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Protein

Mitochondrial genome maintenance exonuclease 1

Gene

MGME1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei238 – 23811 Publication
Active sitei251 – 25111 Publication
Active sitei253 – 25311 Publication

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
Complete GO annotation...

Keywords - Molecular functioni

Exonuclease, Hydrolase, Nuclease

Keywords - Biological processi

DNA 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

HGNCiHGNC:16205. MGME1.

Subcellular locationi

GO - Cellular componenti

  • mitochondrion Source: UniProtKB
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti233 – 2331Y → C in MTDPS11; impaired exonuclease activity. 1 Publication
Corresponds to variant rs587776944 [ dbSNP | Ensembl ].
VAR_069102

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi251 – 2511D → A: Abolishes catalytic activity. 1 Publication
Mutagenesisi253 – 2531K → A: Abolishes catalytic activity. 2 Publications
Mutagenesisi253 – 2531K → A: Abolishes exonuclease activity. 2 Publications

Keywords - Diseasei

Disease mutation, Progressive external ophthalmoplegia

Organism-specific databases

MalaCardsiMGME1.
MIMi615084. phenotype.
Orphaneti352447. Progressive external ophthalmoplegia - myopathy - emaciation.
PharmGKBiPA25783.

Polymorphism and mutation databases

BioMutaiMGME1.
DMDMi25452901.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini? – 344Mitochondrial genome maintenance exonuclease 1PRO_0000079439
Transit peptidei1 – ?MitochondrionUniRule annotation

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei343 – 3431PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BQP7.
MaxQBiQ9BQP7.
PaxDbiQ9BQP7.
PeptideAtlasiQ9BQP7.
PRIDEiQ9BQP7.

PTM databases

iPTMnetiQ9BQP7.
PhosphoSiteiQ9BQP7.

Expressioni

Gene expression databases

BgeeiENSG00000125871.
CleanExiHS_C20orf72.
ExpressionAtlasiQ9BQP7. baseline and differential.
GenevisibleiQ9BQP7. HS.

Organism-specific databases

HPAiHPA040913.

Interactioni

Protein-protein interaction databases

BioGridi124964. 16 interactions.
IntActiQ9BQP7. 5 interactions.
MINTiMINT-1473478.
STRINGi9606.ENSP00000366939.

Structurei

3D structure databases

ProteinModelPortaliQ9BQP7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the MGME1 family.UniRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

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

Family and domain databases

HAMAPiMF_03030. MGME1. 1 hit.
InterProiIPR026970. MGME1.
IPR011335. Restrct_endonuc-II-like.
[Graphical view]
SUPFAMiSSF52980. SSF52980. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti308 – 3081F → L in BAB55160 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti15 – 151S → C.
Corresponds to variant rs11551768 [ dbSNP | Ensembl ].
VAR_033758
Natural varianti233 – 2331Y → C in MTDPS11; impaired exonuclease activity. 1 Publication
Corresponds to variant rs587776944 [ dbSNP | Ensembl ].
VAR_069102

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027503 mRNA. Translation: BAB55160.1.
AK315532 mRNA. Translation: BAG37912.1.
AL121585 Genomic DNA. Translation: CAC35072.1.
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.
UniGeneiHs.320823.

Genome annotation databases

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

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027503 mRNA. Translation: BAB55160.1.
AK315532 mRNA. Translation: BAG37912.1.
AL121585 Genomic DNA. Translation: CAC35072.1.
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.
UniGeneiHs.320823.

3D structure databases

ProteinModelPortaliQ9BQP7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124964. 16 interactions.
IntActiQ9BQP7. 5 interactions.
MINTiMINT-1473478.
STRINGi9606.ENSP00000366939.

PTM databases

iPTMnetiQ9BQP7.
PhosphoSiteiQ9BQP7.

Polymorphism and mutation databases

BioMutaiMGME1.
DMDMi25452901.

Proteomic databases

EPDiQ9BQP7.
MaxQBiQ9BQP7.
PaxDbiQ9BQP7.
PeptideAtlasiQ9BQP7.
PRIDEiQ9BQP7.

Protocols and materials databases

DNASUi92667.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi92667.
GeneCardsiMGME1.
H-InvDBHIX0015662.
HGNCiHGNC:16205. MGME1.
HPAiHPA040913.
MalaCardsiMGME1.
MIMi615076. gene.
615084. phenotype.
neXtProtiNX_Q9BQP7.
Orphaneti352447. Progressive external ophthalmoplegia - myopathy - emaciation.
PharmGKBiPA25783.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii92667.
PROiQ9BQP7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125871.
CleanExiHS_C20orf72.
ExpressionAtlasiQ9BQP7. baseline and differential.
GenevisibleiQ9BQP7. HS.

Family and domain databases

HAMAPiMF_03030. MGME1. 1 hit.
InterProiIPR026970. MGME1.
IPR011335. Restrct_endonuc-II-like.
[Graphical view]
SUPFAMiSSF52980. SSF52980. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiMGME1_HUMAN
AccessioniPrimary (citable) accession number: Q9BQP7
Secondary accession number(s): B2RDG5, D3DW29, Q96SW3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 25, 2002
Last sequence update: June 1, 2001
Last modified: September 7, 2016
This is version 117 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.