Q01196

PTMD Annotation Information

※ Protein Information

Tag	Content
UniProt Accession	RUNX1_HUMAN; Q01196;
Entrez ID	861
GenBank Protein ID	NM_001001890.2; NM_001122607.1; NM_001754.4; XM_005261068.3; XM_011529766.2;
GenBank Nucleotide ID	NP_001001890.1; NP_001116079.1; NP_001745.2; XP_005261125.1; XP_011528068.1;
Protein 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
Gene Name	RUNX1; AML1; CBFA2
Organism	Homo sapiens
NCBI Taxa ID	9606
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. Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down-regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells (PubMed:17377532). Positively regulates the expression of RORC in T-helper 17 cells (By similarity). 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. Controls the anergy and suppressive function of regulatory T-cells (Treg) by associating with FOXP3. Activates the expression of IL2 and IFNG and down-regulates the expression of TNFRSF18, IL2RA and CTLA4, in conventional T-cells (PubMed:17377532). Positively regulates the expression of RORC in T-helper 17 cells (By similarity).
Sequence (Fasta)	MRIPVDASTS RRFTPPSTAL SPGKMSEALP LGAPDAGAAL AGKLRSGDRS MVEVLADHPG 60 ELVRTDSPNF LCSVLPTHWR CNKTLPIAFK VVALGDVPDG TLVTVMAGND ENYSAELRNA 120 TAAMKNQVAR FNDLRFVGRS GRGKSFTLTI TVFTNPPQVA TYHRAIKITV DGPREPRRHR 180 QKLDDQTKPG SLSFSERLSE LEQLRRTAMR VSPHHPAPTP NPRASLNHST AFNPQPQSQM 240 QDTRQIQPSP PWSYDQSYQY LGSIASPSVH PATPISPGRA SGMTTLSAEL SSRLSTAPDL 300 TAFSDPRQFP ALPSISDPRM HYPGAFTYSP TPVTSGIGIG MSAMGSATRY HTYLPPPYPG 360 SSQAQGGPFQ ASSPSYHLYY GASAGSYQFS MVGGERSPPR ILPPCTNAST GSALLNPSLP 420 NQSDVVEAEG SHSNSPTNMA PSARLEEAVW RPY 454 Fasta Sequence >Q01196\|RUNX1; AML1; CBFA2\|Homo sapiens (Human) MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	Arginine Methylation	Myeloid		P	R223	24332853
1	[Reference]: PRMT4 blocks myeloid differentiation by assembling a methyl-RUNX1-dependent repressor complex

※ Disease Cross-ref Annotation

Database	Annotation
Cancer Gene Census	AML, pre B-ALL, T-ALL
CTD (Curated) (count: 9) (view all)	MESH:D001172 ; Arthritis, Rheumatoid MESH:D005909 ; Glioblastoma MESH:D015470 ; Leukemia, Myeloid, Acute MESH:D054429 ; Leukemia, Myelomonocytic, Juvenile MESH:D009190 ; Myelodysplastic Syndromes MESH:C563324 ; Platelet Disorder, Familial, with Associated Myeloid Malignancy MESH:D015452 ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma MESH:D054198 ; Precursor Cell Lymphoblastic Leukemia-Lymphoma MESH:D011471 ; Prostatic Neoplasms
HGMD (count: 12) (view all)	CD052120; Platelet disorder, familial; Small deletions CD084212; Platelet disorder, familial & myeloid leukaemia; Small deletions CG084546; Mental retardation, short stature & thrombocytopaenia; Gross deletions CG995002; Platelet disorder, familial; Gross deletions CM021675; Thrombocytopaenia; Missense/nonsense CM992139; Platelet disorder, familial; Missense/nonsense CM013280; Platelet disorder, familial; Missense/nonsense CM992141; Platelet disorder, familial; Missense/nonsense CM992140; Platelet disorder, familial; Missense/nonsense CM992142; Platelet disorder, familial; Missense/nonsense CS992234; Platelet disorder, familial; Splicing CS033510; Rheumatoid arthritis, susceptibility, association; Splicing
GWASdb (count: 35) (view all)	rs2253319; Nicotine smoking; nicotine dependence rs9976946; Multiple complex diseases; Null rs9976946; Preeclampsia; pre-eclampsia rs2834649; Nicotine smoking; nicotine dependence rs2834650; Multiple complex diseases; Null rs2186290; Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months); rheumatoid arthritis rs2186290; Methotrexate clearance (acute lymphoblastic leukemia); acute lymphocytic leukemia\|acute leukemia rs2268284; Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months); rheumatoid arthritis rs2268284; Methotrexate clearance (acute lymphoblastic leukemia); acute lymphocytic leukemia\|acute leukemia rs2409535; Anti-TNF treatment response in rheumatoid arthritis (by DAS-28 score change at 3 months); rheumatoid arthritis rs2409535; Methotrexate clearance (acute lymphoblastic leukemia); acute lymphocytic leukemia\|acute leukemia rs968625; Major depressive disorder; major depressive disorder rs2834655; Immune response to smallpox vaccine (IL-6); smallpox rs13053063; Urinary metabolites; kidney disease rs2834664; Cognitive impairment induced by topiramate; cognitive disorder rs9985174; Atrial fibrillation; familial atrial fibrillation rs2834669; Coronary artery calcification; coronary artery disease rs2834670; Blood pressure, CVD RF and other traits (body mass index (BMI), waist:hip ratio, renin activity in plasma, aldosterone concentration in plasma, BNP levels in plasma, alcohol consumption); hypertension rs9984470; Iron levels; iron metabolism disease rs2834672; Insulin resistance; type 2 diabetes mellitus rs2834680; Stroke; cerebrovascular disease rs8126567; Iron levels; iron metabolism disease rs11701453; Dilated cardiomyopathy; dilated cardiomyopathy rs11701555; Cholesterol; arteriosclerosis\|coronary artery disease\|lipid metabolism disorder rs11701555; Salmonella-induced pyroptosis; Null rs2014300; Esophageal cancer; esophageal cancer rs2242876; Cholesterol, total; coronary artery disease\|lipid metabolism disorder\|arteriosclerosis rs7282535; Nicotine smoking; nicotine dependence rs2242888; Type 2 diabetes; type 2 diabetes mellitus rs882776; Type 2 diabetes; type 2 diabetes mellitus rs1474479; Type 2 diabetes; type 2 diabetes mellitus rs9980210; Type 2 diabetes; type 2 diabetes mellitus rs2294163; Amyotrophic lateral sclerosis (sporadic); amyotrophic lateral sclerosis rs9983044; Phospholipid levels (plasma); type 2 diabetes mellitus\|coronary artery disease rs2071029; Urinary metabolites; kidney disease

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 51) (view all)	14 ASTSRRFTPPSTALS dbPAF 145 GRSGRGKSFTLTITV dbPAF 147 SGRGKSFTLTITVFT dbPAF 149 RGKSFTLTITVFTNP dbPAF 151 KSFTLTITVFTNPPQ dbPAF 17 SRRFTPPSTALSPGK dbPAF 18 RRFTPPSTALSPGKM dbPAF 191 DDQTKPGSLSFSERL dbPAF 193 QTKPGSLSFSERLSE dbPAF 199 LSFSERLSELEQLRR dbPAF 207 ELEQLRRTAMRVSPH dbPAF 21 TPPSTALSPGKMSEA dbPAF 212 RRTAMRVSPHHPAPT dbPAF 219 SPHHPAPTPNPRASL dbPAF 225 PTPNPRASLNHSTAF dbPAF 229 PRASLNHSTAFNPQP dbPAF 230 RASLNHSTAFNPQPQ dbPAF 238 AFNPQPQSQMQDTRQ dbPAF 249 DTRQIQPSPPWSYDQ dbPAF 253 IQPSPPWSYDQSYQY dbPAF 254 QPSPPWSYDQSYQYL dbPAF 257 PPWSYDQSYQYLGSI dbPAF 258 PWSYDQSYQYLGSIA dbPAF 26 ALSPGKMSEALPLGA dbPAF 260 SYDQSYQYLGSIASP dbPAF 263 QSYQYLGSIASPSVH dbPAF 266 QYLGSIASPSVHPAT dbPAF 268 LGSIASPSVHPATPI dbPAF 273 SPSVHPATPISPGRA dbPAF 276 VHPATPISPGRASGM dbPAF 281 PISPGRASGMTTLSA dbPAF 284 PGRASGMTTLSAELS dbPAF 285 GRASGMTTLSAELSS dbPAF 291 TTLSAELSSRLSTAP dbPAF 292 TLSAELSSRLSTAPD dbPAF 295 AELSSRLSTAPDLTA dbPAF 296 ELSSRLSTAPDLTAF dbPAF 327 MHYPGAFTYSPTPVT dbPAF 329 YPGAFTYSPTPVTSG dbPAF 331 GAFTYSPTPVTSGIG dbPAF 346 IGMSAMGSATRYHTY dbPAF 390 SAGSYQFSMVGGERS dbPAF 397 SMVGGERSPPRILPP dbPAF 423 NPSLPNQSDVVEAEG dbPAF 431 DVVEAEGSHSNSPTN dbPAF 433 VEAEGSHSNSPTNMA dbPAF 435 AEGSHSNSPTNMAPS dbPAF 437 GSHSNSPTNMAPSAR dbPAF 453 EEAVWRPY******* dbPAF 50 KLRSGDRSMVEVLAD dbPAF 8 MRIPVDASTSRRFTP dbPAF
Acetylation (count: 6)	125 RNATAAMKNQVARFN PLMD 144 VGRSGRGKSFTLTIT PLMD 182 EPRRHRQKLDDQTKP PLMD 188 QKLDDQTKPGSLSFS PLMD 24 STALSPGKMSEALPL PLMD 43 AGAALAGKLRSGDRS PLMD
Ubiquitination (count: 7) (view all)	125 RNATAAMKNQVARFN PLMD 167 ATYHRAIKITVDGPR PLMD 182 EPRRHRQKLDDQTKP PLMD 188 QKLDDQTKPGSLSFS PLMD 24 STALSPGKMSEALPL PLMD 43 AGAALAGKLRSGDRS PLMD 83 PTHWRCNKTLPIAFK PLMD

※ Protein-Protein Interaction

Network

Interaction

A

B

Source

H0YBT0	Q01196	IntAct
O43463	Q01196	HPRD
P01871	Q01196	IntAct
P02768	Q01196	BioGRID
P05412	Q01196	HPRD
P07998	Q01196	BioGRID
P08047	Q01196	MINT
P10275	Q01196	HPRD
P17542	Q01196	DIP; MINT
P46937	Q01196	HPRD
P49715	Q01196	MINT;HPRD
Q00534	Q01196	MINT
Q01196	Q09472	MINT
Q01196	Q13951	IntAct; MINT
Q01196	Q15723	IntAct
Q01196	Q4LE28	MINT
Q01196	Q99607	IntAct
Q01196	Q9H2X6	MINT
Q01196	Q9UPN9	IntAct