UniProtKB - P42568 (AF9_HUMAN)
Protein AF-9
MLLT3
Functioni
Activity regulationi
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 58 | Histone H3K9crCombined sources2 Publications | 1 | |
Binding sitei | 80 | Inhibitor XL-07i; via carbonyl oxygenCombined sources1 Publication | 1 | |
Binding sitei | 103 | Histone H3K9crCombined sources2 Publications | 1 | |
Binding sitei | 103 | Inhibitor XL-07iCombined sources1 Publication | 1 | |
Sitei | 375 | KMT2A/MLL1 fusion point (in acute myeloid leukemia patient CO)1 Publication | 1 | |
Sitei | 481 | KMT2A/MLL1 fusion point (in acute myeloid leukemia patient F1)1 Publication | 1 |
GO - Molecular functioni
- chromatin binding Source: UniProtKB
- DNA binding Source: UniProtKB-KW
- histone binding Source: UniProtKB
- lysine-acetylated histone binding Source: UniProtKB
- modification-dependent protein binding Source: UniProtKB
GO - Biological processi
- anterior/posterior pattern specification Source: Ensembl
- hematopoietic stem cell differentiation Source: UniProtKB
- negative regulation of canonical Wnt signaling pathway Source: MGI
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of Wnt signaling pathway, planar cell polarity pathway Source: MGI
- regulation of chromatin organization Source: UniProtKB
- regulation of stem cell division Source: UniProtKB
- segment specification Source: Ensembl
- transcription by RNA polymerase II Source: Reactome
- transcription elongation from RNA polymerase II promoter Source: Reactome
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | P42568 |
Reactomei | R-HSA-112382, Formation of RNA Pol II elongation complex R-HSA-674695, RNA Polymerase II Pre-transcription Events R-HSA-75955, RNA Polymerase II Transcription Elongation |
SIGNORi | P42568 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein AF-9CuratedAlternative name(s): ALL1-fused gene from chromosome 9 protein1 Publication Myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein1 Publication YEATS domain-containing protein 3 |
Gene namesi | |
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
EuPathDBi | HostDB:ENSG00000171843.15 |
HGNCi | HGNC:7136, MLLT3 |
MIMi | 159558, gene |
neXtProti | NX_P42568 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation1 Publication
Other locations
- Chromosome 2 Publications
Note: Colocalizes with acylated histone H3 (PubMed:25417107, PubMed:27105114). Colocalizes with histone H3 crotonylated at 'Lys-18' (H3K18cr) (PubMed:27105114).2 Publications
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: ProtInc
- transcription elongation factor complex Source: UniProtKB
Other locations
- chromosome Source: UniProtKB-SubCell
Keywords - Cellular componenti
Chromosome, NucleusPathology & Biotechi
Involvement in diseasei
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 28 | F → A: Decreased binding to crotonylated histone H3. Decreased binding to acetylated histone H3. 2 Publications | 1 | |
Mutagenesisi | 56 | H → A: Decreased binding to crotonylated histone H3. Decreased binding to acetylated histone H3. 2 Publications | 1 | |
Mutagenesisi | 58 | S → A: Decreased binding to crotonylated histone H3. Decreased binding to acetylated histone H3. 2 Publications | 1 | |
Mutagenesisi | 59 | F → A: Strongly decreased binding to crotonylated histone H3. Decreased binding to acetylated histone H3. 3 Publications | 1 | |
Mutagenesisi | 61 – 67 | RPKRVCK → EPERVCE: Decreased DNA-binding. 1 Publication | 7 | |
Mutagenesisi | 77 | G → A: Decreased binding to crotonylated histone H3. Decreased binding to acetylated histone H3. 2 Publications | 1 | |
Mutagenesisi | 78 – 79 | YA → WG: Binds equally well acetylated and crotonylated histone H3. 1 Publication | 2 | |
Mutagenesisi | 78 | Y → A: Strongly decreased binding to crotonylated histone H3. Decreased binding to acetylated histone H3. 3 Publications | 1 | |
Mutagenesisi | 78 | Y → W: Does not affect ability to discriminate between acetylated and crotonylated histone H3. 1 Publication | 1 | |
Mutagenesisi | 81 | F → A: Decreased binding to acetylated histone H3. 1 Publication | 1 | |
Mutagenesisi | 103 | D → A: Decreased binding to acetylated histone H3. 1 Publication | 1 |
Keywords - Diseasei
Proto-oncogeneOrganism-specific databases
DisGeNETi | 4300 |
MalaCardsi | MLLT3 |
OpenTargetsi | ENSG00000171843 |
Orphaneti | 402017, Acute myeloid leukemia with t(9;11)(p22;q23) |
PharmGKBi | PA30852 |
Miscellaneous databases
Pharosi | P42568, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4295761 |
Polymorphism and mutation databases
BioMutai | MLLT3 |
DMDMi | 215273971 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000215921 | 1 – 568 | Protein AF-9Add BLAST | 568 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 288 | PhosphoserineCombined sources | 1 | |
Modified residuei | 294 | PhosphoserineCombined sources | 1 | |
Cross-linki | 339 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 412 | PhosphoserineCombined sources | 1 | |
Modified residuei | 419 | PhosphoserineCombined sources | 1 | |
Modified residuei | 483 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
jPOSTi | P42568 |
MassIVEi | P42568 |
MaxQBi | P42568 |
PaxDbi | P42568 |
PeptideAtlasi | P42568 |
PRIDEi | P42568 |
ProteomicsDBi | 55517 [P42568-1] 6833 |
PTM databases
iPTMneti | P42568 |
PhosphoSitePlusi | P42568 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000171843, Expressed in subventricular zone (outer) (primate) and 209 other tissues |
ExpressionAtlasi | P42568, baseline and differential |
Genevisiblei | P42568, HS |
Organism-specific databases
HPAi | ENSG00000171843, Low tissue specificity |
Interactioni
Subunit structurei
Component of the super elongation complex (SEC), at least composed of EAF1, EAF2, CDK9, MLLT3/AF9, AFF (AFF1 or AFF4), the P-TEFb complex and ELL (ELL, ELL2 or ELL3) (PubMed:20159561, PubMed:20471948, PubMed:22195968, PubMed:23260655, PubMed:25417107).
Interacts with BCOR (PubMed:10898795).
Interacts with CBX8 (PubMed:11313972).
Interacts with ALKBH4 (PubMed:23145062).
8 PublicationsBinary interactionsi
Hide detailsP42568
GO - Molecular functioni
- histone binding Source: UniProtKB
- lysine-acetylated histone binding Source: UniProtKB
- modification-dependent protein binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 110446, 71 interactors |
CORUMi | P42568 |
DIPi | DIP-56409N |
IntActi | P42568, 51 interactors |
MINTi | P42568 |
STRINGi | 9606.ENSP00000369695 |
Miscellaneous databases
RNActi | P42568, protein |
Structurei
Secondary structure
3D structure databases
BMRBi | P42568 |
SMRi | P42568 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 1 – 138 | YEATSPROSITE-ProRule annotationAdd BLAST | 138 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 56 – 58 | Inhibitor XL-07i bindingCombined sources1 Publication | 3 | |
Regioni | 78 – 80 | Histone H3K9cr bindingCombined sources2 Publications | 3 | |
Regioni | 106 – 109 | Inhibitor XL-07i bindingCombined sources1 Publication | 4 | |
Regioni | 106 – 108 | Histone H3K9cr bindingCombined sources2 Publications | 3 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 295 – 300 | Nuclear localization signalSequence analysis | 6 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 149 – 194 | Poly-SerAdd BLAST | 46 | |
Compositional biasi | 383 – 391 | Poly-Ser | 9 | |
Compositional biasi | 466 – 469 | Poly-Pro | 4 |
Domaini
Phylogenomic databases
eggNOGi | KOG3149, Eukaryota |
GeneTreei | ENSGT00940000155903 |
InParanoidi | P42568 |
OMAi | MSKEPKA |
PhylomeDBi | P42568 |
TreeFami | TF314586 |
Family and domain databases
DisProti | DP01070 |
Gene3Di | 2.60.40.1970, 1 hit |
IDEALi | IID00552 |
InterProi | View protein in InterPro IPR040930, AF-9_AHD IPR038704, YEAST_sf IPR005033, YEATS |
PANTHERi | PTHR23195, PTHR23195, 1 hit |
Pfami | View protein in Pfam PF17793, AHD, 1 hit PF03366, YEATS, 1 hit |
PROSITEi | View protein in PROSITE PS51037, YEATS, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 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
MASSCAVQVK LELGHRAQVR KKPTVEGFTH DWMVFVRGPE HSNIQHFVEK
60 70 80 90 100
VVFHLHESFP RPKRVCKDPP YKVEESGYAG FILPIEVYFK NKEEPRKVRF
110 120 130 140 150
DYDLFLHLEG HPPVNHLRCE KLTFNNPTED FRRKLLKAGG DPNRSIHTSS
160 170 180 190 200
SSSSSSSSSS SSSSSSSSSS SSSSSSSSSS SSSSSSSSSS TSFSKPHKLM
210 220 230 240 250
KEHKEKPSKD SREHKSAFKE PSRDHNKSSK ESSKKPKENK PLKEEKIVPK
260 270 280 290 300
MAFKEPKPMS KEPKPDSNLL TITSGQDKKA PSKRPPISDS EELSAKKRKK
310 320 330 340 350
SSSEALFKSF SSAPPLILTC SADKKQIKDK SHVKMGKVKI ESETSEKKKS
360 370 380 390 400
TLPPFDDIVD PNDSDVEENI SSKSDSEQPS PASSSSSSSS SFTPSQTRQQ
410 420 430 440 450
GPLRSIMKDL HSDDNEEESD EVEDNDNDSE MERPVNRGGS RSRRVSLSDG
460 470 480 490 500
SDSESSSASS PLHHEPPPPL LKTNNNQILE VKSPIKQSKS DKQIKNGECD
510 520 530 540 550
KAYLDELVEL HRRLMTLRER HILQQIVNLI EETGHFHITN TTFDFDLCSL
560
DKTTVRKLQS YLETSGTS
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketB1APT5 | B1APT5_HUMAN | Protein AF-9 | MLLT3 | 162 | Annotation score: | ||
A0A0D9SF09 | A0A0D9SF09_HUMAN | Myeloid/lymphoid or mixed-lineage l... | MLLT3 hCG_1811108 | 138 | Annotation score: | ||
A0A6Q8PGU4 | A0A6Q8PGU4_HUMAN | Protein AF-9 | MLLT3 | 108 | Annotation score: | ||
A0A6Q8PH64 | A0A6Q8PH64_HUMAN | Protein AF-9 | MLLT3 | 67 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 6 | A → S in AAA58361 (PubMed:8506309).Curated | 1 | |
Sequence conflicti | 6 | A → S in BAG35760 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 173 | S → G in AAH36089 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 419 | S → P in BAG35760 (PubMed:14702039).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_054924 | 1 – 4 | MASS → M in isoform 2. 1 Publication | 4 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | L13744 mRNA Translation: AAA58361.1 AK301474 mRNA Translation: BAH13491.1 AK312914 mRNA Translation: BAG35760.1 AL354879 Genomic DNA No translation available. AL512635 Genomic DNA No translation available. AL513498 Genomic DNA No translation available. AL163193 Genomic DNA No translation available. AL627410 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58631.1 CH471071 Genomic DNA Translation: EAW58632.1 BC036089 mRNA Translation: AAH36089.1 |
CCDSi | CCDS6494.1 [P42568-1] CCDS69579.1 [P42568-2] |
PIRi | I39411 |
RefSeqi | NP_001273620.1, NM_001286691.1 [P42568-2] NP_004520.2, NM_004529.3 [P42568-1] |
Genome annotation databases
Ensembli | ENST00000380338; ENSP00000369695; ENSG00000171843 [P42568-1] ENST00000630269; ENSP00000485996; ENSG00000171843 [P42568-2] |
GeneIDi | 4300 |
KEGGi | hsa:4300 |
UCSCi | uc003zoe.3, human [P42568-1] |
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 | L13744 mRNA Translation: AAA58361.1 AK301474 mRNA Translation: BAH13491.1 AK312914 mRNA Translation: BAG35760.1 AL354879 Genomic DNA No translation available. AL512635 Genomic DNA No translation available. AL513498 Genomic DNA No translation available. AL163193 Genomic DNA No translation available. AL627410 Genomic DNA No translation available. CH471071 Genomic DNA Translation: EAW58631.1 CH471071 Genomic DNA Translation: EAW58632.1 BC036089 mRNA Translation: AAH36089.1 |
CCDSi | CCDS6494.1 [P42568-1] CCDS69579.1 [P42568-2] |
PIRi | I39411 |
RefSeqi | NP_001273620.1, NM_001286691.1 [P42568-2] NP_004520.2, NM_004529.3 [P42568-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2LM0 | NMR | - | A | 490-568 | [»] | |
2MV7 | NMR | - | A | 500-568 | [»] | |
2N4Q | NMR | - | B | 500-568 | [»] | |
2NDF | NMR | - | A | 1-138 | [»] | |
2NDG | NMR | - | A | 1-138 | [»] | |
4TMP | X-ray | 2.30 | A/C | 1-138 | [»] | |
5HJB | X-ray | 2.70 | A | 1-138 | [»] | |
5HJD | X-ray | 2.81 | A/C/E/G/K/N/Q/T | 1-138 | [»] | |
5YYF | X-ray | 1.90 | A/C | 1-138 | [»] | |
6B7G | NMR | - | A | 500-568 | [»] | |
6MIL | X-ray | 1.93 | A/C | 1-138 | [»] | |
6MIM | X-ray | 2.52 | A/C | 1-138 | [»] | |
BMRBi | P42568 | |||||
SMRi | P42568 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110446, 71 interactors |
CORUMi | P42568 |
DIPi | DIP-56409N |
IntActi | P42568, 51 interactors |
MINTi | P42568 |
STRINGi | 9606.ENSP00000369695 |
Chemistry databases
ChEMBLi | CHEMBL4295761 |
PTM databases
iPTMneti | P42568 |
PhosphoSitePlusi | P42568 |
Polymorphism and mutation databases
BioMutai | MLLT3 |
DMDMi | 215273971 |
Proteomic databases
jPOSTi | P42568 |
MassIVEi | P42568 |
MaxQBi | P42568 |
PaxDbi | P42568 |
PeptideAtlasi | P42568 |
PRIDEi | P42568 |
ProteomicsDBi | 55517 [P42568-1] 6833 |
Protocols and materials databases
Antibodypediai | 1068, 273 antibodies |
Genome annotation databases
Ensembli | ENST00000380338; ENSP00000369695; ENSG00000171843 [P42568-1] ENST00000630269; ENSP00000485996; ENSG00000171843 [P42568-2] |
GeneIDi | 4300 |
KEGGi | hsa:4300 |
UCSCi | uc003zoe.3, human [P42568-1] |
Organism-specific databases
CTDi | 4300 |
DisGeNETi | 4300 |
EuPathDBi | HostDB:ENSG00000171843.15 |
GeneCardsi | MLLT3 |
HGNCi | HGNC:7136, MLLT3 |
HPAi | ENSG00000171843, Low tissue specificity |
MalaCardsi | MLLT3 |
MIMi | 159558, gene |
neXtProti | NX_P42568 |
OpenTargetsi | ENSG00000171843 |
Orphaneti | 402017, Acute myeloid leukemia with t(9;11)(p22;q23) |
PharmGKBi | PA30852 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3149, Eukaryota |
GeneTreei | ENSGT00940000155903 |
InParanoidi | P42568 |
OMAi | MSKEPKA |
PhylomeDBi | P42568 |
TreeFami | TF314586 |
Enzyme and pathway databases
PathwayCommonsi | P42568 |
Reactomei | R-HSA-112382, Formation of RNA Pol II elongation complex R-HSA-674695, RNA Polymerase II Pre-transcription Events R-HSA-75955, RNA Polymerase II Transcription Elongation |
SIGNORi | P42568 |
Miscellaneous databases
BioGRID-ORCSi | 4300, 15 hits in 848 CRISPR screens |
ChiTaRSi | MLLT3, human |
GeneWikii | MLLT3 |
GenomeRNAii | 4300 |
Pharosi | P42568, Tbio |
PROi | PR:P42568 |
RNActi | P42568, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000171843, Expressed in subventricular zone (outer) (primate) and 209 other tissues |
ExpressionAtlasi | P42568, baseline and differential |
Genevisiblei | P42568, HS |
Family and domain databases
DisProti | DP01070 |
Gene3Di | 2.60.40.1970, 1 hit |
IDEALi | IID00552 |
InterProi | View protein in InterPro IPR040930, AF-9_AHD IPR038704, YEAST_sf IPR005033, YEATS |
PANTHERi | PTHR23195, PTHR23195, 1 hit |
Pfami | View protein in Pfam PF17793, AHD, 1 hit PF03366, YEATS, 1 hit |
PROSITEi | View protein in PROSITE PS51037, YEATS, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | AF9_HUMAN | |
Accessioni | P42568Primary (citable) accession number: P42568 Secondary accession number(s): B1AMQ2 Q8IVB0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1995 |
Last sequence update: | November 25, 2008 | |
Last modified: | December 2, 2020 | |
This is version 177 of the entry and version 2 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 9
Human chromosome 9: entries, gene names and cross-references to MIM - 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