Entity Details

Primary name CILK1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9UPZ9
EntryNameCILK1_HUMAN
FullNameSerine/threonine-protein kinase ICK
TaxID9606
Evidenceevidence at protein level
Length632
SequenceStatuscomplete
DateCreated2004-06-07
DateModified2021-06-02

Ontological Relatives

GenesCILK1

GO terms

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GOName
GO:0000287 magnesium ion binding
GO:0001650 fibrillar center
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0005524 ATP binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005929 cilium
GO:0006468 protein phosphorylation
GO:0007165 signal transduction
GO:0007275 multicellular organism development
GO:0035556 intracellular signal transduction
GO:0035720 intraciliary anterograde transport
GO:0035721 intraciliary retrograde transport
GO:0036064 ciliary basal body
GO:0042073 intraciliary transport
GO:0060271 cilium assembly
GO:0097542 ciliary tip
GO:0097546 ciliary base
GO:0106310 protein serine kinase activity
GO:0106311 protein threonine kinase activity

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm
Nucleus

Domains

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DomainNameCategoryType
IPR000719 Protein kinase domainDomainDomain
IPR008271 Serine/threonine-protein kinase, active siteSiteActive site
IPR011009 Protein kinase-like domain superfamilyFamilyHomologous superfamily
IPR017441 Protein kinase, ATP binding siteSiteBinding site

Diseases

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Disease IDSourceNameDescription
612651 OMIMEndocrine-cerebroosteodysplasia (ECO)Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. The disease is caused by variants affecting the gene represented in this entry.
617924 OMIMJuvenile myoclonic epilepsy 10 (EJM10)A form of juvenile myoclonic epilepsy, a subtype of idiopathic generalized epilepsy generally characterized by afebrile seizures with onset in adolescence (rather than in childhood) and myoclonic jerks, which usually occur after awakening and are triggered by sleep deprivation and fatigue. EJM10 is an autosomal dominant seizure disorder with variable manifestations, even within families. Affected individuals have febrile, myoclonic, tonic-clonic, or absence seizures, although several seizure types can occur in the same individual. Some patients have onset of seizures in the first years of life. The disease is caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB12010 FostamatinibDrugbanksmall molecule