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22858 ICK

22858

ICK

intestinal cell kinase

protein-coding

Homo sapiens

基因描述

Type Description
Definition intestinal cell kinase

研究结论

Date Results Publications
2021-03-13 13:26:00 Functional Alterations in Ciliogenesis-Associated Kinase 1 (CILK1) that Result from Mutations Linked to Juvenile Myoclonic Epilepsy. 32178256
2021-02-02 13:27:00 Anterograde trafficking of ciliary MAP kinase-like ICK/CILK1 by the intraflagellar transport machinery is required for intraciliary retrograde protein trafficking. 32732286
2020-06-20 12:47:00 Previously known as intestinal cell kinase because it was cloned from that origin, CILK1 is now recognized as a widely expressed and highly conserved. Mutations in the human CILK1 gene have been associated with ciliopathies. Thus, CILK1 has a fundamental role in the function of the cilium. Several candidate substrates have been proposed for CILK1. [review] 31506943
2020-01-04 11:31:00 Study demonstrates that human ICK (intestinal cell kinase) that authors herein call CAPK (ciliopathy-associated protein kinase) interacts with human KIF3A and phosphorylates a conserved site Thr672 both in vitro and in vivo. Long, unstructured, non-catalytic carboxyl-terminal domain (CTD) of CAPK is required for this interaction with and phosphorylation of KIF3A. 31277411
2018-03-24 10:35:00 Our data provide evidence that heterozygous variants in ICK caused juvenile myoclonic epilepsy in 7% of the patients included in our analysis. Variant ICK affects cell processes that help explain microdysgenesis and polyspike networks observed on EEG in juvenile myoclonic epilepsy. 29539279

名称对应

Type IDs
Synonymous ECO, EJM10, LCK2, MRK
Gene
UniProtKB-ID: CILK1_HUMAN, A0A024RD59_HUMAN, B3KQG4_HUMAN
UniprotKB: Q9UPZ9, A0A024RD59, B3KQG4
UniParc: UPI0000073DE8, UPI0000074253, UPI000015D961
EMBL: AB023153, BC136420, AL031178, BC152464, AK074892, BC035807, BC136421, AL162581, AF152469, CH471081, AF225919
Ensembl: ENSG00000112144
KO: hsa:22858
Nucleutide sequences
EMBL-CDS: AAG43364.1, AAH35807.1, EAX04400.1, AAI36421.1, BAA76780.2, AAI36422.1, AAF37278.1, AAI52465.1, EAX04404.1, EAX04403.1, EAX04402.1, BAG52026.1
Gene_ORFName: hCG_20817
Ensembl_TRS: ENST00000356971, ENST00000350082
Protein sequencees
Ensembl_PRO: ENSP00000349458, ENSP00000263043
RefSeq: NP_001362326.1, XP_011512723.1, NP_001362330.1, NP_001362329.1, NP_055735.1, XP_016865976.1, XP_011512722.1, NP_001362327.1, XP_016865974.1, NP_001362331.1, NP_001362328.1, XP_016865975.1, NP_057597.2
Others
UniRef100: UniRef100_B3KQG4, UniRef100_Q9UPZ9
UniRef90: UniRef90_Q9UPZ9
UniRef50: UniRef50_Q9UPZ9
UniGene: Hs.417022
CCDS: CCDS4949.1

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