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7051 TGM1

7051

TGM1

transglutaminase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition transglutaminase 1

研究结论

Date Results Publications
2021-03-20 13:22:00 LEKTI domains D6, D7 and D8+9 serve as substrates for transglutaminase 1: implications for targeted therapy of Netherton syndrome. 30801672
2020-10-24 14:01:00 Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population. 31073126
2020-09-12 16:06:00 Patients with congenital ichthyosis and TGM1 mutations overexpress other ARCI genes in the skin: Part of a barrier repair response? 30372788
2019-01-19 12:16:00 aberrant TGase 1 and TGase 3 localization and distribution are closely related to hyper-keratinization in Oral lichen planus. 30213231
2018-02-17 10:46:00 p.Ile140Met, p.Pro184Ser, p.Gly357Asp mutations pathogenic 26990434

名称对应

Type IDs
Synonymous ARCI1, ICR2, KTG, LI, LI1, TGASE, TGK
Gene
UniProtKB-ID: TGM1_HUMAN
UniprotKB: P22735
UniParc: UPI00017A8155, UPI000000164D
EMBL: X57974, M62925, DQ640500, BC034699, D10353, AK301652, M83227, AL096870, AK315843, M55183, CH471078, D90287, M83230, M86360, M83229, M83228, M98447
Ensembl: ENSG00000285348, ENSG00000092295
KO: hsa:7051
Nucleutide sequences
EMBL-CDS: AAA61156.1, EAW66047.1, AAA61166.1, AAA96667.1, ABF70204.1, BAF98734.1, AAH34699.1, BAA14329.1, BAA34203.1, CAA41040.1, AAA59474.1, BAG63129.1
Ensembl_TRS: ENST00000544573, ENST00000206765, ENST00000642845, ENST00000646057
Protein sequencees
Ensembl_PRO: ENSP00000206765, ENSP00000493587, ENSP00000496483, ENSP00000439446
RefSeq: NP_000350.1
Others
UniRef100: UniRef100_P22735
UniRef90: UniRef90_P22735
UniRef50: UniRef50_P22735
UniGene: Hs.508950
CCDS: CCDS9622.1

全选

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