Seroatlas · Human Serome Atlas

MGME1

Mitochondrial genome maintenance exonuclease 1

Also known as: bA504H3.4, C20orf72, DDK1, MGME1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9BQP7
Gene
MGME1
Ensembl
ENSG00000125871
Chromosome
20
Canonical length
344 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Mitochondria

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

344 residues, UniProt reviewed canonical sequence.

>Q9BQP7|MGME1
     1  MKMKLFQTIC RQLRSSKFSV ESAALVAFST SSYSCGRKKK VNPYEEVDQE KYSNLVQSVL
    61  SSRGVAQTPG SVEEDALLCG PVSKHKLPNQ GEDRRVPQNW FPIFNPERSD KPNASDPSVP
   121  LKIPLQRNVI PSVTRVLQQT MTKQQVFLLE RWKQRMILEL GEDGFKEYTS NVFLQGKRFH
   181  EALESILSPQ ETLKERDENL LKSGYIESVQ HILKDVSGVR ALESAVQHET LNYIGLLDCV
   241  AEYQGKLCVI DWKTSEKPKP FIQSTFDNPL QVVAYMGAMN HDTNYSFQVQ CGLIVVAYKD
   301  GSPAHPHFMD AELCSQYWTK WLLRLEEYTE KKKNQNIQKP EYSE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MGME1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
32 nTPM

Expression across tissuesHPA

Tissue

  • skin: 32 nTPM
  • skeletal muscle: 20 nTPM
  • tonsil: 20 nTPM
  • lymph node: 19 nTPM
  • thymus: 18 nTPM
  • breast: 17 nTPM

Single-cell type

  • kupffer cells: 104 nCPM
  • myonuclei: 80 nCPM
  • neutrophil progenitors: 79 nCPM
  • erythrocyte progenitors: 76 nCPM
  • basal keratinocytes: 73 nCPM
  • breast myoepithelial cells: 71 nCPM

Immune cell

  • basophil: 58 nTPM
  • eosinophil: 45 nTPM
  • naive B-cell: 24 nTPM
  • memory B-cell: 21 nTPM
  • plasmacytoid DC: 20 nTPM
  • T-reg: 17 nTPM

Brain region

  • white matter: 9.6 nTPM
  • medulla oblongata: 8.5 nTPM
  • spinal cord: 7.6 nTPM
  • basal ganglia: 7.1 nTPM
  • midbrain: 7.1 nTPM
  • cerebellum: 7 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MGME1.

Disease | AllUniProt

Conditions MGME1 is implicated in, by any mechanism.

  • Mitochondrial DNA depletion syndrome 11 (MTDPS11) MIM:615084

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 201 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Mitochondrial DNA depletion syndrome 11

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.84
gnomAD pLI
0
gnomAD missense Z
-0.26
DepMap mean gene effect
-0.02
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MGME1 as an antibody target. Whether an autoantibody or antibody against MGME1 could matter depends on whether native MGME1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MGME1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label MGME1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MGME1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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