InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: RUNX1

Summary

InnateDB Gene

IDBG-2825.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RUNX1

Gene Name

runt-related transcription factor 1

Synonyms

AML1; AML1-EVI-1; AMLCR1; CBFA2; EVI-1; PEBP2aB

Species

Homo sapiens

Ensembl Gene

ENSG00000159216

Encoded Proteins

IDBP-2827

runt-related transcription factor 1

IDBP-2831

runt-related transcription factor 1

IDBP-2833

runt-related transcription factor 1

IDBP-231095

runt-related transcription factor 1

IDBP-231097

runt-related transcription factor 1

IDBP-364608

runt-related transcription factor 1

IDBP-364637

runt-related transcription factor 1

IDBP-364638

runt-related transcription factor 1

IDBP-810072

runt-related transcription factor 1

IDBP-810078

runt-related transcription factor 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 21:34787801-36004667

Strand

Reverse strand

Band

q22.12

Transcripts

ENST00000300305	ENSP00000300305
ENST00000344691	ENSP00000340690
ENST00000358356	ENSP00000351123
ENST00000399240	ENSP00000382184
ENST00000399237	ENSP00000382182
ENST00000437180	ENSP00000409227
ENST00000455571	ENSP00000388189
ENST00000416754	ENSP00000405158
ENST00000482318	ENSP00000477067
ENST00000479325
ENST00000469087
ENST00000467577
ENST00000475045	ENSP00000477072
ENST00000468726
ENST00000467692
ENST00000494829
ENST00000460207

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 120 experimentally validated interaction(s) in this database.
They are also associated with 42 interaction(s) predicted by orthology.

Experimentally validated
Total	120 [view]
Protein-Protein	101 [view]
Protein-DNA	19 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	42 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000975	regulatory region DNA binding
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008134	transcription factor binding
GO:0042803	protein homodimerization activity
GO:0046982	protein heterodimerization activity
GO:0070491	repressing transcription factor binding

Biological Process

GO:0001501	skeletal system development
GO:0001701	in utero embryonic development
GO:0001889	liver development
GO:0002318	myeloid progenitor cell differentiation
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007417	central nervous system development
GO:0009966	regulation of signal transduction
GO:0030097	hemopoiesis
GO:0030099	myeloid cell differentiation
GO:0030182	neuron differentiation
GO:0030853	negative regulation of granulocyte differentiation
GO:0030854	positive regulation of granulocyte differentiation
GO:0031069	hair follicle morphogenesis
GO:0035162	embryonic hemopoiesis
GO:0045766	positive regulation of angiogenesis
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048266	behavioral response to pain
GO:0048666	neuron development
GO:0048935	peripheral nervous system neuron development
GO:0060216	definitive hemopoiesis
GO:0071336	regulation of hair follicle cell proliferation
GO:0071425	hematopoietic stem cell proliferation
GO:0071560	cellular response to transforming growth factor beta stimulus
GO:2000872	positive regulation of progesterone secretion

Cellular Component

GO:0005604	basement membrane
GO:0005634	nucleus

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000022952

View Gene Order

ENSBTAG00000004742

Not yet available

Pathways

NETPATH

NetPath_2

AndrogenReceptor pathway

NetPath_7

TGF_beta_Receptor pathway

NetPath_21

RANKL pathway

REACTOME

KEGG

hsa05221

Acute myeloid leukemia pathway

hsa05220

Chronic myeloid leukemia pathway

hsa05200

Pathways in cancer pathway

INOH

PID NCI

deltanp63pathway

Validated transcriptional targets of deltaNp63 isoforms

Cross-References

SwissProt

Q01196

TrEMBL

V9GYT5

UniProt Splice Variant

Entrez Gene

861

UniGene

Hs.149261 Hs.536609 Hs.589909 Hs.610169 Hs.617234 Hs.717697

RefSeq

NM_001754 XM_005261068 NM_001001890 NM_001122607

HUGO

HGNC:10471

OMIM

151385

CCDS

CCDS13639 CCDS42922 CCDS46646

HPRD

IMGT

EMBL

AF015262 AF015720 AF015721 AF015722 AF015723 AF015724 AF015725 AF015726 AF020800 AF020801 AF020802 AF020803 AF022141 AF022794 AF025841 AF027207 AF051934 AF129107 AF129108 AJ229043 AP000330 AP000331 AP000332 AP000333 AP000334 AP000687 AP000688 BC136380 BC136381 BC144053 CH471079 D10570 D13979 D14822 D14823 D43967 D43968 D43969 D89788 D89789 D89790 L21756 L34598 S50186 S60998 S69002 S74092 S76345 S76346 S76350 S78158 S78159 S78496 U19601 X79549 X90976 X90979

GenPept

AAA03086 AAA51720 AAB29907 AAB33729 AAB33730 AAB33731 AAB34819 AAB34820 AAB51691 AAC05246 AAC05247 AAI36381 AAI36382 AAI44054 BAA01426 BAA03089 BAA03559 BAA03560 BAA07902 BAA07903 BAA07904 BAA14020 BAA14021 BAA14022 CAA13070 CAA56092 CAA62464 CAA62466 EAX09769 EAX09770

RNA Seq Atlas

100506403 101928269 861