Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.1.1.359
Transferases;
Transferring one-carbon groups;
Methyltransferases;
[histone H3]-lysine36 N-trimethyltransferase
2.1.1.367
Transferases;
Transferring one-carbon groups;
Methyltransferases;
[histone H3]-lysine9 N-methyltransferase
| PDB | Resolution (Å) | PDB name |
|---|---|---|
| 3MQM | 2.54 | Crystal Structure of the Bromodomain of human ASH1L |
| 3OPE | 2.9 | Structural Basis of Auto-inhibitory mechanism of Histone methyltransferase |
| 4YNM | 2.19 | ASH1L wild-type SET domain in complex with S-adenosyl methionine (SAM) |
| 4YNP | 2.9 | ASH1L SET domain S2259M mutant in complex with S-adenosyl methionine (SAM) |
| 4YPA | 2.3 | ASH1L SET domain Q2265A mutant in complex with S-adenosyl methionine (SAM) |
| 4YPE | 2.2 | ASH1L SET domain H2193F mutant in complex with S-adenosyl methionine (SAM) |
| 4YPU | 2.6 | ASH1L SET domain K2264L mutant in complex with S-adenosyl methionine (SAM) |
| 6AGO | 3.103 | Crystal structure of MRG15-ASH1L Histone methyltransferase complex |
| 6INE | 2.6 | Crystal Structure of human ASH1L-MRG15 complex |
| 6WZW | 1.69 | Ash1L SET domain in complex with AS-85 |
| 6X0P | 1.69 | Ash1L SET domain Q2265A mutant in complex with AS-5 |
| 7Y0I | Solution structures of ASH1L PHD domain in complex with H3K4me2 peptide |
| GO ontology
|
GO term | GO description |
|---|---|---|
| Biological Process | GO:0007249 | I-kappaB kinase/NF-kappaB signaling |
| Biological Process | GO:0000165 | MAPK cascade |
| Biological Process | GO:0046697 | decidualization |
| Biological Process | GO:0030317 | flagellated sperm motility |
| Biological Process | GO:0097676 | histone H3-K36 dimethylation |
| Biological Process | GO:0006954 | inflammatory response |
| Biological Process | GO:0043124 | negative regulation of I-kappaB kinase/NF-kappaB signaling |
| Biological Process | GO:0043409 | negative regulation of MAPK cascade |
| Biological Process | GO:0002674 | negative regulation of acute inflammatory response |
| Biological Process | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| Biological Process | GO:0009791 | post-embryonic development |
| Biological Process | GO:0006355 | regulation of DNA-templated transcription |
| Biological Process | GO:0007338 | single fertilization |
| Biological Process | GO:0001501 | skeletal system development |
| Biological Process | GO:1903699 | tarsal gland development |
| Biological Process | GO:0006366 | transcription by RNA polymerase II |
| Biological Process | GO:1903709 | uterine gland development |
| Biological Process | GO:0061038 | uterus morphogenesis |
| Molecular Function | GO:0003677 | DNA binding |
| Molecular Function | GO:0003682 | chromatin binding |
| Molecular Function | GO:0046975 | histone H3K36 methyltransferase activity |
| Molecular Function | GO:0140955 | histone H3K36 trimethyltransferase activity |
| Molecular Function | GO:0042800 | histone H3K4 methyltransferase activity |
| Molecular Function | GO:0046974 | histone H3K9 methyltransferase activity |
| Molecular Function | GO:0140948 | histone H3K9 monomethyltransferase activity |
| Molecular Function | GO:0140947 | histone H3K9me2 methyltransferase activity |
| Molecular Function | GO:0046872 | metal ion binding |
| Cellular Component | GO:0005794 | Golgi apparatus |
| Cellular Component | GO:0005923 | bicellular tight junction |
| Cellular Component | GO:0005694 | chromosome |
| Cellular Component | GO:0005654 | nucleoplasm |
| Cellular Component | GO:0005634 | nucleus |
| InterPro
|
InterPro name |
|---|---|
| IPR001025 | Bromo adjacent homology (BAH) domain |
| IPR001214 | SET domain |
| IPR001487 | Bromodomain |
| IPR001965 | Zinc finger, PHD-type |
| IPR003616 | Post-SET domain |
| IPR006560 | AWS domain |
| IPR011011 | Zinc finger, FYVE/PHD-type |
| IPR013083 | Zinc finger, RING/FYVE/PHD-type |
| IPR017956 | AT hook, DNA-binding motif |
| IPR019786 | Zinc finger, PHD-type, conserved site |
| IPR036427 | Bromodomain-like superfamily |
| IPR043151 | Bromo adjacent homology (BAH) domain superfamily |
| IPR043319 | ASH1-like, PHD finger |
| IPR043320 | ASH1-like, Bromodomain |
| IPR046341 | SET domain superfamily |
| Pfam
|
Pfam name |
|---|---|
| PF00439 | Bromodomain |
| PF00856 | SET domain |
| PF01426 | BAH domain |
| PF17907 | AWS domain |
| Reactome
|
Reactome Name | Node type
|
Reactome Root | Reactome Root Name |
|---|---|---|---|---|
| R-HSA-3214841 | PKMTs methylate histone lysines | Leaf | R-HSA-4839726 | Chromatin organization |
| Location
|
ECO term
|
Pubmed |
|---|---|---|
| Cell junction, tight junction | ECO:0000269 | PubMed:10860993 |
| Chromosome | ECO:0000305 | PubMed:10860993 |
| Nucleus | ECO:0000269 | PubMed:10860993 |
| Nucleus | ECO:0000269 | PubMed:25593309 |
| HPO ID
|
HPO name |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000194 | Open mouth |
| HP:0000218 | High palate |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000268 | Dolichocephaly |
| HP:0000294 | Low anterior hairline |
| HP:0000316 | Hypertelorism |
| HP:0000319 | Smooth philtrum |
| HP:0000322 | Short philtrum |
| HP:0000369 | Low-set ears |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000426 | Prominent nasal bridge |
| HP:0000444 | Convex nasal ridge |
| HP:0000448 | Prominent nose |
| HP:0000463 | Anteverted nares |
| HP:0000483 | Astigmatism |
| HP:0000486 | Strabismus |
| HP:0000490 | Deeply set eye |
| HP:0000540 | Hypermetropia |
| HP:0000664 | Synophrys |
| HP:0000666 | Horizontal nystagmus |
| HP:0000729 | Autistic behavior |
| HP:0000733 | Abnormal repetitive mannerisms |
| HP:0000737 | Irritability |
| HP:0000739 | Anxiety |
| HP:0000750 | Delayed speech and language development |
| HP:0000752 | Hyperactivity |
| HP:0000768 | Pectus carinatum |
| HP:0000821 | Hypothyroidism |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001262 | Excessive daytime somnolence |
| HP:0001263 | Global developmental delay |
| HP:0001344 | Absent speech |
| HP:0001518 | Small for gestational age |
| HP:0001623 | Breech presentation |
| HP:0002188 | Delayed CNS myelination |
| HP:0002360 | Sleep disturbance |
| HP:0002714 | Downturned corners of mouth |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003691 | Scapular winging |
| HP:0004602 | Cervical C2/C3 vertebral fusion |
| HP:0004626 | Lumbar scoliosis |
| HP:0005280 | Depressed nasal bridge |
| HP:0006610 | Wide intermamillary distance |
| HP:0008689 | Bilateral cryptorchidism |
| HP:0008770 | Obsessive-compulsive trait |
| HP:0008936 | Axial hypotonia |
| HP:0010722 | Asymmetry of the ears |
| HP:0011856 | Pica |
| HP:0011968 | Feeding difficulties |
| HP:0012450 | Chronic constipation |
| HP:0025502 | Overweight |
| Disease name | MONDO ID
|
ICD10
|
ICD10 chapter
|
OMIM
|
Orphanet
|
|---|---|---|---|---|---|
| intellectual disability, autosomal dominant 52 | MONDO:0030918 | F70 | chapter5, Mental and behavioural disorders | OMIM:617796 |