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Protein

Mitochondrial genome maintenance exonuclease 1

Gene

MGME1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Metal-dependent single-stranded DNA (ssDNA) exonuclease involved in mitochondrial genome maintenance. Has preference for 5'-3' exonuclease activity but is also capable of endoduclease activity on linear substrates. Necessary for maintenance of proper 7S DNA levels. Probably involved in mitochondrial DNA (mtDNA) repair, possibly via the processing of displaced DNA containing Okazaki fragments during RNA-primed DNA synthesis on the lagging strand or via processing of DNA flaps during long-patch base excision repair. Specifically binds 5-hydroxymethylcytosine (5hmC)-containing DNA in stem cells.UniRule annotation2 Publications

Miscellaneous

This protein may be expected to contain an N-terminal transit peptide but none has been predicted.UniRule annotation

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei2381 Publication1
Active sitei2511 Publication1
Active sitei2531 Publication1

GO - Molecular functioni

  • single-stranded DNA exodeoxyribonuclease activity Source: UniProtKB

GO - Biological processi

  • mitochondrial DNA repair Source: UniProtKB
  • mitochondrial DNA replication Source: UniProtKB
  • mitochondrial genome maintenance Source: UniProtKB

Keywordsi

Molecular functionExonuclease, Hydrolase, Nuclease
Biological processDNA damage, DNA repair

Names & Taxonomyi

Protein namesi
Recommended name:
Mitochondrial genome maintenance exonuclease 1UniRule annotation (EC:3.1.-.-UniRule annotation)
Gene namesi
Name:MGME1UniRule annotation
Synonyms:C20orf72, DDK1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000125871.13
HGNCiHGNC:16205 MGME1
MIMi615076 gene
neXtProtiNX_Q9BQP7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Mitochondrial DNA depletion syndrome 11 (MTDPS11)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia, muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities.
See also OMIM:615084
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069102233Y → C in MTDPS11; impaired exonuclease activity. 1 PublicationCorresponds to variant dbSNP:rs587776944Ensembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi251D → A: Abolishes catalytic activity. 1 Publication1
Mutagenesisi253K → A: Abolishes catalytic activity. 2 Publications1
Mutagenesisi253K → A: Abolishes exonuclease activity. 2 Publications1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease, Progressive external ophthalmoplegia

Organism-specific databases

DisGeNETi92667
MalaCardsiMGME1
MIMi615084 phenotype
OpenTargetsiENSG00000125871
Orphaneti352447 Progressive external ophthalmoplegia - myopathy - emaciation
PharmGKBiPA25783

Polymorphism and mutation databases

BioMutaiMGME1
DMDMi25452901

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000794391 – 344Mitochondrial genome maintenance exonuclease 1Add BLAST344

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei343PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BQP7
MaxQBiQ9BQP7
PaxDbiQ9BQP7
PeptideAtlasiQ9BQP7
PRIDEiQ9BQP7

PTM databases

iPTMnetiQ9BQP7
PhosphoSitePlusiQ9BQP7

Expressioni

Gene expression databases

BgeeiENSG00000125871
CleanExiHS_C20orf72
ExpressionAtlasiQ9BQP7 baseline and differential
GenevisibleiQ9BQP7 HS

Organism-specific databases

HPAiHPA040913

Interactioni

Protein-protein interaction databases

BioGridi124964, 20 interactors
IntActiQ9BQP7, 10 interactors
MINTiQ9BQP7
STRINGi9606.ENSP00000366939

Structurei

3D structure databases

ProteinModelPortaliQ9BQP7
SMRiQ9BQP7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the MGME1 family.UniRule annotation

Phylogenomic databases

eggNOGiENOG410IFA1 Eukaryota
ENOG410XWHK LUCA
GeneTreeiENSGT00390000003349
HOGENOMiHOG000231693
HOVERGENiHBG051175
InParanoidiQ9BQP7
KOiK19465
OMAiCVAEYQG
OrthoDBiEOG091G0CCD
PhylomeDBiQ9BQP7
TreeFamiTF320375

Family and domain databases

HAMAPiMF_03030 MGME1, 1 hit
InterProiView protein in InterPro
IPR026970 MGME1
IPR038726 PDDEXK_AddAB-type
IPR011335 Restrct_endonuc-II-like
PfamiView protein in Pfam
PF12705 PDDEXK_1, 1 hit
SUPFAMiSSF52980 SSF52980, 1 hit

Sequencei

Sequence statusi: Complete.

Q9BQP7-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKMKLFQTIC RQLRSSKFSV ESAALVAFST SSYSCGRKKK VNPYEEVDQE
60 70 80 90 100
KYSNLVQSVL SSRGVAQTPG SVEEDALLCG PVSKHKLPNQ GEDRRVPQNW
110 120 130 140 150
FPIFNPERSD KPNASDPSVP LKIPLQRNVI PSVTRVLQQT MTKQQVFLLE
160 170 180 190 200
RWKQRMILEL GEDGFKEYTS NVFLQGKRFH EALESILSPQ ETLKERDENL
210 220 230 240 250
LKSGYIESVQ HILKDVSGVR ALESAVQHET LNYIGLLDCV AEYQGKLCVI
260 270 280 290 300
DWKTSEKPKP FIQSTFDNPL QVVAYMGAMN HDTNYSFQVQ CGLIVVAYKD
310 320 330 340
GSPAHPHFMD AELCSQYWTK WLLRLEEYTE KKKNQNIQKP EYSE
Length:344
Mass (Da):39,421
Last modified:June 1, 2001 - v1
Checksum:i923DEE90FCFED6C6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti308F → L in BAB55160 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03375815S → C. Corresponds to variant dbSNP:rs11551768EnsemblClinVar.1
Natural variantiVAR_069102233Y → C in MTDPS11; impaired exonuclease activity. 1 PublicationCorresponds to variant dbSNP:rs587776944Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027503 mRNA Translation: BAB55160.1
AK315532 mRNA Translation: BAG37912.1
AL121585 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10260.1
CH471133 Genomic DNA Translation: EAX10261.1
BC016869 mRNA Translation: AAH16869.1
CCDSiCCDS13131.1
RefSeqiNP_001297267.1, NM_001310338.1
NP_001297268.1, NM_001310339.1
NP_443097.1, NM_052865.3
XP_016883616.1, XM_017028127.1
XP_016883617.1, XM_017028128.1
UniGeneiHs.320823

Genome annotation databases

EnsembliENST00000377710; ENSP00000366939; ENSG00000125871
GeneIDi92667
KEGGihsa:92667
UCSCiuc002wqh.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMGME1_HUMAN
AccessioniPrimary (citable) accession number: Q9BQP7
Secondary accession number(s): B2RDG5, D3DW29, Q96SW3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 25, 2002
Last sequence update: June 1, 2001
Last modified: May 23, 2018
This is version 132 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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