RUNX1 - Gene info - The Human Protein Atlas

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

Cytoband

q22.12

Chromosome location (bp)

34787801 - 36004667

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000159216 (version 78.38)

Entrez gene

861

UniProt

Q01196 (UniProt - Evidence at protein level)

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RUNX1-001

ENSP00000340690
ENST00000344691

Q01196
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Q01196 [Direct mapping]
Runt-related transcription factor 1

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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)

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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:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0008134 [transcription factor binding]
GO:0030097 [hemopoiesis]
GO:0030099 [myeloid cell differentiation]
GO:0030853 [negative regulation of granulocyte differentiation]
GO:0030854 [positive regulation of granulocyte differentiation]
GO:0042803 [protein homodimerization activity]
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]

453

48.7

RUNX1-002

ENSP00000300305
ENST00000300305

Q01196
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Q01196 [Direct mapping]
Runt-related transcription factor 1
V9GYT5 [Target identity:10%; Query identity:100%]
Runt-related transcription factor 1 {ECO:0000313|Ensembl:ENSP00000477072}

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GO:0000975 [regulatory region DNA 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 [sequence-specific DNA binding transcription factor activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005604 [basement membrane]
GO:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007417 [central nervous system development]
GO:0008134 [transcription factor binding]
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:0042803 [protein homodimerization activity]
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: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:2000872 [positive regulation of progesterone secretion]

480

51.8

RUNX1-004

ENSP00000405158
ENST00000416754

Q01196
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Q01196 [Direct mapping]
Runt-related transcription factor 1
X5CR08 [Target identity:100%; Query identity:96%]
RUNX1/RUNX1T1 fusion protein {ECO:0000313|EMBL:AHW40009.1}

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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:0005634 [nucleus]
GO:0006351 [transcription, DNA-templated]
GO:0008134 [transcription factor binding]
GO:0030097 [hemopoiesis]
GO:0030099 [myeloid cell differentiation]
GO:0030853 [negative regulation of granulocyte differentiation]
GO:0030854 [positive regulation of granulocyte differentiation]
GO:0042803 [protein homodimerization activity]
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]

3.7

RUNX1-005

ENSP00000351123
ENST00000358356

Q01196
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Q01196 [Direct mapping]
Runt-related transcription factor 1

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250

27.4

RUNX1-009

ENSP00000382184
ENST00000399240

H9KVB1
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H9KVB1 [Target identity:100%; Query identity:100%]
Runt-related transcription factor 1 {ECO:0000313|Ensembl:ENSP00000382184}

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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 (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)

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GO:0003677 [DNA binding]
GO:0003700 [sequence-specific DNA binding transcription factor activity]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]

389

41.4

RUNX1-010

ENSP00000388189
ENST00000455571

C9JWM1
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C9JWM1 [Target identity:100%; Query identity:100%]
Runt-related transcription factor 1 {ECO:0000313|Ensembl:ENSP00000388189}

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GO:0003677 [DNA binding]
GO:0003700 [sequence-specific DNA binding transcription factor activity]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]

140

14.9

RUNX1-012

ENSP00000382182
ENST00000399237

A8MZI9
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A8MZI9 [Target identity:100%; Query identity:100%]
Runt-related transcription factor 1 {ECO:0000313|Ensembl:ENSP00000382182}

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GO:0003677 [DNA binding]
GO:0003700 [sequence-specific DNA binding transcription factor activity]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]

256

27.8

RUNX1-013

ENSP00000477072
ENST00000475045

V9GYT5
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V9GYT5 [Target identity:100%; Query identity:100%]
Runt-related transcription factor 1 {ECO:0000313|Ensembl:ENSP00000477072}
X5CC30 [Target identity:100%; Query identity:90%]
RUNX1/RUNX1T1 fusion protein {ECO:0000313|EMBL:AHW40016.1}

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5.5

RUNX1-201

ENSP00000409227
ENST00000437180

Q01196
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Q01196 [Direct mapping]
Runt-related transcription factor 1
V9GYT5 [Target identity:10%; Query identity:100%]
Runt-related transcription factor 1 {ECO:0000313|Ensembl:ENSP00000477072}

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480

51.8

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