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4358 MPV17

4358

MPV17

mitochondrial inner membrane protein MPV17

protein-coding

Homo sapiens

基因描述

Type Description
Definition mitochondrial inner membrane protein MPV17

研究结论

Date Results Publications
2020-07-25 10:42:00 this study demonstrates that MPV17 does not control neither cell proliferation nor mtDNA content in cancer cells. 32155188
2020-02-15 12:28:00 This report provides further evidence that MPV17 mutations should be considered in patients with pure, non-syndromic axonal neuropathy. 30298599
2019-09-28 12:40:00 Exome sequencing identified homozygosity for a c.106C>T nonsense variant in exon 3 of the human MPV17 gene in 2 unrelated index patients. mRNA analysis revealed transcripts both with and without exon 3, indicating both reduced splice efficiency and premature termination as mechanisms for disease. 29318572
2019-04-13 10:44:00 Depressed MPV17 expression reduced mitochondrial folate levels by 43% and increased uracil levels, a marker of impaired dTMP synthesis, in mtDNA by 3-fold. 30385507
2018-06-23 11:06:00 The authors describe an 11 year old girl, born to consanguineous parents, who presented with rapidly progressive MPV17 hepatocerebral mitochondrial DNA depletion syndrome. Genetic analysis of the patient revealed a homozygous pathogenic mutation c.121C>T (p.R41W) in the MPV17 gene. 28673863

名称对应

Type IDs
Synonymous MTDPS6, SYM1
Gene
UniProtKB-ID: MPV17_HUMAN, A0A0S2Z3Z9_HUMAN
UniprotKB: P39210, A0A0S2Z3Z9
UniParc: UPI000012F4BD
EMBL: HQ206001, AC013413, HQ206006, HQ206015, S68419, CH471053, HQ206023, HQ206008, HQ206013, HQ205988, S68418, HQ205999, X76538, HQ206017, HQ206010, HQ205997, HQ206011, HQ206019, S68421, HQ205993, HQ205986, HQ205991, HQ206002, HQ205989, HQ205995, HQ206016, S68430, HQ206009, HQ206021, HQ206004, HQ206005, HQ205998, HQ206022, HQ206012, KU178195, BC001115, BC016289, HQ205990, S68420, HQ206025, HQ206024, HQ205992, HQ206020, HQ206007, HQ205996, HQ206014, HQ205994, S68417, S68422, HQ206003, HQ206000, HQ205987, HQ206018
Ensembl: ENSG00000115204
KO: hsa:4358
Nucleutide sequences
EMBL-CDS: ADP91864.1, ADP91871.1, ADP91863.1, CAA54047.1, ADP91879.1, ADP91891.1, ADP91870.1, ADP91874.1, ADP91880.1, ADP91868.1, ADP91866.1, ADP91889.1, AAD14014.1, ADP91892.1, ADP91873.1, EAX00600.1, ADP91887.1, ADP91854.1, ADP91890.1, ADP91882.1, ADP91855.1, ADP91883.1, ADP91885.1, ADP91878.1, ADP91858.1, ADP91857.1, ADP91872.1, ADP91867.1, ADP91875.1, ADP91862.1, ADP91856.1, ADP91876.1, ADP91860.1, ADP91884.1, ADP91861.1, AAY24298.1, ADP91877.1, ADP91865.1, AAH16289.2, AAH01115.1, ADP91881.1, ADP91886.1, ADP91859.1, ADP91888.1, EAX00602.1, ADP91893.1, ADP91869.1, ALQ33653.1
Ensembl_TRS: ENST00000233545, ENST00000380044
Protein sequencees
Ensembl_PRO: ENSP00000233545, ENSP00000369383
RefSeq: XP_016859639.1, XP_016859640.1, XP_016859641.1, XP_005264383.1, XP_024308681.1, NP_002428.1, XP_006712084.1
Others
UniRef100: UniRef100_P39210
UniRef90: UniRef90_P39210
UniRef50: UniRef50_P39210
UniGene: Hs.75659
CCDS: CCDS1748.1

全选

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