YME1L1 (YME1 like 1 ATPase)

2016-10-01  

Identity

HGNC
LOCATION
10p12.1
LOCUSID
ALIAS
FTSH,MEG4,OPA11,PAMP,YME1L
FUSION GENES

Other Information

Locus ID:

NCBI: 10730
MIM: 607472
HGNC: 12843
Ensembl: ENSG00000136758

Variants:

dbSNP: 10730
ClinVar: 10730
TCGA: ENSG00000136758
COSMIC: YME1L1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136758ENST00000326799Q96TA2
ENSG00000136758ENST00000375972Q96I63
ENSG00000136758ENST00000376016Q96TA2
ENSG00000136758ENST00000396296Q5T8D2
ENSG00000136758ENST00000427324Q5T8D1
ENSG00000136758ENST00000477432Q6PJ89
ENSG00000136758ENST00000491542R4GNA5
ENSG00000136758ENST00000613434Q96TA2

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
222624612012YME1L controls the accumulation of respiratory chain subunits and is required for apoptotic resistance, cristae morphogenesis, and cell proliferation.56
269235992016Reciprocal Degradation of YME1L and OMA1 Adapts Mitochondrial Proteolytic Activity during Stress.42
274959752016Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation.29
254330322015YME1L degradation reduces mitochondrial proteolytic capacity during oxidative stress.27
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
277861712016Engineered AAA+ proteases reveal principles of proteolysis at the mitochondrial inner membrane.15
283561572017Migration of mitochondrial DNA in the nuclear genome of colorectal adenocarcinoma.10
305984792019ROMO1 is a constituent of the human presequence translocase required for YME1L protease import.4
316951972019Lipid signalling drives proteolytic rewiring of mitochondria by YME1L.4

Citation

Dessen P

YME1L1 (YME1 like 1 ATPase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56105/yme1l1