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50944 SHANK1

50944

SHANK1

SH3 and multiple ankyrin repeat domains 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition SH3 and multiple ankyrin repeat domains 1

研究结论

Date Results Publications
2020-04-18 10:12:00 SH3 and multiple ankyrin repeat domains protein (SHANK) family includes the three multidomain structural proteins (SHANK1, SHANK2, and SHANK3) that enrich in excitatory glutamatergic synapses in mammalian brain. 30629339
2018-12-01 12:24:00 Authors summarize and discuss behavioral and neuronal findings obtained in the Shank1 knockout mouse model for Autism spectrum disorder (ASD); identify open research questions by comparing such findings with the symptoms present in humans diagnosed with ASD and carrying SHANK1 deletions; conclude by discussing the implications of the behavioral and neuronal phenotypes displayed by the Shank1 knockout mouse model. 28963042
2017-06-24 10:57:00 SHANK1 and SHANK3 act as integrin activation inhibitors by sequestering active Rap1 and R-Ras via the SPN domain and thus limiting their bioavailability at the plasma membrane. 28263956
2015-10-31 10:53:00 Data show that the Shank1 protein mRNA adopts two very stable intramolecular G-quadruplexes which are bound specifically and with high affinity by X mental retardation protein (FMRP). 25692235
2015-01-10 13:35:00 a non-canonical initiation site is required for efficient translation of the dendritically localized Shank1 mRNA 24533096

名称对应

Type IDs
Synonymous SPANK-1, SSTRIP, synamon
Gene
UniProtKB-ID: SHAN1_HUMAN, H9KV90_HUMAN
UniprotKB: Q9Y566, H9KV90
UniParc: UPI000013E109, UPI000059D76D, UPI0000202A3B, UPI0000E5A22E
EMBL: AF163302, AC010325, AC008743, AF226728
Ensembl: ENSG00000161681
KO: hsa:50944
Nucleutide sequences
EMBL-CDS: AAD45121.1, AAF35887.1
Ensembl_TRS: ENST00000391813, ENST00000359082, ENST00000293441, ENST00000391814
Protein sequencees
Ensembl_PRO: ENSP00000351984, ENSP00000293441, ENSP00000375689, ENSP00000375690
RefSeq: NP_057232.2, XP_011525316.1, XP_011525315.1
Others
UniRef100: UniRef100_H9KV90, UniRef100_Q9Y566
UniRef90: UniRef90_Q9Y566
UniRef50: UniRef50_Q9WV48
UniGene: Hs.274255
CCDS: CCDS12799.1

全选

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