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136332 LRGUK

136332

LRGUK

leucine rich repeats and guanylate kinase domain containing

protein-coding

Homo sapiens

基因描述

Type Description
Definition leucine rich repeats and guanylate kinase domain containing

研究结论

Date Results Publications
2020-03-21 12:31:00 The structure revealed that hGMPK consists of three distinct regions designated as the LID, GMP-binding (GMP-BD), and CORE domains and is in an open configuration that is nucleotide binding-competent. Nonsynonymous single-nucleotide variants of the hGMPK CORE domain distant from the nucleotide-binding site of this domain modulate enzymatic activity without significantly affecting hGMPK's structure. 31201273
2015-12-19 12:03:00 Study demonstrates that leucine-rich repeats and guanylate kinase-domain containing isoform 1 (LRGUK-1) is required for multiple aspects of sperm assembly, including acrosome attachment, sperm head shaping and the initiation of the axoneme growth to form the core of the sperm tail. 25781171
2010-06-30 22:05:00 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) 20379614
2008-06-04 21:30:00 Observational study of gene-disease association. (HuGE Navigator) 18498660

名称对应

Type IDs
Synonymous CFAP246
Gene
UniProtKB-ID: LRGUK_HUMAN
UniprotKB: Q96M69
UniParc: UPI0000072C76
EMBL: AK057348, BC104897, CH471070, CH236950, BC104899
Ensembl: ENSG00000155530
KO: hsa:136332
Nucleutide sequences
EMBL-CDS: AAI04898.1, EAW83807.1, BAB71441.1, EAL24072.1, AAI04900.1
Ensembl_TRS: ENST00000285928
Protein sequencees
Ensembl_PRO: ENSP00000285928
RefSeq: XP_024302426.1, XP_024302431.1, NP_001352630.1, NP_001352629.1, XP_024302427.1, XP_024302428.1, NP_653249.1, XP_024302430.1, XP_016867238.1, XP_024302429.1
Others
UniRef100: UniRef100_Q96M69
UniRef90: UniRef90_Q96M69
UniRef50: UniRef50_Q96M69
UniGene: Hs.149774
CCDS: CCDS5830.1

全选

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研究热度

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