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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RUNX1 Gene

protein-coding GIFtS: 68
GCID: GC21M036160

runt-related transcription factor 1

(Previous name: acute myeloid leukemia 1 )
(Previous symbols: AML1, CBFA2)

Explore 87 diseases affiliated with
RUNX1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, and/or ¹¹Nature:405,311-319 and CroW21)
About This Section

Aliases
Runt-Related Transcription Factor 1¹ ²		SL3/AKV Core-Binding Factor Alpha B Subunit² ³
AML1¹ ² ³ ⁵		PEBP2A2¹
CBFA2¹ ² ³ ⁵		Acute Myeloid Leukemia 1¹
AMLCR1¹ ²		Acute Myeloid Leukemia 1 Protein (Oncogene AML-1), Core-Binding Factor, Alpha Subunit11
Acute Myeloid Leukemia 1 Protein² ³		AML1-EVI-1²
Oncogene AML-1² ³		EVI-1²
Polyomavirus Enhancer-Binding Protein 2 Alpha B Subunit² ³		PEBP2aB²
CBF-Alpha-2¹		AML1-EVI-1 Fusion Protein²
PEA2-Alpha B² ³		Core-Binding Factor, Runt Domain, Alpha Subunit 2²
PEBP2-Alpha B² ³		Core-Binding Factor Subunit Alpha-2³
SL3-3 Enhancer Factor 1 Alpha B Subunit² ³

External Ids:	HGNC: 10471¹	Entrez Gene: 861²	Ensembl: ENSG00000159216⁷	OMIM: 151385⁵	UniProtKB: Q01196³

Export aliases for RUNX1 gene to outside databases

Previous GC identifers: GC21M032737 GC21M035080 GC21M035081 GC21M021639

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

Entrez Gene 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, Jul 2008)

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 KAT6B-dependent transcriptional activation

Gene Wiki entry for RUNX1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

RefSeq DNA sequence:

NC_000021.8 NC_018932.1 NT_011512.11

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RUNX1 gene promoter:
AML1a C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): RUNX1 promoter sequence

Search SABiosciences Chromatin IP Primers for RUNX1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RUNX1

Genomic Location:
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)
RUNX1 gene location

GeneLoc information about chromosome 21 GeneLoc Exon Structure

(about GC identifiers)

GC21M036160:	GeneLoc	Nature:405,311-319
Start:	36,160,098 bp from pter	21,770,223 bp from centromere
End:	37,357,047 bp from pter	21,837,636 bp from centromere
Size:	1,196,950 bases	67,414 bases
Orientation:	minus strand	minus strand

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

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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 ALYREF/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 KAT6A and KAT6B. Interacts

with SUV39H1, leading to abrogation of transactivating and DNA-binding properties of RUNX1. Interacts with YAP1.

Interacts with HIPK2 (By similarity). Interaction with CDK6 prevents myeloid differentiation, reducing its

transcription transactivation activity. Found in a complex with PRMT5, RUNX1 AND CBFB

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

Sequence caution: Sequence=AAC05246.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Sequence=AAC05247.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

5 PDB 3D structures from and Proteopedia for RUNX1:

1CMO (3D)

1CO1 (3D)

1E50 (3D)

1H9D (3D)

1LJM (3D)

Secondary accessions: A8MV94 B2RMS4 D3DSG1 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

Explore the universe of human proteins at neXtProt for RUNX1: NX_Q01196

Post-translational modifications:

Phosphorylated in its C-terminus upon IL-6 treatment. Phosphorylation enhances interaction with KAT6A¹

Methylated¹

Phosphorylated in Ser-249 Thr-273 and Ser-276 by HIPK2 when associated with CBFB and DNA. This phosphorylation promotes

subsequent EP300 phosphorylation¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q01196

RUNX1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001001890.1 NP_001116079.1 NP_001745.2

ENSEMBL proteins:

ENSP00000340690 ENSP00000300305 ENSP00000382184 ENSP00000351123 ENSP00000382182

ENSP00000388189 ENSP00000405158 ENSP00000409227 ENSP00000319459 ENSP00000438019

Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: RUNX1 OriGene Protein Over-expression Lysate (see all 2): RUNX1 OriGene Custom Protein Services for RUNX1
	GenScript Custom Purified and Recombinant Proteins Services for RUNX1
	Novus Biologicals RUNX1 Proteins Novus Biologicals RUNX1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for RUNX1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005604	basement membrane	IEA	--
GO:0005634	nucleus	TAS	9199349
GO:0005730	NOT nucleolus	IDA	--
GO:0043231	intracellular membrane-bounded organelle	IDA	--

RUNX1 for ontologies About GeneDecksing

RUNX1 Antibody Products:

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	R&D Systems Antibodies for RUNX1 (RUNX1/CBFA2)
	Cell Signaling Technology (CST) Antibodies for RUNX1 (AML1)
	OriGene Antibodies (see all 3): RUNX1 OriGene Custom Antibody Services for RUNX1
	GenScript Custom Superior Antibodies Services for RUNX1
	Novus Biologicals RUNX1 Antibodies
	Abcam antibodies for RUNX1
	Uscn Antibodies for RUNX1
	ThermoFisher Antibody for RUNX1

Assay Products for RUNX1:

	Browse Kits and Assays available from EMD Millipore
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	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for RUNX1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for RUNX1

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

RUNX1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR012346 p53/RUNT-type_TF_DNA-bd

IPR000040 AML1_Runt

IPR008967 p53-like_TF_DNA-bd

IPR016554 TF_Runt-rel_RUNX

IPR013711 RunxI

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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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 KAT6B-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)

miRNA Products:		miRTarBase miRNAs that target RUNX1: hsa-mir-106a (MIRT003743), hsa-mir-20a (MIRT003742), hsa-mir-17 (MIRT003741)

		OriGene 3'-UTR Clone (see all 3): RUNX1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RUNX1
		8/152 QIAGEN miScript miRNA Assays for microRNAs that regulate RUNX1 (see all 152):
		hsa-miR-579 hsa-miR-631 hsa-miR-106a hsa-miR-199a-3p hsa-miR-128 hsa-miR-138-2* hsa-miR-200b hsa-miR-509-3-5p

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RUNX1 (see all 7) OriGene shRNA RFP: RUNX1 OriGene siRNA: RUNX1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RUNX1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for RUNX1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RUNX1 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RUNX1 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): RUNX1 (NM_001001890)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for RUNX1
		Search LifeMap BioReagents cell lines for RUNX1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUNX1

Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000975	regulatory region DNA binding	IDA	--
GO:0003677	DNA binding	IDA	12217689
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0005509	calcium ion binding	IDA	12217689
GO:0005515	protein binding	IPI	9751710

RUNX1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for RUNX1:

Decreased influenza A H1N1 (A/

Decreased influenza A/WSN/33 r

Animal Models:
Mouse knock-outs for RUNX1: Runx1^tm1Sata Runx1^tm1Dow Runx1^tm1.1Soga Runx1^tm1Spe Runx1^tm1Yg
15/16 MGI mutant phenotypes (inferred from 40 alleles) (MGI details for Runx1) (see all 16):

cardiovascular system	cellular	embryogenesis	growth/size	hematopoietic system
homeostasis/metabolism	immune system	integument	liver/biliary system	mortality/aging
nervous system	no phenotypic analysis	normal	respiratory system	skeleton

RUNX1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lymphocyte Signaling

Lymphocyte Signaling

1.00

TGF-beta Signaling Pathways

TGF-beta Signaling Pathways

1.00

Chronic myeloid leukemia

Chronic myeloid leukemia

1.00

Pathways in cancer

Pathways in cancer

1.00

Endometrial cancer

Acute myeloid leukemia

0.39

Pathway sources
See GeneCards unified pathways
Show all pathways

1 R&D Systems Pathway for RUNX1

TGF-beta Signaling Pathways

1 Cell Signaling Technology (CST) Pathway for RUNX1

Lymphocyte Signaling

3 Kegg Pathways (Kegg details for RUNX1):

	Pathways in cancer
	Chronic myeloid leukemia
	Acute myeloid leukemia

RUNX1 for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/93 Interacting proteins for RUNX1 (Q01196^{1, 2, 3} ENSP00000300305⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 93)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIPK2	Q9H2X6²^,³	MINT-2982465 MINT-2982510 MINT-2982487 MINT-2984544 I2D: score=3
TAL1	P17542²^,³, ENSP00000294339⁴	MINT-8142169 MINT-8142126 I2D: score=2 STRING: ENSP00000294339
ELF2	Q15723¹^,³, ENSP00000265495⁴	EBI-925904,EBI-956941 I2D: score=4 STRING: ENSP00000265495
TCF12	Q99081²^,³, ENSP00000331057⁴	MINT-8142126 I2D: score=3 STRING: ENSP00000331057
CEBPA	P49715²^,³	MINT-4791133 I2D: score=2

About this table

Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	IEA	--
GO:0001701	in utero embryonic development	IEA	--
GO:0001889	liver development	IEA	--
GO:0002318	myeloid progenitor cell differentiation	IEA	--
GO:0006351	transcription, DNA-dependent	IEA	--

RUNX1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

RUNX1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RUNX1
10/17 Novoseek chemical compound relationships for RUNX1 gene (see all 17) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
zinc	45.6	42	9209439 (3), 17575132 (3), 9834202 (2), 16954386 (2) (see all 23)
retinoic acid	18.7	18	9009083 (10), 18728026 (2), 15809276 (1), 7598688 (1)
imatinib	10.3	3	17360569 (2), 18202228 (1)
proline	8.76	1	8668214 (1)
etoposide	8.38	6	16434323 (2), 14761607 (2), 11157492 (1), 18183572 (1)
tyrosine	7.47	3	16675540 (1), 16467864 (1), 16424869 (1)
arsenite	2.05	2	17145882 (1)
oligonucleotide	0	4	7972130 (1), 18511808 (1), 8499624 (1)
sucrose	0	1	12850377 (1)
threonine	0	1	8781439 (1)

Search CenterWatch for drugs/clinical trials and news about RUNX1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RUNX1 gene (3 alternative transcripts):

NM_001001890.2 NM_001122607.1 NM_001754.4

Unigene Cluster for RUNX1:

Runt-related transcription factor 1

Hs.149261 [show with all ESTs]

Unigene Representative Sequence: NM_001001890

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000344691(uc002yuh.3) ENST00000300305(uc010gmu.3 uc002yuk.4)

ENST00000482318(uc002yul.1 uc002yum.1) ENST00000399240 ENST00000479325(uc002yun.1)

ENST00000358356(uc002yuo.1) ENST00000469087(uc010gmw.1) ENST00000399237

ENST00000467577 ENST00000455571 ENST00000475045(uc002yut.1) ENST00000416754

ENST00000468726 ENST00000467692 ENST00000494829 ENST00000460207 ENST00000437180(uc010gmv.3 uc002yuj.4)

ENST00000325074

miRNA Products:		OriGene 3'-UTR Clone (see all 3): RUNX1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RUNX1
		8/152 QIAGEN miScript miRNA Assays for microRNAs that regulate RUNX1 (see all 152):
		hsa-miR-579 hsa-miR-631 hsa-miR-106a hsa-miR-199a-3p hsa-miR-128 hsa-miR-138-2* hsa-miR-200b hsa-miR-509-3-5p

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RUNX1 (see all 7) OriGene shRNA RFP: RUNX1 OriGene siRNA: RUNX1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RUNX1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RUNX1 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RUNX1 (see all 3) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		SABiosciences RT² qPCR Primer Assay in human, mouse / rat RUNX1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RUNX1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RUNX1

Additional cDNA sequence:

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

BC136381.1 BC144053.1 D10570.1 D43967.1 D43968.1 D43969.1 D89788.1 D89789.1

D89790.1 GU070939.1 GU070941.1 GU070942.1 GU070943.1 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.121140186 DT.40128004 DT.95144419 DT.95228859

DT.95228861 DT.91995611 DT.121140195 DT.95349738 DT.40224072 DT.433898 DT.92474132 DT.95228867

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

F20669 BM469288 AA441820 NM_001001890 AI871685 BG057820 BQ004414 AI371266

CR610970 CA448298 BQ182993 BQ009347 NM_001754 BF063731 BG499973 CA312841

CA435741 CA503244 D43967 AI368901 AA425238 BQ772210 AI361423 BE046898

GeneLoc Exon Structure

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

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:																							-		-		-

ECgene alternative splicing isoforms for RUNX1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RUNX1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

RUNX1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/37 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 37)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Autopod Epiphyseal End

Chondrocytes

Selective marker (cell-identifying gene)

Bone, Cartilage

Bone

Autopod Growth Plate

Prehypertrophic Chondrocytes

Bone, Cartilage

Bone

Bone Marrow

Hematopoietic Stem Cells

Blood

Bone, Cartilage

Prehypertrophic Chondrocytes

Bone, Cartilage

Bone, Cartilage

Prehypertrophic Chondrocytes

Bone, Cartilage

Bone, Cartilage

Prehypertrophic Chondrocytes

Bone, Cartilage

Bone

Stylopod Epiphyseal End

Chondrocytes

Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/12 LifeMap Cells (see all 12)

Name

Category

HSF-1 (UC01) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

PureStem™ progenitor EN27 (Embryonic Progenitor Cell)

Mesoderm precursors (Generation of skelet...)

PDGFRA and ECD positive cells (Generation of skelet...)

Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced 7SMOO32 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced 7PEND24 cells (HyStem+TGF?3+GDF5 in...)

Bone

TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)

Bone, Cartilage

See RUNX1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RUNX1

SOURCE GeneReport for Unigene cluster: Hs.149261

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

SABiosciences Expression via Pathway-Focused PCR Arrays including RUNX1 (see all 12):

Oncogenes & Tumor Suppressor Genes in human mouse rat

Stem Cell Transcription Factors in human mouse rat

Angiogenic Growth Factors in human mouse rat

TGFB/BMP Signaling Pathway in human mouse rat

Leukemia in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RUNX1 Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUNX1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for RUNX1 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	Q90813_CHICK⁶	ch-runtB2	88(a)	1 ↔ 1	1(109473589-109621326)
lizard (Anolis carolinensis)	Reptilia	RUNX1⁶	--	84(a)	1 ↔ 1	3(142269742-142274044)
African clawed frog (Xenopus laevis)	Amphibia	MGC69003²	hypothetical protein MGC69003	81.45(n)		BC057739.1
zebrafish (Danio rerio)	Actinopterygii	runx1²	runt-related transcription factor 1	74.68(n)		58126 AF391125.1
fruit fly (Drosophila melanogaster)	Insecta	CG1379³	transcription factor	74(a) (best of 4)		--
worm (Caenorhabditis elegans)	Secernentea	rnt-1⁶	RuNT related family member (rnt-1)	28(a)	1 → many	I(5776157-5788612)

ENSEMBL Gene Tree for RUNX1 (if available)
TreeFam Gene Tree for RUNX1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RUNX1 gene

RUNX2² RUNX3²

6 SIMAP similar genes for RUNX1 using alignment to 6 protein entries: RUNX1_HUMAN (see all proteins):

C20orf112/RUNX1 fusion RUNX1/C20orf112 fusion RUNX1/CBFA2T2 fusion RUNX3 RUNX2 AML2

RUNX1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 21 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs74315450^1,2	C	pathogenic	21710737(-)	`GCCCCA/GAGAAC`	6	Q R	mis¹		0	--	--	--	--
rs74315451^1,2	C	pathogenic	21731919(-)	`TGATGC/GCTGGC`	6	P A	mis¹		0	--	--	--	--
rs113132177^1,2		--	21638621(+)	`CTCACC/TGCAAC`	2	--	ds500¹		1		CSA	2
rs111920684^1,2		--	21638802(+)	`CCCAAC/AGTGCT`	2	--	ds500¹		1		CSA	2
rs112740610^1,2		--	21638834(+)	`CGCGCC/TGGCCT`	2	--	ds500¹		1		CSA	2
rs113048464^1,2		--	21638930(+)	`CCAGGC/GCCTCA`	2	--	ds500¹		2		CSA WA	120
rs79178911^1,2	C,	--	21639053(+)	`TCCCAA/GCCCTC`	2	--	ds500¹		4		CSA WA EA	241
rs78335539^1,2	C,	--	21639390(+)	`GCTTGA/GCAGTT`	2	--	ut3¹		2		CSA WA	120
rs201963806^1,2	C	--	21639473(+)	`GTGACA/CAAACC`	2	--	ut3¹		0	--	--	--	--
rs113375138^1,2	C,	--	21639848(+)	`AAAAAT/CTGAAA`	2	--	ut3¹		2		CSA WA	120

HapMap Linkage Disequilibrium report for RUNX1 (36160098 - 36410098 bp, first 250kb of RUNX1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for RUNX1
2 CNVs: 67779 47936
2 Indels: 46159 103081
Human Gene Mutation Database (HGMD): RUNX1

5/29 SABiosciences Cancer Mutation PCR Assays for RUNX1 (see all 29):

Cosmic Id	AA Change
24755	p.?
24768	p.G165V
24727	p.G69R
24771	p.R201*
24731	p.R204Q

5 SABiosciences Cancer Mutation PCR Arrays containing RUNX1:

Hematopoietic Neoplasms

Acute Myeloid Leukemia

Cancer Comprehensive Panel 384HT

Oncogene Panel 384HT

Myelodysplastic Syndromes

2 SABiosciences qBiomarker Copy Number PCR Arrays containing RUNX1:

Oncogenes & Tumor Suppressor Genes 384HC

Pancreatic Cancer

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RUNX1

DNA2.0 Custom Variant and Variant Library Synthesis for RUNX1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RUNX1 for disorders           About GeneDecksing

OMIM gene information: 151385
OMIM disorders: 601626  601399
UniProtKB/Swiss-Prot: RUNX1_HUMAN, Q01196

Note=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

Note=A chromosomal aberration involving RUNX1/AML1 is a cause of therapy-related myelodysplastic syndrome

(T-MDS). Translocation t(3;21)(q26;q22) with EAP or MECOM

Note=A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelogenous leukemia (CML).

Translocation t(3;21)(q26;q22) with EAP or MECOM

Note=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

Note=A chromosomal aberration involving RUNX1 is found in acute leukemia. Translocation t(11,21)(q13;q22) that

forms a MACROD1-RUNX1 fusion protein

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

Note=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

Note=A chromosomal aberration involving RUNX1/AML1 is a cause of chronic myelomonocytic leukemia. Inversion

inv(21)(q21;q22) with USP16

20/87 diseases for RUNX1 (see all 87): About MalaCards

leukemia acute myeloid leukemia myeloid leukemia familial platelet disorder with propensity to acute myelogenous leukemia

ring chromosome 21 familial platelet disorder with associated myeloid malignancy hematopoiesis ring chromosomes

down syndrome critical region juvenile myelomonocytic leukemia myelomonocytic leukemia williams-beuren syndrome

dna topoisomerase ii familial myelodysplasia megakaryoblastic leukemia lymphoblastic leukemia

cleidocranial dysplasia acute lymphoblastic leukemia myeloid malignancy stem cell leukemia

3 diseases from the University of Copenhagen DISEASES database for RUNX1:

Leukemia Cleidocranial dysplasia Down syndrome

10/62 Novoseek disease relationships for RUNX1 gene (see all 62) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
leukemogenesis	91.1	71	17485549 (2), 18695000 (2), 20478528 (2), 14562119 (2) (see all 51)
platelet disorder	82.5	26	15741216 (2), 15339695 (1), 14594802 (1), 14966519 (1) (see all 19)
myeloid leukemia	81.7	51	16995417 (3), 8643684 (3), 12461752 (2), 8585955 (2) (see all 37)
leukemia	81.6	212	14556655 (5), 18671852 (4), 19385966 (3), 20416203 (3) (see all 99)
myelodysplastic syndromes	79.6	47	16995417 (2), 11049997 (2), 15988144 (2), 8049440 (2) (see all 34)
b-cell childhood acute lymphoblastic leukemia	77.4	2	17889714 (1), 8834231 (1)
acute leukemia	75.5	49	17920312 (2), 16575471 (2), 20306249 (2), 17532767 (2) (see all 33)
lymphoblastic leukemia acute childhood	74	14	17011991 (2), 17889714 (1), 9031076 (1), 12393286 (1) (see all 11)
lymphoblastic leukemia acute	73.5	29	12550760 (2), 12646943 (2), 11587363 (1), 12145988 (1) (see all 24)
blast crisis	72.2	17	8412328 (2), 9447818 (1), 11835339 (1), 8751483 (1) (see all 14)

Genetic Association Database (GAD): RUNX1
Human Genome Epidemiology (HuGE) Navigator: RUNX1 (45 documents)

Export disorders for RUNX1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RUNX1 gene, integrated from 9 sources (see all 836):
(articles sorted by number of sources associating them with RUNX1)

Utopia: connect your pdf to the dynamic
world of online information

AML1, AML2, and AML3, the human members of the runt domain gene- family: cDNA structure, expression, and chromosomal localization. (PubMed id 7835892)^{1, 2, 3} 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, 2, 9} 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, 2, 9} Sacchi N....Hagemeijer A. (1994)
LRP16 is fused to RUNX1 in monocytic leukemia cell line with t(11;21)(q13;q22). (PubMed id 17532767)^{1, 2, 9} Imagama S.... Naoe T. (2007)
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, 2, 9} Zhang Y.-W.... Ito Y. (1997)
Cdk6 blocks myeloid differentiation by interfering with Runx1 DNA binding and Runx1-C/EBPalpha interaction. (PubMed id 17431401)^{1, 2, 9} Fujimoto T....Nerlov C. (2007)
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, 2, 9} 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, 2, 9} Era T.... Takatsuki K. (1995)
PEBP2-beta/CBF-beta-dependent phosphorylation of RUNX1 and p300 by HIPK2: implications for leukemogenesis. (PubMed id 18695000)^{1, 2, 9} Wee H.J....Ito Y. (2008)
Lack of evidence for genetic association to RUNX1 binding site at PSORS2 in different German psoriasis cohorts. (PubMed id 15654961)^{1, 4, 9} Huffmeier U....Reis A. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 861	HGNC: 10471	AceView: RUNX1	Ensembl:ENSG00000159216	euGenes: HUgn861
ECgene: RUNX1	Kegg: 861	H-InvDB: RUNX1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for RUNX1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for RUNX1	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RUNX1

Intellectual Property for RUNX1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for RUNX1 gene:
Search GeneIP for patents involving RUNX1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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RUNX1 Gene

runt-related transcription factor 1

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RUNX1 (Gene Symbol)
Runt-Related Transcription Factor 1
AML1
CBFA2
AMLCR1
Acute Myeloid Leukemia 1 Protein
Oncogene AML-1
Polyomavirus Enhancer-Binding Protein 2 Alpha B Subunit
CBF-Alpha-2
PEA2-Alpha B
PEBP2-Alpha B
SL3-3 Enhancer Factor 1 Alpha B Subunit
SL3/AKV Core-Binding Factor Alpha B Subunit
PEBP2A2
Acute Myeloid Leukemia 1
Acute Myeloid Leukemia 1 Protein (Oncogene AML-1), Core-Binding Factor, Alpha Subunit
AML1-EVI-1
EVI-1
PEBP2aB
AML1-EVI-1 Fusion Protein
Core-Binding Factor, Runt Domain, Alpha Subunit 2
Core-Binding Factor Subunit Alpha-2

JUVENILE MYELOMONOCYTIC LEUKEMIA
Gastric Cancer
Myeloid Leukemia
Lymphoblastic Leukemia Acute Childhood
Down Syndrome
Autoimmune Diseases
Colon Cancer
promyelocytic leukemia
ABNORMAL PLATELETS
Retinoblastoma
Monosomy
Leukemia Myelomonocytic Chronic
dysplasia
Megakaryoblastic Leukemia Acute
Carcinoma
ACUTE LEUKEMIA
Minimal Residual Disease
Myeloid Leukemia Chronic
Leukemia
Breast Cancer
Blast Crisis
Hematopoietic Malignancies
platelet disorder
HEPATOCELLULAR CARCINOMA
Cancer
AML adult
Hematologic Malignancies
Thrombocytopenia
somatic mutations
Lymphoma
Ovarian Cancer
Myeloproliferative Disorders
B-cell childhood acute lymphoblastic leukemia
T-ALL
Bleeding
Burkitt Lymphoma
Germ-Line Mutation
Monocytic leukemia
solid tumor
AML childhood
Carcinoma Squamous Cell
Myeloid Leukemia Acute M2
Psoriasis
Leukemia Promyelocytic Acute
secondary AML
Rheumatoid Arthritis
Chromosomal Aberrations
Trisomy
Tumors
Metastasis
residual disease
leukemogenesis
Lymphoblastic Leukemia Acute
Autoimmunity
Sarcoma
platelet dysfunction
Anemia Refractory
Leukemia Myelomonocytic Acute
Myelodysplastic Syndromes
LEUKAEMIA LYMPHOCYTIC
neoplastic transformation
Lupus Erythematosus Systemic

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RUNX1 Gene

runt-related transcription factor 1

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