Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.1.1.-
Transferases;
Transferring one-carbon groups;
Methyltransferases;
2.1.1.364
Transferases;
Transferring one-carbon groups;
Methyltransferases;
[histone H3]-lysine4 N-methyltransferase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 2AGH | Structural basis for cooperative transcription factor binding to the CBP coactivator | |
| 2J2S | Solution structure of the nonmethyl-CpG-binding CXXC domain of the leukaemia-associated MLL histone methyltransferase | |
| 2JYI | Solution structure of MLL CXXC domain | |
| 2KKF | Solution structure of MLL CXXC domain in complex with palindromic CPG DNA | |
| 2KU7 | Solution structure of MLL1 PHD3-Cyp33 RRM chimeric protein | |
| 2KYU | The solution structure of the PHD3 finger of MLL | |
| 2LXS | Allosteric communication in the KIX domain proceeds through dynamic re-packing of the hydrophobic core | |
| 2LXT | Allosteric communication in the KIX domain proceeds through dynamic re-packing of the hydrophobic core | |
| 2MSR | Solution structure of LEDGF/p75 IBD in complex with MLL1 peptide (140-160) | |
| 2MTN | Solution structure of MLL-IBD complex | |
| 2W5Y | 2.0 | Binary Complex of the Mixed Lineage Leukaemia (MLL1) SET Domain with the cofactor product S-Adenosylhomocysteine. |
| 2W5Z | 2.2 | Ternary Complex of the Mixed Lineage Leukaemia (MLL1) SET Domain with the cofactor product S-Adenosylhomocysteine and histone peptide. |
| 3EG6 | 1.72 | Structure of WDR5 bound to MLL1 peptide |
| 3EMH | 1.37 | Structural basis of WDR5-MLL interaction |
| 3LQH | 1.72 | Crystal structure of MLL1 PHD3-Bromo in the free form |
| 3LQI | 1.92 | Crystal structure of MLL1 PHD3-Bromo complexed with H3(1-9)K4me2 peptide |
| 3LQJ | 1.9 | Crystal structure of MLL1 PHD3-Bromo complexed with H3(1-9)K4me3 peptide |
| 3P4F | 2.35 | Structural and biochemical insights into MLL1 core complex assembly and regulation. |
| 3U85 | 3.0 | Crystal structure of human menin in complex with MLL1 |
| 3U88 | 3.0 | Crystal structure of human menin in complex with MLL1 and LEDGF |
| 4ESG | 1.7 | X-ray structure of WDR5-MLL1 Win motif peptide binary complex |
| 4GQ6 | 1.55 | Human menin in complex with MLL peptide |
| 4NW3 | 2.82 | Crystal structure of MLL CXXC domain in complex with a CpG DNA |
| 5F5E | 1.802 | The Crystal Structure of MLL1 SET domain with N3816I/Q3867L mutation |
| 5F6L | 1.9 | The crystal structure of MLL1 (N3861I/Q3867L) in complex with RbBP5 and Ash2L |
| 5SVH | 2.05 | Crystal structure of the KIX domain of CBP in complex with a MLL/c-Myb chimera |
| 6EMQ | Solution structure of the LEDGF/p75 IBD - MLL1 (aa 111-160) complex | |
| 6KIU | 3.2 | Cryo-EM structure of human MLL1-ubNCP complex (3.2 angstrom) |
| 6KIV | 4.0 | Cryo-EM structure of human MLL1-ubNCP complex (4.0 angstrom) |
| 6KIX | 4.1 | Cryo-EM structure of human MLL1-NCP complex, binding mode1 |
| 6KIZ | 4.5 | Cryo-EM structure of human MLL1-NCP complex, binding mode2 |
| 6PWV | 6.2 | Cryo-EM structure of MLL1 core complex bound to the nucleosome |
| 6PWW | 4.4 | Cryo-EM structure of MLL1 in complex with RbBP5 and WDR5 bound to the nucleosome |
| 6U9K | 2.0 | MLL1 SET N3861I/Q3867L bound to inhibitor 18 (TC-5153) |
| 6U9M | 2.05 | MLL1 SET N3861I/Q3867L bound to inhibitor 16 (TC-5109) |
| 6U9N | 1.95 | MLL1 SET N3861I/Q3867L bound to inhibitor 14 (TC-5139) |
| 6U9R | 2.1 | MLL1 SET N3861I/Q3867L bound to inhibitor 12 (TC-5140) |
| 6W5I | 6.9 | Cryo-EM structure of MLL1 in complex with RbBP5, WDR5, SET1, and ASH2L bound to the nucleosome (Class01) |
| 6W5M | 4.6 | Cryo-EM structure of MLL1 in complex with RbBP5, WDR5, SET1, and ASH2L bound to the nucleosome (Class02) |
| 6W5N | 6.0 | Cryo-EM structure of MLL1 in complex with RbBP5, WDR5, SET1, and ASH2L bound to the nucleosome (Class05) |
| 7MBM | Cryo-EM structure of MLL1-NCP (H3K4M) complex, mode01 | |
| 7MBN | Cryo-EM structure of MLL1-NCP (H3K4M) complex, mode02 | |
| 7RZD | 1.82 | CRYSTAL STRUCTURE OF HLA-B*07:02 IN COMPLEX WITH MLL(747-755) PEPTIDE |
| 7RZJ | 1.8 | CRYSTAL STRUCTURE OF HLA-B*07:02 IN COMPLEX WITH MLL(747-755) PHOSPHOPEPTIDE |
| 7S79 | 1.53 | STRUCTURE OF HLA-B*07:02 IN COMPLEX WITH SYNTHETIC PHOSPHONO-MLL PEPTIDE ANALOG |
| 7S7D | 1.56 | STRUCTURE OF HLA-B*07:02 IN COMPLEX WITH SYNTHETIC SULFO-MLL PEPTIDE ANALOG |
| 7S8A | 2.1 | STRUCTURE OF HLA-B*07:02 IN COMPLEX WITH MLL(747-755) PHOSPHOPEPTIDE, CUBIC CRYSTAL FORM |
| 7S8E | 1.6 | STRUCTURE OF HLA-B*07:02 IN COMPLEX WITH MLL(747-755) PHOSPHOPEPTIDE AND BOUND GLYCEROL |
| 7S8F | 1.8 | STRUCTURE OF HLA-B*07:02 IN COMPLEX WITH MLL(747-755) PEPTIDE AND BOUND GLYCEROL |
| 7W67 | 2.194 | The crystal structure of MLL1 (N3861I/Q3867L/C3882SS)-RBBP5-ASH2L in complex with H3K4me0 peptide |
| 7W6A | 2.21 | Crystal structure of the MLL1 (N3861I/Q3867L/C3882SS)-RBBP5-ASH2L complex |
| 7W6I | 2.56 | The crystal structure of MLL1 (N3861I/Q3867L/C3882SS)-RBBP5-ASH2L in complex with H3K4me1 peptide |
| 7W6J | 2.68 | The crystal structure of MLL1 (N3861I/Q3867L/C3882SS)-RBBP5-ASH2L in complex with H3K4me2 peptide |
| 7ZEY | Complex Cyp33-RRM : MLL1-PHD3 | |
| 7ZEZ | Trimolecular complex Cyp33-RRMdelta alpha : MLL1-PHD3 : H3K4me3 |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0006306 | DNA methylation |
| Biological Process | GO:0045064 | T-helper 2 cell differentiation |
| Biological Process | GO:0009952 | anterior/posterior pattern specification |
| Biological Process | GO:0006915 | apoptotic process |
| Biological Process | GO:0032922 | circadian regulation of gene expression |
| Biological Process | GO:0060216 | definitive hemopoiesis |
| Biological Process | GO:0035162 | embryonic hemopoiesis |
| Biological Process | GO:0035640 | exploration behavior |
| Biological Process | GO:0048144 | fibroblast proliferation |
| Biological Process | GO:0051568 | histone H3-K4 methylation |
| Biological Process | GO:0080182 | histone H3-K4 trimethylation |
| Biological Process | GO:0048873 | homeostasis of number of cells within a tissue |
| Biological Process | GO:0051899 | membrane depolarization |
| Biological Process | GO:1905642 | negative regulation of DNA methylation |
| Biological Process | GO:0048147 | negative regulation of fibroblast proliferation |
| Biological Process | GO:0018026 | peptidyl-lysine monomethylation |
| Biological Process | GO:0045893 | positive regulation of DNA-templated transcription |
| Biological Process | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| Biological Process | GO:0032411 | positive regulation of transporter activity |
| Biological Process | GO:0009791 | post-embryonic development |
| Biological Process | GO:0065003 | protein-containing complex assembly |
| Biological Process | GO:0048172 | regulation of short-term neuronal synaptic plasticity |
| Biological Process | GO:0035864 | response to potassium ion |
| Biological Process | GO:0048536 | spleen development |
| Biological Process | GO:0045815 | transcription initiation-coupled chromatin remodeling |
| Biological Process | GO:0008542 | visual learning |
| Molecular Function | GO:0003682 | chromatin binding |
| Molecular Function | GO:0042800 | histone H3K4 methyltransferase activity |
| Molecular Function | GO:0140945 | histone H3K4 monomethyltransferase activity |
| Molecular Function | GO:0140999 | histone H3K4 trimethyltransferase activity |
| Molecular Function | GO:0042802 | identical protein binding |
| Molecular Function | GO:0070577 | lysine-acetylated histone binding |
| Molecular Function | GO:0003680 | minor groove of adenine-thymine-rich DNA binding |
| Molecular Function | GO:0042803 | protein homodimerization activity |
| Molecular Function | GO:0106363 | protein-cysteine methyltransferase activity |
| Molecular Function | GO:0045322 | unmethylated CpG binding |
| Molecular Function | GO:0008270 | zinc ion binding |
| Cellular Component | GO:0071339 | MLL1 complex |
| Cellular Component | GO:0005829 | cytosol |
| Cellular Component | GO:0035097 | histone methyltransferase complex |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| InterPro
|
InterPro name |
|---|---|
| IPR001214 | SET domain |
| IPR001487 | Bromodomain |
| IPR001965 | Zinc finger, PHD-type |
| IPR002857 | Zinc finger, CXXC-type |
| IPR003616 | Post-SET domain |
| IPR003888 | FY-rich, N-terminal |
| IPR003889 | FY-rich, C-terminal |
| IPR011011 | Zinc finger, FYVE/PHD-type |
| IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| IPR016569 | Methyltransferase, trithorax |
| IPR019787 | Zinc finger, PHD-finger |
| IPR034732 | Extended PHD (ePHD) domain |
| IPR036427 | Bromodomain-like superfamily |
| IPR041958 | KMT2A, ePHD domain |
| IPR042023 | KMT2A, PHD domain 1 |
| IPR042025 | KMT2A, PHD domain 2 |
| IPR044133 | KMT2A, PHD domain 3 |
| IPR046341 | SET domain superfamily |
| IPR047219 | Histone-lysine N-methyltransferase 2A/2B, SET domain |
| Pfam
|
Pfam name |
|---|---|
| PF00628 | PHD-finger |
| PF00856 | SET domain |
| PF02008 | CXXC zinc finger domain |
| PF05964 | F/Y-rich N-terminus |
| PF05965 | F/Y rich C-terminus |
| PF13771 | PHD-like zinc-binding domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-3214841 | PKMTs methylate histone lysines | Leaf | R-HSA-4839726 | Chromatin organization |
| R-HSA-8936459 | RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function | Leaf | R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-8939236 | RUNX1 regulates transcription of genes involved in differentiation of HSCs | Leaf | R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-9616222 | Transcriptional regulation of granulopoiesis | Leaf | R-HSA-1266738 | Developmental Biology |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Nucleus | ECO:0000269 | PubMed:12482972 |
| Nucleus | ECO:0000269 | PubMed:25593309 |
| Nucleus | ECO:0000269 | PubMed:34850113 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000218 | High palate |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000252 | Microcephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000286 | Epicanthus |
| HP:0000311 | Round face |
| HP:0000316 | Hypertelorism |
| HP:0000324 | Facial asymmetry |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000348 | High forehead |
| HP:0000369 | Low-set ears |
| HP:0000403 | Recurrent otitis media |
| HP:0000414 | Bulbous nose |
| HP:0000431 | Wide nasal bridge |
| HP:0000437 | Depressed nasal tip |
| HP:0000445 | Wide nose |
| HP:0000455 | Broad nasal tip |
| HP:0000465 | Webbed neck |
| HP:0000486 | Strabismus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000506 | Telecanthus |
| HP:0000508 | Ptosis |
| HP:0000527 | Long eyelashes |
| HP:0000574 | Thick eyebrow |
| HP:0000581 | Blepharophimosis |
| HP:0000592 | Blue sclerae |
| HP:0000637 | Long palpebral fissure |
| HP:0000664 | Synophrys |
| HP:0000668 | Hypodontia |
| HP:0000708 | Atypical behavior |
| HP:0000717 | Autism |
| HP:0000718 | Aggressive behavior |
| HP:0000733 | Abnormal repetitive mannerisms |
| HP:0000736 | Short attention span |
| HP:0000739 | Anxiety |
| HP:0000744 | Low frustration tolerance |
| HP:0000750 | Delayed speech and language development |
| HP:0000752 | Hyperactivity |
| HP:0000767 | Pectus excavatum |
| HP:0000824 | Decreased response to growth hormone stimulation test |
| HP:0000960 | Sacral dimple |
| HP:0001155 | Abnormality of the hand |
| HP:0001182 | Tapered finger |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0001388 | Joint laxity |
| HP:0001508 | Failure to thrive |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001631 | Atrial septal defect |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001763 | Pes planus |
| HP:0001831 | Short toe |
| HP:0001847 | Long hallux |
| HP:0002000 | Short columella |
| HP:0002015 | Dysphagia |
| HP:0002019 | Constipation |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002136 | Broad-based gait |
| HP:0002162 | Low posterior hairline |
| HP:0002194 | Delayed gross motor development |
| HP:0002230 | Generalized hirsutism |
| HP:0002263 | Exaggerated cupid's bow |
| HP:0002360 | Sleep disturbance |
| HP:0002361 | Psychomotor deterioration |
| HP:0002553 | Highly arched eyebrow |
| HP:0002650 | Scoliosis |
| HP:0002750 | Delayed skeletal maturation |
| HP:0003196 | Short nose |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0004322 | Short stature |
| HP:0004540 | Congenital, generalized hypertrichosis |
| HP:0004554 | Generalized hypertrichosis |
| HP:0004691 | 2-3 toe syndactyly |
| HP:0004780 | Elbow hypertrichosis |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0005819 | Short middle phalanx of finger |
| HP:0006712 | Aplasia/Hypoplasia of the ribs |
| HP:0007655 | Eversion of lateral third of lower eyelids |
| HP:0008897 | Postnatal growth retardation |
| HP:0008905 | Rhizomelia |
| HP:0009237 | Short 5th finger |
| HP:0009697 | Contracture of the distal interphalangeal joint of the fingers |
| HP:0009803 | Short phalanx of finger |
| HP:0009811 | Abnormality of the elbow |
| HP:0010485 | Hyperextensibility at elbow |
| HP:0011220 | Prominent forehead |
| HP:0011298 | Prominent digit pad |
| HP:0011463 | Childhood onset |
| HP:0011968 | Feeding difficulties |
| HP:0012368 | Flat face |
| HP:0012745 | Short palpebral fissure |
| HP:0030084 | Clinodactyly |
| HP:0031623 | Brow ptosis |
| HP:0045025 | Narrow palpebral fissure |
| HP:0100581 | Dilatation of renal calices |
| HP:0100874 | Thick hair |
| HP:0200055 | Small hand |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| wiedemann-steiner syndrome | MONDO:0011518 | Q87 | chapter17, Congenital malformations, deformations and chromosomal abnormalities | OMIM:605130 | Orphanet:319182 |