ENSG00000159216


Homo sapiens

Features
Gene ID: ENSG00000159216
  
Biological name :RUNX1
  
Synonyms : Q01196 / runt related transcription factor 1 / RUNX1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 21
Strand: -1
Band: q22.12
Gene start: 34787801
Gene end: 36004667
  
Corresponding Affymetrix probe sets: 1563591_at (Human Genome U133 Plus 2.0 Array)   1570350_at (Human Genome U133 Plus 2.0 Array)   208129_x_at (Human Genome U133 Plus 2.0 Array)   209359_x_at (Human Genome U133 Plus 2.0 Array)   209360_s_at (Human Genome U133 Plus 2.0 Array)   210365_at (Human Genome U133 Plus 2.0 Array)   210805_x_at (Human Genome U133 Plus 2.0 Array)   211179_at (Human Genome U133 Plus 2.0 Array)   211180_x_at (Human Genome U133 Plus 2.0 Array)   211181_x_at (Human Genome U133 Plus 2.0 Array)   211182_x_at (Human Genome U133 Plus 2.0 Array)   211620_x_at (Human Genome U133 Plus 2.0 Array)   217263_x_at (Human Genome U133 Plus 2.0 Array)   237697_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000405158
Ensembl peptide - ENSP00000388189
Ensembl peptide - ENSP00000409227
Ensembl peptide - ENSP00000477072
Ensembl peptide - ENSP00000477067
Ensembl peptide - ENSP00000300305
Ensembl peptide - ENSP00000340690
Ensembl peptide - ENSP00000351123
Ensembl peptide - ENSP00000382182
Ensembl peptide - ENSP00000382184
NCBI entrez gene - 861     See in Manteia.
OMIM - 151385
RefSeq - XM_017028487
RefSeq - NM_001001890
RefSeq - NM_001122607
RefSeq - NM_001754
RefSeq - XM_005261068
RefSeq - XM_005261069
RefSeq - XM_011529766
RefSeq - XM_011529767
RefSeq - XM_011529768
RefSeq - XM_011529770
RefSeq Peptide - NP_001001890
RefSeq Peptide - NP_001116079
RefSeq Peptide - NP_001745
swissprot - H9KVB1
swissprot - V9GYT3
swissprot - Q01196
swissprot - A0A0C4DG58
swissprot - V9GYT5
swissprot - C9JWM1
swissprot - A8MZI9
Ensembl - ENSG00000159216
  
Related genetic diseases (OMIM): 601399 - Platelet disorder, familial, with associated myeloid malignancy, 601399
  601626 - Leukemia, acute myeloid, 601626

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 runx1ENSDARG00000087646Danio rerio
 RUNX1ENSGALG00000016022Gallus gallus
 Runx1ENSMUSG00000022952Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RUNX2 / Q13950 / runt related transcription factor 2ENSG0000012481361
RUNX3 / Q13761 / runt related transcription factor 3ENSG0000002063354


Protein motifs (from Interpro)
Interpro ID Name
 IPR000040  Acute myeloid leukemia 1 protein (AML1)/Runt
 IPR008967  p53-like transcription factor, DNA-binding
 IPR012346  p53/RUNT-type transcription factor, DNA-binding domain superfamily
 IPR013524  Runt domain
 IPR013711  Runx, C-terminal domain
 IPR016554  Runt-related transcription factor RUNX
 IPR027384  Runx, central domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001503 ossification IBA
 biological_processGO:0001959 regulation of cytokine-mediated signaling pathway TAS
 biological_processGO:0002062 chondrocyte differentiation IBA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0030097 hemopoiesis IDA
 biological_processGO:0030111 regulation of Wnt signaling pathway TAS
 biological_processGO:0030854 positive regulation of granulocyte differentiation IMP
 biological_processGO:0032743 positive regulation of interleukin-2 production IMP
 biological_processGO:0033146 regulation of intracellular estrogen receptor signaling pathway TAS
 biological_processGO:0045589 regulation of regulatory T cell differentiation TAS
 biological_processGO:0045616 regulation of keratinocyte differentiation TAS
 biological_processGO:0045637 regulation of myeloid cell differentiation TAS
 biological_processGO:0045652 regulation of megakaryocyte differentiation TAS
 biological_processGO:0045766 positive regulation of angiogenesis ISS
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0048935 peripheral nervous system neuron development TAS
 biological_processGO:0050855 regulation of B cell receptor signaling pathway TAS
 biological_processGO:0071425 hematopoietic stem cell proliferation TAS
 biological_processGO:1902036 regulation of hematopoietic stem cell differentiation TAS
 biological_processGO:2000810 regulation of bicellular tight junction assembly TAS
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IMP
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001047 core promoter binding IDA
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA


Pathways (from Reactome)
Pathway description
Pre-NOTCH Transcription and Translation
Organic cation transport
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
RUNX1 regulates estrogen receptor mediated transcription
Regulation of RUNX1 Expression and Activity
RUNX1 regulates expression of components of tight junctions
RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
RUNX1 regulates transcription of genes involved in differentiation of HSCs
RUNX1 regulates transcription of genes involved in differentiation of keratinocytes
RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
RUNX1 regulates transcription of genes involved in BCR signaling
RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
RUNX1 regulates transcription of genes involved in interleukin signaling
RUNX1 regulates transcription of genes involved in WNT signaling
RUNX2 regulates genes involved in differentiation of myeloid cells
RUNX3 regulates p14-ARF
Estrogen-dependent gene expression


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000421 Epistaxis 
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 HP:0000978 Ecchymoses 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001873 Thrombocytopenia 
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 HP:0001894 Thrombocytosis 
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 HP:0001912 Abnormality of basophils 
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 HP:0001945 Fever 
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 HP:0001974 Leukocytosis "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson]
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 HP:0002665 Lymphoma "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators]
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 HP:0002863 Myelodysplasia 
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 HP:0003006 Neuroblastoma "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [HPO:curators]
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 HP:0003010 Prolonged bleeding time 
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 HP:0003540 Abnormal platelet aggregation 
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 HP:0004396 Poor appetite 
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 HP:0004808 Acute myeloid leukemia "A form of leukemia characterized by overproduction of an early myeloid cell." [HPO:curators]
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 HP:0004845 Acute monocytic leukemia 
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 HP:0005547 Myeloproliferative disorder 
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000005339 CREBBP / Q92793 / CREB binding protein  / complex / reaction
 ENSG00000132475 H3F3B / P84243 / H3 histone family member 3B  / complex / reaction
 ENSG00000067955 CBFB / Q13951 / core-binding factor beta subunit  / complex / reaction
 ENSG00000091831 ESR1 / P03372 / estrogen receptor 1  / complex / reaction
 ENSG00000120690 ELF1 / P32519 / E74 like ETS transcription factor 1  / complex / reaction
 ENSG00000173473 Q92922 / SMARCC1 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1  / complex / reaction
 ENSG00000099956 Q12824 / SMARCB1 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1  / complex / reaction
 ENSG00000105810 CDK6 / Q00534 / cyclin dependent kinase 6  / complex / reaction
 ENSG00000139613 Q8TAQ2 / SMARCC2 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2  / complex / reaction
 ENSG00000100393 EP300 / Q09472 / E1A binding protein p300  / complex / reaction
 ENSG00000137693 YAP1 / P46937 / Yes associated protein 1  / complex / reaction
 ENSG00000080503 P51531 / SMARCA2 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2  / complex / reaction
 ENSG00000196092 PAX5 / Q02548 / paired box 5  / complex / reaction
 ENSG00000127616 P51532 / SMARCA4 / SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4  / complex / reaction
 ENSG00000109381 ELF2 / Q15723 / E74 like ETS transcription factor 2  / complex / reaction
 ENSG00000169375 SIN3A / Q96ST3 / SIN3 transcription regulator family member A  / complex / reaction
 ENSG00000101096 NFATC2 / Q13469 / nuclear factor of activated T cells 2  / complex / reaction
 ENSG00000198890 PRMT6 / Q96LA8 / protein arginine methyltransferase 6  / complex / reaction
 ENSG00000049768 FOXP3 / Q9BZS1 / forkhead box P3  / complex / reaction
 ENSG00000126457 PRMT1 / Q99873 / protein arginine methyltransferase 1  / complex / reaction
 ENSG00000140464 PML / P29590 / promyelocytic leukemia  / complex / reaction
 ENSG00000118513 MYB / P10242 / MYB proto-oncogene, transcription factor  / complex
 ENSG00000064393 HIPK2 / Q9H2X6 / homeodomain interacting protein kinase 2  / reaction
 ENSG00000183598 Q71DI3 / HIST2H3D / histone cluster 2 H3 family member d  / complex / reaction
 ENSG00000179295 PTPN11 / Q06124 / protein tyrosine phosphatase, non-receptor type 11  / complex / reaction
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / complex / reaction
 ENSG00000112576 CCND3 / P30281 / cyclin D3  / complex / reaction
 ENSG00000116478 HDAC1 / Q13547 / histone deacetylase 1  / complex / reaction
 ENSG00000118058 KMT2A / Q03164 / lysine methyltransferase 2A  / complex / reaction
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / complex / reaction
 ENSG00000275714 P68431 / HIST1H3A / histone cluster 1 H3 family member a  / complex / reaction






 

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