UniProtKB - Q01196 (RUNX1_HUMAN)
Runt-related transcription factor 1
RUNX1
Functioni
Caution
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 112 | Chloride 1 | 1 | |
Binding sitei | 116 | Chloride 1; via amide nitrogen | 1 | |
Binding sitei | 139 | Chloride 2 | 1 | |
Binding sitei | 170 | Chloride 2; via amide nitrogen | 1 |
GO - Molecular functioni
- ATP binding Source: InterPro
- calcium ion binding Source: UniProtKB
- DNA binding Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- protein heterodimerization activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: UniProtKB
- RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: NTNU_SB
- transcription factor binding Source: UniProtKB
- transcription regulatory region sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- chondrocyte differentiation Source: GO_Central
- hematopoietic stem cell proliferation Source: UniProtKB
- hemopoiesis Source: UniProtKB
- myeloid cell differentiation Source: UniProtKB
- negative regulation of CD4-positive, alpha-beta T cell differentiation Source: UniProtKB
- negative regulation of gene expression Source: Reactome
- negative regulation of granulocyte differentiation Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- neuron differentiation Source: GO_Central
- ossification Source: GO_Central
- peripheral nervous system neuron development Source: BHF-UCL
- positive regulation of angiogenesis Source: UniProtKB
- positive regulation of CD8-positive, alpha-beta T cell differentiation Source: UniProtKB
- positive regulation of granulocyte differentiation Source: UniProtKB
- positive regulation of interleukin-2 production Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of B cell receptor signaling pathway Source: Reactome
- regulation of bicellular tight junction assembly Source: Reactome
- regulation of cell differentiation Source: GO_Central
- regulation of cytokine-mediated signaling pathway Source: Reactome
- regulation of hematopoietic stem cell differentiation Source: Reactome
- regulation of intracellular estrogen receptor signaling pathway Source: Reactome
- regulation of keratinocyte differentiation Source: Reactome
- regulation of megakaryocyte differentiation Source: Reactome
- regulation of myeloid cell differentiation Source: Reactome
- regulation of regulatory T cell differentiation Source: Reactome
- regulation of transcription by RNA polymerase II Source: GO_Central
- regulation of Wnt signaling pathway Source: Reactome
Keywordsi
Molecular function | Activator, DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Ligand | Chloride |
Enzyme and pathway databases
PathwayCommonsi | Q01196 |
Reactomei | R-HSA-1912408, Pre-NOTCH Transcription and Translation R-HSA-549127, Organic cation transport R-HSA-8877330, RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) R-HSA-8931987, RUNX1 regulates estrogen receptor mediated transcription R-HSA-8934593, Regulation of RUNX1 Expression and Activity R-HSA-8935964, RUNX1 regulates expression of components of tight junctions R-HSA-8936459, RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function R-HSA-8939236, RUNX1 regulates transcription of genes involved in differentiation of HSCs R-HSA-8939242, RUNX1 regulates transcription of genes involved in differentiation of keratinocytes R-HSA-8939243, RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known R-HSA-8939245, RUNX1 regulates transcription of genes involved in BCR signaling R-HSA-8939246, RUNX1 regulates transcription of genes involved in differentiation of myeloid cells R-HSA-8939247, RUNX1 regulates transcription of genes involved in interleukin signaling R-HSA-8939256, RUNX1 regulates transcription of genes involved in WNT signaling R-HSA-8941333, RUNX2 regulates genes involved in differentiation of myeloid cells R-HSA-8951936, RUNX3 regulates p14-ARF R-HSA-9018519, Estrogen-dependent gene expression R-HSA-9616222, Transcriptional regulation of granulopoiesis |
SignaLinki | Q01196 |
SIGNORi | Q01196 |
Names & Taxonomyi
Protein namesi | Recommended name: Runt-related transcription factor 1Alternative name(s): Acute myeloid leukemia 1 protein Core-binding factor subunit alpha-2 Short name: CBF-alpha-2 Oncogene AML-1 Polyomavirus enhancer-binding protein 2 alpha B subunit Short name: PEA2-alpha B Short name: PEBP2-alpha B SL3-3 enhancer factor 1 alpha B subunit SL3/AKV core-binding factor alpha B subunit |
Gene namesi | Name:RUNX1 Synonyms:AML1, CBFA2 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:10471, RUNX1 |
MIMi | 151385, gene |
neXtProti | NX_Q01196 |
VEuPathDBi | HostDB:ENSG00000159216.18 |
Subcellular locationi
Nucleus
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Other locations
- core-binding factor complex Source: UniProtKB
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Familial platelet disorder with associated myeloid malignancy (FPDMM)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012128 | 139 | R → Q in FPDMM. 1 PublicationCorresponds to variant dbSNP:rs1060499616Ensembl. | 1 | |
Natural variantiVAR_012129 | 174 | R → Q in FPDMM; impaired phosphorylation. 2 PublicationsCorresponds to variant dbSNP:rs74315450Ensembl. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 67 | S → R: Loss of heterodimerization and reduced EP300 phosphorylation induction. 1 Publication | 1 | |
Mutagenesisi | 80 | R → A: Strongly reduces DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 83 | K → A: Strongly reduces DNA-binding. 2 Publications | 1 | |
Mutagenesisi | 83 | K → E: Strongly reduces DNA-binding, impaired phosphorylation and reduced EP300 phosphorylation induction. 2 Publications | 1 | |
Mutagenesisi | 84 | T → A: No effect on DNA binding. 1 Publication | 1 | |
Mutagenesisi | 106 | M → V: Disrupts interaction of AML1-MTG8/ETO with CBFB, no effect on AML1-MTG8/ETO-mediated transformation activity. 1 Publication | 1 | |
Mutagenesisi | 107 | A → T: Loss of heterodimerization. Disrupts interactionof AML1-MTG8/ETO with CBFB, no effect on AML1-MTG8/ETO-mediated transformation activity. 2 Publications | 1 | |
Mutagenesisi | 108 | G → R: Loss of heterodimerization and impaired phosphorylation. 2 Publications | 1 | |
Mutagenesisi | 135 | R → A: Strongly reduces DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 139 | R → A: Strongly reduces DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 140 | S → G: Disrupts AML1-MTG8/ETO DNA-binding, decreases AML1-MTG8/ETO transforming activity. 1 Publication | 1 | |
Mutagenesisi | 142 | R → A: Strongly reduces DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 145 – 453 | Missing : No DNA-binding. Add BLAST | 309 | |
Mutagenesisi | 167 | K → A: Reduces DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 169 | T → A: Strongly reduces DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 171 | D → A: Strongly reduces DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 174 | R → A: Strongly reduces DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 177 | R → A: Strongly reduces DNA-binding. 1 Publication | 1 | |
Mutagenesisi | 249 | S → A: Reduced phosphorylation. 1 Publication | 1 | |
Mutagenesisi | 273 | T → A: Reduced phosphorylation; when associated with A-276. 1 Publication | 1 | |
Mutagenesisi | 276 | S → A: Reduced phosphorylation; when associated with A-273. 1 Publication | 1 |
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 177 – 178 | Breakpoint for translocation to form AML1-EMV-1 (or AML1-EAP) in CML and T-MDS, to form AML1-MTG8 (ETO) in AML-M2, to form AML1-CBFA2T3 in therapy-related myeloid malignancies, to form AML1-MECOM in CML and to form type I MACROD1-RUNX1 fusion protein | 2 | |
Sitei | 241 – 242 | Breakpoint for translocation to form AML1-EAP in T-MDS and CML, to form type II MACROD1-RUNX1 fusion protein and to form RUNX1-CBFA2T2 in acute myeloid leukemia1 Publication | 2 |
Keywords - Diseasei
Disease variant, Proto-oncogeneOrganism-specific databases
DisGeNETi | 861 |
MalaCardsi | RUNX1 |
MIMi | 601399, phenotype |
OpenTargetsi | ENSG00000159216 |
Orphaneti | 102724, Acute myeloid leukemia with t(8;21)(q22;q22) translocation 98850, Aggressive systemic mastocytosis 521, Chronic myeloid leukemia 71290, Familial platelet disorder with associated myeloid malignancy 248340, Isolated delta-storage pool disease 99860, Precursor B-cell acute lymphoblastic leukemia |
PharmGKBi | PA34884 |
Miscellaneous databases
Pharosi | Q01196, Tbio |
Genetic variation databases
BioMutai | RUNX1 |
DMDMi | 215274205 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000174655 | 1 – 453 | Runt-related transcription factor 1Add BLAST | 453 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 14 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 21 | PhosphoserineCombined sources | 1 | |
Modified residuei | 24 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 43 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 193 | PhosphoserineCombined sources | 1 | |
Modified residuei | 212 | PhosphoserineCombined sources | 1 | |
Modified residuei | 249 | Phosphoserine; by HIPK2Combined sources1 Publication | 1 | |
Modified residuei | 266 | PhosphoserineCombined sources | 1 | |
Modified residuei | 268 | PhosphoserineCombined sources | 1 | |
Modified residuei | 273 | Phosphothreonine; by HIPK21 Publication | 1 | |
Modified residuei | 276 | Phosphoserine; by HIPK2Combined sources1 Publication | 1 | |
Modified residuei | 296 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 435 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Keywords - PTMi
Acetylation, Methylation, PhosphoproteinProteomic databases
EPDi | Q01196 |
jPOSTi | Q01196 |
MassIVEi | Q01196 |
MaxQBi | Q01196 |
PaxDbi | Q01196 |
PeptideAtlasi | Q01196 |
PRIDEi | Q01196 |
ProteomicsDBi | 57927 [Q01196-1] 57928 [Q01196-10] 57929 [Q01196-11] 57930 [Q01196-2] 57931 [Q01196-3] 57932 [Q01196-4] 57933 [Q01196-5] 57934 [Q01196-6] 57935 [Q01196-7] 57936 [Q01196-8] 57937 [Q01196-9] |
PTM databases
GlyGeni | Q01196, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q01196 |
MetOSitei | Q01196 |
PhosphoSitePlusi | Q01196 |
Expressioni
Tissue specificityi
Inductioni
Gene expression databases
Bgeei | ENSG00000159216, Expressed in epithelium of mammary gland and 207 other tissues |
ExpressionAtlasi | Q01196, baseline and differential |
Genevisiblei | Q01196, HS |
Organism-specific databases
HPAi | ENSG00000159216, Tissue enhanced (breast, lymphoid tissue) |
Interactioni
Subunit structurei
Heterodimer with CBFB. RUNX1 binds DNA as a monomer and through the Runt domain. DNA-binding is increased by heterodimerization. Isoform AML-1L can neither bind DNA nor heterodimerize.
Interacts with TLE1 and ALYREF/THOC4 (PubMed:9119228, PubMed:9751710).
Interacts with ELF1, ELF2 and SPI1 (PubMed:10207087).
Interacts via its Runt domain with the ELF4 N-terminal region (PubMed:10207087). Interaction with ELF2 isoform 2 (NERF-1a) may act to repress RUNX1-mediated transactivation (PubMed:14970218).
Interacts with KAT6A and KAT6B (PubMed:11742995, PubMed:11965546).
Interacts with SUV39H1, leading to abrogation of transactivating and DNA-binding properties of RUNX1 (PubMed:12917624, PubMed:16652147).
Interacts with YAP1 (PubMed:18280240).
Interacts with HIPK2 (By similarity). Interaction with CDK6 prevents myeloid differentiation, reducing its transcription transactivation activity.
Found in a complex with PRMT5, RUNX1 and CBFB.
Interacts with FOXP3 (PubMed:17377532).
Interacts with TBX21 (By similarity).
Interacts with DPF2 (PubMed:28533407).
By similarity16 PublicationsBinary interactionsi
Hide detailsQ01196
Isoform AML-1B [Q01196-1]
Isoform AML-1A [Q01196-2]
With | #Exp. | IntAct |
---|---|---|
TLE1 [Q04724] | 3 | EBI-925944,EBI-711424 |
Isoform AML-1G [Q01196-8]
GO - Molecular functioni
- protein heterodimerization activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- transcription factor binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 107309, 234 interactors |
CORUMi | Q01196 |
DIPi | DIP-36773N |
ELMi | Q01196 |
IntActi | Q01196, 39 interactors |
MINTi | Q01196 |
STRINGi | 9606.ENSP00000300305 |
Chemistry databases
BindingDBi | Q01196 |
Miscellaneous databases
RNActi | Q01196, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q01196 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q01196 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 50 – 178 | RuntPROSITE-ProRule annotationAdd BLAST | 129 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 80 – 84 | Interaction with DNA | 5 | |
Regioni | 135 – 143 | Interaction with DNA | 9 | |
Regioni | 168 – 177 | Interaction with DNA | 10 | |
Regioni | 291 – 371 | Interaction with KAT6A1 PublicationAdd BLAST | 81 | |
Regioni | 307 – 400 | Interaction with KAT6BBy similarityAdd BLAST | 94 | |
Regioni | 362 – 402 | Interaction with FOXP31 PublicationAdd BLAST | 41 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 187 – 453 | Pro/Ser/Thr-richAdd BLAST | 267 |
Domaini
Phylogenomic databases
eggNOGi | KOG3982, Eukaryota |
GeneTreei | ENSGT00940000159255 |
HOGENOMi | CLU_032910_1_0_1 |
InParanoidi | Q01196 |
OMAi | PRVNHST |
OrthoDBi | 562214at2759 |
PhylomeDBi | Q01196 |
TreeFami | TF321496 |
Family and domain databases
Gene3Di | 2.60.40.720, 1 hit 4.10.770.10, 1 hit |
InterProi | View protein in InterPro IPR000040, AML1_Runt IPR008967, p53-like_TF_DNA-bd IPR012346, p53/RUNT-type_TF_DNA-bd_sf IPR013524, Runt_dom IPR027384, Runx_central_dom_sf IPR013711, RunxI_C_dom IPR016554, TF_Runt-rel_RUNX |
PANTHERi | PTHR11950, PTHR11950, 1 hit |
Pfami | View protein in Pfam PF00853, Runt, 1 hit PF08504, RunxI, 1 hit |
PIRSFi | PIRSF009374, TF_Runt-rel_RUNX, 1 hit |
PRINTSi | PR00967, ONCOGENEAML1 |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS51062, RUNT, 1 hit |
s (11+)i Sequence
Sequence statusi: Complete.
This entry describes 11 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 11 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MRIPVDASTS RRFTPPSTAL SPGKMSEALP LGAPDAGAAL AGKLRSGDRS
60 70 80 90 100
MVEVLADHPG ELVRTDSPNF LCSVLPTHWR CNKTLPIAFK VVALGDVPDG
110 120 130 140 150
TLVTVMAGND ENYSAELRNA TAAMKNQVAR FNDLRFVGRS GRGKSFTLTI
160 170 180 190 200
TVFTNPPQVA TYHRAIKITV DGPREPRRHR QKLDDQTKPG SLSFSERLSE
210 220 230 240 250
LEQLRRTAMR VSPHHPAPTP NPRASLNHST AFNPQPQSQM QDTRQIQPSP
260 270 280 290 300
PWSYDQSYQY LGSIASPSVH PATPISPGRA SGMTTLSAEL SSRLSTAPDL
310 320 330 340 350
TAFSDPRQFP ALPSISDPRM HYPGAFTYSP TPVTSGIGIG MSAMGSATRY
360 370 380 390 400
HTYLPPPYPG SSQAQGGPFQ ASSPSYHLYY GASAGSYQFS MVGGERSPPR
410 420 430 440 450
ILPPCTNAST GSALLNPSLP NQSDVVEAEG SHSNSPTNMA PSARLEEAVW
RPY
The sequence of this isoform differs from the canonical sequence as follows:
440-453: APSARLEEAVWRPY → GGASCSRQARRDPGPWARTPSWGRGRPTDRISL
The sequence of this isoform differs from the canonical sequence as follows:
242-250: DTRQIQPSP → EEDTAPWRC
251-453: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
258-453: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
178-224: RHRQKLDDQT...HPAPTPNPRA → SKCIHLGLVH...GWQAPVKPKS
225-453: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
178-188: RHRQKLDDQTK → NSLTWPRYPHI
189-453: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
137-242: VGRSGRGKSF...NPQPQSQMQD → VDGPREPRRH...SPSVHPATPI
243-453: Missing.
The sequence of this isoform differs from the canonical sequence as follows:
1-5: MRIPV → MASDSIFESFPSYPQCFMRECILGMNPSRDVH
The sequence of this isoform differs from the canonical sequence as follows:
1-5: MRIPV → MNPSRDVH
The sequence of this isoform differs from the canonical sequence as follows:
1-5: MRIPV → MPAAPRGPAQGEAAARTRSR
The sequence of this isoform differs from the canonical sequence as follows:
1-105: Missing.
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH9KVB1 | H9KVB1_HUMAN | Runt-related transcription factor | RUNX1 | 389 | Annotation score: | ||
A8MZI9 | A8MZI9_HUMAN | Runt-related transcription factor 1 | RUNX1 | 256 | Annotation score: | ||
C9JWM1 | C9JWM1_HUMAN | Runt-related transcription factor 1 | RUNX1 | 140 | Annotation score: | ||
V9GYT5 | V9GYT5_HUMAN | Runt-related transcription factor 1 | RUNX1 | 49 | Annotation score: | ||
V9GYT3 | V9GYT3_HUMAN | Runt-related transcription factor 1 | RUNX1 | 38 | Annotation score: | ||
A0A0C4DG58 | A0A0C4DG58_HUMAN | Runt-related transcription factor 1 | RUNX1 | 32 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 412 | S → F in AAA51720 (Ref. 1) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_012128 | 139 | R → Q in FPDMM. 1 PublicationCorresponds to variant dbSNP:rs1060499616Ensembl. | 1 | |
Natural variantiVAR_012129 | 174 | R → Q in FPDMM; impaired phosphorylation. 2 PublicationsCorresponds to variant dbSNP:rs74315450Ensembl. | 1 | |
Natural variantiVAR_013177 | 431 | S → R. Corresponds to variant dbSNP:rs1055308Ensembl. | 1 | |
Natural variantiVAR_013178 | 433 | S → R. Corresponds to variant dbSNP:rs1055309Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_005919 | 1 – 105 | Missing in isoform AML-1L. 2 PublicationsAdd BLAST | 105 | |
Alternative sequenceiVSP_005917 | 1 – 5 | MRIPV → MASDSIFESFPSYPQCFMRE CILGMNPSRDVH in isoform AML-1G. 3 Publications | 5 | |
Alternative sequenceiVSP_005916 | 1 – 5 | MRIPV → MNPSRDVH in isoform AML-1H. Curated | 5 | |
Alternative sequenceiVSP_005918 | 1 – 5 | MRIPV → MPAAPRGPAQGEAAARTRSR in isoform AML-1I. Curated | 5 | |
Alternative sequenceiVSP_005920 | 137 – 242 | VGRSG…SQMQD → VDGPREPRRHRQKLDDQTKP GSLSFSERLSELEQLRRTAM RVSPHHPAPTPNPRASLNHS TAFNPQPQSQMQDTRQIQPS PPWSYDQSYQYLGSIASPSV HPATPI in isoform AML-1FC. CuratedAdd BLAST | 106 | |
Alternative sequenceiVSP_005923 | 178 – 224 | RHRQK…PNPRA → SKCIHLGLVHPPGWYTLQAG ILRDHVSDSLGSTFPPGGWQ APVKPKS in isoform AML-1FA. CuratedAdd BLAST | 47 | |
Alternative sequenceiVSP_005921 | 178 – 188 | RHRQKLDDQTK → NSLTWPRYPHI in isoform AML-1FB. CuratedAdd BLAST | 11 | |
Alternative sequenceiVSP_005922 | 189 – 453 | Missing in isoform AML-1FB. CuratedAdd BLAST | 265 | |
Alternative sequenceiVSP_005924 | 225 – 453 | Missing in isoform AML-1FA. CuratedAdd BLAST | 229 | |
Alternative sequenceiVSP_005926 | 242 – 250 | DTRQIQPSP → EEDTAPWRC in isoform AML-1C. 1 Publication | 9 | |
Alternative sequenceiVSP_005925 | 243 – 453 | Missing in isoform AML-1FC. CuratedAdd BLAST | 211 | |
Alternative sequenceiVSP_005927 | 251 – 453 | Missing in isoform AML-1C. 1 PublicationAdd BLAST | 203 | |
Alternative sequenceiVSP_005928 | 258 – 453 | Missing in isoform AML-1E. 1 PublicationAdd BLAST | 196 | |
Alternative sequenceiVSP_005929 | 440 – 453 | APSAR…VWRPY → GGASCSRQARRDPGPWARTP SWGRGRPTDRISL in isoform AML-1A. 2 PublicationsAdd BLAST | 14 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L34598 mRNA Translation: AAA51720.1 D43967 mRNA Translation: BAA07902.1 D10570 mRNA Translation: BAA01426.1 S76345 mRNA Translation: AAB33729.1 S76346 mRNA Translation: AAB33730.1 S76350 mRNA Translation: AAB33731.1 S60998 mRNA No translation available. X79549 mRNA Translation: CAA56092.1 D43968 mRNA Translation: BAA07903.1 D43969 mRNA Translation: BAA07904.1 U19601 mRNA Translation: AAB51691.1 L21756 mRNA Translation: AAA03086.1 Different termination. S69002 mRNA Translation: AAB29907.1 Different termination. D13979 mRNA Translation: BAA03089.1 D14822 mRNA Translation: BAA03559.1 Different termination. D14823 mRNA Translation: BAA03560.1 Different termination. S78158 mRNA Translation: AAB34819.2 Different termination. S78159 mRNA Translation: AAB34820.2 Different termination. S50186 Genomic DNA No translation available. S78496 mRNA No translation available. S74092 Genomic DNA No translation available. X90979 mRNA Translation: CAA62466.1 X90976 mRNA Translation: CAA62464.1 D89790 mRNA Translation: BAA14022.1 D89788 mRNA Translation: BAA14020.1 D89789 mRNA Translation: BAA14021.1 AP000330 Genomic DNA No translation available. AP000331 Genomic DNA No translation available. AP000332 Genomic DNA No translation available. AP000333 Genomic DNA No translation available. AP000334 Genomic DNA No translation available. AF015262 Genomic DNA No translation available. CH471079 Genomic DNA Translation: EAX09769.1 CH471079 Genomic DNA Translation: EAX09770.1 BC136380 mRNA Translation: AAI36381.1 BC136381 mRNA Translation: AAI36382.1 BC144053 mRNA Translation: AAI44054.1 AF025841 Genomic DNA Translation: AAC05246.1 Different initiation. AF025841 Genomic DNA Translation: AAC05247.1 Different initiation. AJ229043 Genomic DNA Translation: CAA13070.1 |
CCDSi | CCDS13639.1 [Q01196-8] CCDS42922.1 [Q01196-1] CCDS46646.1 [Q01196-3] |
PIRi | I39443 S57842 |
RefSeqi | NP_001001890.1, NM_001001890.2 [Q01196-1] NP_001116079.1, NM_001122607.1 [Q01196-3] NP_001745.2, NM_001754.4 [Q01196-8] XP_005261125.1, XM_005261068.3 [Q01196-10] XP_011528068.1, XM_011529766.2 [Q01196-8] |
Genome annotation databases
Ensembli | ENST00000300305; ENSP00000300305; ENSG00000159216 [Q01196-8] ENST00000344691; ENSP00000340690; ENSG00000159216 [Q01196-1] ENST00000358356; ENSP00000351123; ENSG00000159216 [Q01196-3] ENST00000437180; ENSP00000409227; ENSG00000159216 [Q01196-8] ENST00000675419; ENSP00000501943; ENSG00000159216 [Q01196-8] |
GeneIDi | 861 |
KEGGi | hsa:861 |
UCSCi | uc002yuh.3, human [Q01196-1] |
Keywords - Coding sequence diversityi
Alternative splicing, Chromosomal rearrangementSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L34598 mRNA Translation: AAA51720.1 D43967 mRNA Translation: BAA07902.1 D10570 mRNA Translation: BAA01426.1 S76345 mRNA Translation: AAB33729.1 S76346 mRNA Translation: AAB33730.1 S76350 mRNA Translation: AAB33731.1 S60998 mRNA No translation available. X79549 mRNA Translation: CAA56092.1 D43968 mRNA Translation: BAA07903.1 D43969 mRNA Translation: BAA07904.1 U19601 mRNA Translation: AAB51691.1 L21756 mRNA Translation: AAA03086.1 Different termination. S69002 mRNA Translation: AAB29907.1 Different termination. D13979 mRNA Translation: BAA03089.1 D14822 mRNA Translation: BAA03559.1 Different termination. D14823 mRNA Translation: BAA03560.1 Different termination. S78158 mRNA Translation: AAB34819.2 Different termination. S78159 mRNA Translation: AAB34820.2 Different termination. S50186 Genomic DNA No translation available. S78496 mRNA No translation available. S74092 Genomic DNA No translation available. X90979 mRNA Translation: CAA62466.1 X90976 mRNA Translation: CAA62464.1 D89790 mRNA Translation: BAA14022.1 D89788 mRNA Translation: BAA14020.1 D89789 mRNA Translation: BAA14021.1 AP000330 Genomic DNA No translation available. AP000331 Genomic DNA No translation available. AP000332 Genomic DNA No translation available. AP000333 Genomic DNA No translation available. AP000334 Genomic DNA No translation available. AF015262 Genomic DNA No translation available. CH471079 Genomic DNA Translation: EAX09769.1 CH471079 Genomic DNA Translation: EAX09770.1 BC136380 mRNA Translation: AAI36381.1 BC136381 mRNA Translation: AAI36382.1 BC144053 mRNA Translation: AAI44054.1 AF025841 Genomic DNA Translation: AAC05246.1 Different initiation. AF025841 Genomic DNA Translation: AAC05247.1 Different initiation. AJ229043 Genomic DNA Translation: CAA13070.1 |
CCDSi | CCDS13639.1 [Q01196-8] CCDS42922.1 [Q01196-1] CCDS46646.1 [Q01196-3] |
PIRi | I39443 S57842 |
RefSeqi | NP_001001890.1, NM_001001890.2 [Q01196-1] NP_001116079.1, NM_001122607.1 [Q01196-3] NP_001745.2, NM_001754.4 [Q01196-8] XP_005261125.1, XM_005261068.3 [Q01196-10] XP_011528068.1, XM_011529766.2 [Q01196-8] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1CMO | NMR | - | A | 52-178 | [»] | |
1CO1 | NMR | - | A | 61-175 | [»] | |
1E50 | X-ray | 2.60 | A/C/E/G/Q/R | 50-183 | [»] | |
1H9D | X-ray | 2.60 | A/C | 50-183 | [»] | |
1LJM | X-ray | 2.50 | A/B | 51-181 | [»] | |
SMRi | Q01196 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107309, 234 interactors |
CORUMi | Q01196 |
DIPi | DIP-36773N |
ELMi | Q01196 |
IntActi | Q01196, 39 interactors |
MINTi | Q01196 |
STRINGi | 9606.ENSP00000300305 |
Chemistry databases
BindingDBi | Q01196 |
PTM databases
GlyGeni | Q01196, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | Q01196 |
MetOSitei | Q01196 |
PhosphoSitePlusi | Q01196 |
Genetic variation databases
BioMutai | RUNX1 |
DMDMi | 215274205 |
Proteomic databases
EPDi | Q01196 |
jPOSTi | Q01196 |
MassIVEi | Q01196 |
MaxQBi | Q01196 |
PaxDbi | Q01196 |
PeptideAtlasi | Q01196 |
PRIDEi | Q01196 |
ProteomicsDBi | 57927 [Q01196-1] 57928 [Q01196-10] 57929 [Q01196-11] 57930 [Q01196-2] 57931 [Q01196-3] 57932 [Q01196-4] 57933 [Q01196-5] 57934 [Q01196-6] 57935 [Q01196-7] 57936 [Q01196-8] 57937 [Q01196-9] |
Protocols and materials databases
Antibodypediai | 935, 1076 antibodies |
Genome annotation databases
Ensembli | ENST00000300305; ENSP00000300305; ENSG00000159216 [Q01196-8] ENST00000344691; ENSP00000340690; ENSG00000159216 [Q01196-1] ENST00000358356; ENSP00000351123; ENSG00000159216 [Q01196-3] ENST00000437180; ENSP00000409227; ENSG00000159216 [Q01196-8] ENST00000675419; ENSP00000501943; ENSG00000159216 [Q01196-8] |
GeneIDi | 861 |
KEGGi | hsa:861 |
UCSCi | uc002yuh.3, human [Q01196-1] |
Organism-specific databases
CTDi | 861 |
DisGeNETi | 861 |
GeneCardsi | RUNX1 |
HGNCi | HGNC:10471, RUNX1 |
HPAi | ENSG00000159216, Tissue enhanced (breast, lymphoid tissue) |
MalaCardsi | RUNX1 |
MIMi | 151385, gene 601399, phenotype |
neXtProti | NX_Q01196 |
OpenTargetsi | ENSG00000159216 |
Orphaneti | 102724, Acute myeloid leukemia with t(8;21)(q22;q22) translocation 98850, Aggressive systemic mastocytosis 521, Chronic myeloid leukemia 71290, Familial platelet disorder with associated myeloid malignancy 248340, Isolated delta-storage pool disease 99860, Precursor B-cell acute lymphoblastic leukemia |
PharmGKBi | PA34884 |
VEuPathDBi | HostDB:ENSG00000159216.18 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3982, Eukaryota |
GeneTreei | ENSGT00940000159255 |
HOGENOMi | CLU_032910_1_0_1 |
InParanoidi | Q01196 |
OMAi | PRVNHST |
OrthoDBi | 562214at2759 |
PhylomeDBi | Q01196 |
TreeFami | TF321496 |
Enzyme and pathway databases
PathwayCommonsi | Q01196 |
Reactomei | R-HSA-1912408, Pre-NOTCH Transcription and Translation R-HSA-549127, Organic cation transport R-HSA-8877330, RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) R-HSA-8931987, RUNX1 regulates estrogen receptor mediated transcription R-HSA-8934593, Regulation of RUNX1 Expression and Activity R-HSA-8935964, RUNX1 regulates expression of components of tight junctions R-HSA-8936459, RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function R-HSA-8939236, RUNX1 regulates transcription of genes involved in differentiation of HSCs R-HSA-8939242, RUNX1 regulates transcription of genes involved in differentiation of keratinocytes R-HSA-8939243, RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known R-HSA-8939245, RUNX1 regulates transcription of genes involved in BCR signaling R-HSA-8939246, RUNX1 regulates transcription of genes involved in differentiation of myeloid cells R-HSA-8939247, RUNX1 regulates transcription of genes involved in interleukin signaling R-HSA-8939256, RUNX1 regulates transcription of genes involved in WNT signaling R-HSA-8941333, RUNX2 regulates genes involved in differentiation of myeloid cells R-HSA-8951936, RUNX3 regulates p14-ARF R-HSA-9018519, Estrogen-dependent gene expression R-HSA-9616222, Transcriptional regulation of granulopoiesis |
SignaLinki | Q01196 |
SIGNORi | Q01196 |
Miscellaneous databases
BioGRID-ORCSi | 861, 39 hits in 897 CRISPR screens |
ChiTaRSi | RUNX1, human |
EvolutionaryTracei | Q01196 |
GeneWikii | RUNX1 |
GenomeRNAii | 861 |
Pharosi | Q01196, Tbio |
PROi | PR:Q01196 |
RNActi | Q01196, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000159216, Expressed in epithelium of mammary gland and 207 other tissues |
ExpressionAtlasi | Q01196, baseline and differential |
Genevisiblei | Q01196, HS |
Family and domain databases
Gene3Di | 2.60.40.720, 1 hit 4.10.770.10, 1 hit |
InterProi | View protein in InterPro IPR000040, AML1_Runt IPR008967, p53-like_TF_DNA-bd IPR012346, p53/RUNT-type_TF_DNA-bd_sf IPR013524, Runt_dom IPR027384, Runx_central_dom_sf IPR013711, RunxI_C_dom IPR016554, TF_Runt-rel_RUNX |
PANTHERi | PTHR11950, PTHR11950, 1 hit |
Pfami | View protein in Pfam PF00853, Runt, 1 hit PF08504, RunxI, 1 hit |
PIRSFi | PIRSF009374, TF_Runt-rel_RUNX, 1 hit |
PRINTSi | PR00967, ONCOGENEAML1 |
SUPFAMi | SSF49417, SSF49417, 1 hit |
PROSITEi | View protein in PROSITE PS51062, RUNT, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RUNX1_HUMAN | |
Accessioni | Q01196Primary (citable) accession number: Q01196 Secondary accession number(s): A8MV94 Q92479 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | April 1, 1993 |
Last sequence update: | November 25, 2008 | |
Last modified: | February 10, 2021 | |
This is version 243 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 21
Human chromosome 21: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references