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 |