Protein family
Protein sequence
Protein function
Catalytic activity
EC number
EC number description
2.7.11.22
Transferases;
Transferring phosphorus-containing groups;
Protein-serine/threonine kinases;
cyclin-dependent kinase
2.7.11.23
Transferases;
Transferring phosphorus-containing groups;
Protein-serine/threonine kinases;
[RNA-polymerase]-subunit kinase
GO ontology | GO term | GO description |
---|---|---|
Biological Process | GO:0000380 | alternative mRNA splicing, via spliceosome |
Biological Process | GO:0030097 | hemopoiesis |
Biological Process | GO:2000737 | negative regulation of stem cell differentiation |
Biological Process | GO:0045944 | positive regulation of transcription by RNA polymerase II |
Biological Process | GO:0032968 | positive regulation of transcription elongation by RNA polymerase II |
Biological Process | GO:0006468 | protein phosphorylation |
Biological Process | GO:0009966 | regulation of signal transduction |
Molecular Function | GO:0005524 | ATP binding |
Molecular Function | GO:0003723 | RNA binding |
Molecular Function | GO:0008353 | RNA polymerase II CTD heptapeptide repeat kinase activity |
Molecular Function | GO:0030332 | cyclin binding |
Molecular Function | GO:0004693 | cyclin-dependent protein serine/threonine kinase activity |
Molecular Function | GO:0004672 | protein kinase activity |
Molecular Function | GO:0019901 | protein kinase binding |
Molecular Function | GO:0106310 | protein serine kinase activity |
Cellular Component | GO:0005794 | Golgi apparatus |
Cellular Component | GO:0002945 | cyclin K-CDK13 complex |
Cellular Component | GO:0008024 | cyclin/CDK positive transcription elongation factor complex |
Cellular Component | GO:0005829 | cytosol |
Cellular Component | GO:0005576 | extracellular region |
Cellular Component | GO:0005615 | extracellular space |
Cellular Component | GO:1904813 | ficolin-1-rich granule lumen |
Cellular Component | GO:0019908 | nuclear cyclin-dependent protein kinase holoenzyme complex |
Cellular Component | GO:0016607 | nuclear speck |
Cellular Component | GO:0005654 | nucleoplasm |
Cellular Component | GO:0005634 | nucleus |
Reactome | Reactome Name | Node type | Reactome Root | Reactome Root Name |
---|---|---|---|---|
R-HSA-6796648 | TP53 Regulates Transcription of DNA Repair Genes | Leaf | R-HSA-74160 | Gene expression (Transcription) |
R-HSA-6798695 | Neutrophil degranulation | Leaf | R-HSA-168256 | Immune System |
Location | ECO term | Pubmed |
---|---|---|
Nucleus speckle | ECO:0000269 | PubMed:16721827 |
HPO ID | HPO name |
---|---|
HP:0000006 | Autosomal dominant inheritance |
HP:0000160 | Narrow mouth |
HP:0000200 | Short lingual frenulum |
HP:0000215 | Thick upper lip vermilion |
HP:0000219 | Thin upper lip vermilion |
HP:0000233 | Thin vermilion border |
HP:0000252 | Microcephaly |
HP:0000269 | Prominent occiput |
HP:0000286 | Epicanthus |
HP:0000316 | Hypertelorism |
HP:0000319 | Smooth philtrum |
HP:0000322 | Short philtrum |
HP:0000324 | Facial asymmetry |
HP:0000356 | Abnormality of the outer ear |
HP:0000358 | Posteriorly rotated ears |
HP:0000369 | Low-set ears |
HP:0000396 | Overfolded helix |
HP:0000414 | Bulbous nose |
HP:0000426 | Prominent nasal bridge |
HP:0000431 | Wide nasal bridge |
HP:0000486 | Strabismus |
HP:0000506 | Telecanthus |
HP:0000508 | Ptosis |
HP:0000574 | Thick eyebrow |
HP:0000581 | Blepharophimosis |
HP:0000582 | Upslanted palpebral fissure |
HP:0000691 | Microdontia |
HP:0000717 | Autism |
HP:0000750 | Delayed speech and language development |
HP:0001249 | Intellectual disability |
HP:0001250 | Seizure |
HP:0001252 | Hypotonia |
HP:0001263 | Global developmental delay |
HP:0001270 | Motor delay |
HP:0001274 | Agenesis of corpus callosum |
HP:0001357 | Plagiocephaly |
HP:0001382 | Joint hypermobility |
HP:0001511 | Intrauterine growth retardation |
HP:0001561 | Polyhydramnios |
HP:0001629 | Ventricular septal defect |
HP:0001631 | Atrial septal defect |
HP:0002019 | Constipation |
HP:0002020 | Gastroesophageal reflux |
HP:0002079 | Hypoplasia of the corpus callosum |
HP:0002121 | Generalized non-motor (absence) seizure |
HP:0002162 | Low posterior hairline |
HP:0002212 | Curly hair |
HP:0002472 | Small cerebral cortex |
HP:0002553 | Highly arched eyebrow |
HP:0002572 | Episodic vomiting |
HP:0002650 | Scoliosis |
HP:0002714 | Downturned corners of mouth |
HP:0003298 | Spina bifida occulta |
HP:0003577 | Congenital onset |
HP:0004322 | Short stature |
HP:0005989 | Redundant neck skin |
HP:0006610 | Wide intermamillary distance |
HP:0006970 | Periventricular leukomalacia |
HP:0007413 | Nevus flammeus of the forehead |
HP:0010536 | Central sleep apnea |
HP:0011856 | Pica |
HP:0011968 | Feeding difficulties |
HP:0012385 | Camptodactyly |
HP:0012745 | Short palpebral fissure |
HP:0025336 | Delayed ability to sit |
HP:0030084 | Clinodactyly |
HP:0031936 | Delayed ability to walk |
Disease name | MONDO ID | ICD10 | ICD10 chapter | OMIM | Orphanet |
---|---|---|---|---|---|
congenital heart defects- dysmorphic facial features- and intellectual developmental disorder | MONDO:0044302 | - | - | OMIM:617360 |