CILK1
entrez
22858
canonical
uniprot
Q9UPZ9
canonical
ensembl
ENSG00000112144
resolver
ensp
ENSP00000263043
resolver
ensp
ENSP00000349458
resolver
ensp
ENSP00000501692
resolver
ensp
ENSP00000796594
resolver
ensp
ENSP00000796595
resolver
enst
ENST00000350082
resolver
genesymbol
CILK1
resolver
genesymbol_syn
ICK
resolver
genesymbol_syn
KIAA0936
resolver
hgnc
HGNC:21219
resolver
uniprot
A0A7I2PIU1
resolver
uniprot
A7MD41
resolver
uniprot
B3KQG4
resolver
uniprot
O75985
resolver
uniprot
Q5THL2
resolver
uniprot
Q8IYH8
resolver
uniprot
Q9BX17
resolver
uniprot
Q9NYX3
resolver
uniprot_entry
A0A7I2PIU1_HUMAN
resolver
uniprot_entry
B3KQG4_HUMAN
resolver
uniprot_entry
CILK1_HUMAN
resolver
uniprot_sec
A7MD41
resolver
uniprot_sec
O75985
resolver
uniprot_sec
Q5THL2
resolver
uniprot_sec
Q8IYH8
resolver
uniprot_sec
Q9BX17
resolver
uniprot_sec
Q9NYX3
resolver
amino_acid_sequence
MNRYTTIRQLGDGTYGSVLLGRSIESGELIAIKKMKRKFYSWEECMNLREVKSLKKLNHANVVKLKEVIRENDHLYFIFEYMKENLYQLIKERNKLFPESAIRNIMYQILQGLAFIHKHGFFHRDLKPENLLCMGPELVKIADFGLAREIRSKPPYTDYVSTRWYRAPEVLLRSTNYSSPIDVWAVGCIMAEVYTLRPLFPGASEIDTIFKICQVLGTPKKTDWPEGYQLSSAMNFRWPQCVPNNLKTLIPNASSEAVQLLRDMLQWDPKKRPTASQALRYPYFQVGHPLGSTTQNLQDSEKPQKGILEKAGPPPYIKPVPPAQPPAKPHTRISSRQHQASQPPLHLTYPYKAEVSRTDHPSHLQEDKPSPLLFPSLHNKHPQSKITAGLEHKNGEIKPKSRRRWGLISRSTKDSDDWADLDDLDFSPSLSRIDLKNKKRQSDDTLCRFESVLDLKPSEPVGTGNSAPTQTSYQRRDTPTLRSAAKQHYLKHSRYLPGISIRNGILSNPGKEFIPPNPWSSSGLSGKSSGTMSVISKVNSVGSSSTSSSGLTGNYVPSFLKKEIGSAMQRVHLAPIPDPSPGYSSLKAMRPHPGRPFFHTQPRSTPGLIPRPPAAQPVHGRTDWASKYASRR
uniprot
proteins
disease_involvement
DISEASE: Endocrine-cerebroosteodysplasia (ECO) [MIM:612651]: Previously unidentified neonatal lethal recessive disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems. {ECO:0000269|PubMed:19185282, ECO:0000269|PubMed:24797473, ECO:0000269|PubMed:24853502, ECO:0000269|PubMed:29539279}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Juvenile myoclonic epilepsy 10 (EJM10) [MIM:617924]: 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. {ECO:0000269|PubMed:29539279}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Cranioectodermal dysplasia 6 (CED6) [MIM:621337]: A form of cranioectodermal dysplasia, a disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. CED6 is an autosomal recessive form characterized by dolichocephaly, relative macrocephaly due to external hydrocephalus, dysmorphic facial features, growth retardation, skeletal anomalies, joint laxity, sparse hair, sparse eyebrows and eyelashes, and dental abnormalities. Renal and hepatic abnormalities have also been observed. {ECO:0000269|PubMed:40615527}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.11.1
uniprot
proteins
function
FUNCTION: Required for ciliogenesis (PubMed:24797473). Phosphorylates KIF3A (By similarity). Involved in the control of ciliary length (PubMed:24853502). Regulates the ciliary localization of SHH pathway components as well as the localization of IFT components at ciliary tips (By similarity). May play a key role in the development of multiple organ systems and particularly in cardiac development (By similarity). Regulates intraflagellar transport (IFT) speed and negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner and this regulation requires its kinase activity (By similarity). {ECO:0000250|UniProtKB:Q62726, ECO:0000250|UniProtKB:Q9JKV2, ECO:0000269|PubMed:24797473, ECO:0000269|PubMed:24853502}.
uniprot
proteins
mass_dalton
71427
uniprot
proteins
mutagenesis
MUTAGEN 33; /note="K->R: Loss of activity and autophosphorylation; when associated with R-34; R-36 and R-38."; /evidence="ECO:0000269|PubMed:10699974"; MUTAGEN 34; /note="K->R: Loss of activity and autophosphorylation; when associated with R-33; R-36 and R-38."; /evidence="ECO:0000269|PubMed:10699974"; MUTAGEN 36; /note="K->R: Loss of activity and autophosphorylation; when associated with R-33; R-34 and R-38."; /evidence="ECO:0000269|PubMed:10699974"; MUTAGEN 38; /note="K->R: Loss of activity and autophosphorylation; when associated with R-33; R-34 and R-36."; /evidence="ECO:0000269|PubMed:10699974"; MUTAGEN 157; /note="T->A: Reduction of activity and loss of autophosphorylation. Loss of activity and autophosphorylation; when associated with F-159."; /evidence="ECO:0000269|PubMed:10699974"; MUTAGEN 159; /note="Y->F: Reduction of activity and loss of autophosphorylation. Loss of activity and autophosphorylation; when associated with A-157."; /evidence="ECO:0000269|PubMed:10699974
uniprot
proteins
post_translational_modification
PTM: Autophosphorylated on serine and threonine residues. Phosphorylation at Thr-157 increases kinase activity. {ECO:0000269|PubMed:10699974}.
uniprot
proteins
protein_family
CDC2/CDKX subfamily
uniprot
proteins
protein_family
CMGC Ser/Thr protein kinase family
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
10231032
uniprot
proteins
pubmed
10699974
uniprot
proteins
pubmed
12103360
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15988018
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19185282
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
24797473
uniprot
proteins
pubmed
24853502
uniprot
proteins
pubmed
29539279
uniprot
proteins
pubmed
40615527
uniprot
proteins
sequence_length
632
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12103360, ECO:0000269|PubMed:19185282}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q62726}. Cell projection, cilium {ECO:0000269|PubMed:24797473}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q9JKV2}. Note=Also found at the ciliary tip (PubMed:24797473). Nuclear localization has been observed with a GFP-tagged construct in transfected HeLa cells (PubMed:12103360, PubMed:19185282). {ECO:0000269|PubMed:12103360, ECO:0000269|PubMed:19185282, ECO:0000269|PubMed:24797473}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:15988018}. Note=Predominant cytoplasmic localization has been observed with a N-terminally GFP-tagged construct. {ECO:0000269|PubMed:15988018}.
uniprot
proteins