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11133 KPTN

11133

KPTN

kaptin, actin binding protein

protein-coding

Homo sapiens

基因描述

Type Description
Definition kaptin, actin binding protein

研究结论

Date Results Publications
2017-08-19 10:14:00 identification of a protein complex (KICSTOR) that is composed of four proteins, KPTN, ITFG2, C12orf66 and SZT2, and that is required for amino acid or glucose deprivation to inhibit mTORC1 in cultured human cells 28199306
2014-03-01 10:09:00 We have demonstrated that mutations in KPTN, encoding kaptin, cause a syndrome typified by macrocephaly, neurodevelopmental delay, and seizures. 24239382

名称对应

Type IDs
Synonymous 2E4, MRT41
Gene
UniProtKB-ID: KPTN_HUMAN, A0A384NLB4_HUMAN
UniprotKB: Q9Y664, A0A384NLB4
UniParc: UPI00017A7948, UPI000007002E
EMBL: AK023996, CH471126, BC009249, AC073548, AF243529, GQ901026, AK298672, AF105369
Ensembl: ENSG00000118162
KO: hsa:11133
Nucleutide sequences
EMBL-CDS: AAH09249.1, AAF98790.1, BAG51248.1, EAW57487.1, BAG60838.1, AAD39358.1, ADO22543.1
Ensembl_TRS: ENST00000338134
Protein sequencees
Ensembl_PRO: ENSP00000337850
RefSeq: NP_001278225.1, XP_016881715.1, XP_016881717.1, XP_024307101.1, NP_008990.2, XP_016881718.1, XP_016881716.1
Others
UniRef100: UniRef100_Q9Y664
UniRef90: UniRef90_Q9Y664
UniRef50: UniRef50_Q9Y664
UniGene: Hs.25441
CCDS: CCDS42583.1

全选

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研究热度

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