• Gene id: 861

Gene Summary

• Gene Symbol: RUNX1   Gene   UCSC   Ensembl
• Aliases: AML1, AML1-EVI-1, AMLCR1, CBF2alpha, CBFA2, EVI-1, PEBP2aB, PEBP2alpha
• Gene name: RUNX family transcription factor 1
• Alternate names: runt-related transcription factor 1, AML1-EVI-1 fusion protein, PEA2-alpha B, PEBP2-alpha B, SL3-3 enhancer factor 1 alpha B subunit, SL3/AKV core-binding factor alpha B subunit, acute myeloid leukemia 1 protein, core-binding factor, runt domain, alpha subunit 2,
• Gene location: 21q22.12 (19515260: 19360057)     Exons: 32     NC_000023.11
• Gene summary(Entrez): 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 norm
• OMIM: 151385

SNPs

rs2976084

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.75456899G>A
NC_000003.12   g.75456899G>T
NC_000003.11   g.75506050G>A
NC_000003.11   g.75506050G>T
NG_025593.1   g.34405C>T
NG_025593.1   g.34405C>A
NR_151706.1   n.721G>A
NR_151706.1   n.721G>T|SEQ=[G/A/T]|GENE=LINC02018

Protein Summary

• Protein general information: Q01196  
  • Name: Runt related transcription factor 1 (Acute myeloid leukemia 1 protein) (Core binding factor subunit alpha 2) (CBF alpha 2) (Oncogene AML 1) (Polyomavirus enhancer binding protein 2 alpha B subunit) (PEA2 alpha B) (PEBP2 alpha B) (SL3 3 enhancer factor 1 a
  • Length: 453  
  • Mass: 48737
  • Tissue specificity: Expressed in all tissues examined except brain and heart. Highest levels in thymus, bone marrow and peripheral blood.
• Sequence:

  MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVL
  PTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTI
  TVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRAS
  LNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDL
  TAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPS
  YHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVW
  RPY

• Structural information:
  • Protein Domains: (50..17-)
    (/note="Runt-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00399"-)
  • Interpro: IPR000040  IPR008967  IPR012346  IPR013524  IPR027384   IPR013711  IPR016554  
  • Prosite: PS51062
  • PDB: 1CMO 1CO1 1E50 1H9D 1LJM
  • PDBsum: 1CMO 1CO1 1E50 1H9D 1LJM
  • DIP: 36773
  • STRING: ENSP00000300305
• Other Databases: GeneCards:  RUNX1  Malacards:  RUNX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001503	ossification	IBA	biological process
GO:0045595	regulation of cell differentiation	IBA	biological process
GO:0030182	neuron differentiation	IBA	biological process
GO:0030097	hemopoiesis	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0002062	chondrocyte differentiation	IBA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0032743	positive regulation of interleukin-2 production	IMP	biological process
GO:0043378	positive regulation of CD8-positive, alpha-beta T cell differentiation	ISS	biological process
GO:0043371	negative regulation of CD4-positive, alpha-beta T cell differentiation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0016513	core-binding factor complex	TAS	cellular component
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0010629	negative regulation of gene expression	TAS	biological process
GO:0030111	regulation of Wnt signaling pathway	TAS	biological process
GO:0045637	regulation of myeloid cell differentiation	TAS	biological process
GO:2000810	regulation of bicellular tight junction assembly	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0033146	regulation of intracellular estrogen receptor signaling pathway	TAS	biological process
GO:0045589	regulation of regulatory T cell differentiation	TAS	biological process
GO:0045616	regulation of keratinocyte differentiation	TAS	biological process
GO:0045652	regulation of megakaryocyte differentiation	TAS	biological process
GO:0050855	regulation of B cell receptor signaling pathway	TAS	biological process
GO:1902036	regulation of hematopoietic stem cell differentiation	TAS	biological process
GO:0001959	regulation of cytokine-mediated signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048935	peripheral nervous system neuron development	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0030097	hemopoiesis	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0071425	hematopoietic stem cell proliferation	TAS	biological process
GO:0045766	positive regulation of angiogenesis	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030854	positive regulation of granulocyte differentiation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04530	Tight junction
hsa05202	Transcriptional misregulation in cancer
hsa04659	Th17 cell differentiation
hsa05220	Chronic myeloid leukemia
hsa05221	Acute myeloid leukemia

Diseases

Associated diseases	References
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Chronic myelomonocytic leukemia	KEGG:H02411
Myelodysplastic syndrome	KEGG:H01481
Atypical chronic myeloid leukemia	KEGG:H02412
B-cell acute lymphoblastic leukemia	KEGG:H00001
Thrombocytopenia	KEGG:H00978
Acute myeloid leukemia	KEGG:H00003
Chronic myeloid leukemia	KEGG:H00004
Myelodysplastic/myeloproliferative neoplasms	KEGG:H02410
Chronic myelomonocytic leukemia	KEGG:H02411
Myelodysplastic syndrome	KEGG:H01481
Atypical chronic myeloid leukemia	KEGG:H02412
B-cell acute lymphoblastic leukemia	KEGG:H00001
Thrombocytopenia	KEGG:H00978
Acute myeloid leukemia	KEGG:H00003
Chronic myeloid leukemia	KEGG:H00004
Cardiomyopathy	PMID:12937148
Myelodysplastic syndrome	PMID:17910630
Lymphocytic leukemia	PMID:9539781
Alzheimer's disease	PMID:20946940
Asthma	PMID:21803869
Acute T cell leukemia	PMID:21828118
Rheumatoid arthritis	PMID:20018071
acute myeloid leukemia	PMID:11023523
acute myeloid leukemia	PMID:12760263
acute myeloid leukemia	PMID:19808697
multiple myeloma	PMID:12560229
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 21412036
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray