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RUNX1 Gene

protein-coding GIFtS: 74

GC21M035081

runt-related transcription factor 1
(Previous name: acute myeloid leukemia 1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: AML1, CBFA2)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase, and/or ⁹Nature:405,311-319 and CroW21)
About This Section

Aliases
AML1 ^², ³, ⁵
AML1-EVI-1 ^²
AMLCR1 ^¹, ²
CBF-alpha-2 ^³
CBFA2 ^², ³, ⁵
EVI-1 ^²
PEBP2A2 ^¹
PEBP2aB ^²

Descriptions
AML1-EVI-1 fusion protein ^²
Acute myeloid leukemia 1 protein ^³
Core-binding factor subunit alpha-2 ^³
Oncogene AML-1 ^³
PEA2-alpha B ^³
PEBP2-alpha B ^³
Polyomavirus enhancer-binding protein 2 alpha B subunit ^³
SL3-3 enhancer factor 1 alpha B subunit ^³
SL3/AKV core-binding factor alpha B subunit ^³
acute myeloid leukemia 1 ^¹, ²
acute myeloid leukemia 1 protein (oncogene AML-1), core-binding factor, alpha subunit ⁹
aml1 oncogene ^²
core-binding factor, runt domain, alpha subunit 2 ^²
runt-related transcription factor 1 ^²

External Ids
HGNC: 10471¹
Entrez Gene: 861²
UniProtKB: Q01196³
Ensembl: ENSG00000159216⁷

Search outside databases for aliases for RUNX1 gene

Previous GC identifers: GC21M032737 GC21M035080

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for RUNX1:

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]

UniProtKB/Swiss-Prot: RUNX1_HUMAN, Q01196

Function: CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters,

including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL-3 and

GM-CSF promoters. The alpha subunit binds DNA and appears to have a role in the development of

normal hematopoiesis. Isoform AML-1L interferes with the transactivation activity of RUNX1. Acts

synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the

mouse BLK promoter. Inhibits MYST4-dependent transcriptional activation

Gene Wiki entry for RUNX1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3 Ensembl cytogenetic band: 21q22.12 HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band: 21q22.12

RUNX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 21 GeneLoc Exon Structure

(about GC identifiers)

GC21M035081:	GeneLoc	Nature:405,311-319
Start:	35,081,968 bp from pter	21,770,223 bp from centromere
End:	35,343,511 bp from pter	21,837,636 bp from centromere
Size:	261,544 bases	67,414 bases
Orientation:	minus strand	minus strand

RefSeq DNA sequence:

NC_000021.7 NT_011512.10

Whole chromosome sequencing:
cDNA sequence:	D43967
genomic clones:	PPQ140K16 to P499A22

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: RUNX1_HUMAN, Q01196 (See protein sequence)

Recommended Name: Runt-related transcription factor 1

Size: 453 amino acids; 48737 Da

Subunit: Heterodimer with CBFB. RUNX1 binds DNA as a monomer and through the Runt domain.

DNA-binding is increased by heterodimerization. Isoform AML-1L can neither bind DNA nor

heterodimerize. Interacts with TLE1 and THOC4. Interacts with ELF1, ELF2 and SPI1. Interacts via

its Runt domain with the ELF4 N-terminal region. Interaction with ELF2 isoform 2 (NERF-1a) may act

to repress RUNX1-mediated transactivation. Interacts with MYST3 and MYST4. Interacts with SUV39H1,

leading to abrogate the transactivating and DNA-binding properties of RUNX1

Subcellular location: Nucleus

Caution: The fusion of AML1 with EAP in T-MDS induces a change of reading frame in the latter

resulting in 17 AA unrelated to those of EAP

PDB structures from and Proteopedia :

1CMO (3D)

1CO1 (3D)

1E50 (3D)

1H9D (3D)

1LJM (3D)

Secondary accessions: A8MV94 O60472 O60473 O76047 O76089 Q13081 Q13755 Q13756 Q13757 Q13758 Q13759

Q15341 Q15343 Q16122 Q16284 Q16285 Q16286 Q16346 Q16347 Q92479

Alternative splicing: 11 isoforms: Q01196-1 Q01196-2 Q01196-3 Q01196-4 Q01196-5 Q01196-6 Q01196-7 Q01196-8

Q01196-9 Q01196-10 Q01196-11 (Additional isoforms seem to exist)

Post-translational modifications:

Phosphorylated in its C-terminus upon IL-6 treatment. Phosphorylation enhances interaction with

MYST3¹

Methylated¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_001001890.1 NP_001116079.1 NP_001745.2

ENSEMBL proteins:

ENSP00000342892 ENSP00000319459 ENSP00000382189 ENSP00000351123 ENSP00000382184 ENSP00000382182

ENSP00000340690 ENSP00000300305

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich CompoZr ZFN for RUNX1
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (RUNX1 / AML1)
	Browse Abnova for Human Recombinant Proteins

OriGene Purified Recombinant Human Proteins (see all 2): RUNX1

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	NAS	--

About this table

Antibodies for RUNX1:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of RUNX1
	Sigma-Aldrich Antibodies for RUNX1
	R&D Systems Antibodies for RUNX1 (RUNX1/CBFA2)
	Cell Signaling Technology (CST) Antibodies for RUNX1 (AML1)
	Antibodies from Abcam (RUNX1 / AML1), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Novus Biologicals Antibodies for RUNX1

Assays for RUNX1:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q01196

ProtoNet protein and cluster: Q01196

2 Blocks protein families:

IPB000040 Acute myeloid leukemia 1 protein signature

IPB013711 Runx inhibition

UniProtKB/Swiss-Prot: RUNX1_HUMAN, Q01196

Domain: A proline/serine/threonine rich region at the C-terminus is necessary for transcriptional

activation of target genes

Similarity: Contains 1 Runt domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (RUNX1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (RUNX1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001122607

Applied Biosystems Silencer® siRNAs for RUNX1

Sigma-Aldrich siRNA and siRNA Panels for RUNX1

Sigma-Aldrich shRNA Panels and shRNA for RUNX1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001001890
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001001890
untagged cDNA clones in CMV expression vector (see all 3): NM_001001890

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_001754

UniProtKB/Swiss-Prot: RUNX1_HUMAN, Q01196

Function: CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters,

including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL-3 and

GM-CSF promoters. The alpha subunit binds DNA and appears to have a role in the development of

normal hematopoiesis. Isoform AML-1L interferes with the transactivation activity of RUNX1. Acts

synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the

mouse BLK promoter. Inhibits MYST4-dependent transcriptional activation

Genatlas biochemistry entry for RUNX1:

Drosophila Runt pair rule-related transcription factor 1,binding to the enhancer of T cell receptor

genes,involved in hematopoiesis and osteogenesis,rearranged in acute myeloid leukemia with

t(8;21)(q22;q22),often associated with prior therapy t(17;21)(q11.2;q22) and others;myelodsyplasia

syndrome with t(3;21)(q26;q22);acute lymphoblastic leukemia with t(12;21)(p13;q22)

15 MGI mutant phenotypes (inferred from 31 alleles) (MGI details for Runx1):

	cellular	embryogenesis	growth/size	hematopoietic system
immune system	lethality-postnatal	lethality-prenatal/perinatal	life span-post-weaning/aging	liver/biliary system
nervous system	normal	respiratory system	skin/coat/nails	tumorigenesis

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003700	transcription factor activity	TAS	8565077
GO:0005515	protein binding	IPI	10207087 11965546 14970218
GO:0005524	ATP binding	NAS	--
GO:0016563	transcription activator activity	IDA	10207087 14970218
GO:0031404	chloride ion binding	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

2 Sigma-Aldrich "Your Favorite Gene" Pathways for RUNX1 (Your Favorite Gene powered by Ingenuity)

Acute Myeloid Leukemia Signaling
GM-CSF Signaling

GeneDecks RUNX1 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for RUNX1

5/125 Interacting proteins for RUNX1 (ENSP00000300305³ Q01196^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 125 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ELF2	Q15723¹	STRING (score=.981) EBI-925904, EBI-956941
ELF4	Q99607¹	STRING (score=.909) EBI-925904, EBI-957009
TLE1	Q04724¹	STRING (score=.984) EBI-925944, EBI-711424
CDK6	Q00534²	STRING (score=.737) MINT-4791080 MINT-4791148 MINT-4791064 MINT-4791100
HIPK2	Q9H2X6²	STRING (score=.843) MINT-2982465 MINT-2982510 MINT-2982487 MINT-2984544

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5 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006355	regulation of transcription, DNA-dependent	NAS	--
GO:0007275	multicellular organismal development	TAS	8622955
GO:0030854	positive regulation of granulocyte differentiation	IMP	9199349
GO:0045766	positive regulation of angiogenesis	ISS	--
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IDA	10207087 14970218

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for RUNX1:

Metabolite Mixed Agonist/Antagonist Antagonist Blocker Agonist Ligand

Browse Tocris compounds for RUNX1
7 Novoseek chemical compound relationships for RUNX1 gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
zinc	48.01	42	9209439 (3), 17575132 (3), 9834202 (2), 16954386 (2) (see all 23)
proline	11.71	1	8668214 (1)
tyrosine	10.88	3	16675540 (1), 16467864 (1), 16424869 (1)
oligonucleotide	0.00	4	7972130 (1), 18511808 (1), 8499624 (1)
sucrose	0.00	1	12850377 (1)
threonine	0.00	1	8781439 (1)
12-o-tetradecanoylphorbol 13-acetate	0.00	1	19114653 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (RUNX1)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (RUNX1)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001122607

Sigma-Aldrich siRNA and siRNA Panels for RUNX1

Sigma-Aldrich shRNA Panels and shRNA for RUNX1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001001890 NM_001122607 NM_001754

REFSEQ mRNAs for RUNX1 gene (3 alternative transcripts):

NM_001001890.2 NM_001122607.1 NM_001754.4

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001001890 NM_001122607 NM_001754

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_001001890
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_001001890
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_001001890

Additional cDNA sequence:

AK226159.1 AK310587.1 AK310646.1 AY509915.1 AY509916.1 BC050363.1 BC110828.1 BC136380.1

BC136381.1 BC144053.1 CR610970.1 CR622321.1 D10570.1 D43967.1 D43968.1 D43969.1

D89788.1 D89789.1 D89790.1 L34598.1 S60998.1 S76345.1 S76346.1 S76350.1

U19601.1 X79549.1 X90976.1 X90977.1 X90978.1 X90979.1 X90980.1 X90981.1

16 DOTS entries:

DT.92474126 DT.87016794 DT.100797030 DT.95364201 DT.91995611 DT.121140186 DT.40128004 DT.95144419

DT.40224072 DT.433898 DT.95228859 DT.95228861 DT.121140195 DT.95349738 DT.92474132 DT.95228867

24/184 AceView cDNA sequences (see all 184 ):

BQ448062 S76346 AI268201 X90981 BQ182993 F20669 AI368901 CA312841

X90980 BQ772210 AI798056 CA435741 CA867748 BQ771737 AI784593 CA448298

AL597630 AI871685 AX813477 BC050363 S76350 BP367706 BQ422826 CB528673

highest scoring ESTs for RUNX1:

D43969 D43968 D89788 D89789 D89790 S76346 U19601 X90978 AA043767 AA043768

Unigene Cluster for RUNX1:

Runt-related transcription factor 1

Hs.149261 [show with all ESTs]

Unigene Representative Sequence: NM_001001890

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for RUNX1 (see all 10 )

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7	^	8	^	9	^	10	^	11	^	12	^	13a	·	13b	·	13c	·	13d
SP1:											-		-		-										-		-
SP2:							-		-		-		-		-		-								-		-
SP3:																									-		-
SP4:																									-
SP5:																							-		-		-

About this scheme

ECgene alternative splicing isoforms for RUNX1

8 Ensembl transcripts including schematic representations:

ENST00000342083 ENST00000325074 ENST00000399245 ENST00000358356 ENST00000399240 ENST00000399237

ENST00000344691 ENST00000300305

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

RUNX1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for RUNX1

¹ / ² / ³

33 probe-sets matching RUNX1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
31443_at²^{, 3}	U95-A	1	1.00	1.00	-0.16	1.06	S76346	0.80	1.00	0.91	1
39421_at²^{, 3}	U95-A	1	1.00	1.00	0.96	1.28	D43969	1.00	1.00	1.00	1
393_s_at²^{, 3}	U95-A	1	1.00	1.00	0.94	1.10	X90976	0.60	1.00	0.82	1
2026_at²^{, 3}	U95-A	1	1.00	1.00	0.91	0.41	M83215	0.40	1.00	0.76	1
943_at²^{, 3}	U95-A	2	1.00	0.97	0.94	1.21	D43968	0.80	1.00	0.91	1
780_at*²^{, 3}	U95-A	1	1.00	1.00	0.59	0.93	X90978	0.80	1.00	0.91	1
79867_at*²^{, 3}	U95-D	4	0.50	0.25	0.11	1.21	AI827485	0.20	0.12	0.17	2
209359_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	L34598	0.60	1.00	0.82	1
209360_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	D43968	0.80	1.00	0.91	1
210805_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	U19601	0.80	1.00	0.91	1
211180_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	D89788	0.80	1.00	0.91	1
208129_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_001754	0.60	1.00	0.82	1
210365_at²^{, 3}	U133-A	1	1.00	1.00	--	--	D43967	0.60	1.00	0.82	1
217263_x_at²^{, 3}	U133-A	3	1.00	0.80	--	--	S76346	0.80	1.00	0.91	1
211181_x_at²^{, 3}	U133-A	3	0.82	0.70	--	--	AF312386	0.20	1.00	0.72	1
211182_x_at²^{, 3}	U133-A	3	0.82	0.54	--	--	AF312387	0.20	1.00	0.72	1
211620_x_at²	U133-A	6	0.82	0.39	--	--	--	--	--	--	--
211179_at*²^{, 3}	U133-A	1	1.00	1.00	--	--	AY004251	0.20	1.00	0.72	1
237697_at*²	U133-B	4	0.27	0.25	--	--	--	--	--	--	--
209359_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
209360_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210805_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211180_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
208129_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210365_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
217263_x_at²	U133Plus2	3	1.00	0.80	--	--	--	--	--	--	--
211181_x_at²	U133Plus2	3	0.82	0.70	--	--	--	--	--	--	--
211182_x_at²	U133Plus2	3	0.82	0.54	--	--	--	--	--	--	--
211620_x_at²	U133Plus2	6	0.82	0.39	--	--	--	--	--	--	--
211179_at*²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1555558_at*²	U133Plus2	4	1.00	0.25	--	--	--	--	--	--	--
1570350_at*²	U133Plus2	4	0.91	0.25	--	--	--	--	--	--	--
237697_at*²	U133Plus2	4	0.27	0.25	--	--	--	--	--	--	--

GeneDecks RUNX1 for binary patterns associated with the probe-sets selected above

About GeneDecksing

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.149261
Expression variation in blood from EXPOLDB for RUNX1
UniProtKB/Swiss-Prot: RUNX1_HUMAN, Q01196
Tissue specificity: Expressed in all tissues examined except brain and heart. Highest levels in
thymus, bone marrow and peripheral blood

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for RUNX1 gene from 5/8 species (see all 8 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	RUNX1¹	--	runt-related transcription factor 1	93.44(n) 97.99(a)	487746 XM_544871.2 XP_544871.2
chimpanzee (Pan troglodytes)	RUNX1¹	--	runt-related transcription factor 1	99.86(n) 100(a)	473981 XM_001168297.1 XP_001168297.1
cow (Bos taurus)	RUNX1¹	--	similar to runt-related transcription factor 1	93.47(n) 98.12(a)	529631 XM_865771.2 XP_870864.1
rat (Rattus norvegicus)	Runx1¹	--	runt related transcription factor 1	90.49(n) 95.96(a)	50662 NM_017325.1 NP_059021.1
mouse (Mus musculus)	Runx1⁵	16 (62.20 cM)	runt related transcription factor 1	--	X97306

About this table Species with no ortholog for RUNX1

ENSEMBL Gene Tree for RUNX1

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for RUNX1 gene

RUNX2² RUNX3²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/1524 NCBI SNPs in RUNX1 are shown (see all 1524 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 528)

AB	SNP ID	Valid	Chr 21 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs2018329^1,2	A,C,F,H,O	35115741(+)	`GGCTGC/TCATCT`	3	--	int¹ ut3¹ ese³		9		MN EU EA WA NA	854
	rs8131520^1,2	A,C,F,H	35085383(+)	`CTCATT/CCTTTT`	2	--	ut3¹ trp³		4		EU EA WA	420
	rs2071029^1,2	A,C,F,H	35344348(-)	`CTACAG/AGTGTA`	1	--	ng3¹		12		EU EA WA NA	1198
	rs9977916^1,2	C,F,H	35345324(+)	`TATCCT/CTGGGA`	1	--	ng3¹		8		EU EA WA	824
	rs12626613^1,2	C,F,H	35345150(+)	`ACCCTC/GCCTAA`	1	--	ng3¹		8		EU EA WA	832
--	rs2843965^1,2	C	35184420(+)	`CCCGGA/TGCTCC`	2	--	int¹ ng3¹		0	--	--	--	--
	rs1055314^1,2	F	35086162(-)	`GACGGC/ACAGGA`	2	--	ut3¹ ese³		1		MN	184
	rs2843957^1,2	C	35183631(+)	`AGCGAA/GGAGTT`	2	--	ng3¹ int¹		0	--	--	--	--
--	rs7281361^1,2	C	35184297(+)	`GGTTGA/GCTGGC`	2	--	int¹ ng3¹		0	--	--	--	--
--	rs13051066^1,2	C	35086275(+)	`CCGCGG/TGGCCC`	2	--	ut3¹ ese³		0	--	--	--	--

About this table

HapMap Linkage Disequilibrium images for RUNX1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 151385 disorders: 601626 601399 180300

UniProtKB/Swiss-Prot: RUNX1_HUMAN, Q01196

A chromosomal aberration involving RUNX1/AML1 is a cause of M2 type acute myeloid leukemia

(AML-M2). Translocation t(8;21)(q22;q22) with RUNX1T1/MTG8/ETO

A chromosomal aberration involving RUNX1/AML1 is a cause of therapy-related

myelodysplastic syndrome (T-MDS). Translocation t(3;21)(q26;q22) with EAP, MSD1 or EVI1

A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelogenous leukemia

(CML). Translocation t(3;21)(q26;q22) with EAP, MSD1 or EVI1

A chromosomal aberration involving RUNX1/AML1 is found in childhood acute lymphoblastic

leukemia (ALL). Translocation t(12;21)(p13;q22) with TEL. The translocation fuses the 3'-end of

TEL to the alternate 5'-exon of AML-1H

Defects in RUNX1 are the cause of familial platelet disorder with associated myeloid

malignancy (FPDMM) [MIM:601399]. FPDMM is an autosomal dominant disease characterized by

qualitative and quantitative platelet defects, and propensity to develop acute myelogenous

leukemia

A chromosomal aberration involving RUNX1/AML1 is found in therapy-related myeloid

malignancies. Translocation t(16;21)(q24;q22) that forms a RUNX1-CBFA2T3 fusion protein

A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelomonocytic

leukemia. Inversion inv(21)(q21;q22) with USP16

10/56 Novoseek disease relationships for RUNX1 gene (see all 56 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
leukemogenesis	91.19	65	17485549 (2), 18695000 (2), 14562119 (2), 8570222 (1) (see all 47)
platelet disorder	82.61	24	15741216 (2), 15339695 (1), 14594802 (1), 14966519 (1) (see all 17)
leukemia	81.51	190	14556655 (5), 18671852 (4), 1593910 (3), 15156185 (3) (see all 99)
myeloid leukemia	81.44	48	16995417 (3), 8643684 (3), 12461752 (2), 8585955 (2) (see all 34)
myelodysplastic syndromes	79.28	45	16995417 (2), 11049997 (2), 15988144 (2), 8049440 (2) (see all 32)
b-cell childhood acute lymphoblastic leukemia	78.97	2	17889714 (1), 8834231 (1)
lymphoblastic leukemia acute childhood	75.80	14	17011991 (2), 17889714 (1), 9031076 (1), 12393286 (1) (see all 11)
acute leukemia	75.13	40	17920312 (2), 16575471 (2), 17532767 (2), 17968322 (2) (see all 28)
blast crisis	73.69	17	8412328 (2), 9447818 (1), 11835339 (1), 8751483 (1) (see all 14)
lymphoblastic leukemia acute	73.20	26	12550760 (2), 12646943 (2), 11587363 (1), 12145988 (1) (see all 22)

About this table

1 PharmGKB disease relationship for RUNX1 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872

About this table

Human Gene Mutation Database: RUNX1
Genetic Association Database: RUNX1
Human Genome Epidemiology Navigator: RUNX1 (20 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

ASCO-GI: Bortezomib Fails to Show Single-Agent Activity in Patients With Advanced Gastric Cancer

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/640 PubMed articles for RUNX1 gene (see all 640 ):

AML1, AML2, and AML3, the human members of the runt domain gene-family: cDNA structure, expression, and chromosomal localization. (PubMed id 7835892)^{2, 3, 4} Levanon D....Groner Y. (1994)
Isoforms of the Ets transcription factor NERF/ELF-2 physically interact with AML1 and mediate opposing effects on AML1-mediated transcription of the B cell-specific blk gene. (PubMed id 14970218)^{1, 3, 4} Cho J.-Y.... Libermann T.A. (2004)
AML1 fusion transcripts in t(3;21) positive leukemia: evidence of molecular heterogeneity and usage of splicing sites frequently involved in the generation of normal AML1 transcripts. (PubMed id 7533526)^{1, 3, 4} Sacchi N....Hagemeijer A. (1994)
A novel transcript encoding an N-terminally truncated AML1/PEBP2 alphaB protein interferes with transactivation and blocks granulocytic differentiation of 32Dcl3 myeloid cells. (PubMed id 9199349)^{1, 3, 4} Zhang Y.-W.... Ito Y. (1997)
The 3;21 translocation in myelodysplasia results in a fusion transcript between the AML1 gene and the gene for EAP, a highly conserved protein associated with the Epstein-Barr virus small RNA EBER 1. (PubMed id 8395054)^{1, 3, 4} Nucifora G.... Rowley J.D. (1993)
Identification of two transcripts of AML1/ETO-fused gene in t(8;21) leukemic cells and expression of wild-type ETO gene in hematopoietic cells. (PubMed id 7541640)^{1, 3, 4} Era T.... Takatsuki K. (1995)
Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohorts. (PubMed id 15654961)^{1, 3, 6} Huffmeier U....Reis A. (2005)
Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2alphaB gene associated with myeloblastic leukemias. (PubMed id 10068652)^{1, 3, 6} Osato M....Ito Y. (1999)
ALY, a context-dependent coactivator of LEF-1 and AML-1, is required for TCRalpha enhancer function. (PubMed id 9119228)^{1, 3, 4} Bruhn L.... Grosschedl R. (1997)
Study of the role of functional variants of SLC22A4, RUNX1 and SUMO4 in systemic lupus erythematosus. (PubMed id 16249223)^{1, 3, 6} Orozco G....Martin J. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 861	HGNC: 10471	AceView: RUNX1	Ensembl:ENSG00000159216	euGenes: HUgn861
ECgene: RUNX1	H-InvDB: RUNX1

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for RUNX1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=RUNX1

Licensable Technologies for RUNX1
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for RUNX1:

TaqMan ® Gene Expression Assays

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Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for RUNX1-related products

	Millipore Custom Antibody & Bulk Services
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Antibodies & Assays for RUNX1 (AML1)

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Antibodies for RUNX1

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RUNX1 Gene

protein-coding GIFtS: 74

Aliases &
Descriptions
for RUNX1

Summaries
for RUNX1

Genomic Location
for RUNX1

Proteins
for RUNX1

Protein Domains/
Families
for RUNX1

Gene Function
for RUNX1

Pathways & Interactions
for RUNX1

Drugs & Compounds
for RUNX1

Transcripts
for RUNX1

Expression
for RUNX1

Orthologs
for RUNX1

Paralogs
for RUNX1

SNPs/Variants
for RUNX1

Disorders & Mutations
for RUNX1

Medical News
for RUNX1

Publications
for RUNX1

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Genome Databases showing RUNX1

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

RUNX1 (Gene Symbol)
AML1
AML1-EVI-1
AMLCR1
CBF-alpha-2
CBFA2
EVI-1
PEBP2A2
PEBP2aB
AML1-EVI-1 fusion protein
Acute myeloid leukemia 1 protein
Core-binding factor subunit alpha-2
Oncogene AML-1
PEA2-alpha B
PEBP2-alpha B
Polyomavirus enhancer-binding protein 2 alpha B subunit
SL3-3 enhancer factor 1 alpha B subunit
SL3/AKV core-binding factor alpha B subunit
acute myeloid leukemia 1
acute myeloid leukemia 1 protein (oncogene AML-1), core-binding factor, alpha subunit
aml1 oncogene
core-binding factor, runt domain, alpha subunit 2
runt-related transcription factor 1

RUNX1 Gene

protein-coding GIFtS: 74

Aliases & Descriptionsfor RUNX1

Summariesfor RUNX1

Genomic Locationfor RUNX1

Proteinsfor RUNX1

Protein Domains/Familiesfor RUNX1

Gene Functionfor RUNX1

Pathways & Interactionsfor RUNX1

Drugs & Compoundsfor RUNX1

Transcriptsfor RUNX1

Expression for RUNX1

Orthologsfor RUNX1

Paralogsfor RUNX1

SNPs/Variantsfor RUNX1

Disorders & Mutationsfor RUNX1

Medical Newsfor RUNX1

Publicationsfor RUNX1

Search for RUNX1

Genome Databases showing RUNX1

Other Databases showing RUNX1

Specialized Databases showing RUNX1

Licensable Technologiesfor RUNX1

Servicesfor RUNX1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for RUNX1

Summaries
for RUNX1

Genomic Location
for RUNX1

Proteins
for RUNX1

Protein Domains/
Families
for RUNX1

Gene Function
for RUNX1

Pathways & Interactions
for RUNX1

Drugs & Compounds
for RUNX1

Transcripts
for RUNX1

Expression
for RUNX1

Orthologs
for RUNX1

Paralogs
for RUNX1

SNPs/Variants
for RUNX1

Disorders & Mutations
for RUNX1

Medical News
for RUNX1

Publications
for RUNX1

Licensable Technologies
for RUNX1

Services
for RUNX1