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201163 FLCN

201163

FLCN

folliculin

protein-coding

Homo sapiens

基因描述

Type Description
Definition folliculin

研究结论

Date Results Publications
2021-01-09 13:34:00 Blood and lymphatic systems are segregated by the FLCN tumor suppressor. 33298956
2021-01-09 13:33:00 Folliculin variants linked to Birt-Hogg-Dube syndrome are targeted for proteasomal degradation. 33137092
2020-09-05 13:57:00 FLCN alteration drives metabolic reprogramming towards nucleotide synthesis and cyst formation in salivary gland. 31806376
2020-06-20 11:27:00 Results found that a heterozygous mutation in exon 11 of FLCN c. 1273C>T (p.Gln425Ter), which was identified for the first time, might cause isolated familial spontaneous pneumothorax. 31625278
2020-05-23 11:28:00 structure of the lysosomal FLCN complex (LFC) reveals how FLCN and FNIP2 assemble into one complex by means of an intricate domain arrangement, as well as how they interact with the G domains of the Rag GTPases in their inactive state 31672913

名称对应

Type IDs
Synonymous BHD, FLCL
Gene
UniProtKB-ID: FLCN_HUMAN, A0A0S2Z5Y7_HUMAN
UniprotKB: Q8NFG4, A0A0S2Z5Y7
UniParc: UPI00001C0D54, UPI0000073F8F, UPI0000071D7A
EMBL: AF517523, BC015687, CH471196, BC015725, AC055811, AK126951, AK127912, KU178888
Ensembl: ENSG00000154803
KO: hsa:201163
Nucleutide sequences
EMBL-CDS: BAC86760.1, AAM94803.1, BAC87186.1, AAH15725.2, EAW55716.1, AAH15687.1, EAW55715.1, ALQ34346.1
Gene_ORFName: hCG_1775424
Ensembl_TRS: ENST00000389169, ENST00000285071
Protein sequencees
Ensembl_PRO: ENSP00000373821, ENSP00000285071
RefSeq: XP_011522023.1, XP_011522016.1, NP_659434.2, XP_016879794.1, NP_001340158.1, XP_011522021.1, XP_016879798.1, NP_001340159.1, XP_016879797.1, XP_011522020.1, XP_024306403.1, NP_001340160.1, NP_653207.1
Others
UniRef100: UniRef100_Q8NFG4, UniRef100_Q8NFG4-2
UniRef90: UniRef90_Q8NFG4, UniRef90_Q8NFG4-2
UniRef50: UniRef50_Q8NFG4, UniRef50_Q8NFG4-2
UniGene: Hs.31652
CCDS: CCDS32579.1, CCDS32580.1

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