Expression of MGME1 in cancer - Summary

CANCER ATLAS

Gene description

Mitochondrial genome maintenance exonuclease 1

Protein class

Disease related genes, Predicted intracellular proteins

Protein evidence

Evidence at protein level

Colorectal cancer

Breast cancer

Prostate cancer

Lung cancer

Liver cancer

STAINING SUMMARY

HPA040913

GENE INFORMATION
Gene name	MGME1 (HGNC Symbol)
Synonyms	bA504H3.4, C20orf72, DDK1
Description	Mitochondrial genome maintenance exonuclease 1 (HGNC Symbol)
Entrez gene summary	The protein encoded by this gene is a nuclear-encoded mitochondrial protein necessary for the maintenance of mitochondrial genome synthesis. The encoded protein is a RecB-type exonuclease and primarily cleaves single-stranded DNA. Defects in this gene have been associated with mitochondrial DNA depletion syndrome-11. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Chromosome	20
Cytoband	p11.23
Chromosome location (bp)	17968913 - 17991122
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000125871 (version 83.38)
Entrez gene	92667
UniProt	Q9BQP7 (UniProt - Evidence at protein level)
neXtProt	NX_Q9BQP7
Antibodypedia	MGME1 antibodies

PROTEIN BROWSER

MGME1-001	MGME1-002	MGME1-003

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
MGME1-001 ENSP00000366939 ENST00000377710	Q9BQP7 [Direct mapping] Mitochondrial genome maintenance exonuclease 1 Show all	Phobius predicted secreted proteins Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0000002 [mitochondrial genome maintenance] GO:0005739 [mitochondrion] GO:0006264 [mitochondrial DNA replication] GO:0008297 [single-stranded DNA exodeoxyribonuclease activity] GO:0043504 [mitochondrial DNA repair] GO:0090305 [nucleic acid phosphodiester bond hydrolysis] Show all	344 aa 39.4 kDa	No	0
MGME1-002 ENSP00000366938 ENST00000377709	Q5QPE8 [Direct mapping] Mitochondrial genome maintenance exonuclease 1 Show all	Phobius predicted secreted proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] GO:0008297 [single-stranded DNA exodeoxyribonuclease activity] GO:0043504 [mitochondrial DNA repair] Show all	264 aa 30 kDa	No	0
MGME1-003 ENSP00000366933 ENST00000377704	Q5QPE7 [Direct mapping] Mitochondrial genome maintenance exonuclease 1 Show all	Phobius predicted secreted proteins Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005739 [mitochondrion] Show all	252 aa 28.8 kDa	No	0