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4308 TRPM1

4308

TRPM1

transient receptor potential cation channel subfamily M member 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition transient receptor potential cation channel subfamily M member 1

研究结论

Date Results Publications
2021-02-02 13:24:00 Genetic polymorphisms of transient receptor potential melastatin 1 correlate with voriconazole-related visual adverse events. 32222082
2021-02-02 13:22:00 TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations. 31427709
2020-11-21 13:34:00 A case of melanoma-associated retinopathy with autoantibodies against TRPM1. 32472235
2020-06-20 12:32:00 A novel homozygous c.1394T>A (p.Met465Lys) missense mutation in TRPM1 was identified in two siblings. 31908403
2019-09-14 12:32:00 TRPM1-associated cCSNB is a channelopathy that may present without complaints of night blindness in childhood. 29522070

名称对应

Type IDs
Synonymous CSNB1C, LTRPC1, MLSN1
Gene
UniProtKB-ID: TRPM1_HUMAN
UniprotKB: Q7Z4N2
UniParc: UPI0000167B15, UPI0002064DE4, UPI00001FE144, UPI0001DBB3A9, UPI00001FE13E, UPI00001FE143, UPI000170BA6B
EMBL: HM135791, BC058286, AB115499, AB115502, HM135790, AC009562, AB115501, AB115500, CH471216, AF071787, AC090829, AB115498
Ensembl: ENSG00000134160
KO: hsa:4308
Nucleutide sequences
EMBL-CDS: BAC80204.1, ADJ52077.1, ADJ52078.1, EAW61261.1, AAC80000.1, BAC80201.1, BAC80202.1, BAC80203.1, BAC80200.1, AAH58286.1
Ensembl_TRS: ENST00000256552, ENST00000559179, ENST00000542188, ENST00000560658, ENST00000397795
Protein sequencees
Ensembl_PRO: ENSP00000437849, ENSP00000454077, ENSP00000256552, ENSP00000380897, ENSP00000453851
RefSeq: NP_001238953.1, NP_001238949.1, NP_001238959.1, NP_002411.3
Others
UniRef100: UniRef100_Q7Z4N2
UniRef90: UniRef90_Q7Z4N2
UniRef50: UniRef50_Q7Z4N2
UniGene: Hs.155942, Hs.732541
CCDS: CCDS10024.2, CCDS58346.1, CCDS58345.1, CCDS58347.1

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