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55621 TRMT1

55621

TRMT1

tRNA methyltransferase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition tRNA methyltransferase 1

研究结论

Date Results Publications
2019-10-19 11:15:00 mutations in the methyltransferase TRMT1 lead to a microcephalic phenotype and isolated inferior vermian hypoplasia 30289604
2017-10-28 10:45:00 Results uncover a biological role for TRMT1-catalyzed tRNA modification in redox metabolism and show that individuals with TRMT1-associated ID are likely to have major perturbations in cellular homeostasis due to the lack of m2,2G modifications. 28784718
2016-05-21 12:44:00 a missense variant was found in GRM1 gene, while in the second family, a frameshift alteration was identified in TRMT1, both of which were found to co-segregate with the intellectual disability. 26308914

名称对应

Type IDs
Synonymous MRT68, TRM1
Gene
UniProtKB-ID: TRM1_HUMAN, A0A024R7I5_HUMAN
UniprotKB: Q9NXH9, A0A024R7I5
UniParc: UPI000007353F, UPI0000000A02
EMBL: BC040126, AF196479, BC002492, AC005546, AK000251, BC018302, CH471106
Ensembl: ENSG00000104907
KO: hsa:55621
Nucleutide sequences
EMBL-CDS: BAA91031.1, AAG28495.1, AAH02492.1, AAH18302.1, AAH40126.1, AAC33150.1, EAW84350.1, EAW84347.1
Gene_ORFName: hCG_27765
Ensembl_TRS: ENST00000592062, ENST00000357720, ENST00000437766, ENST00000221504
Protein sequencees
Ensembl_PRO: ENSP00000416149, ENSP00000350352, ENSP00000466967, ENSP00000221504
RefSeq: NP_001338690.1, NP_001136026.1, NP_001129507.1, NP_001338691.1, NP_060192.1, NP_001338689.1
Others
UniRef100: UniRef100_Q9NXH9
UniRef90: UniRef90_Q9NXH9
UniRef50: UniRef50_Q9NXH9
UniGene: Hs.515169
CCDS: CCDS12293.1, CCDS45997.1

全选

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