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RUNX1

CANCER ATLAS

Gene description

 Runt-related transcription factor 1

Protein class

 Cancer-related genes, Disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA004176

GENE INFORMATION

Gene name

 RUNX1 (DataBase of Aberrant 5' Splice Sites)

Synonyms

 AML1, AMLCR1, CBFA2, PEBP2A2

Description

 Runt-related transcription factor 1 (HGNC Symbol)

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]

Chromosome

 21

Cytoband

 q22.12

Chromosome location (bp)

 34787801 - 36004667

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000159216 (version 83.38)

Entrez gene

 861

UniProt

 Q01196 (UniProt - Evidence at protein level)

neXtProt

 NX_Q01196

Antibodypedia

 RUNX1 antibodies

PROTEIN BROWSER
RUNX1-001
RUNX1-002
RUNX1-004
RUNX1-005
RUNX1-009
RUNX1-010
RUNX1-012
RUNX1-013
RUNX1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
RUNX1-001
ENSP00000340690
ENST00000344691
Q01196 [Direct mapping]
Runt-related transcription factor 1
Show all
Predicted intracellular proteins
Plasma proteins
Transcription factors
   Immunoglobulin fold
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000975 [regulatory region DNA binding]
GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding]
GO:0001047 [core promoter binding]
GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008134 [transcription factor binding]
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:0032743 [positive regulation of interleukin-2 production]
GO:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
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:0046982 [protein heterodimerization activity]
GO:0048935 [peripheral nervous system neuron development]
GO:0071425 [hematopoietic stem cell proliferation]
Show all
 453 aa
48.7 kDa 		No 0
RUNX1-002
ENSP00000300305
ENST00000300305
Q01196 [Direct mapping]
Runt-related transcription factor 1
Show all
Predicted intracellular proteins
Plasma proteins
Transcription factors
   Immunoglobulin fold
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000975 [regulatory region DNA binding]
GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding]
GO:0001047 [core promoter binding]
GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0001501 [skeletal system development]
GO:0001701 [in utero embryonic development]
GO:0001889 [liver development]
GO:0002318 [myeloid progenitor cell differentiation]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005604 [basement membrane]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007417 [central nervous system development]
GO:0008134 [transcription factor binding]
GO:0008285 [negative regulation of cell proliferation]
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:0032743 [positive regulation of interleukin-2 production]
GO:0035162 [embryonic hemopoiesis]
GO:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
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:0046982 [protein heterodimerization activity]
GO:0048266 [behavioral response to pain]
GO:0048663 [neuron fate commitment]
GO:0048666 [neuron development]
GO:0048935 [peripheral nervous system neuron development]
GO:0060216 [definitive hemopoiesis]
GO:0070491 [repressing transcription factor binding]
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:1903431 [positive regulation of cell maturation]
Show all
 480 aa
51.8 kDa 		No 0
RUNX1-004
ENSP00000405158
ENST00000416754
A0A0C4DG58 [Direct mapping]
Runt-related transcription factor 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0030182 [neuron differentiation]
Show all
 32 aa
3.7 kDa 		No 0
RUNX1-005
ENSP00000351123
ENST00000358356
Q01196 [Direct mapping]
Runt-related transcription factor 1
Show all
Predicted intracellular proteins
Plasma proteins
Transcription factors
   Immunoglobulin fold
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000975 [regulatory region DNA binding]
GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding]
GO:0001047 [core promoter binding]
GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008134 [transcription factor binding]
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:0032743 [positive regulation of interleukin-2 production]
GO:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
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:0046982 [protein heterodimerization activity]
GO:0048935 [peripheral nervous system neuron development]
GO:0071425 [hematopoietic stem cell proliferation]
Show all
 250 aa
27.4 kDa 		No 0
RUNX1-009
ENSP00000382184
ENST00000399240
H9KVB1 [Direct mapping]
Runt-related transcription factor 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0030182 [neuron differentiation]
GO:0043231 [intracellular membrane-bounded organelle]
Show all
 389 aa
41.4 kDa 		No 0
RUNX1-010
ENSP00000388189
ENST00000455571
C9JWM1 [Direct mapping]
Runt-related transcription factor 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0030182 [neuron differentiation]
Show all
 140 aa
14.9 kDa 		No 0
RUNX1-012
ENSP00000382182
ENST00000399237
A8MZI9 [Direct mapping]
Runt-related transcription factor 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005524 [ATP binding]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0030182 [neuron differentiation]
Show all
 256 aa
27.8 kDa 		No 0
RUNX1-013
ENSP00000477072
ENST00000475045
V9GYT5 [Direct mapping]
Runt-related transcription factor 1
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0030182 [neuron differentiation]
Show all
 49 aa
5.5 kDa 		No 0
RUNX1-201
ENSP00000409227
ENST00000437180
Q01196 [Direct mapping]
Runt-related transcription factor 1
Show all
Predicted intracellular proteins
Plasma proteins
Transcription factors
   Immunoglobulin fold
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000975 [regulatory region DNA binding]
GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding]
GO:0001047 [core promoter binding]
GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008134 [transcription factor binding]
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:0032743 [positive regulation of interleukin-2 production]
GO:0042803 [protein homodimerization activity]
GO:0043231 [intracellular membrane-bounded organelle]
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:0046982 [protein heterodimerization activity]
GO:0048935 [peripheral nervous system neuron development]
GO:0071425 [hematopoietic stem cell proliferation]
Show all
 480 aa
51.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.