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22871 NLGN1

22871

NLGN1

neuroligin 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition neuroligin 1

研究结论

Date Results Publications
2020-10-03 12:56:00 Synaptic Kalirin-7 and Trio Interactomes Reveal a GEF Protein-Dependent Neuroligin-1 Mechanism of Action. 31801062
2020-09-26 13:04:00 Enriched Microdomains Provide a Platform for Dendritic Spine Maturation through Neuroligin-1 Clustering. 31665629
2020-04-04 11:13:00 we propose that this homozygous variant in NLGN1 can be the cause of the ASD/ID of these brothers although functional studies and/or model systems will be necessary to provide evidence for its pathogenicity. 30460678
2017-11-26 00:05:00 Findings support a contribution of the NLGN1 gene pathway to the neurobiological underpinnings of PTSD. 27219346
2017-09-16 11:19:00 We show that a novel NLGN1 Pro89Leu (P89L) missense variant found in two autism spectrum disorder (ASD) siblings leads to changes in cellular localization, protein degradation, and to the impairment of spine formation. Furthermore, we generated the knock-in P89L mice, and we show that the P89L heterozygote mice display abnormal social behavior, a core feature of ASD 28841651

名称对应

Type IDs
Synonymous NL1
Gene
UniProtKB-ID: NLGN1_HUMAN
UniprotKB: Q8N2Q7
UniParc: UPI0001C23308, UPI0000072F54
EMBL: AC008120, AK074522, BC032555, AB028993, GQ489206, AC008082, AC092923, AC110871, AC092967, AC131158
Ensembl: ENSG00000169760
KO: hsa:22871
Nucleutide sequences
EMBL-CDS: ADB12633.1, AAH32555.1, BAA83022.2, BAC11039.1
Ensembl_TRS: ENST00000457714, ENST00000361589
Protein sequencees
Ensembl_PRO: ENSP00000354541, ENSP00000392500
RefSeq: XP_011510855.1, NP_001352861.1, NP_001352856.1, XP_016861382.1, XP_016861391.1, XP_016861389.1, XP_011510856.1, XP_016861385.1, NP_001352855.1, NP_001352852.1, NP_001352853.1, NP_001352857.1, NP_001352854.1, XP_016861386.1, XP_011510853.1, NP_001352863.1, NP_055747.1, NP_001352859.1, NP_001352858.1, XP_005247294.1, XP_016861377.1, NP_001352862.1, XP_016861383.1, XP_016861384.1, NP_001352860.1, NP_001352864.1, NP_001352865.1
Others
UniRef100: UniRef100_Q8N2Q7
UniRef90: UniRef90_Q62765
UniRef50: UniRef50_Q62765
UniGene: Hs.478289
CCDS: CCDS3222.1

全选

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