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549 AUH

549

AUH

AU RNA binding methylglutaconyl-CoA hydratase

protein-coding

Homo sapiens

基因描述

Type Description
Definition AU RNA binding methylglutaconyl-CoA hydratase

研究结论

Date Results Publications
2014-07-19 10:18:00 AUH localizes to the inner mitochondrial membrane and matrix where it associates with mitochondrial ribosomes and regulates protein synthesis. 24598254
2012-03-03 11:15:00 Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel deletion of exons 1-3 within the AUH gene. 21840233
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-01-21 00:00:00 The AUH trimer dimerizes upon binding to one molecule of a long RNA containing 24 repeats of the AUUU motif, (AUUU)(24)A. 18831052
2010-01-21 00:00:00 Mutations in the AUH gene are linked to metabolic disease 3-methylglutaconic aciduria type I (MGA1). 16640564

名称对应

Type IDs
Gene
UniProtKB-ID: AUHM_HUMAN, B4DYI6_HUMAN
UniprotKB: Q13825, B4DYI6
UniParc: UPI00017A8024, UPI0000072582, UPI0000072F64
EMBL: AL513353, AK302453, BC020722, X79888, AL158071, CH471089, AL353645
Ensembl: ENSG00000148090
KO: hsa:549
Nucleutide sequences
EMBL-CDS: AAH20722.1, EAW62794.1, EAW62795.1, CAA56260.1, BAG63748.1
Ensembl_TRS: ENST00000375731, ENST00000303617
Protein sequencees
Ensembl_PRO: ENSP00000364883, ENSP00000307334
RefSeq: XP_016870338.1, NP_001338361.1, XP_006717213.1, NP_001338360.1, XP_005252129.1, XP_011517102.1, XP_005252126.1, NP_001338362.1, XP_005252124.1, NP_001689.1, XP_011517105.1, NP_001293119.1, XP_005252123.1
Others
UniRef100: UniRef100_B4DYI6, UniRef100_Q13825
UniRef90: UniRef90_A0A5F8A2R7, UniRef90_Q13825
UniRef50: UniRef50_Q13825, UniRef50_E0VTA6
UniGene: Hs.175905
CCDS: CCDS6689.1, CCDS78409.1

全选

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