Type | Description |
---|---|
Definition | contactin associated protein 1 |
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 |
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
|
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Refseq |
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