CPLM-010836

Genbank Nucleotide ID

Runt-related transcription factor 1

Protein Synonyms/Alias

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 alpha B subunit; SL3/AKV core-binding factor alpha B subunit

Homo sapiens (Human)

Position	Peptide	Type	References
24	STALSPGKMSEALPL	acetylation	[1, 2, 3]
43	AGAALAGKLRSGDRS	acetylation	[1, 2, 3]
43	AGAALAGKLRSGDRS	ubiquitination	[4]
188	QKLDDQTKPGSLSFS	ubiquitination	[4]

[1] AML1 is functionally regulated through p300-mediated acetylation on specific lysine residues.
Yamaguchi Y, Kurokawa M, Imai Y, Izutsu K, Asai T, Ichikawa M, Yamamoto G, Nitta E, Yamagata T, Sasaki K, Mitani K, Ogawa S, Chiba S, Hirai H.
J Biol Chem. 2004 Apr 9;279(15):15630-8. [PMID: 14752096]
[2] Lysine acetylation targets protein complexes and co-regulates major cellular functions.
Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M.
Science. 2009 Aug 14;325(5942):834-40. [PMID: 19608861]
[3] The leukemogenicity of AML1-ETO is dependent on site-specific lysine acetylation.
Wang L, Gural A, Sun XJ, Zhao X, Perna F, Huang G, Hatlen MA, Vu L, Liu F, Xu H, Asai T, Xu H, Deblasio T, Menendez S, Voza F, Jiang Y, Cole PA, Zhang J, Melnick A, Roeder RG, Nimer SD.
Science. 2011 Aug 5;333(6043):765-9. [PMID: 21764752]
[4] A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles.
Wagner SA, Beli P, Weinert BT, Nielsen ML, Cox J, Mann M, Choudhary C.
Mol Cell Proteomics. 2011 Oct;10(10):M111.013284. [PMID: 21890473]

Functional Description

CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL-3 and GM-CSF promoters. The alpha subunit binds DNA and appears to have a role in the development of normal hematopoiesis. Isoform AML-1L interferes with the transactivation activity of RUNX1. Acts synergistically with ELF4 to transactivate the IL-3 promoter and with ELF2 to transactivate the mouse BLK promoter. Inhibits KAT6B- dependent transcriptional activation.

DOMAIN 50 178 Runt.
REGION 80 84 Interaction with DNA.
REGION 135 143 Interaction with DNA.
REGION 168 177 Interaction with DNA.
REGION 291 371 Interaction with KAT6A.
REGION 307 400 Interaction with KAT6B (By similarity).
BINDING 112 112 Chloride 1.
BINDING 116 116 Chloride 1; via amide nitrogen.
BINDING 139 139 Chloride 2.
BINDING 170 170 Chloride 2; via amide nitrogen.
MOD_RES 14 14 Phosphothreonine.
MOD_RES 21 21 Phosphoserine.
MOD_RES 24 24 N6-acetyllysine.
MOD_RES 43 43 N6-acetyllysine.
MOD_RES 249 249 Phosphoserine; by HIPK2.
MOD_RES 266 266 Phosphoserine.
MOD_RES 268 268 Phosphoserine.
MOD_RES 273 273 Phosphothreonine; by HIPK2.
MOD_RES 276 276 Phosphoserine; by HIPK2.

3D-structure; Acetylation; Alternative splicing; Chloride; Chromosomal rearrangement; Complete proteome; Disease mutation; DNA-binding; Methylation; Nucleus; Phosphoprotein; Polymorphism; Proto-oncogene; Reference proteome; Transcription; Transcription regulation.

UniProt (SWISSPROT/TrEMBL); GenBank; EMBL

GO:0005604; C:basement membrane; IEA:Compara.
GO:0005634; C:nucleus; IDA:UniProtKB.
GO:0005524; F:ATP binding; NAS:UniProtKB.
GO:0005509; F:calcium ion binding; IDA:UniProtKB.
GO:0003677; F:DNA binding; IDA:UniProtKB.
GO:0046982; F:protein heterodimerization activity; IDA:UniProtKB.
GO:0042803; F:protein homodimerization activity; IDA:UniProtKB.
GO:0000975; F:regulatory region DNA binding; IDA:UniProtKB.
GO:0003700; F:sequence-specific DNA binding transcription factor activity; IDA:UniProtKB.
GO:0008134; F:transcription factor binding; IDA:UniProtKB.
GO:0048266; P:behavioral response to pain; IEA:Compara.
GO:0007417; P:central nervous system development; IEA:Compara.
GO:0060216; P:definitive hemopoiesis; IEA:Compara.
GO:0035162; P:embryonic hemopoiesis; IEA:Compara.
GO:0031069; P:hair follicle morphogenesis; IEA:Compara.
GO:0071425; P:hematopoietic stem cell proliferation; TAS:UniProtKB.
GO:0001701; P:in utero embryonic development; IEA:Compara.
GO:0001889; P:liver development; IEA:Compara.
GO:0030099; P:myeloid cell differentiation; IDA:UniProtKB.
GO:0002318; P:myeloid progenitor cell differentiation; IEA:Compara.
GO:0030853; P:negative regulation of granulocyte differentiation; IMP:UniProtKB.
GO:0048935; P:peripheral nervous system neuron development; TAS:BHF-UCL.
GO:0045766; P:positive regulation of angiogenesis; ISS:UniProtKB.
GO:0030854; P:positive regulation of granulocyte differentiation; IMP:UniProtKB.
GO:2000872; P:positive regulation of progesterone secretion; IEA:Compara.
GO:0045944; P:positive regulation of transcription from RNA polymerase II promoter; IDA:UniProtKB.
GO:0045893; P:positive regulation of transcription, DNA-dependent; IDA:UniProtKB.
GO:0071336; P:regulation of hair follicle cell proliferation; IEA:Compara.
GO:0009966; P:regulation of signal transduction; IEA:Compara.
GO:0001501; P:skeletal system development; IEA:Compara.
GO:0006351; P:transcription, DNA-dependent; IEA:UniProtKB-KW.

IPR000040; AML1_Runt.
IPR008967; p53-like_TF_DNA-bd.
IPR012346; p53/RUNT-type_TF_DNA-bd.
IPR013524; Runt_dom.
IPR027384; Runx_central_dom.
IPR013711; RunxI_C_dom.
IPR016554; TF_Runt-rel_RUNX.

PF00853; Runt
PF08504; RunxI

PR00967; ONCOGENEAML1.