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1103 CHAT

1103

CHAT

choline O-acetyltransferase

protein-coding

Homo sapiens

基因描述

Type Description
Definition choline O-acetyltransferase

研究结论

Date Results Publications
2019-04-20 10:58:00 The SNP rs3753841 in COL11A1, rs1258267 in CHAT and rs736893 in GLIS3 are associated with PACG in northern Chinese people, and the association of genetic markers manifests a tendency of ethnic diversity. Larger population-based studies are warranted to reveal additional primary angle-closure glaucoma loci and ethnic aspects of primary angle-closure glaucoma. 30399154
2019-02-23 10:53:00 CHAT SNP rs12246528 had the strongest association with parahippocampal structure, with the A allele being linked to smaller volume, surface area, and thickness. SNP rs1917814 had the strongest association with hippocampal volume, with the T allele being linked to larger hippocampal volume. CHAT rs3729496 had the strongest association with memory span, with the T allele being associated with a greater memory span. 29170094
2019-01-19 10:49:00 CHAT may contribute to Tourette syndrome susceptibility in the Han Chinese population. 28090804
2018-10-27 11:14:00 the AA genotype of CHAT was associated with a 1.25 times higher risk of Alzheimer's disease (AD) thus demonstrating that the rs3810950 polymorphism can have a modest but statistically significant effect on the risk of AD in the Czech population 29759072
2017-07-22 11:37:00 Compared with the control group, the densitometric quantification and mean density of GPR43 and ChAT proteins, and expression of GPR43 and CHAT genes, were significantly decreased in the patients with mixed refractory constipation. 26921846

名称对应

Type IDs
Synonymous CHOACTASE, CMS1A, CMS1A2, CMS6
Gene
UniProtKB-ID: CLAT_HUMAN, D3DX95_HUMAN, Q6LEN6_HUMAN, Q6LEN5_HUMAN
UniprotKB: P28329, D3DX95, Q6LEN6, Q6LEN5
UniParc: UPI0000000374, UPI0000000373, UPI00003666BC, UPI000013F1B9, UPI000013D6A3, UPI000002A69E
EMBL: X56879, AF305900, AF305899, AF305903, CH471187, X56585, S56138, AF305895, AC073366, AF305909, AF305894, BC130617, D82341, AF305908, AF305901, AF305896, S45018, D82342, AF305907, AF305898, AF305906, D82339, D82340, AF305897, AF305905, AF305902, AF305904, BC130615
Ensembl: ENSG00000070748
KO: hsa:1103
Nucleutide sequences
EMBL-CDS: AAK08951.1, CAA40201.1, AAA14245.1, AAK08953.1, AAK08954.1, AAI30616.1, CAA39923.1, EAW93086.1, AAK08955.1, AAB23557.2, AAI30618.1, AAK08952.1, AAK08950.1, EAW93092.1, EAW93090.1, EAW93089.1, BAA18944.1, BAA18946.1, BAA18945.1, BAA18943.1
Gene_ORFName: hCG_1996663
Ensembl_TRS: ENST00000351556, ENST00000395562, ENST00000339797, ENST00000337653, ENST00000395559
Protein sequencees
Ensembl_PRO: ENSP00000378926, ENSP00000345878, ENSP00000337103, ENSP00000378929, ENSP00000343486
RefSeq: NP_001136406.2, NP_001136405.2, NP_066264.4, NP_066266.4, NP_001136401.2, NP_066265.4, NP_065574.4
Others
UniRef100: UniRef100_P28329, UniRef100_G3RGQ8, UniRef100_D3DX95
UniRef90: UniRef90_P28329
UniRef50: UniRef50_P28329
UniGene: Hs.302002
CCDS: CCDS7232.1, CCDS7233.1, CCDS44389.1

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