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4190 MDH1

4190

MDH1

malate dehydrogenase 1

protein-coding

Homo sapiens

基因描述

Type Description
Definition malate dehydrogenase 1

研究结论

Date Results Publications
2020-09-12 16:02:00 Evaluation of Human Cerebrospinal Fluid Malate Dehydrogenase 1 as a Marker in Genetic Prion Disease Patients. 31795176
2019-12-07 12:00:00 MDH1 deficiency is a new metabolic defect in the malate-aspartate shuttle and is associated with a severe neurodevelopmental phenotype. 31538237
2018-10-13 10:33:00 expression of miR-126-5p suppresses the enzymatic activity of MDH1, mitochondrial respiration and caused cell death in non-small cell lung carcinoma cell lines. 29574159
2017-11-25 14:10:00 Data show that in the endogenous readthrough of the human MDH1 stop codon, the stop codon can encode tryptophan and arginine, and is tissue-specific. 27881739
2017-09-23 10:33:00 Proliferating cells rely on both MDH1 and LDH to replenish cytosolic NAD. 28263970

名称对应

Type IDs
Synonymous HEL-S-32, MDH-s, MDHA, MGC:1375, MOR2
Gene
UniProtKB-ID: MDHC_HUMAN, V9HWF2_HUMAN, A0A5K1VW95_HUMAN
UniprotKB: P40925, V9HWF2, A0A5K1VW95
UniParc: UPI0000167B3E, UPI0001E92A3D, UPI0001B34A56, UPI00017A7F2C
EMBL: AK300719, AC016734, CH471053, BC001484, AK312331, EU794635, CR457405, AK295931, D55654, U20352
Ensembl: ENSG00000014641
KO: hsa:4190
Nucleutide sequences
EMBL-CDS: BAA09513.1, AAH01484.1, BAG62394.1, AAC16436.1, BAG35252.1, BAH12223.1, AAY14893.1, EAW99959.1, CAG33686.1, ACJ13689.1
Ensembl_TRS: ENST00000233114, ENST00000544381, ENST00000539945
Protein sequencees
Ensembl_PRO: ENSP00000233114, ENSP00000446395, ENSP00000438144
RefSeq: NP_005908.1, NP_001186041.1, NP_001186040.1, NP_001303303.1
Others
UniRef100: UniRef100_P40925
UniRef90: UniRef90_P40925
UniRef50: UniRef50_P40925
UniGene: Hs.526521
CCDS: CCDS56121.1, CCDS1874.1, CCDS56122.1

全选

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