MGME1 (mitochondrial genome maintenance exonuclease 1)

2013-01-01 Affiliation

Identity

HGNC

MGME1

LOCATION

20p11.23

LOCUSID

92667

ALIAS

C20orf72,DDK1,MTDPS11,bA504H3.4

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 92667
MIM: 615076
HGNC: 16205
Ensembl: ENSG00000125871

Variants:

dbSNP: 92667
ClinVar: 92667
TCGA: ENSG00000125871
COSMIC: MGME1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000125871	ENST00000377704	Q5QPE7
ENSG00000125871	ENST00000377709	Q5QPE8
ENSG00000125871	ENST00000377710	Q9BQP7

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
37166417	2023	MGME1 associates with poor prognosis and is vital for cell proliferation in lower-grade glioma.	2
37166417	2023	MGME1 associates with poor prognosis and is vital for cell proliferation in lower-grade glioma.	2
29572490	2018	Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.	43
30247721	2018	Structural insights into DNA degradation by human mitochondrial nuclease MGME1.	11
29572490	2018	Mice lacking the mitochondrial exonuclease MGME1 accumulate mtDNA deletions without developing progeria.	43
30247721	2018	Structural insights into DNA degradation by human mitochondrial nuclease MGME1.	11
28711739	2017	Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.	3
28711739	2017	Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.	3
27220468	2016	MGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication.	33
27220468	2016	MGME1 processes flaps into ligatable nicks in concert with DNA polymerase γ during mtDNA replication.	33
24986917	2014	Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.	41
24986917	2014	Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.	41
23313956	2013	Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.	114
23358826	2013	Identification of a novel human mitochondrial endo-/exonuclease Ddk1/c20orf72 necessary for maintenance of proper 7S DNA levels.	28
23313956	2013	Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.	114

Citation

Dessen P

MGME1 (mitochondrial genome maintenance exonuclease 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-01-01

Online version: http://atlasgeneticsoncology.org/gene/53146/mgme1-(mitochondrial-genome-maintenance-exonuclease-1)