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8506 CNTNAP1

8506

CNTNAP1

contactin associated protein 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition contactin associated protein 1

研究结论

Date Results Publications
2019-10-19 12:11:00 These results demonstrate that CASPR1 binds with ATP1B3 and thereby contributes to the regulation of Na(+)/K(+)-ATPase maturation and trafficking to the plasma membrane in brain microvascular endothelial cells. 30792309
2019-02-23 10:39:00 We identified 9 novel CNTNAP1 variants in 6 families: three missense variants, four nonsense variants, one frameshift variant and one splice site variant. Significant polyhydramnios occurred in 6/7 pregnancies 29511323
2018-12-29 11:22:00 E. coli exploits Caspr1 as a host receptor for penetration of the blood-brain barrier, resulting in meningitis 29895952
2017-07-29 12:55:00 In two brothers with severe congenital hypotonia and foot deformities, we identified compound heterozygous variants in CNTNAP1, reporting the first causative missense variant, p.(Cys323Arg). Motor nerve conductions were markedly decreased. 27782105
2017-06-24 10:53:00 CNTNAP1 mutations were found to induce characteristic ultrastructural lesions of the paranodal region. 27818385

名称对应

Type IDs
Synonymous CASPR, CHN3, CNTNAP, NRXN4, P190
Gene
UniProtKB-ID: CNTP1_HUMAN
UniprotKB: P78357
UniParc: UPI00001285F6
EMBL: U87223
Ensembl: ENSG00000108797
KO: hsa:8506
Nucleutide sequences
EMBL-CDS: AAB48481.1
Ensembl_TRS: ENST00000264638
Protein sequencees
Ensembl_PRO: ENSP00000264638
RefSeq: NP_003623.1, XP_005257805.1, XP_016880727.1, XP_024306779.1
Others
UniRef100: UniRef100_P78357
UniRef90: UniRef90_P78357
UniRef50: UniRef50_P78357
UniGene: Hs.408730
CCDS: CCDS11436.1

全选

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研究热度

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