KEGG   Homo sapiens (human): 92667
Entry
92667             CDS       T01001                                 
Symbol
MGME1, C20orf72, DDK1, MTDPS11, bA504H3.4
Name
(RefSeq) mitochondrial genome maintenance exonuclease 1
  KO
K19465  mitochondrial genome maintenance exonuclease 1 [EC:3.1.-.-]
Organism
hsa  Homo sapiens (human)
Disease
H00469  Mitochondrial DNA depletion syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03029 Mitochondrial biogenesis [BR:hsa03029]
    92667 (MGME1)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial DNA transcription, translation, and replication factors
  Mitochondrial DNA replication factors
   Mitochondrial DNA maintenance factors
    92667 (MGME1)
SSDB
Motif
Pfam: PDDEXK_1
Other DBs
NCBI-GeneID: 92667
NCBI-ProteinID: NP_443097
OMIM: 615076
HGNC: 16205
Ensembl: ENSG00000125871
UniProt: Q9BQP7
Structure
Position
20:17968590..17991122
AA seq 344 aa
MKMKLFQTICRQLRSSKFSVESAALVAFSTSSYSCGRKKKVNPYEEVDQEKYSNLVQSVL
SSRGVAQTPGSVEEDALLCGPVSKHKLPNQGEDRRVPQNWFPIFNPERSDKPNASDPSVP
LKIPLQRNVIPSVTRVLQQTMTKQQVFLLERWKQRMILELGEDGFKEYTSNVFLQGKRFH
EALESILSPQETLKERDENLLKSGYIESVQHILKDVSGVRALESAVQHETLNYIGLLDCV
AEYQGKLCVIDWKTSEKPKPFIQSTFDNPLQVVAYMGAMNHDTNYSFQVQCGLIVVAYKD
GSPAHPHFMDAELCSQYWTKWLLRLEEYTEKKKNQNIQKPEYSE
NT seq 1035 nt   +upstreamnt  +downstreamnt
atgaagatgaagttatttcagaccatttgcaggcagctcaggagttcaaagttttctgtg
gaatcagctgcccttgtggctttctctacttcctcttactcatgtggccggaagaaaaaa
gtgaacccatatgaagaagtggaccaagaaaaatactctaatttagttcagtctgtcttg
tcatccagaggcgtcgcccagaccccgggatcggtggaggaagatgctttgctctgtgga
cccgtgagcaagcataagctgccaaaccaaggtgaggacagacgagtgccacaaaactgg
tttcctatcttcaatccagagagaagtgataaaccaaatgcaagtgatccttcagttcct
ttgaaaatccccttgcaaaggaatgtgataccaagtgtgacccgagtccttcagcagacc
atgacaaaacaacaggttttcttgttggagaggtggaaacagcggatgattctggaactg
ggagaagatggctttaaagaatacacttcaaacgtctttttacaagggaaacggttccac
gaagccttggaaagcatactttcaccccaggaaaccttaaaagagagagatgaaaatctc
ctcaagtctggttacattgaaagtgtccagcatattctgaaagatgtcagtggagtgcga
gctcttgaaagtgctgttcaacatgaaaccttaaactatataggtctgctggactgtgtg
gctgagtatcagggcaagctctgtgtgattgattggaagacatcagagaaaccaaagcct
tttattcaaagtacatttgacaacccactgcaagttgtggcatacatgggtgccatgaac
catgataccaactacagctttcaggttcaatgtggcttaattgtggtggcctacaaagat
ggatcacctgcccacccacatttcatggatgcagagctctgttcccagtactggaccaag
tggcttcttcgactagaagaatatacggaaaagaaaaagaaccagaatattcagaaacca
gaatattcagaatag

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Ontology (2)   
   KEGG BRITE (2)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (28)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (26)   
DNA sequence (54)   
   RefSeq(nuc) (26)   
   GenBank (14)   
   EMBL (14)   
3D Structure (4)   
   PDB (4)   
Protein domain (1)   
   Pfam (1)   
All databases (106)   

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