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3758 KCNJ1

3758

KCNJ1

potassium voltage-gated channel subfamily J member 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition potassium voltage-gated channel subfamily J member 1

研究结论

Date Results Publications
2020-04-04 11:37:00 Single-Channel Properties of the ROMK-Pore-Forming Subunit of the Mitochondrial ATP-Sensitive 31731540
2019-01-12 11:59:00 endosomal trafficking factors CORVET and ESCRT suppress plasma membrane residence of the renal outer medullary potassium channel 29311259
2018-08-25 10:41:00 We replicated the methods in a previous study to detect rare and potentially loss-of-function variants in SLC12A3, SLC12A1, and KCNJ1 reducing blood pressure in variant carriers as compared with noncarriers using whole exome sequencing data. Our study confirmed that SLC12A3, SLC12A1, and KCNJ1 are indeed genes protective of hypertension in the general population. 30113482
2018-07-14 11:04:00 The presence of ROMK protein was observed in the inner mitochondrial membrane fraction. Moreover, colocalization of the ROMK protein and a mitochondrial marker in the mitochondria of fibroblast cells was shown by immunofluorescence. 29458000
2017-08-26 11:05:00 Data suggest underlying pathology for some patients with type II Bartter syndrome is linked to stability of ROMK1 in ERAD pathway; using a yeast expression system, cells can be rescued by wild-type (rat) ROMK1 but not by ROMK1 containing any one of four mutations found in (human) type II Bartter syndrome; mutant ROMKs are significantly less stable than wild-type ROMK. (ERAD = endoplasmic reticulum-associated degradation) 28630040

名称对应

Type IDs
Synonymous KIR1.1, ROMK, ROMK1
Gene
UniProtKB-ID: KCNJ1_HUMAN, A0A024R3K6_HUMAN, A8K432_HUMAN
UniprotKB: P48048, A0A024R3K6, A8K432
UniParc: UPI00015DA60E, UPI000002AC0A, UPI000002AC09, UPI000012D891
EMBL: U12545, CH471065, U12544, U65406, U12541, AK290797, U03884, S78737, U12543, BC136361, U12542, BC074752, BC136360
Ensembl: ENSG00000151704
KO: hsa:3758
Nucleutide sequences
EMBL-CDS: AAA61713.1, AAB35012.1, AAI36361.1, AAA20594.1, AAC51221.1, AAH74752.1, AAA61716.1, AAC51220.1, EAW67724.1, AAC51222.1, AAA61714.1, AAI36362.1, AAA61715.1, AAA61712.1, EAW67721.1, EAW67722.1, EAW67723.1, BAF83486.1
Gene_ORFName: hCG_1640313
Ensembl_TRS: ENST00000392664, ENST00000440599, ENST00000392666, ENST00000392665, ENST00000324036
Protein sequencees
Ensembl_PRO: ENSP00000406320, ENSP00000376433, ENSP00000376434, ENSP00000376432, ENSP00000316233
RefSeq: NP_722451.1, NP_722448.1, NP_722450.1, NP_722449.3, NP_000211.1
Others
UniRef100: UniRef100_A8K432, UniRef100_P48048
UniRef90: UniRef90_P48048
UniRef50: UniRef50_P48048
UniGene: Hs.527830
CCDS: CCDS8476.1, CCDS8477.1

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