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64114 TMBIM1

64114

TMBIM1

transmembrane BAX inhibitor motif containing 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition transmembrane BAX inhibitor motif containing 1

研究结论

Date Results Publications
2020-05-02 10:50:00 TMBIMTMBIMTMBIMTMBIMTMBIM 30930064
2020-04-25 11:58:00 We aimed to replicate the association of rs992157 with CRC in the Chinese population and to further determine the real susceptible gene of CRC as indicated by this variant. Variant rs992157 is significantly associated with the susceptibility and progression of colorectal cancer. It can increase the risk of CRC possibly via up-regulation of TMBIM1. 30447906
2017-09-30 13:51:00 The combined analysis identified a new risk association for colorectal cancer (CRC) at 2q35 marked by rs992157 which is intronic to PNKD and TMBIM1.Intriguingly this susceptibility single-nucleotide polymorphism (SNP) is in strong linkage disequilibrium (r(2) = 0.90, D' = 0.96) with the previously discovered GWAS SNP rs2382817 for inflammatory bowel disease (IBD). 27005424
2017-09-02 12:23:00 TMBIM1 is an effective suppressor of steatohepatitis and a previously unknown regulator of the multivesicular body (MVB)-lysosomal pathway. 28481357
2015-10-03 11:37:00 These results suggest that the TMBIM family has comparable functions in the maintenance of intracellular Ca(2) homeostasis in a wide variety of tissues 25764978

名称对应

Type IDs
Synonymous LFG3, MST100, MSTP100, PP1201, RECS1
Gene
UniProtKB-ID: LFG3_HUMAN, A0A024R472_HUMAN, B4DUD2_HUMAN, B3KSM0_HUMAN
UniprotKB: Q969X1, A0A024R472, B4DUD2, B3KSM0
UniParc: UPI00017A7E1A, UPI000007073C, UPI000003B0CD
EMBL: AK298500, AK075465, BC026693, AK027755, AK090618, AK093911, CH471063, BC007980, AC021016, BC026348, AF193045, AK300597, AK095270, BC013428
Ensembl: ENSG00000135926
KO: hsa:64114
Nucleutide sequences
EMBL-CDS: BAG52198.1, AAH13428.1, AAH26348.1, BAB55346.1, AAG22473.1, AAH07980.1, AAH26693.1, EAW70607.1, BAC11636.1, BAC04516.1, EAW70609.1, BAG62294.1, BAG52782.1, BAG60707.1
Gene_ORFName: PP1201, PSEC0158, hCG_16300
Ensembl_TRS: ENST00000258412, ENST00000396809, ENST00000444881, ENST00000437694, ENST00000445635
Protein sequencees
Ensembl_PRO: ENSP00000380025, ENSP00000409738, ENSP00000258412, ENSP00000404709, ENSP00000401491
RefSeq: NP_001308357.1, NP_001308364.1, NP_001308361.1, NP_001308356.1, NP_001308359.1, NP_001308365.1, NP_001308358.1, NP_001308362.1, NP_071435.2, NP_001308367.1, XP_011509929.1
Others
UniRef100: UniRef100_Q969X1, UniRef100_B4DUD2
UniRef90: UniRef90_Q969X1, UniRef90_B4DUD2
UniRef50: UniRef50_Q969X1, UniRef50_B4DUD2
UniGene: Hs.591605
CCDS: CCDS2412.1

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