gene

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Summary

Official Symbol: RUNX1provided by HGNC
Official Full Name: runt-related transcription factor 1provided by HGNC
Primary source: 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]

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Genomic context

Location :: 21q22.3

Sequence :: Chromosome: 21; NC_000021.8 (36160098..36421595, complement)

See RUNX1 in Epigenomics, MapViewer

Chromosome 21 - NC_000021.8 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

RUNX1 abnormalities may promote acute myeloid leukemic transformation in a subset of chronic myeloid leukemia patients
Title: Functional features of RUNX1 mutants in acute transformation of chronic myeloid leukemia and their contribution to inducing murine full-blown leukemia.
RUNX1 mutations are an important novel biomarker for a comprehensive characterization of T-cell acute lymphoblastic leukemia with poor prognostic impact and have implications for use also in monitoring disease.
Title: Prognostic relevance of RUNX1 mutations in T-cell acute lymphoblastic leukemia.
In this review, we detail the structural features, functions, and models used to study both RUNX1 and RUNX1-ETO in hematopoiesis over the past two decades
Title: RUNX1 and RUNX1-ETO: roles in hematopoiesis and leukemogenesis.
ETV6-RUNX1 was associated with age 1-9 years, pre-treatment classification as low risk and lower levels of minimal residual disease in acute lymphoblastic leukemia on day 19 of therapy
Title: ETV6-RUNX1-positive childhood acute lymphoblastic leukemia: improved outcome with contemporary therapy.
Report prognosis in pediatric B-lymphoblastic leukemia with RUNX1 amplification.
Title: Pediatric B-lymphoblastic leukemia with RUNX1 amplification: clinicopathologic study of eight cases.
found that RUNX1 directly regulates the transcription of GADD45A and that RUNX1 and p53 synergistically activate the GADD45A transcription
Title: C-terminal mutation of RUNX1 attenuates the DNA-damage repair response in hematopoietic stem cells.
These findings implicate glucocorticoid-associated drug resistance in ETV6/RUNX1-positive relapse pathogenesis.
Title: ETV6/RUNX1-positive relapses evolve from an ancestral clone and frequently acquire deletions of genes implicated in glucocorticoid signaling.
RUNX1 could act as a tumor suppressor gene in breast cancer.
Title: RUNX1 and its understudied role in breast cancer.
Studies identified a physical and functional interaction between RUNX1 (AML1) and MLL and show that both are required to maintain the histone lysine 4 trimethyl mark (H3K4me3) at 2 critical regulatory regions of the AML1 target gene PU.1.
Title: The ability of MLL to bind RUNX1 and methylate H3K4 at PU.1 regulatory regions is impaired by MDS/AML-associated RUNX1/AML1 mutations.
Findings show a novel role for AML1 as a cytoplasmic attenuator of NF-kappaB signaling and indicate that NF-kappaB signaling is one of the promising therapeutic targets of hematologic malignancies with AML1 abnormality.
Title: AML1/RUNX1 functions as a cytoplasmic attenuator of NF-κB signaling in the repression of myeloid tumors.

Submit: New GeneRIF Correction See all (288)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.

Platelet disorder, familial, with associated myeloid malignancy

MIM: 601399

Rheumatoid arthritis, susceptibility to

MIM: 180300

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Products	Interactant	Other Gene	Source	Pubs	Description
CAA56092.1	NP_001746.1	CBFB	BIND	PubMed	Cbf-beta interacts with AML1a. This interaction was modeled on a demonstrated interaction between mouse Cbf-beta and human AML1a.
CAA56092.1	NP_005068.2	TLE1	BIND	PubMed	AML1a interacts with TLE1.
NP_001001890.1	NP_001746.1	CBFB	BIND	PubMed	Cbf-beta interacts with AML1b. This interaction was modeled on a demonstrated interaction between mouse Cbf-beta and human AML1b.
NP_001001890.1	NP_005068.2	TLE1	BIND	PubMed	AML1b interacts with TLE1.
Q01196	P10275	AR	HPRD	PubMed
Q01196	O43439	CBFA2T2	HPRD	PubMed
Q01196	MTGR2	CBFA2T3	HPRD	PubMed
Q01196	Q13951	CBFB	HPRD	PubMed
Q01196	P24385	CCND1	HPRD	PubMed
Q01196	P30279	CCND2	HPRD	PubMed
Q01196	P30281	CCND3	HPRD	PubMed
Q01196	Q00534	CDK6	HPRD	PubMed
Q01196	P49715	CEBPA	HPRD	PubMed
Q01196	P17676	CEBPB	HPRD	PubMed
Q01196	Q15723	ELF2	HPRD	PubMed
Q01196	Q99607	ELF4	HPRD	PubMed
Q01196	Q09472	EP300	HPRD	PubMed
Q01196	P01100	FOS	HPRD	PubMed
Q01196	Q9BZS1	FOXP3	HPRD	PubMed
Q01196	Q86Z02	HIPK1	HPRD	PubMed
Q01196	Q9H2X6	HIPK2	HPRD	PubMed
Q01196	P05412	JUN	HPRD	PubMed
Q01196	Q92794	KAT6A	HPRD	PubMed
Q01196	Q8WYB5	KAT6B	HPRD	PubMed
Q01196	Q9Y618	NCOR2	HPRD	PubMed
Q01196	Q02548	PAX5	HPRD	PubMed
Q01196	O43463	SUV39H1	HPRD	PubMed
Q01196	Q04724	TLE1	HPRD	PubMed
Q01196	Q04725	TLE2	HPRD	PubMed
Q01196	Q9GZV5	WWTR1	HPRD	PubMed
Q01196	P46937	YAP1	HPRD	PubMed
BioGRID:107309	BioGRID:106675	AES	BioGRID	PubMed	Two-hybrid
BioGRID:107309	BioGRID:120632	C17orf79	BioGRID	PubMed	Reconstituted Complex
BioGRID:107309	BioGRID:114586	CBFA2T2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:107313	CBFB	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure
BioGRID:107309	BioGRID:107420	CDK1	BioGRID	PubMed	Biochemical Activity
BioGRID:107309	BioGRID:107480	CEBPB	BioGRID	PubMed	Reconstituted Complex
BioGRID:107309	BioGRID:108263	EFNA2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107309	BioGRID:108313	ELF2	BioGRID	PubMed	Reconstituted Complex
BioGRID:107309	BioGRID:108315	ELF4	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107309	BioGRID:108347	EP300	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:108414	ETS1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107309	BioGRID:108565	FHL2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:108636	FOS	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107309	BioGRID:109315	HDAC1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107309	BioGRID:109316	HDAC2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:114368	HDAC3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107309	BioGRID:118815	HIPK2	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity
BioGRID:107309	BioGRID:109928	JUN	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107309	BioGRID:113703	KAT6A	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Biochemical Activity
BioGRID:107309	BioGRID:117069	KAT6B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:110443	MLL	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:110737	MYOD1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107309	BioGRID:114973	NCOR1	BioGRID	PubMed	Reconstituted Complex
BioGRID:107309	BioGRID:110983	NR4A2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:111113	PAX5	BioGRID	PubMed	Reconstituted Complex
BioGRID:107309	BioGRID:111384	PML	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:111849	RARA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:115700	RBM14	BioGRID	PubMed	Reconstituted Complex
BioGRID:107309	BioGRID:107309	RUNX1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:107310	RUNX1T1	BioGRID	PubMed	Co-purification
BioGRID:107309	BioGRID:112372	SIAH1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:117439	SIN3A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:110261	SMAD1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:110262	SMAD2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:110263	SMAD3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:110265	SMAD5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:112481	SMARCA4	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:112482	SMARCB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:112483	SMARCC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:115563	STUB1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107309	BioGRID:112706	SUV39H1	BioGRID	PubMed	Affinity Capture-Western; Co-purification; Reconstituted Complex
BioGRID:107309	BioGRID:112749	TAL1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107309	BioGRID:112798	TCF12	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:112791	TCF3	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:112943	TLE1	BioGRID	PubMed	Far Western; Two-hybrid
BioGRID:107309	BioGRID:113041	TRAF6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:119625	TRIM33	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107309	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:107309	BioGRID:114672	UBE2L6	BioGRID	PubMed	Reconstituted Complex
BioGRID:107309	BioGRID:113264	VDR	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107309	BioGRID:246986	Vdr	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107309	BioGRID:115684	YAP1	BioGRID	PubMed	Two-hybrid
BioGRID:107309	BioGRID:1205541	tat	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
ATP binding	NAS Non-traceable Author Statement more info
DNA binding	IDA Inferred from Direct Assay more info	PubMed
calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
regulatory region DNA binding	IDA Inferred from Direct Assay more info
sequence-specific DNA binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info
transcription factor binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
hemopoiesis	IDA Inferred from Direct Assay more info
hemopoiesis	TAS Traceable Author Statement more info	PubMed
hemopoietic stem cell proliferation	TAS Traceable Author Statement more info
myeloid cell differentiation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of granulocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
peripheral nervous system neuron development	TAS Traceable Author Statement 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 transcription from RNA polymerase II promoter	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription, DNA-dependent	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info	PubMed
NOT nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed
nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

Preferred Names: runt-related transcription factor 1

Names: runt-related transcription factor 1; CBF-alpha-2; PEA2-alpha B; PEBP2-alpha B; aml1 oncogene; oncogene AML-1; AML1-EVI-1 fusion protein; acute myeloid leukemia 1 protein; core-binding factor subunit alpha-2; 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

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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

NG_011402.1 RefSeqGene

Range

5001..266498

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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:49 – 182
Blast Score: 693

Runt; Runt domain

pfam08504
Location:359 – 453
Blast Score: 339

RunxI; Runx inhibition domain
NM_001122607.1 → NP_001116079.1 runt-related transcription factor 1 isoform AML1a

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:49 – 182
Blast Score: 687

Runt; Runt domain
NM_001754.4 → NP_001745.2 runt-related transcription factor 1 isoform AML1c

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:76 – 209
Blast Score: 698

Runt; Runt domain

pfam08504
Location:386 – 480
Blast Score: 342

RunxI; Runx inhibition domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000021.8 Reference GRCh37.p5 Primary Assembly

Range

36160098..36421595, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000153.1 Alternate HuRef

Range

21639088..21900490, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AF015262.2	None
genomic	AF025841.1	AAC05246.1
		AAC05247.1
genomic	AJ229043.1	CAA13070.1
genomic	AP000330.3 (125334..169868)	None
genomic	AP000331.1	None
genomic	AP000332.2	None
genomic	AP000333.1	None
genomic	AP000334.1	None
genomic	CH471079.2	EAX09769.1
		EAX09770.1
mRNA	AA878154.1	None
mRNA	AK226159.1	None
mRNA	AK310587.1	None
mRNA	AL581043.3	None
mRNA	AV761975.1	None
mRNA	BC050363.1	None
mRNA	BC110828.1	AAI10829.1
mRNA	BC136380.1	AAI36381.1
mRNA	BC136381.1	AAI36382.1
mRNA	BC144053.1	AAI44054.1
mRNA	BM149149.1	None
mRNA	BX475024.1	None
mRNA	CA503244.1	None
mRNA	CD638998.1	None
mRNA	D10570.1	BAA01426.1
mRNA	D43967.1	BAA07902.1
mRNA	D43968.1	BAA07903.1
mRNA	D43969.1	BAA07904.1
mRNA	D89788.1	BAA14020.1
mRNA	D89789.1	BAA14021.1
mRNA	D89790.1	BAA14022.1
mRNA	L34598.1	AAA51720.1
mRNA	S60998.1	None
mRNA	S76345.1	AAB33729.1
mRNA	S76346.1	AAB33730.1
mRNA	S76350.1	AAB33731.1
mRNA	U19601.1	AAB51691.1
mRNA	X79549.1	CAA56092.1
mRNA	X90976.1	CAA62464.1
mRNA	X90977.1	None
mRNA	X90979.1	CAA62466.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q01196.3	GenPept	UniProtKB/Swiss-Prot:Q01196
Q15342	GenPept	UniProtKB/TrEMBL:Q15342
Q2TAM6	GenPept	UniProtKB/TrEMBL:Q2TAM6