Human Gene MGME1 (ENST00000377710.10_7) from GENCODE V47lift37
  Description: mitochondrial genome maintenance exonuclease 1, transcript variant 2 (from RefSeq NM_052865.4)
Gencode Transcript: ENST00000377710.10_7
Gencode Gene: ENSG00000125871.14_10
Transcript (Including UTRs)
   Position: hg19 chr20:17,949,661-17,971,765 Size: 22,105 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr20:17,950,503-17,970,752 Size: 20,250 Coding Exon Count: 4 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:17,949,661-17,971,765)mRNA (may differ from genome)Protein (344 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MGME1
Diseases sorted by gene-association score: mitochondrial dna depletion syndrome 11* (1591), mitochondrial dna depletion syndrome, mgme1-related* (100)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 18.41 RPKM in Skin - Not Sun Exposed (Suprapubic)
Total median expression: 330.92 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.00183-0.262 Picture PostScript Text
3' UTR -286.501013-0.283 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026970 - UPF_C20orf72

Pfam Domains:
PF12705 - PD-(D/E)XK nuclease superfamily

SCOP Domains:
52980 - Restriction endonuclease-like

ModBase Predicted Comparative 3D Structure on Q9BQP7
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004518 nuclease activity
GO:0004527 exonuclease activity
GO:0008297 single-stranded DNA exodeoxyribonuclease activity
GO:0016787 hydrolase activity

Biological Process:
GO:0000002 mitochondrial genome maintenance
GO:0006264 mitochondrial DNA replication
GO:0006281 DNA repair
GO:0006974 cellular response to DNA damage stimulus
GO:0043504 mitochondrial DNA repair
GO:0090305 nucleic acid phosphodiester bond hydrolysis

Cellular Component:
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  AK315532 - Homo sapiens cDNA, FLJ96598.
AF306684 - Homo sapiens clone 597-10C mRNA sequence.
AF306685 - Homo sapiens clone NT7 mRNA sequence.
AK027503 - Homo sapiens cDNA FLJ14597 fis, clone NT2RM4002390.
BC016869 - Homo sapiens chromosome 20 open reading frame 72, mRNA (cDNA clone MGC:17602 IMAGE:3850853), complete cds.
HQ447812 - Synthetic construct Homo sapiens clone IMAGE:100071155; CCSB000526_01 chromosome 20 open reading frame 72 (C20orf72) gene, encodes complete protein.
KJ895190 - Synthetic construct Homo sapiens clone ccsbBroadEn_04584 C20orf72 gene, encodes complete protein.
CU677757 - Synthetic construct Homo sapiens gateway clone IMAGE:100019027 5' read C20orf72 mRNA.
AK309563 - Homo sapiens cDNA, FLJ99604.
AK310282 - Homo sapiens cDNA, FLJ17324.
AK309995 - Homo sapiens cDNA, FLJ17037.
AF306686 - Homo sapiens clone N9r mRNA sequence.
DL492060 - Novel nucleic acids.
DL490609 - Novel nucleic acids.
BX647404 - Homo sapiens mRNA; cDNA DKFZp313D1710 (from clone DKFZp313D1710).
JD214359 - Sequence 195383 from Patent EP1572962.
JD266863 - Sequence 247887 from Patent EP1572962.
JD197027 - Sequence 178051 from Patent EP1572962.
JD167793 - Sequence 148817 from Patent EP1572962.
JD340025 - Sequence 321049 from Patent EP1572962.
JD221484 - Sequence 202508 from Patent EP1572962.
JD496072 - Sequence 477096 from Patent EP1572962.
JD116742 - Sequence 97766 from Patent EP1572962.
JD510015 - Sequence 491039 from Patent EP1572962.
JD298627 - Sequence 279651 from Patent EP1572962.
JD244565 - Sequence 225589 from Patent EP1572962.
JD278651 - Sequence 259675 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RDG5, C20orf72, D3DW29, DDK1, ENST00000377710.1, ENST00000377710.2, ENST00000377710.3, ENST00000377710.4, ENST00000377710.5, ENST00000377710.6, ENST00000377710.7, ENST00000377710.8, ENST00000377710.9, MGME1 , MGME1_HUMAN, NM_052865, Q96SW3, Q9BQP7, uc318nuk.1, uc318nuk.2
UCSC ID: ENST00000377710.10_7
RefSeq Accession: NM_052865.4
Protein: Q9BQP7 (aka CT072_HUMAN or CT72_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.